Collagen alpha-4(IV) chain
Details
- Name
- Collagen alpha-4(IV) chain
- Kind
- protein
- Synonyms
- Not Available
- Gene Name
- COL4A4
- UniProtKB Entry
- P53420Swiss-Prot
- Organism
- Humans
- NCBI Taxonomy ID
- 9606
- Amino acid sequence
>lcl|BSEQ0017118|Collagen alpha-4(IV) chain MWSLHIVLMRCSFRLTKSLATGPWSLILILFSVQYVYGSGKKYIGPCGGRDCSVCHCVPE KGSRGPPGPPGPQGPIGPLGAPGPIGLSGEKGMRGDRGPPGAAGDKGDKGPTGVPGFPGL DGIPGHPGPPGPRGKPGMSGHNGSRGDPGFPGGRGALGPGGPLGHPGEKGEKGNSVFILG AVKGIQGDRGDPGLPGLPGSWGAGGPAGPTGYPGEPGLVGPPGQPGRPGLKGNPGVGVKG QMGDPGEVGQQGSPGPTLLVEPPDFCLYKGEKGIKGIPGMVGLPGPPGRKGESGIGAKGE KGIPGFPGPRGDPGSYGSPGFPGLKGELGLVGDPGLFGLIGPKGDPGNRGHPGPPGVLVT PPLPLKGPPGDPGFPGRYGETGDVGPPGPPGLLGRPGEACAGMIGPPGPQGFPGLPGLPG EAGIPGRPDSAPGKPGKPGSPGLPGAPGLQGLPGSSVIYCSVGNPGPQGIKGKVGPPGGR GPKGEKGNEGLCACEPGPMGPPGPPGLPGRQGSKGDLGLPGWLGTKGDPGPPGAEGPPGL PGKHGASGPPGNKGAKGDMVVSRVKGHKGERGPDGPPGFPGQPGSHGRDGHAGEKGDPGP PGDHEDATPGGKGFPGPLGPPGKAGPVGPPGLGFPGPPGERGHPGVPGHPGVRGPDGLKG QKGDTISCNVTYPGRHGPPGFDGPPGPKGFPGPQGAPGLSGSDGHKGRPGTPGTAEIPGP PGFRGDMGDPGFGGEKGSSPVGPPGPPGSPGVNGQKGIPGDPAFGHLGPPGKRGLSGVPG IKGPRGDPGCPGAEGPAGIPGFLGLKGPKGREGHAGFPGVPGPPGHSCERGAPGIPGQPG LPGYPGSPGAPGGKGQPGDVGPPGPAGMKGLPGLPGRPGAHGPPGLPGIPGPFGDDGLPG PPGPKGPRGLPGFPGFPGERGKPGAEGCPGAKGEPGEKGMSGLPGDRGLRGAKGAIGPPG DEGEMAIISQKGTPGEPGPPGDDGFPGERGDKGTPGMQGRRGEPGRYGPPGFHRGEPGEK GQPGPPGPPGPPGSTGLRGFIGFPGLPGDQGEPGSPGPPGFSGIDGARGPKGNKGDPASH FGPPGPKGEPGSPGCPGHFGASGEQGLPGIQGPRGSPGRPGPPGSSGPPGCPGDHGMPGL RGQPGEMGDPGPRGLQGDPGIPGPPGIKGPSGSPGLNGLHGLKGQKGTKGASGLHDVGPP GPVGIPGLKGERGDPGSPGISPPGPRGKKGPPGPPGSSGPPGPAGATGRAPKDIPDPGPP GDQGPPGPDGPRGAPGPPGLPGSVDLLRGEPGDCGLPGPPGPPGPPGPPGYKGFPGCDGK DGQKGPVGFPGPQGPHGFPGPPGEKGLPGPPGRKGPTGLPGPRGEPGPPADVDDCPRIPG LPGAPGMRGPEGAMGLPGMRGPSGPGCKGEPGLDGRRGVDGVPGSPGPPGRKGDTGEDGY PGGPGPPGPIGDPGPKGFGPGYLGGFLLVLHSQTDQEPTCPLGMPRLWTGYSLLYLEGQE KAHNQDLGLAGSCLPVFSTLPFAYCNIHQVCHYAQRNDRSYWLASAAPLPMMPLSEEAIR PYVSRCAVCEAPAQAVAVHSQDQSIPPCPQTWRSLWIGYSFLMHTGAGDQGGGQALMSPG SCLEDFRAAPFLECQGRQGTCHFFANKYSFWLTTVKADLQFSSAPAPDTLKESQAQRQKI SRCQVCVKYS
- Number of residues
- 1690
- Molecular Weight
- 164037.245
- Theoretical pI
- 8.72
