UniProtKB - P29400 (CO4A5_HUMAN)
Protein
Collagen alpha-5(IV) chain
Gene
COL4A5
Organism
Homo sapiens (Human)
Status
Functioni
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.
GO - Molecular functioni
- extracellular matrix structural constituent Source: GO_Central
- extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL
GO - Biological processi
- collagen-activated tyrosine kinase receptor signaling pathway Source: Ensembl
- extracellular matrix organization Source: GO_Central
- neuromuscular junction development Source: Ensembl
Enzyme and pathway databases
Reactomei | R-HSA-1442490 Collagen degradation R-HSA-1474244 Extracellular matrix organization R-HSA-1650814 Collagen biosynthesis and modifying enzymes R-HSA-186797 Signaling by PDGF R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures R-HSA-216083 Integrin cell surface interactions R-HSA-2214320 Anchoring fibril formation R-HSA-2243919 Crosslinking of collagen fibrils R-HSA-3000157 Laminin interactions R-HSA-3000171 Non-integrin membrane-ECM interactions R-HSA-3000178 ECM proteoglycans R-HSA-419037 NCAM1 interactions R-HSA-8948216 Collagen chain trimerization R-HSA-9010553 Regulation of expression of SLITs and ROBOs |
SIGNORi | P29400 |
Names & Taxonomyi
Protein namesi | Recommended name: Collagen alpha-5(IV) chain |
Gene namesi | Name:COL4A5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2207 COL4A5 |
MIMi | 303630 gene |
neXtProti | NX_P29400 |
Subcellular locationi
Extracellular region or secreted
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
Extracellular region or secreted
- collagen type IV trimer Source: GO_Central
- collagen-containing extracellular matrix Source: BHF-UCL
- extracellular matrix Source: GO_Central
- extracellular region Source: Reactome
- extracellular space Source: GO_Central
Other locations
- neuromuscular junction Source: Ensembl
Keywords - Cellular componenti
Basement membrane, Extracellular matrix, SecretedPathology & Biotechi
Involvement in diseasei
Alport syndrome 1, X-linked (ATS1)22 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_001914 | 54 | G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886043EnsemblClinVar. | 1 | |
Natural variantiVAR_007991 | 114 | G → S in ATS1. | 1 | |
Natural variantiVAR_071932 | 123 | G → E in ATS1. 1 Publication | 1 | |
Natural variantiVAR_001915 | 129 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar. | 1 | |
Natural variantiVAR_001916 | 129 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar. | 1 | |
Natural variantiVAR_001917 | 174 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886055EnsemblClinVar. | 1 | |
Natural variantiVAR_011220 | 177 | G → C in ATS1; presenting with dot-and-fleck retinopathy. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar. | 1 | |
Natural variantiVAR_001918 | 177 | G → R in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar. | 1 | |
Natural variantiVAR_011221 | 192 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886060EnsemblClinVar. | 1 | |
Natural variantiVAR_011222 | 204 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886063EnsemblClinVar. | 1 | |
Natural variantiVAR_001919 | 216 | G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886067EnsemblClinVar. | 1 | |
Natural variantiVAR_001920 | 219 | G → S in ATS1. Corresponds to variant dbSNP:rs104886075EnsemblClinVar. | 1 | |
Natural variantiVAR_011223 | 230 | G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886076EnsemblClinVar. | 1 | |
Natural variantiVAR_011224 | 239 | G → E in ATS1. Corresponds to variant dbSNP:rs104886068EnsemblClinVar. | 1 | |
Natural variantiVAR_011225 | 264 | G → R in ATS1; adult type. Corresponds to variant dbSNP:rs104886069EnsemblClinVar. | 1 | |
Natural variantiVAR_001921 | 289 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886450EnsemblClinVar. | 1 | |
Natural variantiVAR_011226 | 292 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886073EnsemblClinVar. | 1 | |
Natural variantiVAR_001922 | 292 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886078EnsemblClinVar. | 1 | |
Natural variantiVAR_011227 | 295 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886079EnsemblClinVar. | 1 | |
Natural variantiVAR_011228 | 298 | G → S in ATS1. Corresponds to variant dbSNP:rs104886080EnsemblClinVar. | 1 | |
Natural variantiVAR_011229 | 319 | G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886085EnsemblClinVar. | 1 | |
Natural variantiVAR_001923 | 325 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886091EnsemblClinVar. | 1 | |
Natural variantiVAR_001924 | 325 | G → R in ATS1; juvenile and adult types. 3 PublicationsCorresponds to variant dbSNP:rs104886088EnsemblClinVar. | 1 | |
Natural variantiVAR_007992 | 331 | G → V in ATS1. Corresponds to variant dbSNP:rs104886092EnsemblClinVar. | 1 | |
Natural variantiVAR_001926 | 365 – 367 | Missing in ATS1; juvenile type. | 3 | |
Natural variantiVAR_001925 | 365 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886096EnsemblClinVar. | 1 | |
Natural variantiVAR_001927 | 371 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886097EnsemblClinVar. | 1 | |
Natural variantiVAR_001928 | 374 | G → A in ATS1. Corresponds to variant dbSNP:rs104886108EnsemblClinVar. | 1 | |
Natural variantiVAR_001929 | 383 | G → D in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886105EnsemblClinVar. | 1 | |
Natural variantiVAR_001930 | 400 | G → E in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886107EnsemblClinVar. | 1 | |
Natural variantiVAR_001931 | 406 | G → V in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886100EnsemblClinVar. | 1 | |
Natural variantiVAR_001932 | 409 | G → D in ATS1. Corresponds to variant dbSNP:rs104886101EnsemblClinVar. | 1 | |
Natural variantiVAR_011230 | 412 | G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886102EnsemblClinVar. | 1 | |
Natural variantiVAR_011231 | 415 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886103EnsemblClinVar. | 1 | |
Natural variantiVAR_011232 | 420 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874663EnsemblClinVar. | 1 | |
Natural variantiVAR_011233 | 420 | G → V in ATS1. 1 Publication | 1 | |
Natural variantiVAR_011234 | 423 | G → E in ATS1. Corresponds to variant dbSNP:rs104886110EnsemblClinVar. | 1 | |
Natural variantiVAR_001935 | 456 – 458 | Missing in ATS1. 1 Publication | 3 | |
Natural variantiVAR_001936 | 466 | G → E in ATS1. Corresponds to variant dbSNP:rs104886114EnsemblClinVar. | 1 | |
Natural variantiVAR_007993 | 472 | G → R in ATS1. Corresponds to variant dbSNP:rs104886116EnsemblClinVar. | 1 | |
Natural variantiVAR_011235 | 491 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886117EnsemblClinVar. | 1 | |
