UniProtKB - P29400 (CO4A5_HUMAN)

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History
Entry version 210 (18 Jul 2018)
Sequence version 2 (01 Feb 1994)
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Protein

Collagen alpha-5(IV) chain

Gene

COL4A5

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

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: InterPro

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

collagen-activated tyrosine kinase receptor signaling pathway Source: Ensembl
extracellular matrix organization Source: Reactome
neuromuscular junction development Source: Ensembl

View the complete GO annotation on QuickGO ...

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

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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000188153.12
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:2207 COL4A5
MIMⁱ	303630 gene
neXtProtⁱ	NX_P29400

Keywords - Cellular componentⁱ

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Alport syndrome, X-linked (APSX)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.

See also OMIM:301050

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_001914	54	G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886043EnsemblClinVar.	1
Natural variantⁱVAR_007991	114	G → S in APSX.	1
Natural variantⁱVAR_071932	123	G → E in APSX. 1 Publication	1
Natural variantⁱVAR_001915	129	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.	1
Natural variantⁱVAR_001916	129	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.	1
Natural variantⁱVAR_001917	174	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886055EnsemblClinVar.	1
Natural variantⁱVAR_011220	177	G → C in APSX; presenting with dot-and-fleck retinopathy. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.	1
Natural variantⁱVAR_001918	177	G → R in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.	1
Natural variantⁱVAR_011221	192	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886060EnsemblClinVar.	1
Natural variantⁱVAR_011222	204	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886063EnsemblClinVar.	1
Natural variantⁱVAR_001919	216	G → R in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886067EnsemblClinVar.	1
Natural variantⁱVAR_001920	219	G → S in APSX. Corresponds to variant dbSNP:rs104886075EnsemblClinVar.	1
Natural variantⁱVAR_011223	230	G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886076EnsemblClinVar.	1
Natural variantⁱVAR_011224	239	G → E in APSX. Corresponds to variant dbSNP:rs104886068EnsemblClinVar.	1
Natural variantⁱVAR_011225	264	G → R in APSX; adult type. Corresponds to variant dbSNP:rs104886069EnsemblClinVar.	1
Natural variantⁱVAR_001921	289	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886450EnsemblClinVar.	1
Natural variantⁱVAR_011226	292	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886073EnsemblClinVar.	1
Natural variantⁱVAR_001922	292	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886078EnsemblClinVar.	1
Natural variantⁱVAR_011227	295	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886079EnsemblClinVar.	1
Natural variantⁱVAR_011228	298	G → S in APSX. Corresponds to variant dbSNP:rs104886080EnsemblClinVar.	1
Natural variantⁱVAR_011229	319	G → R in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886085EnsemblClinVar.	1
Natural variantⁱVAR_001923	325	G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886091EnsemblClinVar.	1
Natural variantⁱVAR_001924	325	G → R in APSX; juvenile and adult types. 3 PublicationsCorresponds to variant dbSNP:rs104886088EnsemblClinVar.	1
Natural variantⁱVAR_007992	331	G → V in APSX. Corresponds to variant dbSNP:rs104886092EnsemblClinVar.	1
Natural variantⁱVAR_001926	365 – 367	Missing in APSX; juvenile type.	3
Natural variantⁱVAR_001925	365	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886096EnsemblClinVar.	1
Natural variantⁱVAR_001927	371	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886097EnsemblClinVar.	1
Natural variantⁱVAR_001928	374	G → A in APSX. Corresponds to variant dbSNP:rs104886108EnsemblClinVar.	1
Natural variantⁱVAR_001929	383	G → D in APSX; juvenile type. Corresponds to variant dbSNP:rs104886105EnsemblClinVar.	1
Natural variantⁱVAR_001930	400	G → E in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886107EnsemblClinVar.	1
Natural variantⁱVAR_001931	406	G → V in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886100EnsemblClinVar.	1
Natural variantⁱVAR_001932	409	G → D in APSX. Corresponds to variant dbSNP:rs104886101EnsemblClinVar.	1