- GO Classification
- Functionsextracellular matrix structural constituent conferring tensile strength / molecular adaptor activityComponentsbasement membrane / collagen-containing extracellular matrix / extracellular space
- General 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
- Specific Function
- extracellular matrix structural constituent
- Pfam Domain Function
- Signal Regions
- 1-38
- Transmembrane Regions
- Not Available
- Cellular Location
- Secreted, extracellular space, extracellular matrix, basement membrane
- Gene sequence
>lcl|BSEQ0017119|Collagen alpha-4(IV) chain (COL4A4) ATGTGGTCTCTGCACATAGTACTAATGAGGTGCTCCTTCAGATTGACCAAGTCCTTGGCC ACAGGTCCCTGGTCACTTATACTCATTCTCTTTTCTGTACAATATGTATATGGGAGTGGA AAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAA AAGGGGTCTCGGGGTCCACCAGGACCACCAGGGCCACAGGGTCCAATTGGACCCCTGGGA GCCCCAGGACCCATTGGGCTTTCAGGAGAGAAAGGAATGAGAGGGGACCGCGGCCCTCCT GGAGCAGCAGGGGACAAAGGAGATAAGGGTCCAACTGGTGTTCCTGGATTTCCAGGTTTA GATGGCATACCTGGGCACCCAGGGCCTCCTGGACCCAGAGGCAAACCTGGTATGAGTGGC CACAATGGCTCAAGAGGTGACCCAGGGTTTCCAGGAGGAAGAGGAGCTCTTGGCCCAGGA GGCCCCCTAGGCCATCCTGGGGAAAAGGGAGAAAAAGGAAATTCAGTGTTCATTTTAGGT GCCGTTAAAGGTATTCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGGATCT TGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGGA CCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGGAAATCCCGGTGTGGGAGTAAAGGGG CAAATGGGAGACCCGGGTGAGGTTGGTCAGCAAGGTTCTCCTGGACCCACCCTGTTGGTA GAGCCACCTGACTTTTGTCTCTATAAAGGAGAAAAGGGTATAAAAGGAATTCCTGGAATG GTTGGACTGCCAGGACCACCAGGACGCAAGGGAGAATCTGGTATTGGGGCAAAAGGAGAA AAAGGTATTCCTGGATTTCCAGGGCCTCGGGGGGATCCTGGTTCCTATGGATCTCCAGGT TTTCCAGGATTAAAGGGAGAACTAGGACTGGTTGGAGATCCTGGGCTATTTGGATTAATT GGCCCAAAGGGGGATCCTGGAAATCGAGGGCACCCAGGACCACCAGGTGTTTTGGTGACT CCACCTCTTCCACTCAAAGGCCCACCAGGGGACCCAGGGTTCCCTGGCCGCTATGGAGAA ACAGGGGATGTTGGACCACCTGGTCCCCCAGGTCTCTTGGGCAGACCAGGGGAAGCCTGT GCAGGCATGATAGGACCCCCTGGGCCACAAGGATTTCCTGGTCTTCCTGGGCTTCCAGGA GAAGCTGGTATTCCTGGGAGACCTGATTCTGCTCCAGGAAAACCAGGGAAGCCAGGATCA CCTGGCTTGCCTGGAGCACCAGGCCTGCAGGGCCTCCCAGGATCAAGTGTGATATACTGT AGTGTTGGGAACCCCGGACCACAAGGAATAAAAGGCAAAGTTGGTCCCCCAGGAGGAAGA