Natural variantiVAR_001937 | 494 | G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886118EnsemblClinVar. | 1 | |
Natural variantiVAR_001938 | 496 – 507 | Missing in ATS1; juvenile type. Add BLAST | 12 | |
Natural variantiVAR_011236 | 497 | G → C in ATS1; adult type. Corresponds to variant dbSNP:rs104886120EnsemblClinVar. | 1 | |
Natural variantiVAR_001939 | 521 | G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886121EnsemblClinVar. | 1 | |
Natural variantiVAR_001940 | 521 | G → S in ATS1. Corresponds to variant dbSNP:rs104886121EnsemblClinVar. | 1 | |
Natural variantiVAR_011237 | 524 | G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886119EnsemblClinVar. | 1 | |
Natural variantiVAR_007994 | 545 | G → R in ATS1. Corresponds to variant dbSNP:rs104886126EnsemblClinVar. | 1 | |
Natural variantiVAR_007995 | 545 | G → V in ATS1. Corresponds to variant dbSNP:rs104886127EnsemblClinVar. | 1 | |
Natural variantiVAR_011238 | 558 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886129EnsemblClinVar. | 1 | |
Natural variantiVAR_007996 | 561 | G → R in ATS1. Corresponds to variant dbSNP:rs104886136EnsemblClinVar. | 1 | |
Natural variantiVAR_001941 | 567 | G → A in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886137EnsemblClinVar. | 1 | |
Natural variantiVAR_011239 | 573 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886138EnsemblClinVar. | 1 | |
Natural variantiVAR_011240 | 579 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886130EnsemblClinVar. | 1 | |
Natural variantiVAR_007997 | 579 | G → R in ATS1; adult type. Corresponds to variant dbSNP:rs104886139EnsemblClinVar. | 1 | |
Natural variantiVAR_011241 | 603 | G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886133EnsemblClinVar. | 1 | |
Natural variantiVAR_011242 | 609 | G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886135EnsemblClinVar. | 1 | |
Natural variantiVAR_001942 | 609 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886140EnsemblClinVar. | 1 | |
Natural variantiVAR_011244 | 621 | G → C in ATS1. Corresponds to variant dbSNP:rs104886141EnsemblClinVar. | 1 | |
Natural variantiVAR_011245 | 624 | G → D in ATS1. 2 PublicationsCorresponds to variant dbSNP:rs104886142EnsemblClinVar. | 1 | |
Natural variantiVAR_011246 | 629 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886144EnsemblClinVar. | 1 | |
Natural variantiVAR_011247 | 632 | G → D in ATS1. Corresponds to variant dbSNP:rs104886145EnsemblClinVar. | 1 | |
Natural variantiVAR_011248 | 633 | E → K in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886146EnsemblClinVar. | 1 | |
Natural variantiVAR_007998 | 635 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs281874683EnsemblClinVar. | 1 | |
Natural variantiVAR_001944 | 638 | G → A in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar. | 1 | |
Natural variantiVAR_007999 | 638 | G → S in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886147EnsemblClinVar. | 1 | |
Natural variantiVAR_001943 | 638 | G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar. | 1 | |
Natural variantiVAR_001945 | 653 | G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886150EnsemblClinVar. | 1 | |
Natural variantiVAR_008000 | 669 | G → A in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886151EnsemblClinVar. | 1 | |
Natural variantiVAR_011249 | 681 | G → D in ATS1. Corresponds to variant dbSNP:rs104886158EnsemblClinVar. | 1 | |
Natural variantiVAR_001947 | 684 | G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886160EnsemblClinVar. | 1 | |
Natural variantiVAR_008001 | 687 | G → E in ATS1. Corresponds to variant dbSNP:rs104886168EnsemblClinVar. | 1 | |
Natural variantiVAR_011250 | 722 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886163EnsemblClinVar. | 1 | |
Natural variantiVAR_011252 | 739 | P → S in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886164EnsemblClinVar. | 1 | |
Natural variantiVAR_001948 | 740 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886165EnsemblClinVar. | 1 | |
Natural variantiVAR_008002 | 743 | G → D in ATS1. Corresponds to variant dbSNP:rs104886166EnsemblClinVar. | 1 | |
Natural variantiVAR_001949 | 772 | G → D in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886173EnsemblClinVar. | 1 | |
Natural variantiVAR_001950 | 796 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886177EnsemblClinVar. | 1 | |
Natural variantiVAR_011254 | 802 – 807 | Missing in ATS1. 1 Publication | 6 | |
Natural variantiVAR_011253 | 802 | G → R in ATS1. Corresponds to variant dbSNP:rs104886179EnsemblClinVar. | 1 | |
Natural variantiVAR_008003 | 808 | G → E in ATS1; adult type. Corresponds to variant dbSNP:rs104886180EnsemblClinVar. | 1 | |
Natural variantiVAR_011255 | 811 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886183EnsemblClinVar. | 1 | |
Natural variantiVAR_008004 | 822 – 824 | Missing in ATS1. | 3 | |
Natural variantiVAR_011256 | 822 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886184EnsemblClinVar. | 1 | |
Natural variantiVAR_008005 | 852 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886187EnsemblClinVar. | 1 | |
Natural variantiVAR_001951 | 852 | G → R in ATS1. Corresponds to variant dbSNP:rs104886186EnsemblClinVar. | 1 | |
Natural variantiVAR_011257 | 864 – 875 | Missing in ATS1. 1 PublicationAdd BLAST | 12 | |
Natural variantiVAR_001952 | 866 | G → E in ATS1; adult type. Corresponds to variant dbSNP:rs104886188EnsemblClinVar. | 1 | |
Natural variantiVAR_001953 | 869 | G → R in ATS1; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs104886189EnsemblClinVar. | 1 | |
Natural variantiVAR_001954 | 872 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886190EnsemblClinVar. | 1 | |
Natural variantiVAR_008006 | 878 | G → R in ATS1. | 1 | |
Natural variantiVAR_011258 | 898 | M → V in ATS1; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs104886192EnsemblClinVar. | 1 | |
Natural variantiVAR_011259 | 902 | G → V in ATS1; juvenile type. 1 Publication | 1 | |
Natural variantiVAR_011260 | 911 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886363EnsemblClinVar. | 1 | |
Natural variantiVAR_011261 | 941 | G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886196EnsemblClinVar. | 1 | |
Natural variantiVAR_001955 | 942 | Missing in ATS1. | 1 | |
Natural variantiVAR_011262 | 947 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886370EnsemblClinVar. | 1 | |
Natural variantiVAR_011263 | 953 | G → V in ATS1; found on the same allele as variant Glu-1211. 1 PublicationCorresponds to variant dbSNP:rs78972735EnsemblClinVar. | 1 | |
Natural variantiVAR_008007 | 988 – 992 | Missing in ATS1; adult type. | 5 | |
Natural variantiVAR_011264 | 1006 | G → A in ATS1. 1 Publication | 1 | |
