Functions and Diseases

RBP Type Canonical_RBPs
Diseases CancerSARS-COV-OC43SARS-COV-2
Drug N.A.
Main interacting RNAs mRNA
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq N.A.

Description

Ensembl ID ENSG00000138095 Gene ID 10128 Accession 15714
Symbol LRPPRC Alias LSFC;GP130;LRP130;MC4DN5;CLONE-23970 Full Name leucine rich pentatricopeptide repeat containing
Status Confidence Length 110003 bases Strand Minus strand
Position 2 : 43886224 - 43996226 RNA binding domain PPR_3 , PPR_long , PPR
Summary This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000507181 PPR_3 PF13812 1.7e-24 1
ENSP00000507181 PPR_3 PF13812 1.7e-24 2
ENSP00000507181 PPR_3 PF13812 1.7e-24 3
ENSP00000507181 PPR PF01535 1.7e-26 4
ENSP00000507181 PPR PF01535 1.7e-26 5
ENSP00000507181 PPR PF01535 1.7e-26 6
ENSP00000507181 PPR PF01535 1.7e-26 7
ENSP00000507181 PPR PF01535 1.7e-26 8
ENSP00000507181 PPR_long PF17177 5e-21 9
ENSP00000506885 PPR_3 PF13812 3.1e-24 1
ENSP00000506885 PPR_3 PF13812 3.1e-24 2
ENSP00000506885 PPR_3 PF13812 3.1e-24 3
ENSP00000506885 PPR PF01535 2.6e-26 4
ENSP00000506885 PPR PF01535 2.6e-26 5
ENSP00000506885 PPR PF01535 2.6e-26 6
ENSP00000506885 PPR PF01535 2.6e-26 7
ENSP00000506885 PPR PF01535 2.6e-26 8
ENSP00000506885 PPR_long PF17177 1.8e-21 9
ENSP00000507947 PPR_3 PF13812 4.9e-24 1
ENSP00000507947 PPR_3 PF13812 4.9e-24 2
ENSP00000507947 PPR_3 PF13812 4.9e-24 3
ENSP00000507947 PPR PF01535 3.4e-29 4
ENSP00000507947 PPR PF01535 3.4e-29 5
ENSP00000507947 PPR PF01535 3.4e-29 6
ENSP00000507947 PPR PF01535 3.4e-29 7
ENSP00000507947 PPR PF01535 3.4e-29 8
ENSP00000507947 PPR PF01535 3.4e-29 9
ENSP00000507947 PPR_long PF17177 1.6e-21 10
ENSP00000508188 PPR_3 PF13812 5e-24 1
ENSP00000508188 PPR_3 PF13812 5e-24 2
ENSP00000508188 PPR_3 PF13812 5e-24 3
ENSP00000508188 PPR PF01535 3.5e-29 4
ENSP00000508188 PPR PF01535 3.5e-29 5
ENSP00000508188 PPR PF01535 3.5e-29 6
ENSP00000508188 PPR PF01535 3.5e-29 7
ENSP00000508188 PPR PF01535 3.5e-29 8
ENSP00000508188 PPR PF01535 3.5e-29 9
ENSP00000508188 PPR_long PF17177 1.6e-21 10
ENSP00000260665 PPR_3 PF13812 5e-24 1
ENSP00000260665 PPR_3 PF13812 5e-24 2
ENSP00000260665 PPR_3 PF13812 5e-24 3
ENSP00000260665 PPR PF01535 3.5e-29 4
ENSP00000260665 PPR PF01535 3.5e-29 5
ENSP00000260665 PPR PF01535 3.5e-29 6
ENSP00000260665 PPR PF01535 3.5e-29 7
ENSP00000260665 PPR PF01535 3.5e-29 8
ENSP00000260665 PPR PF01535 3.5e-29 9
ENSP00000260665 PPR_long PF17177 1.6e-21 10
ENSP00000507751 PPR_3 PF13812 5.1e-24 1
ENSP00000507751 PPR_3 PF13812 5.1e-24 2
ENSP00000507751 PPR_3 PF13812 5.1e-24 3
ENSP00000507751 PPR PF01535 3.5e-29 4
ENSP00000507751 PPR PF01535 3.5e-29 5
ENSP00000507751 PPR PF01535 3.5e-29 6
ENSP00000507751 PPR PF01535 3.5e-29 7
ENSP00000507751 PPR PF01535 3.5e-29 8
ENSP00000507751 PPR PF01535 3.5e-29 9
ENSP00000507751 PPR_long PF17177 1.3e-21 10
ENSP00000508036 PPR_3 PF13812 5.2e-24 1
ENSP00000508036 PPR_3 PF13812 5.2e-24 2
ENSP00000508036 PPR_3 PF13812 5.2e-24 3
ENSP00000508036 PPR PF01535 2.9e-29 4
ENSP00000508036 PPR PF01535 2.9e-29 5
ENSP00000508036 PPR PF01535 2.9e-29 6
ENSP00000508036 PPR PF01535 2.9e-29 7
ENSP00000508036 PPR PF01535 2.9e-29 8
ENSP00000508036 PPR PF01535 2.9e-29 9
ENSP00000508036 PPR_long PF17177 1.5e-21 10
ENSP00000508344 PPR_3 PF13812 5.2e-24 1
ENSP00000508344 PPR_3 PF13812 5.2e-24 2
ENSP00000508344 PPR_3 PF13812 5.2e-24 3
ENSP00000508344 PPR PF01535 3.7e-29 4
ENSP00000508344 PPR PF01535 3.7e-29 5
ENSP00000508344 PPR PF01535 3.7e-29 6
ENSP00000508344 PPR PF01535 3.7e-29 7
ENSP00000508344 PPR PF01535 3.7e-29 8
ENSP00000508344 PPR PF01535 3.7e-29 9
ENSP00000508344 PPR_long PF17177 1.4e-21 10
ENSP00000507151 PPR_3 PF13812 5.4e-24 1
ENSP00000507151 PPR_3 PF13812 5.4e-24 2
ENSP00000507151 PPR_3 PF13812 5.4e-24 3
ENSP00000507151 PPR PF01535 3.9e-29 4
ENSP00000507151 PPR PF01535 3.9e-29 5
ENSP00000507151 PPR PF01535 3.9e-29 6
ENSP00000507151 PPR PF01535 3.9e-29 7
ENSP00000507151 PPR PF01535 3.9e-29 8
ENSP00000507151 PPR PF01535 3.9e-29 9
ENSP00000507151 PPR_long PF17177 1.7e-21 10
ENSP00000506852 PPR_3 PF13812 6.5e-24 1
ENSP00000506852 PPR_3 PF13812 6.5e-24 2
ENSP00000506852 PPR_3 PF13812 6.5e-24 3
ENSP00000506852 PPR PF01535 3.9e-29 4
ENSP00000506852 PPR PF01535 3.9e-29 5
ENSP00000506852 PPR PF01535 3.9e-29 6
ENSP00000506852 PPR PF01535 3.9e-29 7
ENSP00000506852 PPR PF01535 3.9e-29 8
ENSP00000506852 PPR PF01535 3.9e-29 9
ENSP00000506852 PPR_long PF17177 4.5e-20 10
