COL4A4 | ENSG00000081052 | NCBI 1286

Details for: COL4A4

Gene ID: 1286

Symbol: COL4A4

Ensembl ID: ENSG00000081052

Description: collagen type IV alpha 4 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)
Extracellular matrix organization
(R-HSA-1474244)
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)
Basement membrane
(GO:0005604)
Collagen-containing extracellular matrix
(GO:0062023)
Collagen type iv trimer
(GO:0005587)
Endoplasmic reticulum lumen
(GO:0005788)
Extracellular matrix structural constituent
(GO:0005201)
Extracellular matrix structural constituent conferring tensile strength
(GO:0030020)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Glomerular basement membrane development
(GO:0032836)
Molecular adaptor activity
(GO:0060090)

Other Information

Proteins

Collagen alpha-4(IV) chain

Genular Protein ID: 4233271545

Symbol: CO4A4_HUMAN

Name: Collagen alpha-4(IV) chain

UniProtKB Accession Codes:

P53420 A8MTZ1 Q53RW9 Q53S42 Q53WR1

Database IDs:

Citations:

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: 9792860

Title: Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

PubMed ID: 9792860

DOI: 10.1086/302106

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: 8365481

Title: cDNA isolation and partial gene structure of the human alpha 4(IV) collagen chain.

PubMed ID: 8365481

DOI: 10.1016/0014-5793(93)80256-t

PubMed ID: 1429714

Title: Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2.

PubMed ID: 1429714

DOI: 10.1016/s0021-9258(18)35902-7

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: 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: 29777959

Title: Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix.

PubMed ID: 29777959

DOI: 10.1016/j.actbio.2018.05.023

PubMed ID: 9195222

Title: The clinical spectrum of type IV collagen mutations.

PubMed ID: 9195222

DOI: 10.1002/(sici)1098-1004(1997)9:6<477::aid-humu1>3.0.co;2-#

PubMed ID: 7987396

Title: Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

PubMed ID: 7987396

DOI: 10.1038/ng0994-77

PubMed ID: 8787673

Title: Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

PubMed ID: 8787673

DOI: 10.1172/jci118893

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: 12631110

Title: Mutations in the COL4A4 gene in thin basement membrane disease.

PubMed ID: 12631110

DOI: 10.1046/j.1523-1755.2003.00780.x

Sequence Information:

Length: 1690
Mass: 164038
Checksum: C55711CDF14A57DB
Sequence:

MWSLHIVLMR CSFRLTKSLA TGPWSLILIL FSVQYVYGSG KKYIGPCGGR DCSVCHCVPE 
KGSRGPPGPP GPQGPIGPLG APGPIGLSGE KGMRGDRGPP GAAGDKGDKG PTGVPGFPGL 
DGIPGHPGPP GPRGKPGMSG HNGSRGDPGF PGGRGALGPG GPLGHPGEKG EKGNSVFILG 
AVKGIQGDRG DPGLPGLPGS WGAGGPAGPT GYPGEPGLVG PPGQPGRPGL KGNPGVGVKG 
QMGDPGEVGQ QGSPGPTLLV EPPDFCLYKG EKGIKGIPGM VGLPGPPGRK GESGIGAKGE 
KGIPGFPGPR GDPGSYGSPG FPGLKGELGL VGDPGLFGLI GPKGDPGNRG HPGPPGVLVT 
PPLPLKGPPG DPGFPGRYGE TGDVGPPGPP GLLGRPGEAC AGMIGPPGPQ GFPGLPGLPG 
EAGIPGRPDS APGKPGKPGS PGLPGAPGLQ GLPGSSVIYC SVGNPGPQGI KGKVGPPGGR 
GPKGEKGNEG LCACEPGPMG PPGPPGLPGR QGSKGDLGLP GWLGTKGDPG PPGAEGPPGL 
PGKHGASGPP GNKGAKGDMV VSRVKGHKGE RGPDGPPGFP GQPGSHGRDG HAGEKGDPGP 
PGDHEDATPG GKGFPGPLGP PGKAGPVGPP GLGFPGPPGE RGHPGVPGHP GVRGPDGLKG 
QKGDTISCNV TYPGRHGPPG FDGPPGPKGF PGPQGAPGLS GSDGHKGRPG TPGTAEIPGP 
PGFRGDMGDP GFGGEKGSSP VGPPGPPGSP GVNGQKGIPG DPAFGHLGPP GKRGLSGVPG 
IKGPRGDPGC PGAEGPAGIP GFLGLKGPKG REGHAGFPGV PGPPGHSCER GAPGIPGQPG 
LPGYPGSPGA PGGKGQPGDV GPPGPAGMKG LPGLPGRPGA HGPPGLPGIP GPFGDDGLPG 
PPGPKGPRGL PGFPGFPGER GKPGAEGCPG AKGEPGEKGM SGLPGDRGLR GAKGAIGPPG 
DEGEMAIISQ KGTPGEPGPP GDDGFPGERG DKGTPGMQGR RGEPGRYGPP GFHRGEPGEK 
GQPGPPGPPG PPGSTGLRGF IGFPGLPGDQ GEPGSPGPPG FSGIDGARGP KGNKGDPASH 
FGPPGPKGEP GSPGCPGHFG ASGEQGLPGI QGPRGSPGRP GPPGSSGPPG CPGDHGMPGL 
RGQPGEMGDP GPRGLQGDPG IPGPPGIKGP SGSPGLNGLH GLKGQKGTKG ASGLHDVGPP 
GPVGIPGLKG ERGDPGSPGI SPPGPRGKKG PPGPPGSSGP PGPAGATGRA PKDIPDPGPP 
GDQGPPGPDG PRGAPGPPGL PGSVDLLRGE PGDCGLPGPP GPPGPPGPPG YKGFPGCDGK 
DGQKGPVGFP GPQGPHGFPG PPGEKGLPGP PGRKGPTGLP GPRGEPGPPA DVDDCPRIPG 
LPGAPGMRGP EGAMGLPGMR GPSGPGCKGE PGLDGRRGVD GVPGSPGPPG RKGDTGEDGY 
PGGPGPPGPI GDPGPKGFGP GYLGGFLLVL HSQTDQEPTC PLGMPRLWTG YSLLYLEGQE 
KAHNQDLGLA GSCLPVFSTL PFAYCNIHQV CHYAQRNDRS YWLASAAPLP MMPLSEEAIR 
PYVSRCAVCE APAQAVAVHS QDQSIPPCPQ TWRSLWIGYS FLMHTGAGDQ GGGQALMSPG 
SCLEDFRAAP FLECQGRQGT CHFFANKYSF WLTTVKADLQ FSSAPAPDTL KESQAQRQKI 
SRCQVCVKYS

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: COL4A4

Associated with

Other Information

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

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. PubMed ID: 9792860

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

cDNA isolation and partial gene structure of the human alpha 4(IV) collagen chain. PubMed ID: 8365481

Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2. PubMed ID: 1429714

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

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

Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix. PubMed ID: 29777959

The clinical spectrum of type IV collagen mutations. PubMed ID: 9195222

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. PubMed ID: 7987396

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. PubMed ID: 8787673

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

Mutations in the COL4A4 gene in thin basement membrane disease. PubMed ID: 12631110