Natural variantiVAR_011265 | 1006 | G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886202EnsemblClinVar. | 1 | |
Natural variantiVAR_011266 | 1015 | G → E in ATS1. | 1 | |
Natural variantiVAR_011267 | 1015 | G → V in ATS1. Corresponds to variant dbSNP:rs104886211EnsemblClinVar. | 1 | |
Natural variantiVAR_011268 | 1030 | G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886210EnsemblClinVar. | 1 | |
Natural variantiVAR_011269 | 1036 | G → V in ATS1. Corresponds to variant dbSNP:rs104886212EnsemblClinVar. | 1 | |
Natural variantiVAR_011270 | 1039 | G → S in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886214EnsemblClinVar. | 1 | |
Natural variantiVAR_011271 | 1045 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886215EnsemblClinVar. | 1 | |
Natural variantiVAR_011272 | 1066 | G → R in ATS1. Corresponds to variant dbSNP:rs104886219EnsemblClinVar. | 1 | |
Natural variantiVAR_011273 | 1066 | G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886219EnsemblClinVar. | 1 | |
Natural variantiVAR_011274 | 1086 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886232EnsemblClinVar. | 1 | |
Natural variantiVAR_001956 | 1104 | G → V in ATS1. Corresponds to variant dbSNP:rs104886224EnsemblClinVar. | 1 | |
Natural variantiVAR_008008 | 1107 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886225EnsemblClinVar. | 1 | |
Natural variantiVAR_001957 | 1143 | G → D in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886229EnsemblClinVar. | 1 | |
Natural variantiVAR_001958 | 1143 | G → S in ATS1; adult type. Corresponds to variant dbSNP:rs104886228EnsemblClinVar. | 1 | |
Natural variantiVAR_011275 | 1158 | G → R in ATS1. 1 Publication | 1 | |
Natural variantiVAR_008009 | 1161 | G → R in ATS1. Corresponds to variant dbSNP:rs104886235EnsemblClinVar. | 1 | |
Natural variantiVAR_011276 | 1167 | G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886236EnsemblClinVar. | 1 | |
Natural variantiVAR_011277 | 1170 | G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886237EnsemblClinVar. | 1 | |
Natural variantiVAR_001959 | 1182 | G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886242EnsemblClinVar. | 1 | |
Natural variantiVAR_011278 | 1196 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886244EnsemblClinVar. | 1 | |
Natural variantiVAR_011279 | 1205 | G → C in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886245EnsemblClinVar. | 1 | |
Natural variantiVAR_011280 | 1211 | G → E in ATS1; found on the same allele as variant Val-953. Corresponds to variant dbSNP:rs104886247EnsemblClinVar. | 1 | |
Natural variantiVAR_008010 | 1211 | G → R in ATS1. Corresponds to variant dbSNP:rs104886246EnsemblClinVar. | 1 | |
Natural variantiVAR_008011 | 1220 | G → D in ATS1. Corresponds to variant dbSNP:rs104886251EnsemblClinVar. | 1 | |
Natural variantiVAR_011281 | 1229 | G → D in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886253EnsemblClinVar. | 1 | |
Natural variantiVAR_001960 | 1241 | G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886255EnsemblClinVar. | 1 | |
Natural variantiVAR_011282 | 1244 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886261EnsemblClinVar. | 1 | |
Natural variantiVAR_011283 | 1252 | G → S in ATS1; adult type. Corresponds to variant dbSNP:rs104886262EnsemblClinVar. | 1 | |
Natural variantiVAR_011284 | 1261 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886264EnsemblClinVar. | 1 | |
Natural variantiVAR_001961 | 1270 | G → S in ATS1. Corresponds to variant dbSNP:rs104886257EnsemblClinVar. | 1 | |
Natural variantiVAR_008012 | 1333 | G → S in ATS1. Corresponds to variant dbSNP:rs104886266EnsemblClinVar. | 1 | |
Natural variantiVAR_011285 | 1357 | G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886267EnsemblClinVar. | 1 | |
Natural variantiVAR_001962 | 1379 | G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886269EnsemblClinVar. | 1 | |
Natural variantiVAR_001963 | 1410 | R → C in ATS1; adult and juvenile types. 1 PublicationCorresponds to variant dbSNP:rs104886270EnsemblClinVar. | 1 | |
Natural variantiVAR_001964 | 1421 | G → W in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886272EnsemblClinVar. | 1 | |
Natural variantiVAR_001965 | 1422 | R → C in ATS1; juvenile type. Corresponds to variant dbSNP:rs144282156EnsemblClinVar. | 1 | |
Natural variantiVAR_008013 | 1427 | G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886274EnsemblClinVar. | 1 | |
Natural variantiVAR_008014 | 1442 | G → D in ATS1. Corresponds to variant dbSNP:rs104886277EnsemblClinVar. | 1 | |
Natural variantiVAR_001966 | 1451 | G → S in ATS1. Corresponds to variant dbSNP:rs104886280EnsemblClinVar. | 1 | |
Natural variantiVAR_008015 | 1486 | G → A in ATS1; adult type. Corresponds to variant dbSNP:rs104886282EnsemblClinVar. | 1 | |
Natural variantiVAR_011287 | 1488 | S → F in ATS1. Corresponds to variant dbSNP:rs104886283EnsemblClinVar. | 1 | |
Natural variantiVAR_001967 | 1498 | A → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886284EnsemblClinVar. | 1 | |
Natural variantiVAR_011288 | 1511 | R → H in ATS1; juvenile type; could be a non pathogenic variant. 1 PublicationCorresponds to variant dbSNP:rs104886285EnsemblClinVar. | 1 | |
Natural variantiVAR_001968 | 1517 | P → T in ATS1; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs201220208EnsemblClinVar. | 1 | |
Natural variantiVAR_001969 | 1538 | W → S in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886293EnsemblClinVar. | 1 | |
Natural variantiVAR_001970 | 1563 | R → Q in ATS1. 1 PublicationCorresponds to variant dbSNP:rs281874743EnsemblClinVar. | 1 | |
Natural variantiVAR_001971 | 1564 | C → S in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886287EnsemblClinVar. | 1 | |
Natural variantiVAR_011289 | 1567 | C → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886288EnsemblClinVar. | 1 | |
Natural variantiVAR_001972 | 1596 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886297EnsemblClinVar. | 1 | |
Natural variantiVAR_019594 | 1597 – 1685 | Missing in ATS1. 1 PublicationAdd BLAST | 89 | |
Natural variantiVAR_001973 | 1649 | L → R in ATS1; adult type. 3 PublicationsCorresponds to variant dbSNP:rs104886303EnsemblClinVar. | 1 | |
Natural variantiVAR_011290 | 1677 | R → P in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar. | 1 | |
Natural variantiVAR_001974 | 1677 | R → Q in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar. | 1 | |
Natural variantiVAR_011291 | 1678 | C → W in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886311EnsemblClinVar. | 1 | |
Natural variantiVAR_019595 | 1679 – 1685 | Missing in ATS1. | 7 |
Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).