ENSP00000507056 PPR_3 PF13812 6.6e-24 1
ENSP00000507056 PPR_3 PF13812 6.6e-24 2
ENSP00000507056 PPR_3 PF13812 6.6e-24 3
ENSP00000507056 PPR PF01535 4e-29 4
ENSP00000507056 PPR PF01535 4e-29 5
ENSP00000507056 PPR PF01535 4e-29 6
ENSP00000507056 PPR PF01535 4e-29 7
ENSP00000507056 PPR PF01535 4e-29 8
ENSP00000507056 PPR PF01535 4e-29 9
ENSP00000507056 PPR_long PF17177 4.5e-20 10
ENSP00000507716 PPR_3 PF13812 3.1e-22 1
ENSP00000507716 PPR_3 PF13812 3.1e-22 2
ENSP00000507716 PPR_3 PF13812 3.1e-22 3
ENSP00000507716 PPR PF01535 3.9e-24 4
ENSP00000507716 PPR PF01535 3.9e-24 5
ENSP00000507716 PPR PF01535 3.9e-24 6
ENSP00000507716 PPR PF01535 3.9e-24 7
ENSP00000507716 PPR PF01535 3.9e-24 8
ENSP00000507716 PPR_long PF17177 4e-19 9
ENSP00000403637 PPR_3 PF13812 4.8e-22 1
ENSP00000403637 PPR_3 PF13812 4.8e-22 2
ENSP00000403637 PPR_3 PF13812 4.8e-22 3
ENSP00000403637 PPR PF01535 6.9e-24 4
ENSP00000403637 PPR PF01535 6.9e-24 5
ENSP00000403637 PPR PF01535 6.9e-24 6
ENSP00000403637 PPR PF01535 6.9e-24 7
ENSP00000403637 PPR PF01535 6.9e-24 8
ENSP00000403637 PPR_long PF17177 5.3e-19 9
ENSP00000386562 PPR_3 PF13812 5e-22 1
ENSP00000386562 PPR_3 PF13812 5e-22 2
ENSP00000386562 PPR_3 PF13812 5e-22 3
ENSP00000386562 PPR PF01535 7.3e-24 4
ENSP00000386562 PPR PF01535 7.3e-24 5
ENSP00000386562 PPR PF01535 7.3e-24 6
ENSP00000386562 PPR PF01535 7.3e-24 7
ENSP00000386562 PPR PF01535 7.3e-24 8
ENSP00000386562 PPR_long PF17177 5.4e-19 9
ENSP00000507510 PPR_3 PF13812 5.3e-22 1
ENSP00000507510 PPR_3 PF13812 5.3e-22 2
ENSP00000507510 PPR_3 PF13812 5.3e-22 3
ENSP00000507510 PPR PF01535 3.5e-24 4
ENSP00000507510 PPR PF01535 3.5e-24 5
ENSP00000507510 PPR PF01535 3.5e-24 6
ENSP00000507510 PPR PF01535 3.5e-24 7
ENSP00000507510 PPR PF01535 3.5e-24 8
ENSP00000507510 PPR_long PF17177 5.8e-19 9
ENSP00000506820 PPR_3 PF13812 8.6e-22 1
ENSP00000506820 PPR_3 PF13812 8.6e-22 2
ENSP00000506820 PPR_3 PF13812 8.6e-22 3
ENSP00000506820 PPR PF01535 2.3e-27 4
ENSP00000506820 PPR PF01535 2.3e-27 5
ENSP00000506820 PPR PF01535 2.3e-27 6
ENSP00000506820 PPR PF01535 2.3e-27 7
ENSP00000506820 PPR PF01535 2.3e-27 8
ENSP00000506820 PPR PF01535 2.3e-27 9
ENSP00000506820 PPR_long PF17177 1.3e-18 10
ENSP00000507939 PPR_3 PF13812 1.1e-21 1
ENSP00000507939 PPR_3 PF13812 1.1e-21 2
ENSP00000507939 PPR_3 PF13812 1.1e-21 3
ENSP00000507939 PPR PF01535 2.8e-28 4
ENSP00000507939 PPR PF01535 2.8e-28 5
ENSP00000507939 PPR PF01535 2.8e-28 6
ENSP00000507939 PPR PF01535 2.8e-28 7
ENSP00000507939 PPR PF01535 2.8e-28 8
ENSP00000507939 PPR PF01535 2.8e-28 9
ENSP00000507939 PPR_long PF17177 5.1e-21 10
ENSP00000508038 PPR_3 PF13812 1.4e-20 1
ENSP00000508038 PPR_3 PF13812 1.4e-20 2
ENSP00000508038 PPR_3 PF13812 1.4e-20 3
ENSP00000508038 PPR PF01535 7.8e-16 4
ENSP00000508038 PPR PF01535 7.8e-16 5
ENSP00000508038 PPR PF01535 7.8e-16 6
ENSP00000508038 PPR_long PF17177 4.8e-17 7
ENSP00000508104 PPR_3 PF13812 1.4e-20 1
ENSP00000508104 PPR_3 PF13812 1.4e-20 2
ENSP00000508104 PPR_3 PF13812 1.4e-20 3
ENSP00000508104 PPR PF01535 8.1e-16 4
ENSP00000508104 PPR PF01535 8.1e-16 5
ENSP00000508104 PPR PF01535 8.1e-16 6
ENSP00000508104 PPR_long PF17177 5e-17 7
ENSP00000507702 PPR_3 PF13812 2.9e-20 1
ENSP00000507702 PPR_3 PF13812 2.9e-20 2
ENSP00000507702 PPR_3 PF13812 2.9e-20 3
ENSP00000507702 PPR PF01535 9.5e-24 4
ENSP00000507702 PPR PF01535 9.5e-24 5
ENSP00000507702 PPR PF01535 9.5e-24 6
ENSP00000507702 PPR PF01535 9.5e-24 7
ENSP00000507702 PPR PF01535 9.5e-24 8
ENSP00000507702 PPR_long PF17177 5.1e-22 9
ENSP00000386234 PPR_3 PF13812 6.6e-20 1
ENSP00000386234 PPR_3 PF13812 6.6e-20 2
ENSP00000386234 PPR_3 PF13812 6.6e-20 3
ENSP00000386234 PPR PF01535 4e-15 4
ENSP00000386234 PPR PF01535 4e-15 5
ENSP00000386234 PPR PF01535 4e-15 6
ENSP00000386234 PPR_long PF17177 1.3e-16 7
ENSP00000507243 PPR_3 PF13812 9.3e-19 1
ENSP00000507243 PPR_3 PF13812 9.3e-19 2
ENSP00000507243 PPR_3 PF13812 9.3e-19 3
ENSP00000507243 PPR PF01535 8.3e-18 4
ENSP00000507243 PPR PF01535 8.3e-18 5
ENSP00000507243 PPR PF01535 8.3e-18 6
ENSP00000507243 PPR PF01535 8.3e-18 7
ENSP00000507243 PPR_long PF17177 1.3e-16 8
ENSP00000507512 PPR PF01535 4.2e-14 1
ENSP00000507512 PPR PF01535 4.2e-14 2

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
12832482 LRP130, a pentatricopeptide motif protein with a noncanonical RNA-binding domain, is bound in vivo to mitochondrial and nuclear RNAs. Stavroula Mili 2003-07-01 Molecular and cellular biology
