COL3A1

GENE INFORMATION

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Gene name

COL3A1 (HGNC Symbol)

Synonyms

EDS4A

Description

Collagen, type III, alpha 1 (HGNC Symbol)

Entrez gene summary

This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Chromosome

2

Cytoband

q32.2

Chromosome location (bp)

188974320 - 189012746

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000168542 (version 78.38)

Entrez gene

1281

UniProt

P02461 (UniProt - Evidence at protein level)

neXtProt

NX_P02461

Antibodypedia

COL3A1 antibodies
 

PROTEIN VIEW

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COL3A1-001
 
COL3A1-004
 
COL3A1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL3A1-001 ENSP00000304408
ENST00000304636
P02461
Show all »
Show » Show » 1466 138.6 Yes 0
COL3A1-004 ENSP00000415346
ENST00000450867
Show » 90 7.9 No 0
COL3A1-201 ENSP00000315243
ENST00000317840
P02461
Show all »
Show » Show » 1163 111.9 Yes 0