Keywords - Diseasei
Alport syndrome, Deafness, Disease mutationOrganism-specific databases
DisGeNETi | 1287 |
GeneReviewsi | COL4A5 |
MalaCardsi | COL4A5 |
MIMi | 301050 phenotype |
OpenTargetsi | ENSG00000188153 |
Orphaneti | 97562 NON RARE IN EUROPE: Benign familial hematuria 88917 X-linked Alport syndrome 1018 X-linked Alport syndrome-diffuse leiomyomatosis |
PharmGKBi | PA26722 |
Miscellaneous databases
Pharosi | P29400 |
Chemistry databases
ChEMBLi | CHEMBL2364188 |
Polymorphism and mutation databases
BioMutai | COL4A5 |
DMDMi | 461675 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 26 | Sequence analysisAdd BLAST | 26 | |
ChainiPRO_0000005852 | 27 – 1685 | Collagen alpha-5(IV) chainAdd BLAST | 1659 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 125 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 451 | InterchainPROSITE-ProRule annotation | ||
Disulfide bondi | 481 | InterchainPROSITE-ProRule annotation | ||
Disulfide bondi | 484 | InterchainPROSITE-ProRule annotation | ||
Disulfide bondi | 1476 ↔ 1567 | Or C-1476 with C-1564PROSITE-ProRule annotation | ||
Disulfide bondi | 1509 ↔ 1564 | Or C-1509 with C-1567PROSITE-ProRule annotation | ||
Disulfide bondi | 1521 ↔ 1527 | PROSITE-ProRule annotation | ||
Cross-linki | 1549 | S-Lysyl-methionine sulfilimine (Met-Lys) (interchain with K-1667)By similarity | ||
Disulfide bondi | 1586 ↔ 1681 | Or C-1586 with C-1678PROSITE-ProRule annotation | ||
Disulfide bondi | 1620 ↔ 1678 | Or C-1620 with C-1681PROSITE-ProRule annotation | ||
Disulfide bondi | 1632 ↔ 1638 | PROSITE-ProRule annotation | ||
Cross-linki | 1667 | S-Lysyl-methionine sulfilimine (Lys-Met) (interchain with M-1549)By similarity |
Post-translational modificationi
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.
The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.By similarity
Keywords - PTMi
Disulfide bond, Glycoprotein, HydroxylationProteomic databases
EPDi | P29400 |
jPOSTi | P29400 |
MassIVEi | P29400 |
MaxQBi | P29400 |
PaxDbi | P29400 |
PeptideAtlasi | P29400 |
PRIDEi | P29400 |
ProteomicsDBi | 54566 [P29400-1] 54567 [P29400-2] |
PTM databases
iPTMneti | P29400 |
PhosphoSitePlusi | P29400 |
Expressioni
Tissue specificityi
Isoform 2 is found in kidney.
Gene expression databases
Bgeei | ENSG00000188153 Expressed in 214 organ(s), highest expression level in esophagus |
ExpressionAtlasi | P29400 baseline and differential |
Genevisiblei | P29400 HS |
Organism-specific databases
HPAi | HPA065449 |
Interactioni
Subunit structurei
There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network.
Protein-protein interaction databases
BioGridi | 107684, 23 interactors |
ComplexPortali | CPX-1724 Collagen type IV trimer variant 2 CPX-1725 Collagen type IV trimer variant 3 |
IntActi | P29400, 45 interactors |
MINTi | P29400 |
STRINGi | 9606.ENSP00000331902 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P29400 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1461 – 1685 | Collagen IV NC1PROSITE-ProRule annotationAdd BLAST | 225 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 27 – 41 | Nonhelical region (NC2)Add BLAST | 15 | |
Regioni | 42 – 1456 | Triple-helical regionAdd BLAST | 1415 |
Domaini
Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domain.