26016801 Mitochondrial transcript maturation and its disorders. Lindsey L Van 2015-07-01 Journal of inherited metabolic disease
36191230 CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model. Jiaxi Yu 2022-10-11 Proceedings of the National Academy of Sciences of the United States of America
37298184 SUV3 Helicase and Mitochondrial Homeostasis. Phang-Lang Chen 2023-05-25 International journal of molecular sciences
28814717 Drosophila protease ClpXP specifically degrades DmLRPPRC1 controlling mitochondrial mRNA and translation. Yuichi Matsushima 2017-08-16 Scientific reports
34671012 LncRNA SNHG17 interacts with LRPPRC to stabilize c-Myc protein and promote G1/S transition and cell proliferation. Jin-Yu Liu 2021-10-20 Cell death & disease
20633537 LRPPRC is a mitochondrial matrix protein that is conserved in metazoans. H Fredrik Sterky 2010-08-06 Biochemical and biophysical research communications
28835257 Long noncoding RNAs coordinate functions between mitochondria and the nucleus. Yaru Dong 2017-08-23 Epigenetics & chromatin
22661577 LRPPRC/SLIRP suppresses PNPase-mediated mRNA decay and promotes polyadenylation in human mitochondria. Takeshi Chujo 2012-09-01 Nucleic acids research
25214534 Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome. Florin Sasarman 2015-01-15 Human molecular genetics
22808186 Knockdown of the cellular protein LRPPRC attenuates HIV-1 infection. J Cameron Schweitzer 2012-01-01 PloS one
25959826 Quantitative interaction proteomics of neurodegenerative disease proteins. Fabian Hosp 2015-05-19 Cell reports
33435522 Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions. Margherita Protasoni 2021-01-08 International journal of molecular sciences
26510951 LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Monika Oláhová 2015-12-01 Brain : a journal of neurology
31040785 lncRNA ZEB1-AS1 Mediates Oxidative Low-Density Lipoprotein-Mediated Endothelial Cells Injury by Post-transcriptional Stabilization of NOD2. Xiaohui Xu 2019-01-01 Frontiers in pharmacology
19651879 Pentatricopeptide repeat domain protein 1 lowers the levels of mitochondrial leucine tRNAs in cells. Oliver Rackham 2009-09-01 Nucleic acids research
36408801 Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality. Ankit Sabharwal 2022-11-21 eLife
23635806 Human pentatricopeptide proteins: only a few and what do they do? N Robert Lightowlers 2013-01-01 RNA biology
31226201 Quantitative proteomics revealed C6orf203/MTRES1 as a factor preventing stress-induced transcription deficiency in human mitochondria. V Anna Kotrys 2019-08-22 Nucleic acids research
20677761 Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription. Neal Sondheimer 2010-09-07 Biochemistry
27353330 SLIRP stabilizes LRPPRC via an RRM-PPR protein interface. Henrik Spåhr 2016-08-19 Nucleic acids research
20220140 Mitochondrial and nuclear genomic responses to loss of LRPPRC expression. M Vishal Gohil 2010-04-30 The Journal of biological chemistry
29146908 LRPPRC-mediated folding of the mitochondrial transcriptome. J Stefan Siira 2017-11-16 Nature communications
20200222 LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria. Florin Sasarman 2010-04-15 Molecular biology of the cell
26565911 A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome. Julie J Thompson 2015-11-03 Cell reports
33300043 Reconstitution of mammalian mitochondrial translation system capable of correct initiation and long polypeptide synthesis from leaderless mRNA. Muhoon Lee 2021-01-11 Nucleic acids research
34888254 Targeting Mitochondrial Protein Expression as a Future Approach for Cancer Therapy. Daniela Criscuolo 2021-01-01 Frontiers in oncology
37452037 The RNA-binding protein LRPPRC promotes resistance to CDK4/6 inhibition in lung cancer. Wei Zhou 2023-07-14 Nature communications
25181249 The Pet309 pentatricopeptide repeat motifs mediate efficient binding to the mitochondrial COX1 transcript in yeast. Angélica Zamudio-Ochoa 2014-01-01 RNA biology

Transcripts

Name Transcript ID bp Protein Translation ID
LRPPRC-226 ENST00000682612 3328 266aa ENSP00000507966
LRPPRC-201 ENST00000260665 6603 1394aa ENSP00000260665
LRPPRC-266 ENST00000684454 10249 No protein -
LRPPRC-217 ENST00000682308 5259 1369aa ENSP00000507056
LRPPRC-214 ENST00000682154 2472 No protein -
LRPPRC-249 ENST00000683623 4951 1363aa ENSP00000507702
