CRTAP cartilage associated protein [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 3p22.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (33114014..33147773)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (33115771..33149528)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (33155506..33189265)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.
Title: Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.
Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
Title: Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.", trans "Osteogenesis imperfecta causada por mutacion en los genes COL1A1, CRTAP y LEPRE1. Estudio de 2casos.
Title: Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.
To the best of our knowledge, our study is the first to exclude potential correlations between heterozygous variants in CRTAP and milder skeletal impairments in a large number of patients
Title: CRTAP variants in early-onset osteoporosis and recurrent fractures.
This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP, and PPIB genes. LEPRE1 should be the first gene analyzed in mutation detection studies in patients with recessive OI.
Title: Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro.
Title: An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1·cartilage-associated protein·cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro.
SNP rs7623768 and the haplotype G-C of rs4076086-rs7623768 in CRTAP were associated with femoral neck bone mineral density (p = 0.009 and p = 0.003, respectively).
Title: Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.
Importantly, human mutations in the CRTAP gene have been associated with recessive forms of OI.
Title: Role of cartilage-associated protein in skeletal development.
CRTAP deficiency results in higher bone mineral content of the bone matrix in osteogenesis imperfecta type VII.
Title: CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII.
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Title: Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

Associated conditions

Description	Tests
Osteogenesis imperfecta type 7 MedGen: C1853162 OMIM: 610682 GeneReviews: Not available	Compare labs

Variation

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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

RH68922 (e-PCR)
- UniSTS:64285

RH91347 (e-PCR)
- UniSTS:88886

RH47267 (e-PCR)
- UniSTS:1430

RH41985 (e-PCR)
- UniSTS:24245

G16533 (e-PCR)
- UniSTS:60623

GDB:631802 (e-PCR)
- UniSTS:158429

SHGC-33264 (e-PCR)
- UniSTS:45797

RH77950 (e-PCR)
- UniSTS:82424

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	IPI Inferred from Physical Interaction more info	PubMed
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 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

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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.