Sequence similaritiesi
Belongs to the type IV collagen family.PROSITE-ProRule annotation
Keywords - Domaini
Collagen, Repeat, SignalPhylogenomic databases
GeneTreei | ENSGT00940000162034 |
HOGENOMi | HOG000085652 |
InParanoidi | P29400 |
KOi | K06237 |
OMAi | DGNDYAH |
OrthoDBi | 1010560at2759 |
TreeFami | TF344135 |
Family and domain databases
Gene3Di | 2.170.240.10, 1 hit |
InterProi | View protein in InterPro IPR008160 Collagen IPR001442 Collagen_IV_NC IPR036954 Collagen_IV_NC_sf IPR016187 CTDL_fold |
Pfami | View protein in Pfam PF01413 C4, 2 hits PF01391 Collagen, 20 hits |
SMARTi | View protein in SMART SM00111 C4, 2 hits |
SUPFAMi | SSF56436 SSF56436, 2 hits |
PROSITEi | View protein in PROSITE PS51403 NC1_IV, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P29400-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER
60 70 80 90 100
GFPGLEGHPG LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF
110 120 130 140 150
PGTPGLPGMP GHDGAPGPQG IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG
160 170 180 190 200
IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG IQGLPGPTGI PGPIGPPGPP
210 220 230 240 250
GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP PGQISEQKRP
260 270 280 290 300
IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP
310 320 330 340 350
GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG
360 370 380 390 400
TGITIGEKGN IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG
410 420 430 440 450
FPGERGQKGD EGPPGISIPG PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI
460 470 480 490 500
CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT CFNCIGTGIS GPPGQPGLPG
510 520 530 540 550
LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF PGSKGEPGDI
560 570 580 590 600
LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG
610 620 630 640 650
ERGPPGNPGL PGLPGNIGPM GPPGFGPPGP VGEKGIQGVA GNPGQPGIPG
660 670 680 690 700
PKGDPGQTIT QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE
710 720 730 740 750
PGIPGIGLPG PPGPKGFPGI PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE
760 770 780 790 800
PGFALPGPPG PPGLPGFKGA LGPKGDRGFP GPPGPPGRTG LDGLPGPKGD
810 820 830 840 850
VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG IPGEKGDPGP
860 870 880 890 900
PGLDVPGPPG ERGSPGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM
910 920 930 940 950
MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGEPGLPG
960 970 980 990 1000
PPGPMDPNLL GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG
1010 1020 1030 1040 1050
LPGPPGPKGN PGLPGQPGLI GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP
1060 1070 1080 1090 1100
GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG PKGEPGLPGY PGNPGIKGSV
1110 1120 1130 1140 1150
GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG NPGLPGEPGP
1160 1170 1180 1190 1200
VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL
1210 1220 1230 1240 1250
SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP
1260 1270 1280 1290 1300
KGNPGPQGPP GRPGLPGPEG PPGLPGNGGI KGEKGNPGQP GLPGLPGLKG
1310 1320 1330 1340 1350
DQGPPGLQGN PGRPGLNGMK GDPGLPGVPG FPGMKGPSGV PGSAGPEGEP
1360 1370 1380 1390 1400
GLIGPPGPPG LPGPSGQSII IKGDAGPPGI PGQPGLKGLP GPQGPQGLPG
1410 1420 1430 1440 1450
PTGPPGDPGR NGLPGFDGAG GRKGDPGLPG QPGTRGLDGP PGPDGLQGPP
1460 1470 1480 1490 1500
GPPGTSSVAH GFLITRHSQT TDAPQCPQGT LQVYEGFSLL YVQGNKRAHG
1510 1520 1530 1540 1550
QDLGTAGSCL RRFSTMPFMF CNINNVCNFA SRNDYSYWLS TPEPMPMSMQ
1560 1570 1580 1590 1600
PLKGQSIQPF ISRCAVCEAP AVVIAVHSQT IQIPHCPQGW DSLWIGYSFM
1610 1620 1630 1640 1650
MHTSAGAEGS GQALASPGSC LEEFRSAPFI ECHGRGTCNY YANSYSFWLA
1660 1670 1680
TVDVSDMFSK PQSETLKAGD LRTRISRCQV CMKRT
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y998 | H0Y998_HUMAN | Collagen alpha-5(IV) chain | COL4A5 | 115 | Annotation score: | ||
Q49AM6 | Q49AM6_HUMAN | COL4A5 protein | COL4A5 | 695 | Annotation score: | ||
H0Y9H0 | H0Y9H0_HUMAN | Collagen alpha-5(IV) chain | COL4A5 | 174 | Annotation score: | ||
H0Y9R8 | H0Y9R8_HUMAN | Collagen alpha-5(IV) chain | COL4A5 | 73 | Annotation score: | ||
A0A2R8Y5W0 | A0A2R8Y5W0_HUMAN | Collagen alpha-5(IV) chain | COL4A5 | 40 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 440 – 441 | AG → GS in AAA99480 (PubMed:2380186).Curated | 2 | |
Sequence conflicti | 625 – 628 | FGPP → LALQ in AAA99480 (PubMed:2380186).Curated | 4 | |
Sequence conflicti | 667 – 668 | LP → FR in AAA99480 (PubMed:2380186).Curated | 2 | |
Sequence conflicti | 888 | A → R in AAA99480 (PubMed:2380186).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_001914 | 54 | G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886043EnsemblClinVar. | 1 | |
Natural variantiVAR_007991 | 114 | G → S in ATS1. | 1 | |
Natural variantiVAR_071932 | 123 | G → E in ATS1. 1 Publication | 1 | |
Natural variantiVAR_001915 | 129 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar. | 1 | |
Natural variantiVAR_001916 | 129 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar. | 1 | |
Natural variantiVAR_001917 | 174 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886055EnsemblClinVar. | 1 | |
Natural variantiVAR_011220 | 177 | G → C in ATS1; presenting with dot-and-fleck retinopathy. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar. | 1 | |
Natural variantiVAR_001918 | 177 | G → R in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar. | 1 | |
Natural variantiVAR_011221 | 192 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886060EnsemblClinVar. | 1 | |
Natural variantiVAR_011222 | 204 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886063EnsemblClinVar. | 1 | |
Natural variantiVAR_001919 | 216 | G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886067EnsemblClinVar. | 1 | |
Natural variantiVAR_001920 | 219 | G → S in ATS1. Corresponds to variant dbSNP:rs104886075EnsemblClinVar. | 1 | |
Natural variantiVAR_011223 | 230 | G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886076EnsemblClinVar. | 1 | |
Natural variantiVAR_011224 | 239 | G → E in ATS1. Corresponds to variant dbSNP:rs104886068EnsemblClinVar. | 1 | |
Natural variantiVAR_011225 | 264 | G → R in ATS1; adult type. Corresponds to variant dbSNP:rs104886069EnsemblClinVar. | 1 | |
Natural variantiVAR_001921 | 289 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886450EnsemblClinVar. | 1 | |
Natural variantiVAR_011226 | 292 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886073EnsemblClinVar. | 1 | |