LRPPRC-246 ENST00000683459 5624 No protein -
LRPPRC-228 ENST00000682696 1188 33aa ENSP00000508411
LRPPRC-234 ENST00000683002 2028 281aa ENSP00000507415
LRPPRC-239 ENST00000683125 5169 1430aa ENSP00000507939
LRPPRC-257 ENST00000683994 5019 1277aa ENSP00000507181
LRPPRC-236 ENST00000683080 2647 No protein -
LRPPRC-222 ENST00000682546 5052 1393aa ENSP00000508188
LRPPRC-254 ENST00000683833 4973 1366aa ENSP00000506852
LRPPRC-268 ENST00000684619 5142 50aa ENSP00000508088
LRPPRC-212 ENST00000681993 2578 No protein -
LRPPRC-223 ENST00000682585 5264 1356aa ENSP00000506885
LRPPRC-225 ENST00000682607 3765 776aa ENSP00000507512
LRPPRC-252 ENST00000683796 4981 50aa ENSP00000508221
LRPPRC-241 ENST00000683220 5079 1404aa ENSP00000507151
LRPPRC-248 ENST00000683590 4698 1285aa ENSP00000506820
LRPPRC-259 ENST00000684306 5148 60aa ENSP00000508384
LRPPRC-245 ENST00000683409 3548 No protein -
LRPPRC-240 ENST00000683213 5071 1395aa ENSP00000507751
LRPPRC-264 ENST00000684418 6182 No protein -
LRPPRC-218 ENST00000682353 3437 No protein -
LRPPRC-229 ENST00000682779 4757 1391aa ENSP00000507947
LRPPRC-265 ENST00000684433 1056 No protein -
LRPPRC-231 ENST00000682885 4513 1379aa ENSP00000508036
LRPPRC-204 ENST00000419884 1282 167aa ENSP00000414207
LRPPRC-271 ENST00000684743 7255 No protein -
LRPPRC-206 ENST00000463456 3549 No protein -
LRPPRC-244 ENST00000683346 4543 50aa ENSP00000507458
LRPPRC-235 ENST00000683072 5084 No protein -
LRPPRC-216 ENST00000682303 4365 50aa ENSP00000508325
LRPPRC-243 ENST00000683329 5290 No protein -
LRPPRC-238 ENST00000683096 2846 No protein -
LRPPRC-232 ENST00000682933 4510 No protein -
LRPPRC-262 ENST00000684383 4125 54aa ENSP00000506863
LRPPRC-220 ENST00000682480 4325 1400aa ENSP00000508344
LRPPRC-258 ENST00000684290 3965 739aa ENSP00000507243
LRPPRC-219 ENST00000682434 3735 No protein -
LRPPRC-208 ENST00000472420 1376 No protein -
LRPPRC-224 ENST00000682595 4780 No protein -
LRPPRC-261 ENST00000684341 4216 No protein -
LRPPRC-209 ENST00000483489 528 No protein -
LRPPRC-250 ENST00000683645 5175 No protein -
LRPPRC-247 ENST00000683528 753 141aa ENSP00000508111
LRPPRC-253 ENST00000683802 6739 No protein -
LRPPRC-230 ENST00000682845 2901 No protein -
LRPPRC-215 ENST00000682295 519 107aa ENSP00000507499
LRPPRC-270 ENST00000684705 404 No protein -
LRPPRC-242 ENST00000683236 369 55aa ENSP00000506891
LRPPRC-263 ENST00000684397 524 115aa ENSP00000508400
LRPPRC-211 ENST00000681961 4189 No protein -
LRPPRC-251 ENST00000683694 1802 No protein -
LRPPRC-256 ENST00000683989 3514 913aa ENSP00000507510
LRPPRC-205 ENST00000447246 2789 837aa ENSP00000403637
LRPPRC-202 ENST00000409659 2663 841aa ENSP00000386562
LRPPRC-213 ENST00000682104 2541 795aa ENSP00000507716
LRPPRC-255 ENST00000683934 2182 422aa ENSP00000508038
LRPPRC-210 ENST00000681959 1920 No protein -
LRPPRC-267 ENST00000684482 4440 430aa ENSP00000508104
LRPPRC-237 ENST00000683082 2182 No protein -
LRPPRC-207 ENST00000467058 613 No protein -
LRPPRC-203 ENST00000409946 1875 531aa ENSP00000386234
LRPPRC-233 ENST00000682999 2418 No protein -
LRPPRC-227 ENST00000682637 281 No protein -
LRPPRC-260 ENST00000684329 2040 No protein -
LRPPRC-269 ENST00000684691 880 No protein -
LRPPRC-221 ENST00000682496 680 No protein -

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
2527Body Weight6.46942529539519E-517903300
2592Body Weight4.40768165814054E-517903300
3467Cholesterol, HDL7.84783516712504E-517903299
28143Blood Glucose7.9570000E-005-
34770Platelet Function Tests1.0855100E-005-
34833Platelet Function Tests1.0845900E-005-
48606Child Development Disorders, Pervasive2.3762000E-005-
87689Intelligence9E-623358156

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id
ENSG00000138095

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id
ENSG00000138095homo_sapiensENSP0000026066597.345896.5567pan_paniscusENSPPAP0000003635097.766696.9741
ENSG00000138095homo_sapiensENSP0000026066597.919796.3415pongo_abeliiENSPPYP0000002477297.919796.3415
ENSG00000138095homo_sapiensENSP0000026066599.856599.6413pan_troglodytesENSPTRP0000008067599.856599.6413
ENSG00000138095homo_sapiensENSP0000026066529.124829.0531gorilla_gorillaENSGGOP0000005157299.754399.5086
ENSG00000138095homo_sapiensENSP0000026066578.981363.5581ornithorhynchus_anatinusENSOANP0000002312278.418863.1054
ENSG00000138095homo_sapiensENSP0000026066579.196665.7102sarcophilus_harrisiiENSSHAP0000004367474.193661.5591