Natural variantⁱVAR_011230	412	G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886102EnsemblClinVar.	1
Natural variantⁱVAR_011231	415	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886103EnsemblClinVar.	1
Natural variantⁱVAR_011232	420	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs281874663EnsemblClinVar.	1
Natural variantⁱVAR_011233	420	G → V in APSX. 1 Publication	1
Natural variantⁱVAR_011234	423	G → E in APSX. Corresponds to variant dbSNP:rs104886110EnsemblClinVar.	1
Natural variantⁱVAR_001935	456 – 458	Missing in APSX. 1 Publication	3
Natural variantⁱVAR_001936	466	G → E in APSX. Corresponds to variant dbSNP:rs104886114EnsemblClinVar.	1
Natural variantⁱVAR_007993	472	G → R in APSX. Corresponds to variant dbSNP:rs104886116EnsemblClinVar.	1
Natural variantⁱVAR_011235	491	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886117EnsemblClinVar.	1
Natural variantⁱVAR_001937	494	G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886118EnsemblClinVar.	1
Natural variantⁱVAR_001938	496 – 507	Missing in APSX; juvenile type. Add BLAST	12
Natural variantⁱVAR_011236	497	G → C in APSX; adult type. Corresponds to variant dbSNP:rs104886120EnsemblClinVar.	1
Natural variantⁱVAR_001939	521	G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886121EnsemblClinVar.	1
Natural variantⁱVAR_001940	521	G → S in APSX. Corresponds to variant dbSNP:rs104886121EnsemblClinVar.	1
Natural variantⁱVAR_011237	524	G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886119EnsemblClinVar.	1
Natural variantⁱVAR_007994	545	G → R in APSX. Corresponds to variant dbSNP:rs104886126EnsemblClinVar.	1
Natural variantⁱVAR_007995	545	G → V in APSX. Corresponds to variant dbSNP:rs104886127EnsemblClinVar.	1
Natural variantⁱVAR_011238	558	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886129EnsemblClinVar.	1
Natural variantⁱVAR_007996	561	G → R in APSX. Corresponds to variant dbSNP:rs104886136EnsemblClinVar.	1
Natural variantⁱVAR_001941	567	G → A in APSX; juvenile type. Corresponds to variant dbSNP:rs104886137EnsemblClinVar.	1
Natural variantⁱVAR_011239	573	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886138EnsemblClinVar.	1
Natural variantⁱVAR_011240	579	G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886130EnsemblClinVar.	1
Natural variantⁱVAR_007997	579	G → R in APSX; adult type. Corresponds to variant dbSNP:rs104886139EnsemblClinVar.	1
Natural variantⁱVAR_011241	603	G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886133EnsemblClinVar.	1
Natural variantⁱVAR_011242	609	G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886135EnsemblClinVar.	1
Natural variantⁱVAR_001942	609	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886140EnsemblClinVar.	1
Natural variantⁱVAR_011244	621	G → C in APSX. Corresponds to variant dbSNP:rs104886141EnsemblClinVar.	1
Natural variantⁱVAR_011245	624	G → D in APSX. 2 PublicationsCorresponds to variant dbSNP:rs104886142EnsemblClinVar.	1
Natural variantⁱVAR_011246	629	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886144EnsemblClinVar.	1
Natural variantⁱVAR_011247	632	G → D in APSX. Corresponds to variant dbSNP:rs104886145EnsemblClinVar.	1
Natural variantⁱVAR_011248	633	E → K in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886146EnsemblClinVar.	1
Natural variantⁱVAR_007998	635	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs281874683EnsemblClinVar.	1
Natural variantⁱVAR_001944	638	G → A in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.	1
Natural variantⁱVAR_007999	638	G → S in APSX; juvenile type. Corresponds to variant dbSNP:rs104886147EnsemblClinVar.	1
Natural variantⁱVAR_001943	638	G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.	1
Natural variantⁱVAR_001945	653	G → R in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886150EnsemblClinVar.	1
Natural variantⁱVAR_008000	669	G → A in APSX; juvenile type. Corresponds to variant dbSNP:rs104886151EnsemblClinVar.	1
Natural variantⁱVAR_011249	681	G → D in APSX. Corresponds to variant dbSNP:rs104886158EnsemblClinVar.	1
Natural variantⁱVAR_001947	684	G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886160EnsemblClinVar.	1
Natural variantⁱVAR_008001	687	G → E in APSX. Corresponds to variant dbSNP:rs104886168EnsemblClinVar.	1
Natural variantⁱVAR_011250	722	G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886163EnsemblClinVar.	1
Natural variantⁱVAR_011252	739	P → S in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886164EnsemblClinVar.	1
