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UniProtKB - P29400 (CO4A5_HUMAN)

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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

ReactomeiR-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
SIGNORiP29400

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-5(IV) chain
Gene namesi
Name:COL4A5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000188153.12
HGNCiHGNC:2207 COL4A5
MIMi303630 gene
neXtProtiNX_P29400

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00191454G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886043EnsemblClinVar.1
Natural variantiVAR_007991114G → S in APSX. 1
Natural variantiVAR_071932123G → E in APSX. 1 Publication1
Natural variantiVAR_001915129G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.1
Natural variantiVAR_001916129G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.1
Natural variantiVAR_001917174G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886055EnsemblClinVar.1
Natural variantiVAR_011220177G → C in APSX; presenting with dot-and-fleck retinopathy. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.1
Natural variantiVAR_001918177G → R in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.1
Natural variantiVAR_011221192G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886060EnsemblClinVar.1
Natural variantiVAR_011222204G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886063EnsemblClinVar.1
Natural variantiVAR_001919216G → R in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886067EnsemblClinVar.1
Natural variantiVAR_001920219G → S in APSX. Corresponds to variant dbSNP:rs104886075EnsemblClinVar.1
Natural variantiVAR_011223230G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886076EnsemblClinVar.1
Natural variantiVAR_011224239G → E in APSX. Corresponds to variant dbSNP:rs104886068EnsemblClinVar.1
Natural variantiVAR_011225264G → R in APSX; adult type. Corresponds to variant dbSNP:rs104886069EnsemblClinVar.1
Natural variantiVAR_001921289G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886450EnsemblClinVar.1
Natural variantiVAR_011226292G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886073EnsemblClinVar.1
Natural variantiVAR_001922292G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886078EnsemblClinVar.1
Natural variantiVAR_011227295G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886079EnsemblClinVar.1
Natural variantiVAR_011228298G → S in APSX. Corresponds to variant dbSNP:rs104886080EnsemblClinVar.1
Natural variantiVAR_011229319G → R in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886085EnsemblClinVar.1
Natural variantiVAR_001923325G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886091EnsemblClinVar.1
Natural variantiVAR_001924325G → R in APSX; juvenile and adult types. 3 PublicationsCorresponds to variant dbSNP:rs104886088EnsemblClinVar.1
Natural variantiVAR_007992331G → V in APSX. Corresponds to variant dbSNP:rs104886092EnsemblClinVar.1
Natural variantiVAR_001926365 – 367Missing in APSX; juvenile type. 3
Natural variantiVAR_001925365G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886096EnsemblClinVar.1
Natural variantiVAR_001927371G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886097EnsemblClinVar.1
Natural variantiVAR_001928374G → A in APSX. Corresponds to variant dbSNP:rs104886108EnsemblClinVar.1
Natural variantiVAR_001929383G → D in APSX; juvenile type. Corresponds to variant dbSNP:rs104886105EnsemblClinVar.1
Natural variantiVAR_001930400G → E in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886107EnsemblClinVar.1
Natural variantiVAR_001931406G → V in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886100EnsemblClinVar.1
Natural variantiVAR_001932409G → D in APSX. Corresponds to variant dbSNP:rs104886101EnsemblClinVar.1
Natural variantiVAR_011230412G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886102EnsemblClinVar.1
Natural variantiVAR_011231415G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886103EnsemblClinVar.1
Natural variantiVAR_011232420G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs281874663EnsemblClinVar.1
Natural variantiVAR_011233420G → V in APSX. 1 Publication1
Natural variantiVAR_011234423G → E in APSX. Corresponds to variant dbSNP:rs104886110EnsemblClinVar.1
Natural variantiVAR_001935456 – 458Missing in APSX. 1 Publication3
Natural variantiVAR_001936466G → E in APSX. Corresponds to variant dbSNP:rs104886114EnsemblClinVar.1
Natural variantiVAR_007993472G → R in APSX. Corresponds to variant dbSNP:rs104886116EnsemblClinVar.1
Natural variantiVAR_011235491G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886117EnsemblClinVar.1