GGCCCAAAAGGAGAAAAAGGAAATGAAGGACTCTGTGCCTGTGAGCCTGGACCCATGGGC CCCCCTGGCCCTCCAGGACTTCCTGGGAGGCAGGGGAGTAAGGGAGACTTGGGGCTCCCT GGCTGGCTTGGAACAAAAGGTGACCCAGGACCTCCTGGTGCTGAAGGACCTCCAGGGCTA CCAGGAAAGCATGGTGCCTCTGGACCACCTGGCAACAAAGGGGCGAAGGGTGACATGGTT GTATCAAGAGTTAAAGGGCACAAAGGAGAAAGAGGTCCTGATGGGCCCCCAGGATTTCCA GGGCAGCCAGGATCACATGGTCGGGATGGACATGCTGGAGAAAAAGGGGATCCAGGACCT CCAGGGGATCATGAAGATGCGACCCCAGGTGGTAAAGGATTTCCTGGACCTCTGGGCCCC CCAGGCAAAGCAGGACCTGTGGGGCCCCCAGGACTGGGATTTCCTGGTCCACCAGGAGAG CGAGGCCACCCAGGAGTTCCAGGCCACCCAGGTGTGAGGGGCCCTGATGGCTTGAAGGGT CAGAAAGGTGACACAATTTCTTGCAACGTAACCTACCCTGGGAGGCATGGCCCTCCAGGT TTTGATGGACCTCCAGGTCCGAAGGGATTTCCAGGTCCCCAAGGTGCCCCTGGGCTGAGT GGTTCAGATGGGCATAAAGGCAGACCTGGCACACCAGGAACAGCGGAAATACCAGGTCCA CCTGGTTTTCGTGGTGACATGGGAGATCCGGGTTTTGGAGGTGAAAAGGGGTCCTCCCCT GTTGGGCCCCCAGGCCCTCCCGGCTCACCAGGAGTGAATGGTCAGAAAGGAATCCCGGGA GACCCTGCATTTGGTCACCTGGGACCCCCGGGAAAGAGGGGTCTTTCAGGAGTGCCAGGG ATAAAAGGACCCAGAGGTGATCCGGGATGTCCAGGGGCTGAAGGGCCAGCTGGCATTCCT GGATTCCTAGGTCTCAAAGGTCCCAAAGGCAGAGAGGGACATGCTGGGTTTCCAGGTGTC CCAGGTCCACCTGGCCATTCCTGTGAAAGAGGTGCTCCAGGGATACCAGGGCAACCGGGA CTCCCTGGGTATCCAGGTAGCCCAGGTGCTCCAGGTGGGAAAGGACAGCCGGGAGATGTG GGGCCTCCCGGGCCAGCTGGAATGAAAGGCCTCCCCGGACTCCCAGGACGGCCTGGGGCA CATGGTCCCCCAGGCCTCCCAGGAATCCCAGGTCCCTTTGGAGATGATGGGCTACCTGGT CCTCCAGGTCCAAAGGGACCCCGGGGGCTGCCTGGTTTCCCAGGTTTTCCCGGAGAAAGA GGAAAGCCTGGTGCAGAGGGATGTCCTGGCGCAAAGGGAGAACCTGGAGAGAAGGGCATG TCTGGCCTTCCTGGAGACCGGGGACTGAGAGGGGCCAAAGGAGCCATAGGACCTCCCGGA GATGAAGGAGAAATGGCTATCATTTCACAAAAGGGAACACCTGGGGAACCTGGACCTCCT GGAGATGATGGATTCCCAGGAGAAAGAGGTGATAAAGGAACTCCCGGGATGCAAGGGAGA AGAGGAGAGCCGGGAAGATACGGACCACCTGGATTTCACAGAGGGGAACCTGGTGAGAAA GGTCAGCCAGGGCCTCCTGGACCCCCAGGCCCTCCAGGCTCAACTGGTCTAAGAGGGTTC ATTGGTTTTCCAGGACTTCCAGGTGACCAGGGTGAGCCAGGTTCTCCAGGTCCCCCTGGA TTTTCAGGAATTGATGGAGCAAGAGGACCTAAAGGAAACAAAGGTGACCCTGCCAGTCAC TTTGGTCCACCTGGTCCAAAGGGTGAGCCAGGTAGCCCTGGATGTCCAGGGCATTTTGGA GCATCCGGAGAGCAGGGCTTGCCTGGTATTCAAGGGCCCAGAGGATCACCTGGAAGGCCA GGGCCACCTGGCTCCTCTGGACCACCAGGGTGCCCAGGTGATCACGGGATGCCTGGGCTG AGGGGACAGCCAGGAGAAATGGGAGACCCTGGGCCAAGAGGCCTCCAGGGGGATCCAGGG