Natural variantiVAR_001922 | 292 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886078EnsemblClinVar. | 1 | |
Natural variantiVAR_011227 | 295 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886079EnsemblClinVar. | 1 | |
Natural variantiVAR_011228 | 298 | G → S in ATS1. Corresponds to variant dbSNP:rs104886080EnsemblClinVar. | 1 | |
Natural variantiVAR_011229 | 319 | G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886085EnsemblClinVar. | 1 | |
Natural variantiVAR_001923 | 325 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886091EnsemblClinVar. | 1 | |
Natural variantiVAR_001924 | 325 | G → R in ATS1; juvenile and adult types. 3 PublicationsCorresponds to variant dbSNP:rs104886088EnsemblClinVar. | 1 | |
Natural variantiVAR_007992 | 331 | G → V in ATS1. Corresponds to variant dbSNP:rs104886092EnsemblClinVar. | 1 | |
Natural variantiVAR_001926 | 365 – 367 | Missing in ATS1; juvenile type. | 3 | |
Natural variantiVAR_001925 | 365 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886096EnsemblClinVar. | 1 | |
Natural variantiVAR_001927 | 371 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886097EnsemblClinVar. | 1 | |
Natural variantiVAR_001928 | 374 | G → A in ATS1. Corresponds to variant dbSNP:rs104886108EnsemblClinVar. | 1 | |
Natural variantiVAR_001929 | 383 | G → D in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886105EnsemblClinVar. | 1 | |
Natural variantiVAR_001930 | 400 | G → E in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886107EnsemblClinVar. | 1 | |
Natural variantiVAR_001931 | 406 | G → V in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886100EnsemblClinVar. | 1 | |
Natural variantiVAR_001932 | 409 | G → D in ATS1. Corresponds to variant dbSNP:rs104886101EnsemblClinVar. | 1 | |
Natural variantiVAR_011230 | 412 | G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886102EnsemblClinVar. | 1 | |
Natural variantiVAR_011231 | 415 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886103EnsemblClinVar. | 1 | |
Natural variantiVAR_011232 | 420 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874663EnsemblClinVar. | 1 | |
Natural variantiVAR_011233 | 420 | G → V in ATS1. 1 Publication | 1 | |
Natural variantiVAR_011234 | 423 | G → E in ATS1. Corresponds to variant dbSNP:rs104886110EnsemblClinVar. | 1 | |
Natural variantiVAR_001933 | 430 | A → D1 PublicationCorresponds to variant dbSNP:rs142883891EnsemblClinVar. | 1 | |
Natural variantiVAR_001934 | 444 | I → S3 PublicationsCorresponds to variant dbSNP:rs2272946EnsemblClinVar. | 1 | |
Natural variantiVAR_001935 | 456 – 458 | Missing in ATS1. 1 Publication | 3 | |
Natural variantiVAR_001936 | 466 | G → E in ATS1. Corresponds to variant dbSNP:rs104886114EnsemblClinVar. | 1 | |
Natural variantiVAR_007993 | 472 | G → R in ATS1. Corresponds to variant dbSNP:rs104886116EnsemblClinVar. | 1 | |
Natural variantiVAR_011235 | 491 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886117EnsemblClinVar. | 1 | |
Natural variantiVAR_001937 | 494 | G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886118EnsemblClinVar. | 1 | |
Natural variantiVAR_001938 | 496 – 507 | Missing in ATS1; juvenile type. Add BLAST | 12 | |
Natural variantiVAR_011236 | 497 | G → C in ATS1; adult type. Corresponds to variant dbSNP:rs104886120EnsemblClinVar. | 1 | |
Natural variantiVAR_001939 | 521 | G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886121EnsemblClinVar. | 1 | |
Natural variantiVAR_001940 | 521 | G → S in ATS1. Corresponds to variant dbSNP:rs104886121EnsemblClinVar. | 1 | |
Natural variantiVAR_011237 | 524 | G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886119EnsemblClinVar. | 1 | |
Natural variantiVAR_007994 | 545 | G → R in ATS1. Corresponds to variant dbSNP:rs104886126EnsemblClinVar. | 1 | |
Natural variantiVAR_007995 | 545 | G → V in ATS1. Corresponds to variant dbSNP:rs104886127EnsemblClinVar. | 1 | |
Natural variantiVAR_011238 | 558 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886129EnsemblClinVar. | 1 | |
Natural variantiVAR_007996 | 561 | G → R in ATS1. Corresponds to variant dbSNP:rs104886136EnsemblClinVar. | 1 | |
Natural variantiVAR_001941 | 567 | G → A in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886137EnsemblClinVar. | 1 | |
Natural variantiVAR_011239 | 573 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886138EnsemblClinVar. | 1 | |
Natural variantiVAR_011240 | 579 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886130EnsemblClinVar. | 1 | |
Natural variantiVAR_007997 | 579 | G → R in ATS1; adult type. Corresponds to variant dbSNP:rs104886139EnsemblClinVar. | 1 | |
Natural variantiVAR_011241 | 603 | G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886133EnsemblClinVar. | 1 | |
Natural variantiVAR_011242 | 609 | G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886135EnsemblClinVar. | 1 | |
Natural variantiVAR_001942 | 609 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886140EnsemblClinVar. | 1 | |
Natural variantiVAR_011243 | 619 | P → S1 Publication | 1 | |
Natural variantiVAR_011244 | 621 | G → C in ATS1. Corresponds to variant dbSNP:rs104886141EnsemblClinVar. | 1 | |
Natural variantiVAR_011245 | 624 | G → D in ATS1. 2 PublicationsCorresponds to variant dbSNP:rs104886142EnsemblClinVar. | 1 | |
Natural variantiVAR_011246 | 629 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886144EnsemblClinVar. | 1 | |
Natural variantiVAR_011247 | 632 | G → D in ATS1. Corresponds to variant dbSNP:rs104886145EnsemblClinVar. | 1 | |
Natural variantiVAR_011248 | 633 | E → K in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886146EnsemblClinVar. | 1 | |
Natural variantiVAR_007998 | 635 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs281874683EnsemblClinVar. | 1 | |
Natural variantiVAR_001944 | 638 | G → A in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar. | 1 | |
Natural variantiVAR_007999 | 638 | G → S in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886147EnsemblClinVar. | 1 | |
Natural variantiVAR_001943 | 638 | G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar. | 1 | |
Natural variantiVAR_001945 | 653 | G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886150EnsemblClinVar. | 1 | |
Natural variantiVAR_001946 | 664 | K → N1 PublicationCorresponds to variant dbSNP:rs34077552EnsemblClinVar. | 1 | |
Natural variantiVAR_008000 | 669 | G → A in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886151EnsemblClinVar. | 1 | |