Natural variantiVAR_001937494G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886118EnsemblClinVar.1
Natural variantiVAR_001938496 – 507Missing in APSX; juvenile type. Add BLAST12
Natural variantiVAR_011236497G → C in APSX; adult type. Corresponds to variant dbSNP:rs104886120EnsemblClinVar.1
Natural variantiVAR_001939521G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886121EnsemblClinVar.1
Natural variantiVAR_001940521G → S in APSX. Corresponds to variant dbSNP:rs104886121EnsemblClinVar.1
Natural variantiVAR_011237524G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886119EnsemblClinVar.1
Natural variantiVAR_007994545G → R in APSX. Corresponds to variant dbSNP:rs104886126EnsemblClinVar.1
Natural variantiVAR_007995545G → V in APSX. Corresponds to variant dbSNP:rs104886127EnsemblClinVar.1
Natural variantiVAR_011238558G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886129EnsemblClinVar.1
Natural variantiVAR_007996561G → R in APSX. Corresponds to variant dbSNP:rs104886136EnsemblClinVar.1
Natural variantiVAR_001941567G → A in APSX; juvenile type. Corresponds to variant dbSNP:rs104886137EnsemblClinVar.1
Natural variantiVAR_011239573G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886138EnsemblClinVar.1
Natural variantiVAR_011240579G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886130EnsemblClinVar.1
Natural variantiVAR_007997579G → R in APSX; adult type. Corresponds to variant dbSNP:rs104886139EnsemblClinVar.1
Natural variantiVAR_011241603G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886133EnsemblClinVar.1
Natural variantiVAR_011242609G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886135EnsemblClinVar.1
Natural variantiVAR_001942609G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886140EnsemblClinVar.1
Natural variantiVAR_011244621G → C in APSX. Corresponds to variant dbSNP:rs104886141EnsemblClinVar.1
Natural variantiVAR_011245624G → D in APSX. 2 PublicationsCorresponds to variant dbSNP:rs104886142EnsemblClinVar.1
Natural variantiVAR_011246629G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886144EnsemblClinVar.1
Natural variantiVAR_011247632G → D in APSX. Corresponds to variant dbSNP:rs104886145EnsemblClinVar.1
Natural variantiVAR_011248633E → K in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886146EnsemblClinVar.1
Natural variantiVAR_007998635G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs281874683EnsemblClinVar.1
Natural variantiVAR_001944638G → A in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.1
Natural variantiVAR_007999638G → S in APSX; juvenile type. Corresponds to variant dbSNP:rs104886147EnsemblClinVar.1
Natural variantiVAR_001943638G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.1
Natural variantiVAR_001945653G → R in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886150EnsemblClinVar.1
Natural variantiVAR_008000669G → A in APSX; juvenile type. Corresponds to variant dbSNP:rs104886151EnsemblClinVar.1
Natural variantiVAR_011249681G → D in APSX. Corresponds to variant dbSNP:rs104886158EnsemblClinVar.1
Natural variantiVAR_001947684G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886160EnsemblClinVar.1
Natural variantiVAR_008001687G → E in APSX. Corresponds to variant dbSNP:rs104886168EnsemblClinVar.1
Natural variantiVAR_011250722G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886163EnsemblClinVar.1
Natural variantiVAR_011252739P → S in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886164EnsemblClinVar.1
Natural variantiVAR_001948740G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886165EnsemblClinVar.1
Natural variantiVAR_008002743G → D in APSX. Corresponds to variant dbSNP:rs104886166EnsemblClinVar.1
Natural variantiVAR_001949772G → D in APSX; juvenile type. Corresponds to variant dbSNP:rs104886173EnsemblClinVar.1
Natural variantiVAR_001950796G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886177EnsemblClinVar.1
Natural variantiVAR_011254802 – 807Missing in APSX. 1 Publication6
Natural variantiVAR_011253802G → R in APSX. Corresponds to variant dbSNP:rs104886179EnsemblClinVar.1
Natural variantiVAR_008003808G → E in APSX; adult type. Corresponds to variant dbSNP:rs104886180EnsemblClinVar.1
Natural variantiVAR_011255811G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886183EnsemblClinVar.1
Natural variantiVAR_008004822 – 824Missing in APSX. 3
Natural variantiVAR_011256822G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886184EnsemblClinVar.1
Natural variantiVAR_008005852G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886187EnsemblClinVar.1
Natural variantiVAR_001951852G → R in APSX. Corresponds to variant dbSNP:rs104886186EnsemblClinVar.1
