Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions N.A.
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000119878 Gene ID 9419 Accession 14312
Symbol CRIPT Alias SSMDF;HSPC139 Full Name CXXC repeat containing interactor of PDZ3 domain
Status Confidence Length 12962 bases Strand Plus strand
Position 2 : 46617215 - 46630176 RNA binding domain N.A.
Summary This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
28476223 Genetics of Short Stature. Hee Youn Jee 2017-06-01 Endocrinology and metabolism clinics of North America

Transcripts

Name Transcript ID bp Protein Translation ID
CRIPT-202 ENST00000486447 1724 No protein -
CRIPT-201 ENST00000238892 6323 101aa ENSP00000238892

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
6689Platelet Aggregation6.89189881519342E-617903294
6704Platelet Aggregation5.06686472749397E-617903294
9212Echocardiography5.48353176781026E-517903301
30838Erythrocyte Indices3.4030000E-005-
30881Erythrocyte Indices5.7000000E-005-
62013Alcohol Drinking8E-724376456
62014Blood Pressure8E-724376456
84563Body Height3E-1320881960
87875Alcohol Drinking1E-624376456
87876Blood Pressure1E-624376456
88561Alzheimer Disease2E-628247064
88562Cerebrospinal Fluid2E-628247064
88563tau Proteins2E-628247064

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:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005681part_of spliceosomal complex1IEAHomo_sapiens(9606)Component
GO:0005737located_in cytoplasm1IEAHomo_sapiens(9606)Component
GO:0006397involved_in mRNA processing1IEAHomo_sapiens(9606)Process
GO:0008017enables microtubule binding2IBA,ISSHomo_sapiens(9606)Function
GO:0008380involved_in RNA splicing1IEAHomo_sapiens(9606)Process
GO:0014069located_in postsynaptic density1ISSHomo_sapiens(9606)Component
GO:0030165enables PDZ domain binding2IBA,IDAHomo_sapiens(9606)Function
GO:0030425is_active_in dendrite2IBA,ISSHomo_sapiens(9606)Component
GO:0031122involved_in cytoplasmic microtubule organization2IBA,ISSHomo_sapiens(9606)Process
GO:0035372involved_in protein localization to microtubule1ISSHomo_sapiens(9606)Process
GO:0043025located_in neuronal cell body1ISSHomo_sapiens(9606)Component
GO:0043197located_in dendritic spine1ISSHomo_sapiens(9606)Component
GO:0043198located_in dendritic shaft1ISSHomo_sapiens(9606)Component
GO:0044877enables protein-containing complex binding1ISSHomo_sapiens(9606)Function
GO:0045184involved_in establishment of protein localization1ISSHomo_sapiens(9606)Process
GO:0097110enables scaffold protein binding1IDAHomo_sapiens(9606)Function
GO:0098978located_in glutamatergic synapse1IEAHomo_sapiens(9606)Component
GO:0099092located_in postsynaptic density, intracellular component1IEAHomo_sapiens(9606)Component
GO:0099151involved_in regulation of postsynaptic density assembly1IEAHomo_sapiens(9606)Process
GO:1902897involved_in regulation of postsynaptic density protein 95 clustering1ISSHomo_sapiens(9606)Process

Expression