Col5a1 collagen, type V, alpha 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Col5a1provided by MGI
Official Full Name: collagen, type V, alpha 1provided by MGI
Primary source: MGI:MGI:88457
See related: Ensembl:ENSMUSG00000026837 AllianceGenome:MGI:88457
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
Summary: An extracellular matrix structural constituent. Acts upstream of or within several processes, including circulatory system development; collagen fibril organization; and tendon development. Located in basement membrane. Part of collagen trimer. Is expressed in several structures, including embryo mesenchyme; extraembryonic component; genitourinary system; heart; and skeleton. Used to study Ehlers-Danlos syndrome classic type 1. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 1. Orthologous to human COL5A1 (collagen type V alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in limb E14.5 (RPKM 82.9), bladder adult (RPKM 28.4) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 19.38 cM

Exon count:: 67

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (27776393..27929522)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (27886381..28039510)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

A potential mechanism by which aspiration of duodenogastric fluid augments the risk for bronchiolitis obliterans syndrome after lung transplantation.
Title: A potential mechanism by which aspiration of duodenogastric fluid augments the risk for bronchiolitis obliterans syndrome after lung transplantation.
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.
Title: Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.
Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome.
Title: Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome.
Collagen V insufficiency in a mouse model for Ehlers Danlos-syndrome affects viscoelastic biomechanical properties explaining thin and brittle corneas.
Title: Collagen V insufficiency in a mouse model for Ehlers Danlos-syndrome affects viscoelastic biomechanical properties explaining thin and brittle corneas.
COL5A1 may contribute the metastasis of lung adenocarcinoma.
Title: COL5A1 may contribute the metastasis of lung adenocarcinoma.
Significantly decreased fibroblast proliferation was observed in Col5a1(+/-) compared to Col5a1(+/+) fibroblasts.
Title: Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome.
Col5a1 knockout stroma demonstrated severe dysfunctional regulation of fibrillogenesis.
Title: Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.
Sp7/Osterix was observed to participate in the activation of the Col5a1 promoter during osteoblast differentiation.
Title: Sp7/Osterix is involved in the up-regulation of the mouse pro-α1(V) collagen gene (Col5a1) in osteoblastic cells.
Col(V) is an established autoantigen in atherosclerotic mice, and Col(V) autoimmunity is a consistent feature, with variable T helper type (Th)1 cell pathway involvement.
Title: Interleukin-17-dependent autoimmunity to collagen type V in atherosclerosis.
collagen type V has a critical role in early fibril initiation
Title: Type V collagen controls the initiation of collagen fibril assembly.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH139630 (e-PCR)
- UniSTS:221714

AI413331 (e-PCR)
- UniSTS:165155

Col5a1 (e-PCR), detects polymorphism
- UniSTS:531584

RH128099 (e-PCR)
- UniSTS:211407

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent conferring tensile strength	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables heparin binding	IBA Inferred from Biological aspect of Ancestor more info
enables heparin binding	ISO Inferred from Sequence Orthology more info
enables platelet-derived growth factor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables proteoglycan binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell migration	ISO Inferred from Sequence Orthology more info
involved_in collagen biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in collagen fibril organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within collagen fibril organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen fibril organization	ISO Inferred from Sequence Orthology more info
involved_in eye morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in integrin biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endodermal cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cellular component organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin development	ISO Inferred from Sequence Orthology more info
involved_in supramolecular fiber organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within tendon development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within tendon development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in wound healing, spreading of epidermal cells	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
part_of collagen trimer	IDA Inferred from Direct Assay more info	PubMed
part_of collagen trimer	IMP Inferred from Mutant Phenotype more info	PubMed
part_of collagen type V trimer	IBA Inferred from Biological aspect of Ancestor more info
part_of collagen type V trimer	ISO Inferred from Sequence Orthology more info
part_of collagen type XI trimer	NAS Non-traceable Author Statement more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: collagen alpha-1(V) chain

Names: alpha1(V) collagen; pro-alpha1(V) collagen; procollagen type V alpha 1

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.

mRNA and Protein(s)

NM_015734.2 → NP_056549.2 collagen alpha-1(V) chain precursor

See identical proteins and their annotated locations for NP_056549.2

Status: VALIDATED

Source sequence(s)

AB009993, AK148055, AL731778, BP759660, BQ768928, BQ885116, BY713878

Consensus CDS

CCDS15831.1

UniProtKB/Swiss-Prot

A3KGE3, O88207, Q3UG94, Q6F6B0

UniProtKB/TrEMBL

B1AWB9

Related

ENSMUSP00000028280.8, ENSMUST00000028280.14

Conserved Domains (3) summary

pfam01391
Location:871 → 930

Collagen; Collagen triple helix repeat (20 copies)

smart00210
Location:39 → 230

TSPN; Thrombospondin N-terminal -like domains

pfam01410
Location:1610 → 1836

COLFI; Fibrillar collagen C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

27776393..27929522

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497644.5 → XP_006497707.1 collagen alpha-1(V) chain isoform X1

Conserved Domains (3) summary

pfam01391
Location:871 → 930

Collagen; Collagen triple helix repeat (20 copies)

smart00210
Location:39 → 230

TSPN; Thrombospondin N-terminal -like domains

pfam01410
Location:1607 → 1836

COLFI; Fibrillar collagen C-terminal domain