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

Gene ID: 55118, updated on 15-Jun-2019

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

Genomic context

See CRTAC1 in Genome Data Viewer
Location:
10q24.2
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (97854711..98030828, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99624757..99790585, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene secreted frizzled related protein 5 Neighboring gene uncharacterized LOC107984260 Neighboring gene long intergenic non-protein coding RNA 866 Neighboring gene golgin A7 family member B 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 FunctionsWhat's a GeneRIF?

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
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axonal fasciculation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of receptor binding IEA
Inferred from Electronic Annotation
more info
 
olfactory bulb development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
growth cone IEA
Inferred from Electronic Annotation
more info
 

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)

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
    5001..170829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206528.2NP_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, R60584
    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 Annotation Release 109

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..98030828 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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