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    CRTAP cartilage associated protein [ Homo sapiens (human) ]

    Gene ID: 10491, updated on 5-Mar-2024

    Summary

    Official Symbol
    CRTAPprovided by HGNC
    Official Full Name
    cartilage associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:2379
    See related
    Ensembl:ENSG00000170275 MIM:605497; AllianceGenome:HGNC:2379
    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
    OI7; CASP; P3H5; LEPREL3
    Summary
    The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 41.9), ovary (RPKM 29.9) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    3p22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (33114014..33147773)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (33115771..33149528)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (33155506..33189265)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene galactosidase beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19645 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14184 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:33156217-33157208 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:33157792-33157940 Neighboring gene RNA, 7SL, cytoplasmic 296, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19647 Neighboring gene transmembrane protein with metallophosphoesterase domain Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:33194307-33195506 Neighboring gene Sharpr-MPRA regulatory region 10469 Neighboring gene sushi domain containing 5 Neighboring gene uncharacterized LOC124909362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14185 Neighboring gene F-box and leucine rich repeat protein 2

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to collagen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein folding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in collagen fibril organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of post-translational protein modification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peptidyl-proline hydroxylation to 3-hydroxy-L-proline IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    cartilage-associated protein
    Names
    leprecan-like 3
    prolyl 3-hydroxylase family member 5 (non-enzymatic)

    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_008122.1 RefSeqGene

      Range
      5001..38816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_4

    mRNA and Protein(s)

    1. NM_001393363.1NP_001380292.1  cartilage-associated protein isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC112211
      UniProtKB/TrEMBL
      B3KME2
    2. NM_001393364.1NP_001380293.1  cartilage-associated protein isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC112211
      Consensus CDS
      CCDS93231.1
      UniProtKB/TrEMBL
      B3KME2, C9JP16
      Related
      ENSP00000409997.1, ENST00000449224.1
    3. NM_001393365.1NP_001380294.1  cartilage-associated protein isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC112211
      UniProtKB/TrEMBL
      B3KME2
    4. NM_006371.5NP_006362.1  cartilage-associated protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_006362.1

      Status: REVIEWED

      Source sequence(s)
      AC112211, AJ006470, AK027235, DA335701
      Consensus CDS
      CCDS2657.1
      UniProtKB/Swiss-Prot
      B2RBL6, O75718
      UniProtKB/TrEMBL
      B3KME2
      Related
      ENSP00000323696.5, ENST00000320954.11

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      33114014..33147773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      33115771..33149528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)