Natural variantⁱVAR_001948	740	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886165EnsemblClinVar.	1
Natural variantⁱVAR_008002	743	G → D in APSX. Corresponds to variant dbSNP:rs104886166EnsemblClinVar.	1
Natural variantⁱVAR_001949	772	G → D in APSX; juvenile type. Corresponds to variant dbSNP:rs104886173EnsemblClinVar.	1
Natural variantⁱVAR_001950	796	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886177EnsemblClinVar.	1
Natural variantⁱVAR_011254	802 – 807	Missing in APSX. 1 Publication	6
Natural variantⁱVAR_011253	802	G → R in APSX. Corresponds to variant dbSNP:rs104886179EnsemblClinVar.	1
Natural variantⁱVAR_008003	808	G → E in APSX; adult type. Corresponds to variant dbSNP:rs104886180EnsemblClinVar.	1
Natural variantⁱVAR_011255	811	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886183EnsemblClinVar.	1
Natural variantⁱVAR_008004	822 – 824	Missing in APSX.	3
Natural variantⁱVAR_011256	822	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886184EnsemblClinVar.	1
Natural variantⁱVAR_008005	852	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886187EnsemblClinVar.	1
Natural variantⁱVAR_001951	852	G → R in APSX. Corresponds to variant dbSNP:rs104886186EnsemblClinVar.	1
Natural variantⁱVAR_011257	864 – 875	Missing in APSX. 1 PublicationAdd BLAST	12
Natural variantⁱVAR_001952	866	G → E in APSX; adult type. Corresponds to variant dbSNP:rs104886188EnsemblClinVar.	1
Natural variantⁱVAR_001953	869	G → R in APSX; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs104886189EnsemblClinVar.	1
Natural variantⁱVAR_001954	872	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886190EnsemblClinVar.	1
Natural variantⁱVAR_008006	878	G → R in APSX.	1
Natural variantⁱVAR_011258	898	M → V in APSX; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs104886192EnsemblClinVar.	1
Natural variantⁱVAR_011259	902	G → V in APSX; juvenile type. 1 Publication	1
Natural variantⁱVAR_011260	911	G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886363EnsemblClinVar.	1
Natural variantⁱVAR_011261	941	G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886196EnsemblClinVar.	1
Natural variantⁱVAR_001955	942	Missing in APSX.	1
Natural variantⁱVAR_011262	947	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886370EnsemblClinVar.	1
Natural variantⁱVAR_011263	953	G → V in APSX; found on the same allele as variant Glu-1211. 1 PublicationCorresponds to variant dbSNP:rs78972735EnsemblClinVar.	1
Natural variantⁱVAR_008007	988 – 992	Missing in APSX; adult type.	5
Natural variantⁱVAR_011264	1006	G → A in APSX. 1 Publication	1
Natural variantⁱVAR_011265	1006	G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886202EnsemblClinVar.	1
Natural variantⁱVAR_011266	1015	G → E in APSX.	1
Natural variantⁱVAR_011267	1015	G → V in APSX. Corresponds to variant dbSNP:rs104886211EnsemblClinVar.	1
Natural variantⁱVAR_011268	1030	G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886210EnsemblClinVar.	1
Natural variantⁱVAR_011269	1036	G → V in APSX. Corresponds to variant dbSNP:rs104886212EnsemblClinVar.	1
Natural variantⁱVAR_011270	1039	G → S in APSX; juvenile type. Corresponds to variant dbSNP:rs104886214EnsemblClinVar.	1
Natural variantⁱVAR_011271	1045	G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886215EnsemblClinVar.	1
Natural variantⁱVAR_011272	1066	G → R in APSX. Corresponds to variant dbSNP:rs104886219EnsemblClinVar.	1
Natural variantⁱVAR_011273	1066	G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886219EnsemblClinVar.	1
Natural variantⁱVAR_011274	1086	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886232EnsemblClinVar.	1
Natural variantⁱVAR_001956	1104	G → V in APSX. Corresponds to variant dbSNP:rs104886224EnsemblClinVar.	1
Natural variantⁱVAR_008008	1107	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886225EnsemblClinVar.	1
Natural variantⁱVAR_001957	1143	G → D in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886229EnsemblClinVar.	1
Natural variantⁱVAR_001958	1143	G → S in APSX; adult type. Corresponds to variant dbSNP:rs104886228EnsemblClinVar.	1
Natural variantⁱVAR_011275	1158	G → R in APSX. 1 Publication	1
Natural variantⁱVAR_008009	1161	G → R in APSX. Corresponds to variant dbSNP:rs104886235EnsemblClinVar.	1
Natural variantⁱVAR_011276	1167	G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886236EnsemblClinVar.	1
Natural variantⁱVAR_011277	1170	G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886237EnsemblClinVar.	1
Natural variantⁱVAR_001959	1182	G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886242EnsemblClinVar.	1
