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COL5A3 collagen type V alpha 3 chain [ Homo sapiens (human) ]

Gene ID: 50509, updated on 21-Dec-2019

Summary

Official Symbol
COL5A3provided by HGNC
Official Full Name
collagen type V alpha 3 chainprovided by HGNC
Primary source
HGNC:HGNC:14864
See related
Ensembl:ENSG00000080573 MIM:120216
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
Summary
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 20.1), fat (RPKM 19.6) and 20 other tissues See more
Orthologs

Genomic context

See COL5A3 in Genome Data Viewer
Location:
19p13.2
Exon count:
67
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (9959561..10010532, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10070237..10121147, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 1 Neighboring gene olfactomedin 2 Neighboring gene CRISPRi-validated cis-regulatory element chr19.1735 Neighboring gene retinol dehydrogenase 8

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
collagen binding NAS
Non-traceable Author Statement
more info
PubMed 
extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix structural constituent NAS
Non-traceable Author Statement
more info
PubMed 
extracellular matrix structural constituent conferring tensile strength HDA PubMed 
extracellular matrix structural constituent conferring tensile strength RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
proteoglycan binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
collagen fibril organization NAS
Non-traceable Author Statement
more info
PubMed 
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
skin development NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
collagen type IX trimer IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen type V trimer NAS
Non-traceable Author Statement
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
collagen alpha-3(V) chain
Names
collagen, type V, alpha 3
pro-(alpha)3(V) collagen

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_046943.1 RefSeqGene

    Range
    5035..55978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015719.4NP_056534.2  collagen alpha-3(V) chain preproprotein

    See identical proteins and their annotated locations for NP_056534.2

    Status: REVIEWED

    Source sequence(s)
    AC008742, AF177941, BQ006883
    Consensus CDS
    CCDS12222.1
    UniProtKB/Swiss-Prot
    P25940
    Related
    ENSP00000264828.3, ENST00000264828.4
    Conserved Domains (3) summary
    pfam01391
    Location:572631
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01410
    Location:15151743
    COLFI; Fibrillar collagen C-terminal domain
    cl22861
    Location:31210
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    9959561..10010532 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528042.2XP_011526344.1  collagen alpha-3(V) chain isoform X1

    Conserved Domains (3) summary
    pfam01391
    Location:571630
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01410
    Location:15141742
    COLFI; Fibrillar collagen C-terminal domain
    cl22861
    Location:31209
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  2. XM_017026849.2XP_016882338.1  collagen alpha-3(V) chain isoform X2

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