Crtap cartilage associated protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Crtapprovided by MGI
Official Full Name: cartilage associated proteinprovided by MGI
Primary source: MGI:MGI:1891221
See related: Ensembl:ENSMUSG00000032431 AllianceGenome:MGI:1891221
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CASP; P3h5; Leprel3; 5730529N23Rik
Summary: Predicted to contribute to collagen binding activity. Involved in spermatogenesis. Acts upstream of or within peptidyl-proline hydroxylation to 3-hydroxy-L-proline. Located in endoplasmic reticulum. Is expressed in several structures, including dermis; genitourinary system; heart; rib; and stomach. Used to study osteogenesis imperfecta type 7. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 7. Orthologous to human CRTAP (cartilage associated protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in adrenal adult (RPKM 194.8), ovary adult (RPKM 168.2) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F3; 9 64.39 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (114204204..114219743, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (114375131..114390712, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tendon and motor phenotypes in the Crtap(-/-) mouse model of recessive osteogenesis imperfecta.
Title: Tendon and motor phenotypes in the Crtap(-/-) mouse model of recessive osteogenesis imperfecta.
Dental and craniofacial defects in the Crtap(-/-) mouse model of osteogenesis imperfecta type VII.
Title: Dental and craniofacial defects in the Crtap(-/-) mouse model of osteogenesis imperfecta type VII.
Pressure-volume curves showed significant differences in lung volumes and in the shape of the curves between CrtapKO mice.
Title: Respiratory defects in the CrtapKO mouse model of osteogenesis imperfecta.
This substitution abolished P3h1 activity but retained ability to form a complex with Crtap and thus the collagen chaperone function.
Title: Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.
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.
In Crtap-deficient mice, the mineral content of the bone matrix is abnormally high; there are increased mineral densities at all measured sites for murine femora compared to control animals.
Title: CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII.
CRTAP mutations are associated with the clinical spectrum of recessive osteogenesis imperfecta, including the type II and VII forms
Title: CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

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	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of post-translational protein modification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within peptidyl-proline hydroxylation to 3-hydroxy-L-proline	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in spermatogenesis	IEP Inferred from Expression Pattern more info	PubMed

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	ISO Inferred from Sequence Orthology more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
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

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.