Natural variantⁱVAR_011278	1196	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886244EnsemblClinVar.	1
Natural variantⁱVAR_011279	1205	G → C in APSX; juvenile type. Corresponds to variant dbSNP:rs104886245EnsemblClinVar.	1
Natural variantⁱVAR_011280	1211	G → E in APSX; found on the same allele as variant Val-953. Corresponds to variant dbSNP:rs104886247EnsemblClinVar.	1
Natural variantⁱVAR_008010	1211	G → R in APSX. Corresponds to variant dbSNP:rs104886246EnsemblClinVar.	1
Natural variantⁱVAR_008011	1220	G → D in APSX. Corresponds to variant dbSNP:rs104886251EnsemblClinVar.	1
Natural variantⁱVAR_011281	1229	G → D in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886253EnsemblClinVar.	1
Natural variantⁱVAR_001960	1241	G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886255EnsemblClinVar.	1
Natural variantⁱVAR_011282	1244	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886261EnsemblClinVar.	1
Natural variantⁱVAR_011283	1252	G → S in APSX; adult type. Corresponds to variant dbSNP:rs104886262EnsemblClinVar.	1
Natural variantⁱVAR_011284	1261	G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886264EnsemblClinVar.	1
Natural variantⁱVAR_001961	1270	G → S in APSX. Corresponds to variant dbSNP:rs104886257EnsemblClinVar.	1
Natural variantⁱVAR_008012	1333	G → S in APSX. Corresponds to variant dbSNP:rs104886266EnsemblClinVar.	1
Natural variantⁱVAR_011285	1357	G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886267EnsemblClinVar.	1
Natural variantⁱVAR_001962	1379	G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886269EnsemblClinVar.	1
Natural variantⁱVAR_001963	1410	R → C in APSX; adult and juvenile types. 1 PublicationCorresponds to variant dbSNP:rs104886270EnsemblClinVar.	1
Natural variantⁱVAR_001964	1421	G → W in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886272EnsemblClinVar.	1
Natural variantⁱVAR_001965	1422	R → C in APSX; juvenile type. Corresponds to variant dbSNP:rs144282156EnsemblClinVar.	1
Natural variantⁱVAR_008013	1427	G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886274EnsemblClinVar.	1
Natural variantⁱVAR_008014	1442	G → D in APSX. Corresponds to variant dbSNP:rs104886277EnsemblClinVar.	1
Natural variantⁱVAR_001966	1451	G → S in APSX. Corresponds to variant dbSNP:rs104886280EnsemblClinVar.	1
Natural variantⁱVAR_008015	1486	G → A in APSX; adult type. Corresponds to variant dbSNP:rs104886282EnsemblClinVar.	1
Natural variantⁱVAR_011287	1488	S → F in APSX. Corresponds to variant dbSNP:rs104886283EnsemblClinVar.	1
Natural variantⁱVAR_001967	1498	A → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886284EnsemblClinVar.	1
Natural variantⁱVAR_011288	1511	R → H in APSX; juvenile type; could be a non pathogenic variant. 1 PublicationCorresponds to variant dbSNP:rs104886285EnsemblClinVar.	1
Natural variantⁱVAR_001968	1517	P → T in APSX; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs201220208EnsemblClinVar.	1
Natural variantⁱVAR_001969	1538	W → S in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886293EnsemblClinVar.	1
Natural variantⁱVAR_001970	1563	R → Q in APSX. 1 PublicationCorresponds to variant dbSNP:rs281874743EnsemblClinVar.	1
Natural variantⁱVAR_001971	1564	C → S in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886287EnsemblClinVar.	1
Natural variantⁱVAR_011289	1567	C → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886288EnsemblClinVar.	1
Natural variantⁱVAR_001972	1596	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886297EnsemblClinVar.	1
Natural variantⁱVAR_019594	1597 – 1685	Missing in APSX. 1 PublicationAdd BLAST	89
Natural variantⁱVAR_001973	1649	L → R in APSX; adult type. 3 PublicationsCorresponds to variant dbSNP:rs104886303EnsemblClinVar.	1
Natural variantⁱVAR_011290	1677	R → P in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar.	1
Natural variantⁱVAR_001974	1677	R → Q in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar.	1
Natural variantⁱVAR_011291	1678	C → W in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886311EnsemblClinVar.	1
Natural variantⁱVAR_019595	1679 – 1685	Missing in APSX.	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 mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	1287
GeneReviewsⁱ	COL4A5
MalaCards human disease database More...MalaCardsⁱ	COL4A5
MIMⁱ	301050 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000188153
Orphanetⁱ	88917 X-linked Alport syndrome 1018 X-linked diffuse leiomyomatosis - Alport syndrome
PharmGKBⁱ	PA26722

