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

    Gene ID: 55118, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:14882
    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
    mouse all
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    Genomic context

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    See CRTAC1 in Genome Data Viewer
    Location:
    10q24.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (97865000..98030621, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (98745137..98911010, complement)
    RS_2024_09 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 secreted frizzled related protein 5 Neighboring gene uncharacterized LOC107984260 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:99599631-99600830 Neighboring gene GOLGA7B divergent transcript Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99601331-99602273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:99635581-99636081 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:99641761-99642960 Neighboring gene golgin A7 family member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99647957-99648570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99648571-99649183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99649184-99649796 Neighboring gene microRNA 3085 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:99674250-99674826 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:99712853-99713551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:99734921-99735522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:99734318-99734920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3860 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:99885542-99886741 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99894841-99895630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99911422-99912174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99913678-99914428 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:99912926-99913677 Neighboring gene R3H domain and coiled-coil containing 1 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3863 Neighboring gene NANOG hESC enhancer GRCh37_chr10:99933024-99933525 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99983165-99983698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99983699-99984230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100021241-100022130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100026897-100027398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100027399-100027898 Neighboring gene lysyl oxidase like 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. CRTAC1 identified as a promising diagnosis and prognostic biomarker in lung adenocarcinoma. Tan L, et al. Sci Rep, 2024 May 16. PMID 38755183, Free PMC Article
    2. Chondrocyte secreted CRTAC1: a glycosylated extracellular matrix molecule of human articular cartilage. Steck E, et al. Matrix Biol, 2007 Jan. PMID 17074475
    3. Comparative analysis of human conjunctival and corneal epithelial gene expression with oligonucleotide microarrays. Turner HC, et al. Invest Ophthalmol Vis Sci, 2007 May. PMID 17460260, Free PMC Article
    4. Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. Brems H, et al. Cancer Res, 2009 Sep 15. PMID 19738042, Free PMC Article
    5. Genes up- or down-regulated by high calcium medium in parathyroid tissue explants from patients with primary hyperparathyroidism. Nakajima K, et al. Endocr J, 2010. PMID 19952464

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CRTAC1 has a Compact beta-propeller-TTR Core Stabilized by Potassium Ions.
      Title: CRTAC1 has a Compact β-propeller-TTR Core Stabilized by Potassium Ions.
    2. CRTAC1 identified as a promising diagnosis and prognostic biomarker in lung adenocarcinoma.
      Title: CRTAC1 identified as a promising diagnosis and prognostic biomarker in lung adenocarcinoma.
    3. Proteomic Analyses of Autologous Chondrocyte Implantation Plasma Highlight Cartilage Acidic Protein 1 as a Candidate for Preclinical Screening.
      Title: Proteomic Analyses of Autologous Chondrocyte Implantation Plasma Highlight Cartilage Acidic Protein 1 as a Candidate for Preclinical Screening.
    4. Cartilage Acidic Protein 1 in Plasma Associates With Prevalent Osteoarthritis and Predicts Future Risk as Well as Progression to Joint Replacements: Results From the UK Biobank Resource.
      Title: Cartilage Acidic Protein 1 in Plasma Associates With Prevalent Osteoarthritis and Predicts Future Risk as Well as Progression to Joint Replacements: Results From the UK Biobank Resource.
    5. Plasma proteomics identifies CRTAC1 as a biomarker for osteoarthritis severity and progression.
      Title: Plasma proteomics identifies CRTAC1 as a biomarker for osteoarthritis severity and progression.
    6. The oncogenic role of TFAP2A in bladder urothelial carcinoma via a novel long noncoding RNA TPRG1-AS1/DNMT3A/CRTAC1 axis.
      Title: The oncogenic role of TFAP2A in bladder urothelial carcinoma via a novel long noncoding RNA TPRG1-AS1/DNMT3A/CRTAC1 axis.
    7. Mass spectrometry-based proteomics identify novel serum osteoarthritis biomarkers.
      Title: Mass spectrometry-based proteomics identify novel serum osteoarthritis biomarkers.
    8. Deciphering the role of cartilage protein 1 in human dermal fibroblasts: a transcriptomic approach.
      Title: Deciphering the role of cartilage protein 1 in human dermal fibroblasts: a transcriptomic approach.
    9. CRTAC1 (Cartilage acidic protein 1) inhibits cell proliferation, migration, invasion and epithelial-mesenchymal transition (EMT) process in bladder cancer by downregulating Yin Yang 1 (YY1) to inactivate the TGF-beta pathway.
      Title: CRTAC1 (Cartilage acidic protein 1) inhibits cell proliferation, migration, invasion and epithelial-mesenchymal transition (EMT) process in bladder cancer by downregulating Yin Yang 1 (YY1) to inactivate the TGF-β pathway.
    10. The CRTAC1 Protein in Plasma Is Associated With Osteoarthritis and Predicts Progression to Joint Replacement: A Large-Scale Proteomics Scan in Iceland.
      Title: The CRTAC1 Protein in Plasma Is Associated With Osteoarthritis and Predicts Progression to Joint Replacement: A Large-Scale Proteomics Scan in Iceland.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    EBI GWAS Catalog

    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

    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
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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

    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.

    Genomic

    1. NG_029831.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001206528.3 → NP_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/TrEMBL
      A0A0C4DFP6
      Related
      ENSP00000359623.2, ENST00000370591.6
      Conserved Domains (3) summary
      pfam07593
      Location:460 → 518
      UnbV_ASPIC; ASPIC and UnbV
      pfam07645
      Location:559 → 605
      EGF_CA; Calcium-binding EGF domain
      pfam13517
      Location:299 → 363
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella

    2. NM_018058.7 → NP_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
      B1ALN4, Q5T4F8, Q8N4H6, Q8TE52, Q9NQ78, Q9NQ79, Q9NQ80, Q9NW46
      UniProtKB/TrEMBL
      A0A0C4DFP6
      Related
      ENSP00000359629.3, ENST00000370597.8
      Conserved Domains (3) summary
      pfam07593
      Location:460 → 518
      UnbV_ASPIC; ASPIC and UnbV
      pfam07645
      Location:559 → 605
      EGF_CA; Calcium-binding EGF domain
      pfam13517
      Location:299 → 363
      VCBS; Repeat domain in Vibrio, Colwellia, Bradyrhizobium and Shewanella

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      97865000..98030621 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      98745137..98911010 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQ79.2 GenPept UniProtKB/Swiss-Prot:Q9NQ79

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