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CRIPT CXXC repeat containing interactor of PDZ3 domain [ Homo sapiens (human) ]

Gene ID: 9419, updated on 22-Aug-2020

Summary

Official Symbol
CRIPTprovided by HGNC
Official Full Name
CXXC repeat containing interactor of PDZ3 domainprovided by HGNC
Primary source
HGNC:HGNC:14312
See related
Ensembl:ENSG00000119878 MIM:604594
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SSMDF; HSPC139
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]
Expression
Ubiquitous expression in brain (RPKM 3.3), adrenal (RPKM 2.2) and 25 other tissues See more
Orthologs

Genomic context

See CRIPT in Genome Data Viewer
Location:
2p21
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (46617215..46630176)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (46844325..46852881)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ras homolog family member Q Neighboring gene RHOQ antisense RNA 1 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class F Neighboring gene uncharacterized LOC105374584 Neighboring gene suppressor of cytokine signaling 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
GeneReviews: Not available
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
GeneReviews: Not available
Short stature with microcephaly and distinctive facies
MedGen: C4014339 OMIM: 615789 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13202

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PDZ domain binding IDA
Inferred from Direct Assay
more info
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding ISS
Inferred from Sequence or Structural Similarity
more info
 
scaffold protein binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic microtubule organization ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to microtubule ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of postsynaptic density protein 95 clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic shaft ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
cysteine-rich PDZ-binding protein
Names
cysteine-rich interactor of PDZ three
cysteine-rich interactor of PDZ3
postsynaptic protein CRIPT

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034144.1 RefSeqGene

    Range
    5044..18005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014171.6NP_054890.1  cysteine-rich PDZ-binding protein

    See identical proteins and their annotated locations for NP_054890.1

    Status: REVIEWED

    Source sequence(s)
    AC018682, AK291298
    Consensus CDS
    CCDS1829.1
    UniProtKB/Swiss-Prot
    Q9P021
    Related
    ENSP00000238892.3, ENST00000238892.4
    Conserved Domains (1) summary
    pfam10235
    Location:1199
    Cript; Microtubule-associated protein CRIPT

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    46617215..46630176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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