Chemistry databases

ChEMBLⁱ	CHEMBL2364188

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	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, Hydroxylation

Proteomic databases

EPDⁱ	P29400
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P29400
PaxDbⁱ	P29400
PeptideAtlas More...PeptideAtlasⁱ	P29400
PRIDEⁱ	P29400
ProteomicsDBⁱ	54566 54567 [P29400-2]

PTM databases

iPTMnetⁱ	P29400
PhosphoSitePlusⁱ	P29400

Expressionⁱ

Tissue specificityⁱ

Isoform 2 is found in kidney.

Gene expression databases

Bgeeⁱ	ENSG00000188153
CleanExⁱ	HS_COL4A5
ExpressionAtlasⁱ	P29400 baseline and differential
Genevisibleⁱ	P29400 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA065449

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, 41 interactors
Molecular INTeraction database More...MINTⁱ	P29400
STRINGⁱ	9606.ENSP00000331902

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P29400
SMRⁱ	P29400
ModBaseⁱ	Search...
MobiDBⁱ	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, Signal

Phylogenomic databases

Ensembl GeneTree More...GeneTreeⁱ	ENSGT00900000140804
HOGENOMⁱ	HOG000085652
HOVERGENⁱ	HBG004933
InParanoidⁱ	P29400
KEGG Orthology (KO) More...KOⁱ	K06237
OMAⁱ	HCPQGWD
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0613
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
Pfam protein domain database More...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

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: P29400-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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

Length:1,685

Mass (Da):161,044

Last modified:February 1, 1994 - v2

Checksum:ⁱ4450A6762F12A626

Isoform 2 (identifier: P29400-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1264-1264: G → GPTGFQG

« Hide

        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 GRPGPTGFQG LPGPEGPPGL PGNGGIKGEK GNPGQPGLPG 
      1310       1320       1330       1340       1350
LPGLKGDQGP PGLQGNPGRP GLNGMKGDPG LPGVPGFPGM KGPSGVPGSA 
      1360       1370       1380       1390       1400
GPEGEPGLIG PPGPPGLPGP SGQSIIIKGD AGPPGIPGQP GLKGLPGPQG 
      1410       1420       1430       1440       1450
PQGLPGPTGP PGDPGRNGLP GFDGAGGRKG DPGLPGQPGT RGLDGPPGPD 
      1460       1470       1480       1490       1500
GLQGPPGPPG TSSVAHGFLI TRHSQTTDAP QCPQGTLQVY EGFSLLYVQG 
      1510       1520       1530       1540       1550
NKRAHGQDLG TAGSCLRRFS TMPFMFCNIN NVCNFASRND YSYWLSTPEP 
      1560       1570       1580       1590       1600
MPMSMQPLKG QSIQPFISRC AVCEAPAVVI AVHSQTIQIP HCPQGWDSLW 
      1610       1620       1630       1640       1650
IGYSFMMHTS AGAEGSGQAL ASPGSCLEEF RSAPFIECHG RGTCNYYANS 
      1660       1670       1680       1690 
YSFWLATVDV SDMFSKPQSE TLKAGDLRTR ISRCQVCMKR T

Note: Contains 2 extra G-X-X repeats into the triple-helix domain.

Show »

