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COL6A5 collagen type VI alpha 5 chain [ Homo sapiens (human) ]

Gene ID: 256076, updated on 22-Aug-2021

Summary

Official Symbol
COL6A5provided by HGNC
Official Full Name
collagen type VI alpha 5 chainprovided by HGNC
Primary source
HGNC:HGNC:26674
See related
Ensembl:ENSG00000172752 MIM:611916
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
VWA4; COL29A1
Summary
This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression
Biased expression in skin (RPKM 1.9), lung (RPKM 1.6) and 8 other tissues See more
Orthologs
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Genomic context

See COL6A5 in Genome Data Viewer
Location:
3q22.1
Exon count:
44
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (130345642..130484846)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (130064359..130203690)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374106 Neighboring gene ATP synthase membrane subunit c locus 2 pseudogene Neighboring gene collagen type VI alpha 6 chain Neighboring gene phosphoinositide-3-kinase regulatory subunit 4

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?

Phenotypes

Associated conditions

Description Tests
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-02-02)

ClinGen Genome Curation Page
Haploinsufficency

Dosage sensitivity unlikely (Last evaluated 2021-02-02)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ35880

General protein information

Preferred Names
collagen alpha-5(VI) chain
Names
collagen, type VI, alpha 5
collagen, type XXIX, alpha 1
von Willebrand factor A domain-containing protein 4

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_021424.1 RefSeqGene

    Range
    5001..144332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278298.2NP_001265227.1  collagen alpha-5(VI) chain isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC093004, AC117398, KF573676
    UniProtKB/Swiss-Prot
    A8TX70
    Related
    ENSP00000265379.7, ENST00000265379.10
    Conserved Domains (6) summary
    pfam01391
    Location:15641623
    Collagen; Collagen triple helix repeat (20 copies)
    COG2304
    Location:445593
    YfbK; Secreted protein containing bacterial Ig-like domain and vWFA domain [General function prediction only]
    cd01450
    Location:22902467
    vWFA_subfamily_ECM; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cd01472
    Location:627787
    vWA_collagen; von Willebrand factor (vWF) type A domain; equivalent to the I-domain of integrins. This domain has a variety of functions including: intermolecular adhesion, cell migration, signalling, transcription, and DNA repair. In integrins these domains form ...
    pfam00092
    Location:814985
    VWA; von Willebrand factor type A domain
    cl00057
    Location:29195
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  2. NM_153264.7NP_694996.5  collagen alpha-5(VI) chain isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC093004, AC117398, KF573676
    UniProtKB/Swiss-Prot
    A8TX70
    Conserved Domains (6) summary
    pfam01391
    Location:15641623
    Collagen; Collagen triple helix repeat (20 copies)
    COG2304
    Location:445593
    YfbK; Secreted protein containing bacterial Ig-like domain and vWFA domain [General function prediction only]
    cd01450
    Location:22902467
    vWFA_subfamily_ECM; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cd01472
    Location:627787
    vWA_collagen; von Willebrand factor (vWF) type A domain; equivalent to the I-domain of integrins. This domain has a variety of functions including: intermolecular adhesion, cell migration, signalling, transcription, and DNA repair. In integrins these domains form ...
    pfam00092
    Location:814985
    VWA; von Willebrand factor type A domain
    cl00057
    Location:29195
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RNA

  1. NR_022012.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC093004, AC117398, KF573676
    Related
    ENST00000312481.11

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    130345642..130484846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512621.2XP_011510923.1  collagen alpha-5(VI) chain isoform X1

    Conserved Domains (6) summary
    pfam01391
    Location:15791636
    Collagen; Collagen triple helix repeat (20 copies)
    COG2304
    Location:445593
    YfbK; Secreted protein containing bacterial Ig-like domain and vWFA domain [General function prediction only]
    cd01450
    Location:22692446
    vWFA_subfamily_ECM; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    cd01472
    Location:627787
    vWA_collagen; von Willebrand factor (vWF) type A domain; equivalent to the I-domain of integrins. This domain has a variety of functions including: intermolecular adhesion, cell migration, signalling, transcription, and DNA repair. In integrins these domains form ...
    pfam00092
    Location:814985
    VWA; von Willebrand factor type A domain
    cl00057
    Location:29195
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  2. XM_011512623.2XP_011510925.1  collagen alpha-5(VI) chain isoform X3

    Conserved Domains (5) summary
    pfam01391
    Location:15641623
    Collagen; Collagen triple helix repeat (20 copies)
    COG2304
    Location:445593
    YfbK; Secreted protein containing bacterial Ig-like domain and vWFA domain [General function prediction only]
    cd01472
    Location:627787
    vWA_collagen; von Willebrand factor (vWF) type A domain; equivalent to the I-domain of integrins. This domain has a variety of functions including: intermolecular adhesion, cell migration, signalling, transcription, and DNA repair. In integrins these domains form ...
    pfam00092
    Location:814985
    VWA; von Willebrand factor type A domain
    cl00057
    Location:29195
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  3. XM_011512622.2XP_011510924.1  collagen alpha-5(VI) chain isoform X2

    Conserved Domains (5) summary
    pfam01391
    Location:15641623
    Collagen; Collagen triple helix repeat (20 copies)
    COG2304
    Location:445593
    YfbK; Secreted protein containing bacterial Ig-like domain and vWFA domain [General function prediction only]
    cd01472
    Location:627787
    vWA_collagen; von Willebrand factor (vWF) type A domain; equivalent to the I-domain of integrins. This domain has a variety of functions including: intermolecular adhesion, cell migration, signalling, transcription, and DNA repair. In integrins these domains form ...
    pfam00092
    Location:814985
    VWA; von Willebrand factor type A domain
    cl00057
    Location:29195
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
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