InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: COL4A3

Summary

InnateDB Gene

IDBG-82471.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL4A3

Gene Name

collagen, type IV, alpha 3 (Goodpasture antigen)

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000169031

Encoded Proteins

IDBP-82475

collagen, type IV, alpha 3 (Goodpasture antigen)

IDBP-237123

collagen, type IV, alpha 3 (Goodpasture antigen)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:227164565-227314792

Strand

Forward strand

Band

q36.3

Transcripts

ENST00000304990	ENSP00000302781
ENST00000396578	ENSP00000379823
ENST00000487633
ENST00000468753
ENST00000471862
ENST00000469504

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005178	integrin binding
GO:0005198	structural molecule activity
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding
GO:0008191	metalloendopeptidase inhibitor activity

Biological Process

GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007155	cell adhesion
GO:0007166	cell surface receptor signaling pathway
GO:0007411	axon guidance
GO:0007605	sensory perception of sound
GO:0008015	blood circulation
GO:0008283	cell proliferation
GO:0008285	negative regulation of cell proliferation
GO:0009749	response to glucose
GO:0010951	negative regulation of endopeptidase activity
GO:0016525	negative regulation of angiogenesis
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process
GO:0032836	glomerular basement membrane development
GO:0072577	endothelial cell apoptotic process

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005587	collagen type IV trimer
GO:0005604	basement membrane
GO:0005788	endoplasmic reticulum lumen

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000079465

View Gene Order

ENSBTAG00000021316

Not yet available

Pathways

NETPATH

REACTOME

REACT_13552

Integrin cell surface interactions pathway

REACT_16888

Signaling by PDGF pathway

REACT_150268

Anchoring fibril formation pathway

REACT_150180

Assembly of collagen fibrils and other multimeric structures pathway

REACT_121139

Collagen biosynthesis and modifying enzymes pathway

REACT_150401

Collagen degradation pathway

REACT_18312

NCAM1 interactions pathway

REACT_18334

NCAM signaling for neurite out-growth pathway

REACT_111045

Developmental Biology pathway

REACT_118779

Extracellular matrix organization pathway

REACT_118572

Degradation of the extracellular matrix pathway

REACT_18266

Axon guidance pathway

REACT_111102

Signal Transduction pathway

REACT_163906

ECM proteoglycans pathway

REACT_163874

Non-integrin membrane-ECM interactions pathway

REACT_169262

Laminin interactions pathway

REACT_120729

Collagen formation pathway

KEGG

hsa04512

ECM-receptor interaction pathway

hsa05222

Small cell lung cancer pathway

hsa04510

Focal adhesion pathway

hsa05200

Pathways in cancer pathway

hsa05146

Amoebiasis pathway

hsa04974

Protein digestion and absorption pathway

INOH

INOH website

Integrin signaling pathway pathway

PID NCI

avb3_integrin_pathway

Integrins in angiogenesis

integrin3_pathway

Beta3 integrin cell surface interactions

Cross-References

SwissProt

Q01955

TrEMBL

A9QVI3 Q548X1

UniProt Splice Variant

Entrez Gene

1285

UniGene

Hs.570065

RefSeq

NM_000091 XM_005246279 XM_005246280 XM_006712244 XM_006712245

HUGO

HGNC:2204

OMIM

120070

CCDS

CCDS42829

HPRD

00354

IMGT

EMBL

AB008496 AC079235 AC097662 AC107069 AF218541 AF258351 AJ288487 AJ288488 AJ288489 AJ288490 AJ288491 AJ288492 AJ288493 AJ288494 AJ288495 AJ288496 AJ288497 AJ288498 AJ288499 AJ288500 AJ288501 AJ288502 AJ288503 AJ288504 AJ288505 AJ288506 AJ288507 AJ288508 AJ288509 AJ288510 AJ288511 AJ288512 AJ288513 AJ288514 AJ288515 AJ288516 AJ288517 AJ288518 AJ288519 AJ288520 AJ288521 AJ288522 AJ288523 AJ288524 AJ288525 AJ288526 AJ288527 AJ288528 AJ288529 AJ288530 AJ288531 AJ288532 AJ288533 AJ288534 AJ288535 AJ288536 AJ288537 AJ288538 EU268882 L08650 M81379 M92993 S55790 U02519 U02520 X80031

GenPept

AAA18942 AAA18943 AAA21610 AAA51556 AAA52044 AAB19637 AAF63713 AAF72632 AAX93111 AAY14671 AAY24251 ABX71213 BAA25064 CAA56335 CAC36101

RNA Seq Atlas

1285