Length:1,691

Mass (Da):161,632

Checksum:ⁱE45612A1C153D123

Experimental Info

Feature key	Position(s)	DescriptionActions	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	Length
Natural variantⁱVAR_001914	54	G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886043EnsemblClinVar.	1
Natural variantⁱVAR_007991	114	G → S in APSX.	1
Natural variantⁱVAR_071932	123	G → E in APSX. 1 Publication	1
Natural variantⁱVAR_001915	129	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.	1
Natural variantⁱVAR_001916	129	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.	1
Natural variantⁱVAR_001917	174	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886055EnsemblClinVar.	1
Natural variantⁱVAR_011220	177	G → C in APSX; presenting with dot-and-fleck retinopathy. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.	1
Natural variantⁱVAR_001918	177	G → R in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.	1
Natural variantⁱVAR_011221	192	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886060EnsemblClinVar.	1
Natural variantⁱVAR_011222	204	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886063EnsemblClinVar.	1
Natural variantⁱVAR_001919	216	G → R in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886067EnsemblClinVar.	1
Natural variantⁱVAR_001920	219	G → S in APSX. Corresponds to variant dbSNP:rs104886075EnsemblClinVar.	1
Natural variantⁱVAR_011223	230	G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886076EnsemblClinVar.	1
Natural variantⁱVAR_011224	239	G → E in APSX. Corresponds to variant dbSNP:rs104886068EnsemblClinVar.	1
Natural variantⁱVAR_011225	264	G → R in APSX; adult type. Corresponds to variant dbSNP:rs104886069EnsemblClinVar.	1
Natural variantⁱVAR_001921	289	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886450EnsemblClinVar.	1
Natural variantⁱVAR_011226	292	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886073EnsemblClinVar.	1
Natural variantⁱVAR_001922	292	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886078EnsemblClinVar.	1
Natural variantⁱVAR_011227	295	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886079EnsemblClinVar.	1
Natural variantⁱVAR_011228	298	G → S in APSX. Corresponds to variant dbSNP:rs104886080EnsemblClinVar.	1
Natural variantⁱVAR_011229	319	G → R in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886085EnsemblClinVar.	1
Natural variantⁱVAR_001923	325	G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886091EnsemblClinVar.	1
Natural variantⁱVAR_001924	325	G → R in APSX; juvenile and adult types. 3 PublicationsCorresponds to variant dbSNP:rs104886088EnsemblClinVar.	1
Natural variantⁱVAR_007992	331	G → V in APSX. Corresponds to variant dbSNP:rs104886092EnsemblClinVar.	1
Natural variantⁱVAR_001926	365 – 367	Missing in APSX; juvenile type.	3
Natural variantⁱVAR_001925	365	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886096EnsemblClinVar.	1
Natural variantⁱVAR_001927	371	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886097EnsemblClinVar.	1
Natural variantⁱVAR_001928	374	G → A in APSX. Corresponds to variant dbSNP:rs104886108EnsemblClinVar.	1
Natural variantⁱVAR_001929	383	G → D in APSX; juvenile type. Corresponds to variant dbSNP:rs104886105EnsemblClinVar.	1
Natural variantⁱVAR_001930	400	G → E in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886107EnsemblClinVar.	1
Natural variantⁱVAR_001931	406	G → V in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886100EnsemblClinVar.	1
Natural variantⁱVAR_001932	409	G → D in APSX. Corresponds to variant dbSNP:rs104886101EnsemblClinVar.	1
Natural variantⁱVAR_011230	412	G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886102EnsemblClinVar.	1
Natural variantⁱVAR_011231	415	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886103EnsemblClinVar.	1
Natural variantⁱVAR_011232	420	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs281874663EnsemblClinVar.	1
Natural variantⁱVAR_011233	420	G → V in APSX. 1 Publication	1
Natural variantⁱVAR_011234	423	G → E in APSX. 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 APSX. 1 Publication	3
Natural variantⁱVAR_001936	466	G → E in APSX. Corresponds to variant dbSNP:rs104886114EnsemblClinVar.	1
Natural variantⁱVAR_007993	472	G → R in APSX. Corresponds to variant dbSNP:rs104886116EnsemblClinVar.	1
Natural variantⁱVAR_011235	491	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886117EnsemblClinVar.	1
Natural variantⁱVAR_001937	494	G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886118EnsemblClinVar.	1
Natural variantⁱVAR_001938	496 – 507	Missing in APSX; juvenile type. Add BLAST	12
Natural variantⁱVAR_011236	497	G → C in APSX; adult type. Corresponds to variant dbSNP:rs104886120EnsemblClinVar.	1
Natural variantⁱVAR_001939	521	G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886121EnsemblClinVar.	1
Natural variantⁱVAR_001940	521	G → S in APSX. Corresponds to variant dbSNP:rs104886121EnsemblClinVar.	1
Natural variantⁱVAR_011237	524	G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886119EnsemblClinVar.	1
Natural variantⁱVAR_007994	545	G → R in APSX. Corresponds to variant dbSNP:rs104886126EnsemblClinVar.	1
Natural variantⁱVAR_007995	545	G → V in APSX. Corresponds to variant dbSNP:rs104886127EnsemblClinVar.	1
Natural variantⁱVAR_011238	558	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886129EnsemblClinVar.	1
Natural variantⁱVAR_007996	561	G → R in APSX. Corresponds to variant dbSNP:rs104886136EnsemblClinVar.	1