ENSG00000138095homo_sapiensENSP0000026066555.451945.4806notamacropus_eugeniiENSMEUP0000000405960.390649.5312
ENSG00000138095homo_sapiensENSP0000026066592.611285.4376callithrix_jacchusENSCJAP0000000141892.148585.0107
ENSG00000138095homo_sapiensENSP0000026066594.763389.957macaca_fascicularisENSMFAP0000004186490.417585.8316
ENSG00000138095homo_sapiensENSP0000026066594.906790.0287macaca_mulattaENSMMUP0000004503794.702989.8354
ENSG00000138095homo_sapiensENSP0000026066594.691589.5983papio_anubisENSPANP0000000640290.349185.4894
ENSG00000138095homo_sapiensENSP0000026066595.193789.957mandrillus_leucophaeusENSMLEP0000003927994.989389.7638
ENSG00000138095homo_sapiensENSP0000026066588.020179.2683vulpes_vulpesENSVVUP0000000650187.831179.0981
ENSG00000138095homo_sapiensENSP0000026066586.370275.2511mus_spretusMGP_SPRETEiJ_P004767686.494375.3592
ENSG00000138095homo_sapiensENSP0000026066585.939778.0488equus_asinusENSEASP0000500667291.730583.3078
ENSG00000138095homo_sapiensENSP0000026066590.100482.066panthera_leoENSPLOP0000001370490.100482.066
ENSG00000138095homo_sapiensENSP0000026066589.454880.7747ailuropoda_melanoleucaENSAMEP0000000618089.390780.7168
ENSG00000138095homo_sapiensENSP0000026066586.657177.6184bos_indicus_hybridENSBIXP0000504009289.019979.7347
ENSG00000138095homo_sapiensENSP0000026066589.6781.3486oryctolagus_cuniculusENSOCUP0000001293985.792777.8312
ENSG00000138095homo_sapiensENSP0000026066590.028782.066equus_caballusENSECAP0000002124291.00882.9587
ENSG00000138095homo_sapiensENSP0000026066588.952779.9139canis_lupus_familiarisENSCAFP0084503613089.016579.9713
ENSG00000138095homo_sapiensENSP0000026066590.172282.1377panthera_pardusENSPPRP0000001332890.172282.1377
ENSG00000138095homo_sapiensENSP0000026066588.30779.9856marmota_marmota_marmotaENSMMMP0000001810588.054479.7568
ENSG00000138095homo_sapiensENSP0000026066589.598382.2095balaenoptera_musculusENSBMSP0001001700389.72782.3276
ENSG00000138095homo_sapiensENSP0000026066590.602682.7116felis_catusENSFCAP0000001249190.602682.7116
ENSG00000138095homo_sapiensENSP0000026066589.6780.7747ursus_americanusENSUAMP0000002984289.605780.7168
ENSG00000138095homo_sapiensENSP0000026066580.70366.858monodelphis_domesticaENSMODP0000000077580.128266.3818
ENSG00000138095homo_sapiensENSP0000026066589.383180.6313bison_bison_bisonENSBBBP0000002104089.383180.6313
ENSG00000138095homo_sapiensENSP0000026066589.454881.4204monodon_monocerosENSMMNP0001501868389.454881.4204
ENSG00000138095homo_sapiensENSP0000026066589.6781.2052sus_scrofaENSSSCP0000000902089.031380.6268
ENSG00000138095homo_sapiensENSP0000026066589.885282.6399microcebus_murinusENSMICP0000000957989.820882.5806
ENSG00000138095homo_sapiensENSP0000026066587.876678.1205octodon_degusENSODEP0000001518288.002978.2328
ENSG00000138095homo_sapiensENSP0000026066588.020179.1248jaculus_jaculusENSJJAP0000001956688.592179.639
ENSG00000138095homo_sapiensENSP0000026066589.167980.5595ovis_aries_rambouilletENSOARP0002000810489.167980.5595
ENSG00000138095homo_sapiensENSP0000026066589.526580.9182ursus_maritimusENSUMAP0000001743789.462480.8602
ENSG00000138095homo_sapiensENSP0000026066588.665780.7747delphinapterus_leucasENSDLEP0000000458588.793180.8908
ENSG00000138095homo_sapiensENSP0000026066589.813581.8508physeter_catodonENSPCTP0000501287788.355780.5222
ENSG00000138095homo_sapiensENSP0000026066586.441975.0359mus_caroliMGP_CAROLIEiJ_P004575586.566175.1437
ENSG00000138095homo_sapiensENSP0000026066586.226775.2511mus_musculusENSMUSP0000010792786.350675.3592
ENSG00000138095homo_sapiensENSP0000026066588.450579.4835dipodomys_ordiiENSDORP0000001150488.51479.5406
ENSG00000138095homo_sapiensENSP0000026066593.256885.868aotus_nancymaaeENSANAP0000001933892.790985.439
ENSG00000138095homo_sapiensENSP0000026066593.75985.9397saimiri_boliviensis_boliviensisENSSBOP0000000229093.691885.8781
ENSG00000138095homo_sapiensENSP0000026066553.012948.2066tupaia_belangeriENSTBEP0000000962352.861248.0687
ENSG00000138095homo_sapiensENSP0000026066587.446276.6141mesocricetus_auratusENSMAUP0000001161687.571876.7241
ENSG00000138095homo_sapiensENSP0000026066589.6781.5638phocoena_sinusENSPSNP0000000825889.6781.5638
ENSG00000138095homo_sapiensENSP0000026066589.885280.99camelus_dromedariusENSCDRP0000503218489.949781.0481
ENSG00000138095homo_sapiensENSP0000026066587.517980.6313carlito_syrichtaENSTSYP0000001210887.517980.6313