ATACCAGGTCCTCCGGGAATAAAAGGTCCCTCCGGATCACCTGGCCTGAACGGCTTGCAT GGATTGAAAGGTCAGAAAGGAACTAAAGGTGCTTCAGGTTTGCATGATGTGGGGCCACCT GGTCCAGTGGGAATACCTGGGCTAAAAGGGGAGAGAGGAGACCCTGGGAGCCCAGGAATC TCTCCTCCAGGTCCTCGTGGAAAGAAAGGTCCCCCAGGACCCCCAGGGAGTTCAGGACCA CCTGGTCCTGCAGGTGCCACAGGAAGAGCTCCTAAGGACATTCCTGACCCGGGTCCACCT GGAGATCAGGGACCTCCTGGTCCTGATGGCCCAAGAGGAGCACCTGGGCCTCCAGGCCTC CCTGGGAGTGTTGACCTTCTGAGAGGGGAGCCAGGTGACTGTGGTCTACCAGGGCCACCA GGTCCCCCTGGCCCACCAGGCCCTCCAGGATACAAAGGCTTTCCAGGATGTGATGGAAAA GATGGCCAGAAAGGACCAGTGGGATTCCCGGGACCGCAGGGACCACATGGATTTCCTGGG CCACCTGGAGAGAAGGGTTTACCTGGACCTCCAGGGAGAAAAGGGCCCACTGGTCTTCCG GGTCCCAGAGGTGAACCGGGGCCACCTGCAGATGTGGATGACTGTCCCCGAATCCCAGGC CTTCCTGGGGCGCCAGGCATGAGAGGACCAGAAGGAGCCATGGGGCTCCCTGGAATGAGA GGCCCCTCAGGACCAGGGTGCAAAGGAGAGCCTGGGCTGGATGGCAGGAGGGGTGTGGAT GGCGTCCCTGGGTCTCCTGGGCCTCCCGGACGTAAAGGTGACACAGGAGAAGACGGCTAC CCTGGAGGACCAGGGCCTCCTGGTCCCATTGGGGATCCTGGGCCCAAAGGGTTTGGCCCT GGATACCTCGGTGGCTTCCTCCTGGTTCTCCACAGTCAGACGGACCAGGAGCCCACCTGC CCCCTGGGCATGCCCAGGCTCTGGACTGGGTATAGTCTGTTATACCTGGAAGGGCAAGAG AAAGCTCACAATCAAGACCTTGGTCTGGCAGGGTCTTGCCTTCCCGTATTTAGCACGCTG CCCTTTGCCTACTGCAACATCCACCAGGTGTGCCACTATGCCCAGAGAAACGACAGATCC TACTGGCTGGCCAGCGCTGCGCCCCTCCCCATGATGCCACTCTCTGAAGAGGCGATCCGC CCCTATGTCAGCCGCTGTGCGGTATGCGAGGCCCCGGCCCAGGCGGTGGCGGTGCACAGC CAGGACCAGTCCATCCCCCCATGTCCGCAGACCTGGAGGAGCCTCTGGATCGGGTATTCA TTCCTGATGCACACAGGAGCTGGGGACCAAGGAGGAGGGCAGGCCCTTATGTCACCTGGC AGCTGCCTGGAAGATTTCAGAGCAGCACCATTCCTTGAATGCCAGGGCCGGCAGGGAACT TGCCACTTTTTCGCAAATAAGTATAGCTTCTGGCTCACAACGGTGAAAGCAGACTTGCAG TTTTCCTCTGCTCCAGCACCAGACACCTTAAAAGAAAGCCAGGCCCAACGCCAGAAAATC AGCCGGTGCCAGGTCTGCGTGAAGTATAGCTAG
- Chromosome Location
- 2
- Locus
- 2q36.3
- External Identifiers
Resource Link UniProtKB ID P53420 UniProtKB Entry Name CO4A4_HUMAN GenBank Gene ID D17391 GeneCard ID COL4A4 GenAtlas ID COL4A4 HGNC ID HGNC:2206 PDB ID(s) 5NB1, 6WKU KEGG ID hsa:1286 NCBI Gene ID 1286 - General References
- Leinonen A, Mariyama M, Mochizuki T, Tryggvason K, Reeders ST: 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. 1994 Oct 21;269(42):26172-7. [Article]
- Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grunfeld JP, Palcoux JB, Gubler MC, Antignac C: Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Am J Hum Genet. 1998 Nov;63(5):1329-40. [Article]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [Article]
- Momota R, Sugimoto M, Oohashi T, Kigasawa K, Yoshioka H, Ninomiya Y: Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36. FEBS Lett. 1998 Mar 6;424(1-2):11-6. [Article]
- Sugimoto M, Oohashi T, Yoshioka H, Matsuo N, Ninomiya Y: cDNA isolation and partial gene structure of the human alpha 4(IV) collagen chain. FEBS Lett. 1993 Sep 13;330(2):122-8. [Article]
- Kamagata Y, Mattei MG, Ninomiya Y: 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. J Biol Chem. 1992 Nov 25;267(33):23753-8. [Article]
- Mariyama M, Leinonen A, Mochizuki T, Tryggvason K, Reeders ST: 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. J Biol Chem. 1994 Sep 16;269(37):23013-7. [Article]
- Borza DB, Bondar O, Todd P, Sundaramoorthy M, Sado Y, Ninomiya Y, Hudson BG: 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. J Biol Chem. 2002 Oct 18;277(42):40075-83. Epub 2002 Aug 21. [Article]
- Lemmink HH, Schroder CH, Monnens LA, Smeets HJ: The clinical spectrum of type IV collagen mutations. Hum Mutat. 1997;9(6):477-99. [Article]
- Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schroder CH, Smeets HJ, et al.: Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet. 1994 Sep;8(1):77-81. [Article]
- Lemmink HH, Nillesen WN, Mochizuki T, Schroder CH, Brunner HG, van Oost BA, Monnens LA, Smeets HJ: Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. J Clin Invest. 1996 Sep 1;98(5):1114-8. [Article]
- Badenas C, Praga M, Tazon B, Heidet L, Arrondel C, Armengol A, Andres A, Morales E, Camacho JA, Lens X, Davila S, Mila M, Antignac C, Darnell A, Torra R: Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria. J Am Soc Nephrol. 2002 May;13(5):1248-54. [Article]
- Buzza M, Dagher H, Wang YY, Wilson D, Babon JJ, Cotton RG, Savige J: Mutations in the COL4A4 gene in thin basement membrane disease. Kidney Int. 2003 Feb;63(2):447-53. [Article]