COL4A3 | ENSG00000169031 | NCBI 1285

Details for: COL4A3

Gene ID: 1285

Symbol: COL4A3

Ensembl ID: ENSG00000169031

Description: collagen type IV alpha 3 chain

Associated with

Anchoring fibril formation
(R-HSA-2214320)
Assembly of collagen fibrils and other multimeric structures
(R-HSA-2022090)
Axon guidance
(R-HSA-422475)
Collagen biosynthesis and modifying enzymes
(R-HSA-1650814)
Collagen chain trimerization
(R-HSA-8948216)
Collagen degradation
(R-HSA-1442490)
Collagen formation
(R-HSA-1474290)
Crosslinking of collagen fibrils
(R-HSA-2243919)
Degradation of the extracellular matrix
(R-HSA-1474228)
Developmental biology
(R-HSA-1266738)
Ecm proteoglycans
(R-HSA-3000178)
Integrin cell surface interactions
(R-HSA-216083)
Laminin interactions
(R-HSA-3000157)
Ncam1 interactions
(R-HSA-419037)
Ncam signaling for neurite out-growth
(R-HSA-375165)
Nervous system development
(R-HSA-9675108)
Non-integrin membrane-ecm interactions
(R-HSA-3000171)
Signaling by pdgf
(R-HSA-186797)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signal transduction
(R-HSA-162582)
Activation of cysteine-type endopeptidase activity involved in apoptotic process
(GO:0006919)
Basement membrane
(GO:0005604)
Blood circulation
(GO:0008015)
Cell adhesion
(GO:0007155)
Cell surface receptor signaling pathway
(GO:0007166)
Collagen-activated tyrosine kinase receptor signaling pathway
(GO:0038063)
Collagen-containing extracellular matrix
(GO:0062023)
Collagen type iv trimer
(GO:0005587)
Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum lumen
(GO:0005788)
Endothelial cell apoptotic process
(GO:0072577)
Extracellular matrix organization
(GO:0030198)
Extracellular matrix structural constituent conferring tensile strength
(GO:0030020)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Glomerular basement membrane development
(GO:0032836)
Integrin binding
(GO:0005178)
Intracellular membrane-bounded organelle
(GO:0043231)
Metalloendopeptidase inhibitor activity
(GO:0008191)
Negative regulation of angiogenesis
(GO:0016525)
Negative regulation of cell population proliferation
(GO:0008285)
Negative regulation of vascular endothelial cell proliferation
(GO:1905563)
Protein binding
(GO:0005515)
Response to glucose
(GO:0009749)
Sensory perception of sound
(GO:0007605)
Structural molecule activity
(GO:0005198)

Other Information

Proteins

Collagen alpha-3(IV) chain

Genular Protein ID: 4167604688

Symbol: CO4A3_HUMAN

Name: Collagen alpha-3(IV) chain

UniProtKB Accession Codes:

Q01955 Q53QQ1 Q53R14 Q53RW8 Q9BQT2 Q9NYC4 Q9UDJ9 Q9UDK9 Q9UDL0 Q9UDL1

Database IDs:

Citations:

PubMed ID: 8083201

Title: Complete primary structure of the human alpha 3(IV) collagen chain. Coexpression of the alpha 3(IV) and alpha 4(IV) collagen chains in human tissues.

PubMed ID: 8083201

DOI: 10.1016/s0021-9258(17)31612-5

PubMed ID: 11134255

Title: Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

PubMed ID: 11134255

DOI: 10.1681/asn.v12197

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 9537506

Title: Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36.

PubMed ID: 9537506

DOI: 10.1016/s0014-5793(98)00128-8

PubMed ID: 1737849

Title: Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen.

PubMed ID: 1737849

DOI: 10.1172/jci115625

PubMed ID: 1400291

Title: Exon/intron structure of the human alpha 3(IV) gene encompassing the Goodpasture antigen (alpha 3(IV)NC1). Identification of a potentially antigenic region at the triple helix/NC1 domain junction.

PubMed ID: 1400291

DOI: 10.1016/s0021-9258(19)88621-0

PubMed ID: 8006044

Title:

PubMed ID: 8006044

DOI: 10.1016/s0021-9258(17)32561-9

PubMed ID: 7758473

Title: Characterization and expression of multiple alternatively spliced transcripts of the Goodpasture antigen gene region. Goodpasture antibodies recognize recombinant proteins representing the autoantigen and one of its alternative forms.

PubMed ID: 7758473

DOI: 10.1111/j.1432-1033.1995.tb20524.x

PubMed ID: 10766752

Title: Distinct antitumor properties of a type IV collagen domain derived from basement membrane.