Natural variantiVAR_011249 | 681 | G → D in ATS1. Corresponds to variant dbSNP:rs104886158EnsemblClinVar. | 1 | |
Natural variantiVAR_001947 | 684 | G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886160EnsemblClinVar. | 1 | |
Natural variantiVAR_008001 | 687 | G → E in ATS1. Corresponds to variant dbSNP:rs104886168EnsemblClinVar. | 1 | |
Natural variantiVAR_011250 | 722 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886163EnsemblClinVar. | 1 | |
Natural variantiVAR_011251 | 739 | P → A1 PublicationCorresponds to variant dbSNP:rs104886164EnsemblClinVar. | 1 | |
Natural variantiVAR_011252 | 739 | P → S in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886164EnsemblClinVar. | 1 | |
Natural variantiVAR_001948 | 740 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886165EnsemblClinVar. | 1 | |
Natural variantiVAR_008002 | 743 | G → D in ATS1. Corresponds to variant dbSNP:rs104886166EnsemblClinVar. | 1 | |
Natural variantiVAR_001949 | 772 | G → D in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886173EnsemblClinVar. | 1 | |
Natural variantiVAR_001950 | 796 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886177EnsemblClinVar. | 1 | |
Natural variantiVAR_011254 | 802 – 807 | Missing in ATS1. 1 Publication | 6 | |
Natural variantiVAR_011253 | 802 | G → R in ATS1. Corresponds to variant dbSNP:rs104886179EnsemblClinVar. | 1 | |
Natural variantiVAR_008003 | 808 | G → E in ATS1; adult type. Corresponds to variant dbSNP:rs104886180EnsemblClinVar. | 1 | |
Natural variantiVAR_011255 | 811 | G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886183EnsemblClinVar. | 1 | |
Natural variantiVAR_008004 | 822 – 824 | Missing in ATS1. | 3 | |
Natural variantiVAR_011256 | 822 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886184EnsemblClinVar. | 1 | |
Natural variantiVAR_008005 | 852 | G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886187EnsemblClinVar. | 1 | |
Natural variantiVAR_001951 | 852 | G → R in ATS1. Corresponds to variant dbSNP:rs104886186EnsemblClinVar. | 1 | |
Natural variantiVAR_011257 | 864 – 875 | Missing in ATS1. 1 PublicationAdd BLAST | 12 | |
Natural variantiVAR_001952 | 866 | G → E in ATS1; adult type. Corresponds to variant dbSNP:rs104886188EnsemblClinVar. | 1 | |
Natural variantiVAR_001953 | 869 | G → R in ATS1; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs104886189EnsemblClinVar. | 1 | |
Natural variantiVAR_001954 | 872 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886190EnsemblClinVar. | 1 | |
Natural variantiVAR_008006 | 878 | G → R in ATS1. | 1 | |
Natural variantiVAR_011258 | 898 | M → V in ATS1; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs104886192EnsemblClinVar. | 1 | |
Natural variantiVAR_011259 | 902 | G → V in ATS1; juvenile type. 1 Publication | 1 | |
Natural variantiVAR_011260 | 911 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886363EnsemblClinVar. | 1 | |
Natural variantiVAR_011261 | 941 | G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886196EnsemblClinVar. | 1 | |
Natural variantiVAR_001955 | 942 | Missing in ATS1. | 1 | |
Natural variantiVAR_011262 | 947 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886370EnsemblClinVar. | 1 | |
Natural variantiVAR_011263 | 953 | G → V in ATS1; found on the same allele as variant Glu-1211. 1 PublicationCorresponds to variant dbSNP:rs78972735EnsemblClinVar. | 1 | |
Natural variantiVAR_008007 | 988 – 992 | Missing in ATS1; adult type. | 5 | |
Natural variantiVAR_011264 | 1006 | G → A in ATS1. 1 Publication | 1 | |
Natural variantiVAR_011265 | 1006 | G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886202EnsemblClinVar. | 1 | |
Natural variantiVAR_011266 | 1015 | G → E in ATS1. | 1 | |
Natural variantiVAR_011267 | 1015 | G → V in ATS1. Corresponds to variant dbSNP:rs104886211EnsemblClinVar. | 1 | |
Natural variantiVAR_011268 | 1030 | G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886210EnsemblClinVar. | 1 | |
Natural variantiVAR_011269 | 1036 | G → V in ATS1. Corresponds to variant dbSNP:rs104886212EnsemblClinVar. | 1 | |
Natural variantiVAR_011270 | 1039 | G → S in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886214EnsemblClinVar. | 1 | |
Natural variantiVAR_011271 | 1045 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886215EnsemblClinVar. | 1 | |
Natural variantiVAR_011272 | 1066 | G → R in ATS1. Corresponds to variant dbSNP:rs104886219EnsemblClinVar. | 1 | |
Natural variantiVAR_011273 | 1066 | G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886219EnsemblClinVar. | 1 | |
Natural variantiVAR_011274 | 1086 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886232EnsemblClinVar. | 1 | |
Natural variantiVAR_001956 | 1104 | G → V in ATS1. Corresponds to variant dbSNP:rs104886224EnsemblClinVar. | 1 | |
Natural variantiVAR_008008 | 1107 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886225EnsemblClinVar. | 1 | |
Natural variantiVAR_001957 | 1143 | G → D in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886229EnsemblClinVar. | 1 | |
Natural variantiVAR_001958 | 1143 | G → S in ATS1; adult type. Corresponds to variant dbSNP:rs104886228EnsemblClinVar. | 1 | |
Natural variantiVAR_011275 | 1158 | G → R in ATS1. 1 Publication | 1 | |
Natural variantiVAR_008009 | 1161 | G → R in ATS1. Corresponds to variant dbSNP:rs104886235EnsemblClinVar. | 1 | |
Natural variantiVAR_011276 | 1167 | G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886236EnsemblClinVar. | 1 | |
Natural variantiVAR_011277 | 1170 | G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886237EnsemblClinVar. | 1 | |
Natural variantiVAR_001959 | 1182 | G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886242EnsemblClinVar. | 1 | |
Natural variantiVAR_011278 | 1196 | G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886244EnsemblClinVar. | 1 | |
Natural variantiVAR_011279 | 1205 | G → C in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886245EnsemblClinVar. | 1 | |
Natural variantiVAR_011280 | 1211 | G → E in ATS1; found on the same allele as variant Val-953. Corresponds to variant dbSNP:rs104886247EnsemblClinVar. | 1 | |
Natural variantiVAR_008010 | 1211 | G → R in ATS1. Corresponds to variant dbSNP:rs104886246EnsemblClinVar. | 1 | |
Natural variantiVAR_008011 | 1220 | G → D in ATS1. Corresponds to variant dbSNP:rs104886251EnsemblClinVar. | 1 | |