Natural variantⁱVAR_001941	567	G → A in APSX; juvenile type. Corresponds to variant dbSNP:rs104886137EnsemblClinVar.	1
Natural variantⁱVAR_011239	573	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886138EnsemblClinVar.	1
Natural variantⁱVAR_011240	579	G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886130EnsemblClinVar.	1
Natural variantⁱVAR_007997	579	G → R in APSX; adult type. Corresponds to variant dbSNP:rs104886139EnsemblClinVar.	1
Natural variantⁱVAR_011241	603	G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886133EnsemblClinVar.	1
Natural variantⁱVAR_011242	609	G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886135EnsemblClinVar.	1
Natural variantⁱVAR_001942	609	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886140EnsemblClinVar.	1
Natural variantⁱVAR_011243	619	P → S1 Publication	1
Natural variantⁱVAR_011244	621	G → C in APSX. Corresponds to variant dbSNP:rs104886141EnsemblClinVar.	1
Natural variantⁱVAR_011245	624	G → D in APSX. 2 PublicationsCorresponds to variant dbSNP:rs104886142EnsemblClinVar.	1
Natural variantⁱVAR_011246	629	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886144EnsemblClinVar.	1
Natural variantⁱVAR_011247	632	G → D in APSX. Corresponds to variant dbSNP:rs104886145EnsemblClinVar.	1
Natural variantⁱVAR_011248	633	E → K in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886146EnsemblClinVar.	1
Natural variantⁱVAR_007998	635	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs281874683EnsemblClinVar.	1
Natural variantⁱVAR_001944	638	G → A in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.	1
Natural variantⁱVAR_007999	638	G → S in APSX; juvenile type. Corresponds to variant dbSNP:rs104886147EnsemblClinVar.	1
Natural variantⁱVAR_001943	638	G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.	1
Natural variantⁱVAR_001945	653	G → R in APSX; 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 APSX; juvenile type. Corresponds to variant dbSNP:rs104886151EnsemblClinVar.	1
Natural variantⁱVAR_011249	681	G → D in APSX. Corresponds to variant dbSNP:rs104886158EnsemblClinVar.	1
Natural variantⁱVAR_001947	684	G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886160EnsemblClinVar.	1
Natural variantⁱVAR_008001	687	G → E in APSX. Corresponds to variant dbSNP:rs104886168EnsemblClinVar.	1
Natural variantⁱVAR_011250	722	G → E in APSX. 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 APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886164EnsemblClinVar.	1
Natural variantⁱVAR_001948	740	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886165EnsemblClinVar.	1
Natural variantⁱVAR_008002	743	G → D in APSX. Corresponds to variant dbSNP:rs104886166EnsemblClinVar.	1
Natural variantⁱVAR_001949	772	G → D in APSX; juvenile type. Corresponds to variant dbSNP:rs104886173EnsemblClinVar.	1
Natural variantⁱVAR_001950	796	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886177EnsemblClinVar.	1
Natural variantⁱVAR_011254	802 – 807	Missing in APSX. 1 Publication	6
Natural variantⁱVAR_011253	802	G → R in APSX. Corresponds to variant dbSNP:rs104886179EnsemblClinVar.	1
Natural variantⁱVAR_008003	808	G → E in APSX; adult type. Corresponds to variant dbSNP:rs104886180EnsemblClinVar.	1
Natural variantⁱVAR_011255	811	G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886183EnsemblClinVar.	1
Natural variantⁱVAR_008004	822 – 824	Missing in APSX.	3
Natural variantⁱVAR_011256	822	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886184EnsemblClinVar.	1
Natural variantⁱVAR_008005	852	G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886187EnsemblClinVar.	1
Natural variantⁱVAR_001951	852	G → R in APSX. Corresponds to variant dbSNP:rs104886186EnsemblClinVar.	1
Natural variantⁱVAR_011257	864 – 875	Missing in APSX. 1 PublicationAdd BLAST	12
Natural variantⁱVAR_001952	866	G → E in APSX; adult type. Corresponds to variant dbSNP:rs104886188EnsemblClinVar.	1
Natural variantⁱVAR_001953	869	G → R in APSX; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs104886189EnsemblClinVar.	1
Natural variantⁱVAR_001954	872	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886190EnsemblClinVar.	1
Natural variantⁱVAR_008006	878	G → R in APSX.	1
Natural variantⁱVAR_011258	898	M → V in APSX; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs104886192EnsemblClinVar.	1
Natural variantⁱVAR_011259	902	G → V in APSX; juvenile type. 1 Publication	1
Natural variantⁱVAR_011260	911	G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886363EnsemblClinVar.	1
Natural variantⁱVAR_011261	941	G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886196EnsemblClinVar.	1
Natural variantⁱVAR_001955	942	Missing in APSX.	1
Natural variantⁱVAR_011262	947	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886370EnsemblClinVar.	1
Natural variantⁱVAR_011263	953	G → V in APSX; found on the same allele as variant Glu-1211. 1 PublicationCorresponds to variant dbSNP:rs78972735EnsemblClinVar.	1
Natural variantⁱVAR_008007	988 – 992	Missing in APSX; adult type.	5
Natural variantⁱVAR_011264	1006	G → A in APSX. 1 Publication	1
Natural variantⁱVAR_011265	1006	G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886202EnsemblClinVar.	1
Natural variantⁱVAR_011266	1015	G → E in APSX.	1
Natural variantⁱVAR_011267	1015	G → V in APSX. Corresponds to variant dbSNP:rs104886211EnsemblClinVar.	1
Natural variantⁱVAR_011268	1030	G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886210EnsemblClinVar.	1
Natural variantⁱVAR_011269	1036	G → V in APSX. Corresponds to variant dbSNP:rs104886212EnsemblClinVar.	1
