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CRTAP cartilage associated protein [ Homo sapiens (human) ]

Gene ID: 10491, updated on 6-Jul-2014
Official Symbol
CRTAPprovided by HGNC
Official Full Name
cartilage associated proteinprovided by HGNC
Primary source
HGNC:2379
See related
Ensembl:ENSG00000170275; HPRD:16110; MIM:605497; Vega:OTTHUMG00000130746
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; 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]
See CRTAP in Epigenomics, MapViewer
Location:
3p22.3
Exon count :
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (33113958..33147773)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (33155450..33189265)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene galactosidase, beta 1 Neighboring gene SEC13 homolog (S. cerevisiae) pseudogene 1 Neighboring gene transmembrane protein with metallophosphoesterase domain Neighboring gene sushi domain containing 5 Neighboring gene F-box and leucine-rich repeat protein 2 Neighboring gene upstream binding protein 1 (LBP-1a)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
    Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein complex binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
chaperone-mediated protein folding ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
negative regulation of post-translational protein modification IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-proline hydroxylation to 3-hydroxy-L-proline IEA
Inferred from Electronic Annotation
more info
 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
macromolecular complex ISS
Inferred from Sequence or Structural Similarity
more info
 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cartilage-associated protein
Names
cartilage-associated protein
leprecan-like 3

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 

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

mRNA and Protein(s)

  1. NM_006371.4NP_006362.1  cartilage-associated protein precursor

    See proteins identical to NP_006362.1

    Status: REVIEWED

    Source sequence(s)
    AC112211, AJ006470, AK027235, DA335701
    Consensus CDS
    CCDS2657.1
    UniProtKB/Swiss-Prot
    O75718
    Related
    ENSP00000323696, OTTHUMP00000161311, ENST00000320954, OTTHUMT00000253246

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    33113958..33147773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    33083646..33129957
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    33105509..33139329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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