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    CRTAC1 cartilage acidic protein 1 [ Homo sapiens (human) ]

    Gene ID: 55118, updated on 22-Jun-2021

    Summary

    Official Symbol
    CRTAC1provided by HGNC
    Official Full Name
    cartilage acidic protein 1provided by HGNC
    Primary source
    HGNC:HGNC:14882
    See related
    Ensembl:ENSG00000095713 MIM:606276
    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
    ASPIC; CEP68; LOTUS; ASPIC1; CEP-68
    Summary
    This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
    Expression
    Biased expression in lung (RPKM 23.3), brain (RPKM 10.1) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CRTAC1 in Genome Data Viewer
    Location:
    10q24.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (97854711..98030621, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99624757..99790378, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10024 Neighboring gene uncharacterized LOC107984260 Neighboring gene GOLGA7B divergent transcript Neighboring gene golgin A7 family member B Neighboring gene Sharpr-MPRA regulatory region 340 Neighboring gene microRNA 3085 Neighboring gene R3H domain and coiled-coil containing 1 like Neighboring gene lysyl oxidase like 4

    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
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10320

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axonal fasciculation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    cartilage acidic protein 1
    Names
    acidic secreted protein in cartilage
    chondrocyte expressed protein 68 kDa CEP-68

    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_029831.1 RefSeqGene

      Range
      5208..170829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206528.3NP_001193457.1  cartilage acidic protein 1 isoform B precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as CRTAC1-B) includes alternate exon structure at its 3' end, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (B) has a shorter and distinct C-terminus, compared to isoform A. This variant is supported by data in PMID:17074475.
      Source sequence(s)
      AJ421515, AK057190
      Consensus CDS
      CCDS55723.1
      UniProtKB/Swiss-Prot
      Q9NQ79
      Related
      ENSP00000359623.2, ENST00000370591.6
      Conserved Domains (3) summary
      pfam07593
      Location:460518
      UnbV_ASPIC; ASPIC and UnbV
      pfam07645
      Location:559605
      EGF_CA; Calcium-binding EGF domain
      pfam13517
      Location:299363
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella
    2. NM_018058.7NP_060528.3  cartilage acidic protein 1 isoform A precursor

      See identical proteins and their annotated locations for NP_060528.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as CRTAC1-A) represents the longer transcript and encodes the longer isoform (A).
      Source sequence(s)
      AA485276, AJ276171, AK057190
      Consensus CDS
      CCDS31266.1
      UniProtKB/Swiss-Prot
      Q9NQ79
      Related
      ENSP00000359629.3, ENST00000370597.8
      Conserved Domains (3) summary
      pfam07593
      Location:460518
      UnbV_ASPIC; ASPIC and UnbV
      pfam07645
      Location:559605
      EGF_CA; Calcium-binding EGF domain
      pfam13517
      Location:299363
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      97854711..98030621 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539917.1XP_011538219.1  cartilage acidic protein 1 isoform X2

      Conserved Domains (3) summary
      pfam07593
      Location:460518
      UnbV_ASPIC; ASPIC and UnbV
      pfam07645
      Location:559605
      EGF_CA; Calcium-binding EGF domain
      pfam13517
      Location:299363
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella
    2. XM_017016367.1XP_016871856.1  cartilage acidic protein 1 isoform X4

    3. XM_017016366.1XP_016871855.1  cartilage acidic protein 1 isoform X1

    4. XM_005269938.4XP_005269995.1  cartilage acidic protein 1 isoform X3

      Conserved Domains (3) summary
      pfam07593
      Location:460518
      UnbV_ASPIC; ASPIC and UnbV
      pfam07645
      Location:559605
      EGF_CA; Calcium-binding EGF domain
      pfam13517
      Location:299363
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella
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