Natural variantⁱVAR_011270	1039	G → S in APSX; juvenile type. Corresponds to variant dbSNP:rs104886214EnsemblClinVar.	1
Natural variantⁱVAR_011271	1045	G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886215EnsemblClinVar.	1
Natural variantⁱVAR_011272	1066	G → R in APSX. Corresponds to variant dbSNP:rs104886219EnsemblClinVar.	1
Natural variantⁱVAR_011273	1066	G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886219EnsemblClinVar.	1
Natural variantⁱVAR_011274	1086	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886232EnsemblClinVar.	1
Natural variantⁱVAR_001956	1104	G → V in APSX. Corresponds to variant dbSNP:rs104886224EnsemblClinVar.	1
Natural variantⁱVAR_008008	1107	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886225EnsemblClinVar.	1
Natural variantⁱVAR_001957	1143	G → D in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886229EnsemblClinVar.	1
Natural variantⁱVAR_001958	1143	G → S in APSX; adult type. Corresponds to variant dbSNP:rs104886228EnsemblClinVar.	1
Natural variantⁱVAR_011275	1158	G → R in APSX. 1 Publication	1
Natural variantⁱVAR_008009	1161	G → R in APSX. Corresponds to variant dbSNP:rs104886235EnsemblClinVar.	1
Natural variantⁱVAR_011276	1167	G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886236EnsemblClinVar.	1
Natural variantⁱVAR_011277	1170	G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886237EnsemblClinVar.	1
Natural variantⁱVAR_001959	1182	G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886242EnsemblClinVar.	1
Natural variantⁱVAR_011278	1196	G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886244EnsemblClinVar.	1
Natural variantⁱVAR_011279	1205	G → C in APSX; juvenile type. Corresponds to variant dbSNP:rs104886245EnsemblClinVar.	1
Natural variantⁱVAR_011280	1211	G → E in APSX; found on the same allele as variant Val-953. Corresponds to variant dbSNP:rs104886247EnsemblClinVar.	1
Natural variantⁱVAR_008010	1211	G → R in APSX. Corresponds to variant dbSNP:rs104886246EnsemblClinVar.	1
Natural variantⁱVAR_008011	1220	G → D in APSX. Corresponds to variant dbSNP:rs104886251EnsemblClinVar.	1
Natural variantⁱVAR_011281	1229	G → D in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886253EnsemblClinVar.	1
Natural variantⁱVAR_001960	1241	G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886255EnsemblClinVar.	1
Natural variantⁱVAR_011282	1244	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886261EnsemblClinVar.	1
Natural variantⁱVAR_011283	1252	G → S in APSX; adult type. Corresponds to variant dbSNP:rs104886262EnsemblClinVar.	1
Natural variantⁱVAR_011284	1261	G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886264EnsemblClinVar.	1
Natural variantⁱVAR_001961	1270	G → S in APSX. Corresponds to variant dbSNP:rs104886257EnsemblClinVar.	1
Natural variantⁱVAR_008012	1333	G → S in APSX. Corresponds to variant dbSNP:rs104886266EnsemblClinVar.	1
Natural variantⁱVAR_011285	1357	G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886267EnsemblClinVar.	1
Natural variantⁱVAR_001962	1379	G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886269EnsemblClinVar.	1
Natural variantⁱVAR_001963	1410	R → C in APSX; adult and juvenile types. 1 PublicationCorresponds to variant dbSNP:rs104886270EnsemblClinVar.	1
Natural variantⁱVAR_001964	1421	G → W in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886272EnsemblClinVar.	1
Natural variantⁱVAR_001965	1422	R → C in APSX; juvenile type. Corresponds to variant dbSNP:rs144282156EnsemblClinVar.	1
Natural variantⁱVAR_008013	1427	G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886274EnsemblClinVar.	1
Natural variantⁱVAR_011286	1428	L → M1 Publication	1
Natural variantⁱVAR_008014	1442	G → D in APSX. Corresponds to variant dbSNP:rs104886277EnsemblClinVar.	1
Natural variantⁱVAR_001966	1451	G → S in APSX. Corresponds to variant dbSNP:rs104886280EnsemblClinVar.	1
Natural variantⁱVAR_008015	1486	G → A in APSX; adult type. Corresponds to variant dbSNP:rs104886282EnsemblClinVar.	1
Natural variantⁱVAR_011287	1488	S → F in APSX. Corresponds to variant dbSNP:rs104886283EnsemblClinVar.	1
Natural variantⁱVAR_001967	1498	A → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886284EnsemblClinVar.	1
Natural variantⁱVAR_011288	1511	R → H in APSX; juvenile type; could be a non pathogenic variant. 1 PublicationCorresponds to variant dbSNP:rs104886285EnsemblClinVar.	1
Natural variantⁱVAR_001968	1517	P → T in APSX; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs201220208EnsemblClinVar.	1
Natural variantⁱVAR_001969	1538	W → S in APSX; 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 APSX. 1 PublicationCorresponds to variant dbSNP:rs281874743EnsemblClinVar.	1
Natural variantⁱVAR_001971	1564	C → S in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886287EnsemblClinVar.	1
Natural variantⁱVAR_011289	1567	C → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886288EnsemblClinVar.	1
Natural variantⁱVAR_001972	1596	G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886297EnsemblClinVar.	1
Natural variantⁱVAR_019594	1597 – 1685	Missing in APSX. 1 PublicationAdd BLAST	89
Natural variantⁱVAR_001973	1649	L → R in APSX; adult type. 3 PublicationsCorresponds to variant dbSNP:rs104886303EnsemblClinVar.	1
Natural variantⁱVAR_011290

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UniProtKB - P29400 (CO4A5_HUMAN)

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Collagen alpha-5(IV) chain

COL4A5

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