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CRTAP cartilage associated protein [ Homo sapiens (human) ]

Gene ID: 10491, updated on 8-Nov-2020

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
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

Genomic context

See CRTAP in Genome Data Viewer
Location:
3p22.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (33114014..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 RNA, 7SL, cytoplasmic 296, pseudogene 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 RNA, U7 small nuclear 110 pseudogene Neighboring gene upstream binding protein 1

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to collagen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein 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
 
collagen fibril organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of post-translational protein modification IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-proline hydroxylation to 3-hydroxy-L-proline IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
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)

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_006371.5NP_006362.1  cartilage-associated protein 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
    O75718
    Related
    ENSP00000323696.5, ENST00000320954.11

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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