ENSG00000138095homo_sapiensENSP0000026066586.585476.3988rattus_norvegicusENSRNOP0000000820086.337676.1803
ENSG00000138095homo_sapiensENSP0000026066589.598382.9268prolemur_simusENSPSMP0000001149689.469982.808
ENSG00000138095homo_sapiensENSP0000026066587.804976.3271peromyscus_maniculatus_bairdiiENSPEMP0000002669588.375576.8231
ENSG00000138095homo_sapiensENSP0000026066589.167980.3443bos_mutusENSBMUP0000000844289.167980.3443
ENSG00000138095homo_sapiensENSP0000026066585.939775.2511mus_spicilegusENSMSIP0000001302386.311275.5764
ENSG00000138095homo_sapiensENSP0000026066581.635667.934vombatus_ursinusENSVURP0001002152481.054167.4501
ENSG00000138095homo_sapiensENSP0000026066590.530882.5681rhinolophus_ferrumequinumENSRFEP0001000956790.595882.6274
ENSG00000138095homo_sapiensENSP0000026066590.315681.5638neovison_visonENSNVIP0000002121490.250981.5054
ENSG00000138095homo_sapiensENSP0000026066589.239680.3443bos_taurusENSBTAP0000002177389.432180.5176
ENSG00000138095homo_sapiensENSP0000026066586.872377.1162heterocephalus_glaber_femaleENSHGLP0000000847586.872377.1162
ENSG00000138095homo_sapiensENSP0000026066593.615588.5222rhinopithecus_bietiENSRBIP0000001489793.147888.0799
ENSG00000138095homo_sapiensENSP0000026066588.378879.34canis_lupus_dingoENSCAFP0002003379388.18979.1696
ENSG00000138095homo_sapiensENSP0000026066589.454880.8465sciurus_vulgarisENSSVLP0000503107789.390780.7885
ENSG00000138095homo_sapiensENSP0000026066580.487868.2927phascolarctos_cinereusENSPCIP0000000830279.857767.758
ENSG00000138095homo_sapiensENSP0000026066587.087577.2597nannospalax_galiliENSNGAP0000001082987.087577.2597
ENSG00000138095homo_sapiensENSP0000026066589.311380.5595bos_grunniensENSBGRP0000000877189.311380.5595
ENSG00000138095homo_sapiensENSP0000026066588.809280.4878cervus_hanglu_yarkandensisENSCHYP0000002163188.809280.4878
ENSG00000138095homo_sapiensENSP0000026066589.311380.703catagonus_wagneriENSCWAP0000002452089.247380.6452
ENSG00000138095homo_sapiensENSP0000026066592.898185.3659cebus_imitatorENSCCAP0000002803292.831585.3047
ENSG00000138095homo_sapiensENSP0000026066589.6780.7747urocitellus_parryiiENSUPAP0001002630089.734480.8327
ENSG00000138095homo_sapiensENSP0000026066588.522280.1291moschus_moschiferusENSMMSP0000001504988.522280.1291
ENSG00000138095homo_sapiensENSP0000026066536.226735.4376rhinopithecus_roxellanaENSRROP0000003887195.103693.032
ENSG00000138095homo_sapiensENSP0000026066534.576831.5638rhinopithecus_roxellanaENSRROP0000002913789.925482.0896
ENSG00000138095homo_sapiensENSP0000026066586.513676.2554mus_pahariMGP_PahariEiJ_P004526986.637976.3649
ENSG00000138095homo_sapiensENSP0000026066589.096181.7791propithecus_coquereliENSPCOP0000000052689.610482.2511
ENSG00000138095homo_sapiensENSP0000026066547.202328.6227drosophila_melanogasterFBpp008063746.600628.2578
ENSG00000138095homo_sapiensENSP0000026066574.318558.1062callorhinchus_miliiENSCMIP0000000910172.195156.446
ENSG00000138095homo_sapiensENSP0000026066572.381653.0129clupea_harengusENSCHAP0000004248470.856751.8961
ENSG00000138095homo_sapiensENSP0000026066570.229651.363carassius_auratusENSCARP0000004972367.657249.4817
ENSG00000138095homo_sapiensENSP0000026066518.866614.2037carassius_auratusENSCARP0000004160566.414150
ENSG00000138095homo_sapiensENSP0000026066525.466320.5165astyanax_mexicanusENSAMXP0000000434468.532855.2124
ENSG00000138095homo_sapiensENSP0000026066570.37351.363ictalurus_punctatusENSIPUP0000001374667.842349.5159
ENSG00000138095homo_sapiensENSP0000026066565.49547.4175esox_luciusENSELUP0000005362066.015947.7947
ENSG00000138095homo_sapiensENSP0000026066569.655750.9326electrophorus_electricusENSEEEP0000001500667.477449.3398
ENSG00000138095homo_sapiensENSP0000026066572.238252.9412oncorhynchus_kisutchENSOKIP0000503968669.209650.7216
ENSG00000138095homo_sapiensENSP0000026066572.381652.9412oncorhynchus_mykissENSOMYP0000005788369.347150.7216
ENSG00000138095homo_sapiensENSP0000026066571.664352.5825salmo_salarENSSSAP0000014589868.098249.9659
ENSG00000138095homo_sapiensENSP0000026066571.951252.8694salmo_truttaENSSTUP0000001653568.934750.6529
ENSG00000138095homo_sapiensENSP0000026066566.642847.4892gadus_morhuaENSGMOP0000004171363.025844.9118
ENSG00000138095homo_sapiensENSP0000026066568.005749.0674poecilia_reticulataENSPREP0000000529066.713648.1351
ENSG00000138095homo_sapiensENSP0000026066570.875251.2912cyclopterus_lumpusENSCLMP0000504928268.754349.7564
ENSG00000138095homo_sapiensENSP0000026066570.946950.7891oreochromis_niloticusENSONIP0000000116167.278948.1633
