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HUMAN:CO4A4

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) COL4A4
Protein Name(s) Collagen alpha-4(IV) chain
External Links
UniProt P53420
EMBL X81053
Y17397
Y17398
Y17399
Y17400
Y17401
Y17402
Y17403
Y17404
Y17405
Y17406
Y17407
Y17408
Y17409
Y17410
Y17411
Y17412
Y17413
Y17427
Y17426
Y17414
Y17415
Y17416
Y17417
Y17418
Y17419
Y17420
Y17443
Y17442
Y17441
Y17440
Y17439
Y17438
Y17437
Y17436
Y17435
Y17434
Y17433
Y17432
Y17431
Y17430
Y17429
Y17428
Y17421
Y17422
Y17423
Y17424
Y17425
AC073149
AC079235
AB008496
D17391
CCDS CCDS42828.1
PIR A55360
RefSeq NP_000083.3
XP_005246338.1
UniGene Hs.591645
ProteinModelPortal P53420
SMR P53420
BioGrid 107683
IntAct P53420
STRING 9606.ENSP00000379866
ChEMBL CHEMBL2364188
PhosphoSite P53420
DMDM 259016360
PaxDb P53420
PRIDE P53420
Ensembl ENST00000396625
GeneID 1286
KEGG hsa:1286
UCSC uc021vxr.1
CTD 1286
GeneCards GC02M227867
GeneReviews COL4A4
H-InvDB HIX0030014
HGNC HGNC:2206
MIM 120131
141200
203780
neXtProt NX_P53420
Orphanet 88918
88919
97562
PharmGKB PA26721
eggNOG NOG12793
GeneTree ENSGT00770000120455
HOGENOM HOG000085652
HOVERGEN HBG004933
InParanoid P53420
KO K06237
OMA PGFRGDM
OrthoDB EOG7RZ5P3
PhylomeDB P53420
TreeFam TF344135
Reactome REACT_118779
REACT_121139
REACT_13552
REACT_150180
REACT_150268
REACT_150401
REACT_163874
REACT_163906
REACT_16888
REACT_169262
REACT_18312
ChiTaRS COL4A4
GeneWiki COL4A4
GenomeRNAi 1286
NextBio 5201
PRO PR:P53420
Proteomes UP000005640
Bgee P53420
CleanEx HS_COL4A4
ExpressionAtlas P53420
Genevestigator P53420
GO GO:0005605
GO:0005587
GO:0005788
GO:0005576
GO:0005201
GO:0007411
GO:0030574
GO:0022617
GO:0030198
GO:0032836
Gene3D 2.170.240.10
InterPro IPR016187
IPR008160
IPR001442
Pfam PF01413
PF01391
SMART SM00111
SUPFAM SSF56436
PROSITE PS51403

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

enables

GO:0030020

extracellular matrix structural constituent conferring tensile strength

PMID:25037231[1]

ECO:0007666

automatically integrated combinatorial computational and experimental evidence used in manual assertion

F

occurs_in:(UBERON:0001155)

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

PMID:25037231[1]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

part_of:(UBERON:0001155)

Seeded From UniProt

complete

involved_in

GO:0032836

glomerular basement membrane development

PMID:17942953[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032836

glomerular basement membrane development

PMID:19675380[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005604

basement membrane

PMID:2211832[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005587

collagen type IV trimer

PMID:7523402[5]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0005201

extracellular matrix structural constituent

PMID:17942953[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005201

extracellular matrix structural constituent

PMID:19675380[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0032836

glomerular basement membrane development

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:104687
PANTHER:PTN002513086
UniProtKB:P53420

P

Seeded From UniProt

complete

part_of

GO:0031012

extracellular matrix

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:88445
MGI:MGI:88446
MGI:MGI:88452
MGI:MGI:88453
MGI:MGI:88457
MGI:MGI:88467
PANTHER:PTN002513067

C

Seeded From UniProt

complete

involved_in

GO:0030198

extracellular matrix organization

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1095415
MGI:MGI:2152695
MGI:MGI:2672118
MGI:MGI:88451
PANTHER:PTN002513067
WB:WBGene00001263
ZFIN:ZDB-GENE-030131-2281