PubMed ID: 10766752

DOI: 10.1074/jbc.m001956200

PubMed ID: 8294492

Title: Alternative splicing of the NC1 domain of the human alpha 3(IV) collagen gene. Differential expression of mRNA transcripts that predict three protein variants with distinct carboxyl regions.

PubMed ID: 8294492

DOI: 10.1016/s0021-9258(17)42173-9

PubMed ID: 1882840

Title: Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen.

PubMed ID: 1882840

PubMed ID: 8505332

Title: The human mRNA encoding the Goodpasture antigen is alternatively spliced.

PubMed ID: 8505332

DOI: 10.1016/s0021-9258(19)50312-x

PubMed ID: 7523402

Title: Complete primary structure of the human type IV collagen alpha 4(IV) chain. Comparison with structure and expression of the other alpha (IV) chains.

PubMed ID: 7523402

DOI: 10.1016/s0021-9258(18)47174-8

PubMed ID: 10212244

Title: Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen.

PubMed ID: 10212244

DOI: 10.1074/jbc.274.18.12642

PubMed ID: 10837460

Title: Two RGD-independent alpha vbeta 3 integrin binding sites on tumstatin regulate distinct anti-tumor properties.

PubMed ID: 10837460

DOI: 10.1074/jbc.c000186200

PubMed ID: 11044206

Title: Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

PubMed ID: 11044206

DOI: 10.1111/j.1523-1755.2000.00358.x

PubMed ID: 12193605

Title: Quaternary organization of the goodpasture autoantigen, the alpha 3(IV) collagen chain. Sequestration of two cryptic autoepitopes by intrapromoter interactions with the alpha4 and alpha5 NC1 domains.

PubMed ID: 12193605

DOI: 10.1074/jbc.m207769200

PubMed ID: 12682293

Title: Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins.

PubMed ID: 12682293

DOI: 10.1073/pnas.0730882100

PubMed ID: 15492988

Title: Implication of tumstatin in tumor progression of human bronchopulmonary carcinomas.

PubMed ID: 15492988

DOI: 10.1016/j.humpath.2004.06.008

PubMed ID: 7987301

Title: Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

PubMed ID: 7987301

DOI: 10.1093/hmg/3.8.1269

PubMed ID: 11961012

Title: Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.

PubMed ID: 11961012

DOI: 10.1681/asn.v1351248

PubMed ID: 15954103

Title: Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

PubMed ID: 15954103

DOI: 10.1002/humu.9349

PubMed ID: 29946535

Title: Heterozygous COL4A3 variants in histologically diagnosed focal segmental glomerulosclerosis.

PubMed ID: 29946535

DOI: 10.3389/fped.2018.00171

Sequence Information:

Length: 1670
Mass: 161813
Checksum: AA65D50903D82B99
Sequence:

