InnateDB Protein
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IDBP-237123.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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COL4A3
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Protein Name
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collagen, type IV, alpha 3 (Goodpasture antigen)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379823
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InnateDB Gene
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IDBG-82471 (COL4A3)
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Protein Structure
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Function |
Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via RGD-independent ITGB3-mediated mechanisms.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix, basement membrane. Note=Colocalizes with COL4A4 and COL4A5 in GBM, tubular basement membrane (TBM) and synaptic basal lamina (BL). {ECO:0000250}.
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Disease Associations |
Note=Autoantibodies against the NC1 domain of alpha 3(IV) are found in Goodpasture syndrome, an autoimmune disease of lung and kidney.Alport syndrome, autosomal recessive (APSAR) [MIM:203780]: A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. {ECO:0000269PubMed:11134255, ECO:0000269PubMed:15954103}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hematuria, benign familial (BFH) [MIM:141200]: An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane. {ECO:0000269PubMed:11961012}. Note=The disease is caused by mutations affecting the gene represented in this entry.Alport syndrome, autosomal dominant (APSAD) [MIM:104200]: A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. {ECO:0000269PubMed:11044206, ECO:0000269PubMed:11134255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Alpha 3 and alpha 4 type IV collagens are colocalized and present in kidney, eye, basement membranes of lens capsule, cochlea, lung, skeletal muscle, aorta, synaptic fibers, fetal kidney and fetal lung. PubMed:8083201 reports similar levels of expression of alpha 3 and alpha 4 type IV collagens in kidney, but PubMed:7523402 reports that in kidney levels of alpha 3 type IV collagen are significantly lower than those of alpha 4 type IV collagen. According to PubMed:8083201, alpha 3 type IV collagen is not detected in heart, brain, placenta, liver, pancreas, extrasynaptic muscle fibers, endoneurial and perineurial nerves, fetal brain, fetal heart and fetal liver. According to PubMed:7523402, alpha 3 type IV collagen is strongly expressed in pancreas, neuroretina and calvaria and not expressed in adrenal, ileum and skin. Isoform 1 and isoform 3 are strongly expressed in kidney, lung, suprarenal capsule, muscle and spleen, in each of these tissues isoform 1 is more abundant than isoform 3. Isoform 1 and isoform 3 are expressed at low levels in artery, fat, pericardium and peripherical nerve, but not in placenta, mesangium, skin, pleura and cultured umbilical endothelial cells. {ECO:0000269PubMed:7523402, ECO:0000269PubMed:8083201, ECO:0000269PubMed:8505332}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001442
Collagen IV, non-collagenous
IPR008160
Collagen triple helix repeat
IPR016187
C-type lectin fold
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PFAM |
PF01413
PF01391
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PRINTS |
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PIRSF |
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SMART |
SM00111
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TIGRFAMs |
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Modification |
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SwissProt |
Q01955
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PhosphoSite |
PhosphoSite-Q01955
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TrEMBL |
Q548X1
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UniProt Splice Variant |
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Entrez Gene |
1285
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UniGene |
Hs.570065
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RefSeq |
NP_000082
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HUGO |
HGNC:2204
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OMIM |
120070
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CCDS |
CCDS42829
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HPRD |
00354
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IMGT |
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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
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GenPept |
AAA18942
AAA18943
AAA21610
AAA51556
AAA52044
AAB19637
AAF63713
AAF72632
AAX93111
AAY14671
AAY24251
ABX71213
BAA25064
CAA56335
CAC36101
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