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

    Gene ID: 9419, updated on 9-Dec-2024

    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
    RTS3; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CRIPT in Genome Data Viewer
    Location:
    2p21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (46617215..46630176)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (46622209..46635170)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (46844354..46857315)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ras homolog family member Q Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15714 Neighboring gene RHOQ antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:46813126-46813309 Neighboring gene uncharacterized LOC124906003 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class F Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11452 Neighboring gene uncharacterized LOC105374584 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:46908587-46908781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11454 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:46926130-46926646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11456 Neighboring gene suppressor of cytokine signaling 5 Neighboring gene Sharpr-MPRA regulatory region 6790

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Rothmund-Thomson syndrome, type 3
    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
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13202

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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

    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)

    NEW Try the new Transcript table

    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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      46622209..46635170
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)