P

Seeded From UniProt

complete

part_of

GO:0005615

extracellular space

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:88452
MGI:MGI:88468
PANTHER:PTN002513067
RGD:61817
RGD:70936
RGD:727898
UniProtKB:P02452
UniProtKB:P02458
UniProtKB:P02461
UniProtKB:P08123
UniProtKB:Q9BXS0

C

Seeded From UniProt

complete

part_of

GO:0005587

collagen type IV trimer

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:104687
PANTHER:PTN002513086
UniProtKB:P53420

C

Seeded From UniProt

complete

enables

GO:0005201

extracellular matrix structural constituent

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:104687
MGI:MGI:2672118
MGI:MGI:88457
MGI:MGI:88467
PANTHER:PTN002513067
UniProtKB:P02461
UniProtKB:P02462
UniProtKB:P53420

F

Seeded From UniProt

complete

involved_in

GO:0001886

endothelial cell morphogenesis

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:88451
PANTHER:PTN001931637

P

Seeded From UniProt

complete

involved_in

GO:0001525

angiogenesis

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:88451
PANTHER:PTN001931637

P

Seeded From UniProt

complete

involved_in

GO:0032836

glomerular basement membrane development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9QZR9
ensembl:ENSMUSP00000084282

P

Seeded From UniProt

complete

part_of

GO:0005604

basement membrane

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9QZR9
ensembl:ENSMUSP00000084282

C

Seeded From UniProt

complete

part_of

GO:0005587

collagen type IV trimer

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9QZR9
ensembl:ENSMUSP00000084282

C

Seeded From UniProt

complete

enables

GO:0005201

extracellular matrix structural constituent

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9QZR9
ensembl:ENSMUSP00000084282

F

Seeded From UniProt

complete

enables

GO:0005201

extracellular matrix structural constituent

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001442
InterPro:IPR036954

F

Seeded From UniProt

complete

part_of

GO:0005581

collagen trimer

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001442
InterPro:IPR036954

C

Seeded From UniProt

complete

involved_in

GO:0030198

extracellular matrix organization

Reactome:R-HSA-1474244

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005788

endoplasmic reticulum lumen

Reactome:R-HSA-8944265
Reactome:R-HSA-2089971
Reactome:R-HSA-2022073

ECO:0000304

author statement supported by traceable reference used in manual assertion



C

Seeded From UniProt

complete

part_of

GO:0005576

extracellular region

Reactome:R-NUL-4084497
Reactome:R-HSA-4088218
Reactome:R-HSA-382054
Reactome:R-HSA-375151
Reactome:R-HSA-2559639
Reactome:R-HSA-2426450
Reactome:R-HSA-2396234
Reactome:R-HSA-2327738
Reactome:R-HSA-2327733
Reactome:R-HSA-2327695
Reactome:R-HSA-2213207
Reactome:R-HSA-1564142
Reactome:R-HSA-1454757

ECO:0000304

author statement supported by traceable reference used in manual assertion













C

Seeded From UniProt

complete

part_of

GO:0005581

collagen trimer

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0176

C

Seeded From UniProt

complete

part_of

GO:0005576

extracellular region

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0964

C

Seeded From UniProt

complete

part_of

GO:0005604

basement membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0084
UniProtKB-SubCell:SL-0025

C

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 Naba, A et al. (2014) Extracellular matrix signatures of human primary metastatic colon cancers and their metastases to liver. BMC Cancer 14 518 PubMed GONUTS page
  2. ↑ 2.0 2.1 Voskarides, K et al. (2007) COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J. Am. Soc. Nephrol. 18 3004-16 PubMed GONUTS page
  3. ↑ 3.0 3.1 Baek, JI et al. (2009) Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy. Indian J. Med. Res. 129 525-33 PubMed GONUTS page
  4. ↑ Sanes, JR et al. (1990) Molecular heterogeneity of basal laminae: isoforms of laminin and collagen IV at the neuromuscular junction and elsewhere. J. Cell Biol. 111 1685-99 PubMed GONUTS page
  5. ↑ Leinonen, A et al. (1994) Complete primary structure of the human type IV collagen alpha 4(IV) chain. Comparison with structure and expression of the other alpha (IV) chains. J. Biol. Chem. 269 26172-7 PubMed GONUTS page
  6. ↑ 6.0 6.1 6.2 6.3 6.4 6.5 6.6 6.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
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