ENSG00000138095homo_sapiensENSP0000026066570.6650.8608haplochromis_burtoniENSHBUP0000002913367.604748.6616
ENSG00000138095homo_sapiensENSP0000026066570.731751.6499sparus_aurataENSSAUP0001005977368.519850.0347
ENSG00000138095homo_sapiensENSP0000026066522.381615.7102lates_calcariferENSLCAP0001002731156.521739.6739
ENSG00000138095homo_sapiensENSP0000026066575.896759.8278xenopus_tropicalisENSXETP0000002043576.060459.9569
ENSG00000138095homo_sapiensENSP0000026066576.757562.8407chrysemys_picta_belliiENSCPBP0000000691976.592762.7058
ENSG00000138095homo_sapiensENSP0000026066568.579653.9455sphenodon_punctatusENSSPUP0000000674076.602660.2564
ENSG00000138095homo_sapiensENSP0000026066565.423247.7044crocodylus_porosusENSCPRP0000502210567.157648.9691
ENSG00000138095homo_sapiensENSP0000026066566.284149.2109laticauda_laticaudataENSLLTP0000000619069.578351.6566
ENSG00000138095homo_sapiensENSP0000026066567.93450.7174notechis_scutatusENSNSUP0000001997268.772751.3435
ENSG00000138095homo_sapiensENSP0000026066558.680143.9742pseudonaja_textilisENSPTXP0000000173168.337551.2114
ENSG00000138095homo_sapiensENSP0000026066544.045934.0029anas_platyrhynchos_platyrhynchosENSAPLP0000000868571.645355.3092
ENSG00000138095homo_sapiensENSP0000026066511.26269.54089anas_platyrhynchos_platyrhynchosENSAPLP0000002070273.708962.4413
ENSG00000138095homo_sapiensENSP0000026066571.090455.5954gallus_gallusENSGALP0001002910869.887254.6544
ENSG00000138095homo_sapiensENSP0000026066564.777651.6499meleagris_gallopavoENSMGAP0000001058472.471957.7849
ENSG00000138095homo_sapiensENSP0000026066564.992850.8608serinus_canariaENSSCAP0000001411271.114655.6515
ENSG00000138095homo_sapiensENSP0000026066564.921150.1435parus_majorENSPMJP0000001936568.978753.2774
ENSG00000138095homo_sapiensENSP0000026066575.251159.7561anolis_carolinensisENSACAP0000002216274.4559.1199
ENSG00000138095homo_sapiensENSP0000026066554.375941.4634naja_najaENSNNAP0000000094268.043151.8851
ENSG00000138095homo_sapiensENSP0000026066569.655755.5237podarcis_muralisENSPMRP0000003148672.086157.461
ENSG00000138095homo_sapiensENSP0000026066569.081853.8737geospiza_fortisENSGFOP0000000887472.134856.2547
ENSG00000138095homo_sapiensENSP0000026066569.0154.0172taeniopygia_guttataENSTGUP0000000389670.270355.0037
ENSG00000138095homo_sapiensENSP0000026066571.449154.4476erpetoichthys_calabaricusENSECRP0000002430872.383755.1599
ENSG00000138095homo_sapiensENSP0000026066567.216646.6284kryptolebias_marmoratusENSKMAP0000000431156.995139.5377
ENSG00000138095homo_sapiensENSP0000026066572.166455.6671salvator_merianaeENSSMRP0000002386272.218255.7071
ENSG00000138095homo_sapiensENSP0000026066569.727450.4304oryzias_javanicusENSOJAP0000002853468.741249.7171
ENSG00000138095homo_sapiensENSP0000026066564.562444.9067dicentrarchus_labraxENSDLAP0000505453364.469944.8424
ENSG00000138095homo_sapiensENSP0000026066576.398862.8407gopherus_evgoodeiENSGEVP0000500941876.125862.6162
ENSG00000138095homo_sapiensENSP0000026066567.575355.5954chelonoidis_abingdoniiENSCABP0000002086974.880861.6057
ENSG00000138095homo_sapiensENSP0000026066569.799149.9283seriola_dumeriliENSSDUP0000002629368.089648.7054
ENSG00000138095homo_sapiensENSP0000026066568.507947.2023cottoperca_gobioENSCGOP0000005071767.111746.2403
ENSG00000138095homo_sapiensENSP0000026066571.73657.1736struthio_camelus_australisENSSCUP0000000902973.206458.3455
ENSG00000138095homo_sapiensENSP0000026066564.634150.8608anser_brachyrhynchusENSABRP0000000591872.369556.9478
ENSG00000138095homo_sapiensENSP0000026066561.047341.5352cynoglossus_semilaevisENSCSEP0000000600261.62241.9261
ENSG00000138095homo_sapiensENSP0000026066566.85847.9197myripristis_murdjanENSMMDP0000502725064.767246.4211
ENSG00000138095homo_sapiensENSP0000026066570.803451.076sander_luciopercaENSSLUP0000003799668.828549.6513
ENSG00000138095homo_sapiensENSP0000026066571.592556.3128strigops_habroptilaENSSHBP0000501612672.846757.2993
ENSG00000138095homo_sapiensENSP0000026066576.614162.9125terrapene_carolina_triunguisENSTMTP0000000651976.449562.7774
ENSG00000138095homo_sapiensENSP0000026066569.870951.5065hucho_huchoENSHHUP0000005402670.733552.1423
ENSG00000138095homo_sapiensENSP0000026066568.507948.9957betta_splendensENSBSLP0000005344466.829947.7957
ENSG00000138095homo_sapiensENSP0000026066570.875252.5825pygocentrus_nattereriENSPNAP0000000805069.139351.2946