Natural variantiVAR_011281 | 1229 | G → D in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886253EnsemblClinVar. | 1 | |
Natural variantiVAR_001960 | 1241 | G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886255EnsemblClinVar. | 1 | |
Natural variantiVAR_011282 | 1244 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886261EnsemblClinVar. | 1 | |
Natural variantiVAR_011283 | 1252 | G → S in ATS1; adult type. Corresponds to variant dbSNP:rs104886262EnsemblClinVar. | 1 | |
Natural variantiVAR_011284 | 1261 | G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886264EnsemblClinVar. | 1 | |
Natural variantiVAR_001961 | 1270 | G → S in ATS1. Corresponds to variant dbSNP:rs104886257EnsemblClinVar. | 1 | |
Natural variantiVAR_008012 | 1333 | G → S in ATS1. Corresponds to variant dbSNP:rs104886266EnsemblClinVar. | 1 | |
Natural variantiVAR_011285 | 1357 | G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886267EnsemblClinVar. | 1 | |
Natural variantiVAR_001962 | 1379 | G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886269EnsemblClinVar. | 1 | |
Natural variantiVAR_001963 | 1410 | R → C in ATS1; adult and juvenile types. 1 PublicationCorresponds to variant dbSNP:rs104886270EnsemblClinVar. | 1 | |
Natural variantiVAR_001964 | 1421 | G → W in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886272EnsemblClinVar. | 1 | |
Natural variantiVAR_001965 | 1422 | R → C in ATS1; juvenile type. Corresponds to variant dbSNP:rs144282156EnsemblClinVar. | 1 | |
Natural variantiVAR_008013 | 1427 | G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886274EnsemblClinVar. | 1 | |
Natural variantiVAR_011286 | 1428 | L → M1 Publication | 1 | |
Natural variantiVAR_008014 | 1442 | G → D in ATS1. Corresponds to variant dbSNP:rs104886277EnsemblClinVar. | 1 | |
Natural variantiVAR_001966 | 1451 | G → S in ATS1. Corresponds to variant dbSNP:rs104886280EnsemblClinVar. | 1 | |
Natural variantiVAR_008015 | 1486 | G → A in ATS1; adult type. Corresponds to variant dbSNP:rs104886282EnsemblClinVar. | 1 | |
Natural variantiVAR_011287 | 1488 | S → F in ATS1. Corresponds to variant dbSNP:rs104886283EnsemblClinVar. | 1 | |
Natural variantiVAR_001967 | 1498 | A → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886284EnsemblClinVar. | 1 | |
Natural variantiVAR_011288 | 1511 | R → H in ATS1; juvenile type; could be a non pathogenic variant. 1 PublicationCorresponds to variant dbSNP:rs104886285EnsemblClinVar. | 1 | |
Natural variantiVAR_001968 | 1517 | P → T in ATS1; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs201220208EnsemblClinVar. | 1 | |
Natural variantiVAR_001969 | 1538 | W → S in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886293EnsemblClinVar. | 1 | |
Natural variantiVAR_008016 | 1559 | P → A. Corresponds to variant dbSNP:rs104886295EnsemblClinVar. | 1 | |
Natural variantiVAR_001970 | 1563 | R → Q in ATS1. 1 PublicationCorresponds to variant dbSNP:rs281874743EnsemblClinVar. | 1 | |
Natural variantiVAR_001971 | 1564 | C → S in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886287EnsemblClinVar. | 1 | |
Natural variantiVAR_011289 | 1567 | C → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886288EnsemblClinVar. | 1 | |
Natural variantiVAR_001972 | 1596 | G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886297EnsemblClinVar. | 1 | |
Natural variantiVAR_019594 | 1597 – 1685 | Missing in ATS1. 1 PublicationAdd BLAST | 89 | |
Natural variantiVAR_001973 | 1649 | L → R in ATS1; adult type. 3 PublicationsCorresponds to variant dbSNP:rs104886303EnsemblClinVar. | 1 | |
Natural variantiVAR_011290 | 1677 | R → P in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar. | 1 | |
Natural variantiVAR_001974 | 1677 | R → Q in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar. | 1 | |
Natural variantiVAR_011291 | 1678 | C → W in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886311EnsemblClinVar. | 1 | |
Natural variantiVAR_019595 | 1679 – 1685 | Missing in ATS1. | 7 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_001173 | 1264 | G → GPTGFQG in isoform 2. Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M58526 mRNA Translation: AAA99480.1 AL034369 Genomic DNA No translation available. AL035425 Genomic DNA No translation available. AL031622 Genomic DNA No translation available. AL136364 Genomic DNA No translation available. CH471120 Genomic DNA Translation: EAX02683.1 M90464 mRNA Translation: AAA52046.1 U04520 U04519 Genomic DNA Translation: AAC27816.1 U04520 U04519 Genomic DNA Translation: AAF66217.2 M63473 M63472 Genomic DNA Translation: AAA51558.1 M31115 mRNA Translation: AAA52045.1 Z37153 Genomic DNA Translation: CAA85512.1 S69168 mRNA Translation: AAC60612.1 S59334 mRNA Translation: AAD13909.1 S75903 Genomic DNA Translation: AAB33374.1 |
CCDSi | CCDS14543.1 [P29400-1] CCDS35366.1 [P29400-2] |
PIRi | S22917 |
RefSeqi | NP_000486.1, NM_000495.4 [P29400-1] NP_203699.1, NM_033380.2 [P29400-2] |
Genome annotation databases
Ensembli | ENST00000328300; ENSP00000331902; ENSG00000188153 [P29400-2] ENST00000361603; ENSP00000354505; ENSG00000188153 [P29400-1] |
GeneIDi | 1287 |
KEGGi | hsa:1287 |
UCSCi | uc004enz.3 human [P29400-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangement, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Alport syndrome and COL4A5 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M58526 mRNA Translation: AAA99480.1 AL034369 Genomic DNA No translation available. AL035425 Genomic DNA No translation available. AL031622 Genomic DNA No translation available. AL136364 Genomic DNA No translation available. CH471120 Genomic DNA Translation: EAX02683.1 M90464 mRNA Translation: AAA52046.1 U04520 U04519 Genomic DNA Translation: AAC27816.1 U04520 U04519 Genomic DNA Translation: AAF66217.2 M63473 M63472 Genomic DNA Translation: AAA51558.1 M31115 mRNA Translation: AAA52045.1 Z37153 Genomic DNA Translation: CAA85512.1 S69168 mRNA Translation: AAC60612.1 S59334 mRNA Translation: AAD13909.1 S75903 Genomic DNA Translation: AAB33374.1 |
CCDSi | CCDS14543.1 [P29400-1] CCDS35366.1 [P29400-2] |
PIRi | S22917 |
RefSeqi | NP_000486.1, NM_000495.4 [P29400-1] NP_203699.1, NM_033380.2 [P29400-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5NAZ | X-ray | 1.85 | A | 1457-1685 | [»] | |
SMRi | P29400 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGridi | 107684, 23 interactors |
ComplexPortali | CPX-1724 Collagen type IV trimer variant 2 |