Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzymeE3 ligase
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000177565 Gene ID 79718 Accession 29529
Symbol TBL1XR1 Alias C21;DC42;IRA1;MRD41;TBLR1 Full Name TBL1X/Y related 1
Status Confidence Length 208657 bases Strand Minus strand
Position 3 : 177019344 - 177228000 RNA binding domain eIF2A
Summary This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000490514 eIF2A PF08662 4.8e-06 1

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
TBL1XR1-227 ENST00000636864 6888 No protein -
TBL1XR1-214 ENST00000457928 8182 514aa ENSP00000413251
TBL1XR1-208 ENST00000430069 7948 514aa ENSP00000405574
TBL1XR1-237 ENST00000704383 8082 514aa ENSP00000515885
TBL1XR1-232 ENST00000637659 3105 271aa ENSP00000490514
TBL1XR1-215 ENST00000474363 6229 No protein -
TBL1XR1-236 ENST00000673974 6502 514aa ENSP00000501274
TBL1XR1-221 ENST00000631253 4186 474aa ENSP00000486324
TBL1XR1-209 ENST00000431421 3814 427aa ENSP00000402402
TBL1XR1-201 ENST00000352800 2454 514aa ENSP00000263964
TBL1XR1-203 ENST00000422066 2619 514aa ENSP00000398477
TBL1XR1-204 ENST00000422442 2535 514aa ENSP00000387849
TBL1XR1-238 ENST00000704384 1991 514aa ENSP00000515886
TBL1XR1-217 ENST00000626758 355 67aa ENSP00000486622
TBL1XR1-239 ENST00000704385 1902 514aa ENSP00000515887
TBL1XR1-235 ENST00000638074 100 No protein -
TBL1XR1-225 ENST00000636348 100 No protein -
TBL1XR1-222 ENST00000635757 100 No protein -
TBL1XR1-233 ENST00000637681 100 No protein -
TBL1XR1-207 ENST00000428970 575 75aa ENSP00000391559
TBL1XR1-205 ENST00000424913 592 73aa ENSP00000404863
TBL1XR1-211 ENST00000437738 565 145aa ENSP00000392180
TBL1XR1-223 ENST00000635794 768 131aa ENSP00000490246
TBL1XR1-219 ENST00000630796 656 122aa ENSP00000486235
TBL1XR1-213 ENST00000450267 588 120aa ENSP00000406297
TBL1XR1-220 ENST00000630833 567 105aa ENSP00000486082
TBL1XR1-210 ENST00000431674 559 96aa ENSP00000397450
TBL1XR1-212 ENST00000443315 580 81aa ENSP00000396120
TBL1XR1-218 ENST00000627825 312 No protein -
TBL1XR1-206 ENST00000427349 554 61aa ENSP00000401044
TBL1XR1-202 ENST00000413084 592 33aa ENSP00000415506
TBL1XR1-230 ENST00000637137 107 No protein -
TBL1XR1-216 ENST00000491623 582 No protein -
TBL1XR1-231 ENST00000637544 214 No protein -
TBL1XR1-226 ENST00000636478 100 No protein -
TBL1XR1-234 ENST00000637755 98 No protein -
TBL1XR1-224 ENST00000636187 171 No protein -
TBL1XR1-228 ENST00000636912 100 No protein -
TBL1XR1-229 ENST00000637123 138 No protein -

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID

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

Orthologs

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

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000118part_of histone deacetylase complex2IBA,IDAHomo_sapiens(9606)Component
GO:0000122involved_in negative regulation of transcription by RNA polymerase II1IDAHomo_sapiens(9606)Process
GO:0000976enables transcription cis-regulatory region binding2IDA,ISSHomo_sapiens(9606)Function
GO:0001835involved_in blastocyst hatching1IEAHomo_sapiens(9606)Process
GO:0002021involved_in response to dietary excess1IEAHomo_sapiens(9606)Process
GO:0003714enables transcription corepressor activity3IBA,IDA,IGIHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634located_in nucleus1IDAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm1TASHomo_sapiens(9606)Component
GO:0006325involved_in chromatin organization1IEAHomo_sapiens(9606)Process
GO:0006357involved_in regulation of transcription by RNA polymerase II1IBAHomo_sapiens(9606)Process
GO:0008013enables beta-catenin binding1IPIHomo_sapiens(9606)Function
GO:0016042involved_in lipid catabolic process1IEAHomo_sapiens(9606)Process
GO:0017053part_of transcription repressor complex1IDAHomo_sapiens(9606)Component
GO:0035264involved_in multicellular organism growth1IEAHomo_sapiens(9606)Process
GO:0042393enables histone binding1IDAHomo_sapiens(9606)Function
GO:0043161involved_in proteasome-mediated ubiquitin-dependent protein catabolic process1ISSHomo_sapiens(9606)Process
GO:0045893involved_in positive regulation of DNA-templated transcription1IDAHomo_sapiens(9606)Process
GO:0045944involved_in positive regulation of transcription by RNA polymerase II1IDAHomo_sapiens(9606)Process
GO:0050872involved_in white fat cell differentiation1IEAHomo_sapiens(9606)Process
GO:0060613involved_in fat pad development1IEAHomo_sapiens(9606)Process
GO:0072686located_in mitotic spindle1IDAHomo_sapiens(9606)Component
GO:0090207involved_in regulation of triglyceride metabolic process1IEAHomo_sapiens(9606)Process
GO:0090263involved_in positive regulation of canonical Wnt signaling pathway1IMPHomo_sapiens(9606)Process

Expression