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CRTAP cartilage associated protein [ Homo sapiens (human) ]

Gene ID: 10491, updated on 5-Mar-2024

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; AllianceGenome:HGNC:2379
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
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Genomic context

See CRTAP in Genome Data Viewer
Location:
3p22.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (33114014..33147773)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (33115771..33149528)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (33155506..33189265)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene galactosidase beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19645 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14184 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:33156217-33157208 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:33157792-33157940 Neighboring gene RNA, 7SL, cytoplasmic 296, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19647 Neighboring gene transmembrane protein with metallophosphoesterase domain Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:33194307-33195506 Neighboring gene Sharpr-MPRA regulatory region 10469 Neighboring gene sushi domain containing 5 Neighboring gene uncharacterized LOC124909362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14185 Neighboring gene F-box and leucine rich repeat protein 2

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to collagen binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in chaperone-mediated protein folding ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in collagen fibril organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of post-translational protein modification IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in peptidyl-proline hydroxylation to 3-hydroxy-L-proline IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
part_of 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)

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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_008122.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001393363.1NP_001380292.1  cartilage-associated protein isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC112211
    UniProtKB/TrEMBL
    B3KME2
  2. NM_001393364.1NP_001380293.1  cartilage-associated protein isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC112211
    Consensus CDS
    CCDS93231.1
    UniProtKB/TrEMBL
    B3KME2, C9JP16
    Related
    ENSP00000409997.1, ENST00000449224.1
  3. NM_001393365.1NP_001380294.1  cartilage-associated protein isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC112211
    UniProtKB/TrEMBL
    B3KME2
  4. NM_006371.5NP_006362.1  cartilage-associated protein isoform 1 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
    B2RBL6, O75718
    UniProtKB/TrEMBL
    B3KME2
    Related
    ENSP00000323696.5, ENST00000320954.11

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    33115771..33149528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)