ENSG00000138095homo_sapiensENSP0000026066570.37351.363anabas_testudineusENSATEP0000006015669.035950.3871
ENSG00000138095homo_sapiensENSP0000026066560.545243.1851seriola_lalandi_dorsalisENSSLDP0000002993267.900248.4312
ENSG00000138095homo_sapiensENSP0000026066564.13246.1263labrus_bergyltaENSLBEP0000003095165.255546.9343
ENSG00000138095homo_sapiensENSP0000026066564.562448.2066mastacembelus_armatusENSMAMP0000003628967.114150.1119
ENSG00000138095homo_sapiensENSP0000026066562.266945.7676oncorhynchus_tshawytschaENSOTSP0000502570769.108350.7962
ENSG00000138095homo_sapiensENSP0000026066570.37350.9326acanthochromis_polyacanthusENSAPOP0000003020668.793849.7896
ENSG00000138095homo_sapiensENSP0000026066572.668657.1736aquila_chrysaetos_chrysaetosENSACCP0002001460673.887758.1328
ENSG00000138095homo_sapiensENSP0000026066564.347246.5567nothobranchius_furzeriENSNFUP0001500472866.493748.1097
ENSG00000138095homo_sapiensENSP0000026066572.525153.0846denticeps_clupeoidesENSDCDP0000002531771.147152.076
ENSG00000138095homo_sapiensENSP0000026066569.799150.9326larimichthys_croceaENSLCRP0000501902767.663449.3741
ENSG00000138095homo_sapiensENSP0000026066569.870951.1478takifugu_rubripesENSTRUP0000002105968.111949.8601
ENSG00000138095homo_sapiensENSP0000026066569.727453.5151ficedula_albicollisENSFALP0000001329472.80955.8801
ENSG00000138095homo_sapiensENSP0000026066567.575348.9957hippocampus_comesENSHCOP0000000118168.310449.5286
ENSG00000138095homo_sapiensENSP0000026066568.651449.8565cyprinus_carpio_carpioENSCCRP0000016046967.824249.2558
ENSG00000138095homo_sapiensENSP0000026066570.731751.8651cyprinus_carpio_carpioENSCCRP0000016996668.235350.0346
ENSG00000138095homo_sapiensENSP0000026066564.060351.2195coturnix_japonicaENSCJPP0000501182770.929356.7117
ENSG00000138095homo_sapiensENSP0000026066568.507949.6413poecilia_latipinnaENSPLAP0000002078967.634649.0085
ENSG00000138095homo_sapiensENSP0000026066552.080337.4462sinocyclocheilus_grahamiENSSGRP0000004702563.185445.4308
ENSG00000138095homo_sapiensENSP0000026066564.705947.1306sinocyclocheilus_grahamiENSSGRP0000001658664.474646.9621
ENSG00000138095homo_sapiensENSP0000026066559.540944.5481paramormyrops_kingsleyaeENSPKIP0000000574666.935550.0806
ENSG00000138095homo_sapiensENSP0000026066569.081850.8608scleropages_formosusENSSFOP0001500145666.551548.9979
ENSG00000138095homo_sapiensENSP0000026066568.938351.6499leptobrachium_leishanenseENSLLEP0000001072568.839551.5759
ENSG00000138095homo_sapiensENSP0000026066565.351544.835scophthalmus_maximusENSSMAP0000004686463.929843.8596

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000794located_in condensed nuclear chromosome1IDAHomo_sapiens(9606)Component
GO:0000957involved_in mitochondrial RNA catabolic process1IEAHomo_sapiens(9606)Process
GO:0000961involved_in negative regulation of mitochondrial RNA catabolic process1IEAHomo_sapiens(9606)Process
GO:0003697enables single-stranded DNA binding1IEAHomo_sapiens(9606)Function
GO:0003723enables RNA binding2HDA,NASHomo_sapiens(9606)Function
GO:0003730enables mRNA 3-UTR binding1IBAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634is_active_in nucleus2IBA,IDAHomo_sapiens(9606)Component
GO:0005637located_in nuclear inner membrane1IEAHomo_sapiens(9606)Component
GO:0005640located_in nuclear outer membrane1IEAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm1IEAHomo_sapiens(9606)Component
GO:0005739is_active_in mitochondrion3IBA,IDAHomo_sapiens(9606)Component
GO:0005856located_in cytoskeleton1IDAHomo_sapiens(9606)Component
GO:0005874located_in microtubule1IDAHomo_sapiens(9606)Component
GO:0008017enables microtubule binding1TASHomo_sapiens(9606)Function
GO:0016020located_in membrane1HDAHomo_sapiens(9606)Component
GO:0031625enables ubiquitin protein ligase binding1IPIHomo_sapiens(9606)Function
GO:0042645located_in mitochondrial nucleoid1IDAHomo_sapiens(9606)Component
GO:0047497involved_in mitochondrion transport along microtubule1TASHomo_sapiens(9606)Process
GO:0048471located_in perinuclear region of cytoplasm1IDAHomo_sapiens(9606)Component
GO:0048487enables beta-tubulin binding1IDAHomo_sapiens(9606)Function
GO:0051015NOT enables actin filament binding1IDAHomo_sapiens(9606)Function
GO:0051028involved_in mRNA transport1IEAHomo_sapiens(9606)Process
GO:0070129involved_in regulation of mitochondrial translation1IBAHomo_sapiens(9606)Process
GO:1990904part_of ribonucleoprotein complex1IEAHomo_sapiens(9606)Component

Expression