MSARTAPRPQ VLLLPLLLVL LAAAPAASKG CVCKDKGQCF CDGAKGEKGE KGFPGPPGSP 
GQKGFTGPEG LPGPQGPKGF PGLPGLTGSK GVRGISGLPG FSGSPGLPGT PGNTGPYGLV 
GVPGCSGSKG EQGFPGLPGT LGYPGIPGAA GLKGQKGAPA KEEDIELDAK GDPGLPGAPG 
PQGLPGPPGF PGPVGPPGPP GFFGFPGAMG PRGPKGHMGE RVIGHKGERG VKGLTGPPGP 
PGTVIVTLTG PDNRTDLKGE KGDKGAMGEP GPPGPSGLPG ESYGSEKGAP GDPGLQGKPG 
KDGVPGFPGS EGVKGNRGFP GLMGEDGIKG QKGDIGPPGF RGPTEYYDTY QEKGDEGTPG 
PPGPRGARGP QGPSGPPGVP GSPGSSRPGL RGAPGWPGLK GSKGERGRPG KDAMGTPGSP 
GCAGSPGLPG SPGPPGPPGD IVFRKGPPGD HGLPGYLGSP GIPGVDGPKG EPGLLCTQCP 
YIPGPPGLPG LPGLHGVKGI PGRQGAAGLK GSPGSPGNTG LPGFPGFPGA QGDPGLKGEK 
GETLQPEGQV GVPGDPGLRG QPGRKGLDGI PGTPGVKGLP GPKGELALSG EKGDQGPPGD 
PGSPGSPGPA GPAGPPGYGP QGEPGLQGTQ GVPGAPGPPG EAGPRGELSV STPVPGPPGP 
PGPPGHPGPQ GPPGIPGSLG KCGDPGLPGP DGEPGIPGIG FPGPPGPKGD QGFPGTKGSL 
GCPGKMGEPG LPGKPGLPGA KGEPAVAMPG GPGTPGFPGE RGNSGEHGEI GLPGLPGLPG 
TPGNEGLDGP RGDPGQPGPP GEQGPPGRCI EGPRGAQGLP GLNGLKGQQG RRGKTGPKGD 
PGIPGLDRSG FPGETGSPGI PGHQGEMGPL GQRGYPGNPG ILGPPGEDGV IGMMGFPGAI 
GPPGPPGNPG TPGQRGSPGI PGVKGQRGTP GAKGEQGDKG NPGPSEISHV IGDKGEPGLK 
GFAGNPGEKG NRGVPGMPGL KGLKGLPGPA GPPGPRGDLG STGNPGEPGL RGIPGSMGNM 
GMPGSKGKRG TLGFPGRAGR PGLPGIHGLQ GDKGEPGYSE GTRPGPPGPT GDPGLPGDMG 
KKGEMGQPGP PGHLGPAGPE GAPGSPGSPG LPGKPGPHGD LGFKGIKGLL GPPGIRGPPG 
LPGFPGSPGP MGIRGDQGRD GIPGPAGEKG ETGLLRAPPG PRGNPGAQGA KGDRGAPGFP 
GLPGRKGAMG DAGPRGPTGI EGFPGPPGLP GAIIPGQTGN RGPPGSRGSP GAPGPPGPPG 
SHVIGIKGDK GSMGHPGPKG PPGTAGDMGP PGRLGAPGTP GLPGPRGDPG FQGFPGVKGE 
KGNPGFLGSI GPPGPIGPKG PPGVRGDPGT LKIISLPGSP GPPGTPGEPG MQGEPGPPGP 
PGNLGPCGPR GKPGKDGKPG TPGPAGEKGN KGSKGEPGPA GSDGLPGLKG KRGDSGSPAT 
WTTRGFVFTR HSQTTAIPSC PEGTVPLYSG FSFLFVQGNQ RAHGQDLGTL GSCLQRFTTM 
PFLFCNVNDV CNFASRNDYS YWLSTPALMP MNMAPITGRA LEPYISRCTV CEGPAIAIAV 
HSQTTDIPPC PHGWISLWKG FSFIMFTSAG SEGTGQALAS PGSCLEEFRA SPFLECHGRG 
TCNYYSNSYS FWLASLNPER MFRKPIPSTV KAGELEKIIS RCQVCMKKRH

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: COL4A3

Associated with

Other Information

Complete primary structure of the human alpha 3(IV) collagen chain. Coexpression of the alpha 3(IV) and alpha 4(IV) collagen chains in human tissues. PubMed ID: 8083201

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. PubMed ID: 11134255

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. PubMed ID: 15815621

Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36. PubMed ID: 9537506

Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen. PubMed ID: 1737849

Exon/intron structure of the human alpha 3(IV) gene encompassing the Goodpasture antigen (alpha 3(IV)NC1). Identification of a potentially antigenic region at the triple helix/NC1 domain junction. PubMed ID: 1400291

PubMed ID: 8006044

Characterization and expression of multiple alternatively spliced transcripts of the Goodpasture antigen gene region. Goodpasture antibodies recognize recombinant proteins representing the autoantigen and one of its alternative forms. PubMed ID: 7758473

Distinct antitumor properties of a type IV collagen domain derived from basement membrane. PubMed ID: 10766752

Alternative splicing of the NC1 domain of the human alpha 3(IV) collagen gene. Differential expression of mRNA transcripts that predict three protein variants with distinct carboxyl regions. PubMed ID: 8294492

Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen. PubMed ID: 1882840

The human mRNA encoding the Goodpasture antigen is alternatively spliced. PubMed ID: 8505332

Complete primary structure of the human type IV collagen alpha 4(IV) chain. Comparison with structure and expression of the other alpha (IV) chains. PubMed ID: 7523402

Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen. PubMed ID: 10212244

Two RGD-independent alpha vbeta 3 integrin binding sites on tumstatin regulate distinct anti-tumor properties. PubMed ID: 10837460

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. PubMed ID: 11044206

Quaternary organization of the goodpasture autoantigen, the alpha 3(IV) collagen chain. Sequestration of two cryptic autoepitopes by intrapromoter interactions with the alpha4 and alpha5 NC1 domains. PubMed ID: 12193605

Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins. PubMed ID: 12682293

Implication of tumstatin in tumor progression of human bronchopulmonary carcinomas. PubMed ID: 15492988

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. PubMed ID: 7987301

Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria. PubMed ID: 11961012

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. PubMed ID: 15954103

Heterozygous COL4A3 variants in histologically diagnosed focal segmental glomerulosclerosis. PubMed ID: 29946535