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

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; AllianceGenome:HGNC:14312
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: mouse all
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Genomic context

Location:: 2p21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (46617215..46630176)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (46622209..46635170)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (46844354..46857315)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Title: Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Mitotic spindle disassembly in human cells relies on CRIPT having hierarchical redox signals.
Title: Mitotic spindle disassembly in human cells relies on CRIPT having hierarchical redox signals.
Divergent Evolution of a Protein-Protein Interaction Revealed through Ancestral Sequence Reconstruction and Resurrection.
Title: Divergent Evolution of a Protein-Protein Interaction Revealed through Ancestral Sequence Reconstruction and Resurrection.
The PSD-95 GK domain binds to Gnb5, and this interaction is triggered by CRIPT-derived PDZ3 ligands binding to the third PDZ domain of PSD-95, unraveling a hierarchical binding mechanism of PSD-95 complex formation.
Title: Intramolecular domain dynamics regulate synaptic MAGUK protein interactions.
we describe a third patient with defects in the CRIPT gene responsible for short stature, microcephaly, and distinctive facies [MIM:615789]. The clinical presentation of our patient expands the phenotype of CRIPT mutations to include postnatal growth delay, distinct from primordial dwarfism.
Title: CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
Observational study of gene-disease association. (HuGE Navigator)
Title: Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Short stature with microcephaly and distinctive facies MedGen: C4014339 OMIM: 615789 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93353 (e-PCR)
- UniSTS:90375

Bdaa4f11 (e-PCR)
- UniSTS:52313

SHGC-35061 (e-PCR)
- UniSTS:63712

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables PDZ domain binding	IBA Inferred from Biological aspect of Ancestor more info
enables PDZ domain binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables scaffold protein binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic microtubule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoplasmic microtubule organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in protein localization to microtubule	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of postsynaptic density assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic density protein 95 clustering	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic shaft	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic density, intracellular component	IEA Inferred from Electronic Annotation more info
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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.