Natural variantiVAR_011257864 – 875Missing in APSX. 1 PublicationAdd BLAST12
Natural variantiVAR_001952866G → E in APSX; adult type. Corresponds to variant dbSNP:rs104886188EnsemblClinVar.1
Natural variantiVAR_001953869G → R in APSX; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs104886189EnsemblClinVar.1
Natural variantiVAR_001954872G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886190EnsemblClinVar.1
Natural variantiVAR_008006878G → R in APSX. 1
Natural variantiVAR_011258898M → V in APSX; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs104886192EnsemblClinVar.1
Natural variantiVAR_011259902G → V in APSX; juvenile type. 1 Publication1
Natural variantiVAR_011260911G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886363EnsemblClinVar.1
Natural variantiVAR_011261941G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886196EnsemblClinVar.1
Natural variantiVAR_001955942Missing in APSX. 1
Natural variantiVAR_011262947G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886370EnsemblClinVar.1
Natural variantiVAR_011263953G → V in APSX; found on the same allele as variant Glu-1211. 1 PublicationCorresponds to variant dbSNP:rs78972735EnsemblClinVar.1
Natural variantiVAR_008007988 – 992Missing in APSX; adult type. 5
Natural variantiVAR_0112641006G → A in APSX. 1 Publication1
Natural variantiVAR_0112651006G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886202EnsemblClinVar.1
Natural variantiVAR_0112661015G → E in APSX. 1
Natural variantiVAR_0112671015G → V in APSX. Corresponds to variant dbSNP:rs104886211EnsemblClinVar.1
Natural variantiVAR_0112681030G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886210EnsemblClinVar.1
Natural variantiVAR_0112691036G → V in APSX. Corresponds to variant dbSNP:rs104886212EnsemblClinVar.1
Natural variantiVAR_0112701039G → S in APSX; juvenile type. Corresponds to variant dbSNP:rs104886214EnsemblClinVar.1
Natural variantiVAR_0112711045G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886215EnsemblClinVar.1
Natural variantiVAR_0112721066G → R in APSX. Corresponds to variant dbSNP:rs104886219EnsemblClinVar.1
Natural variantiVAR_0112731066G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886219EnsemblClinVar.1
Natural variantiVAR_0112741086G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886232EnsemblClinVar.1
Natural variantiVAR_0019561104G → V in APSX. Corresponds to variant dbSNP:rs104886224EnsemblClinVar.1
Natural variantiVAR_0080081107G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886225EnsemblClinVar.1
Natural variantiVAR_0019571143G → D in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886229EnsemblClinVar.1
Natural variantiVAR_0019581143G → S in APSX; adult type. Corresponds to variant dbSNP:rs104886228EnsemblClinVar.1
Natural variantiVAR_0112751158G → R in APSX. 1 Publication1
Natural variantiVAR_0080091161G → R in APSX. Corresponds to variant dbSNP:rs104886235EnsemblClinVar.1
Natural variantiVAR_0112761167G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886236EnsemblClinVar.1
Natural variantiVAR_0112771170G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886237EnsemblClinVar.1
Natural variantiVAR_0019591182G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886242EnsemblClinVar.1
Natural variantiVAR_0112781196G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886244EnsemblClinVar.1
Natural variantiVAR_0112791205G → C in APSX; juvenile type. Corresponds to variant dbSNP:rs104886245EnsemblClinVar.1
Natural variantiVAR_0112801211G → E in APSX; found on the same allele as variant Val-953. Corresponds to variant dbSNP:rs104886247EnsemblClinVar.1
Natural variantiVAR_0080101211G → R in APSX. Corresponds to variant dbSNP:rs104886246EnsemblClinVar.1
Natural variantiVAR_0080111220G → D in APSX. Corresponds to variant dbSNP:rs104886251EnsemblClinVar.1
Natural variantiVAR_0112811229G → D in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886253EnsemblClinVar.1
Natural variantiVAR_0019601241G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886255EnsemblClinVar.1
Natural variantiVAR_0112821244G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886261EnsemblClinVar.1
Natural variantiVAR_0112831252G → S in APSX; adult type. Corresponds to variant dbSNP:rs104886262EnsemblClinVar.1
Natural variantiVAR_0112841261G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886264EnsemblClinVar.1
Natural variantiVAR_0019611270G → S in APSX. Corresponds to variant dbSNP:rs104886257EnsemblClinVar.1
Natural variantiVAR_0080121333G → S in APSX. Corresponds to variant dbSNP:rs104886266EnsemblClinVar.1
Natural variantiVAR_0112851357G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886267EnsemblClinVar.1
Natural variantiVAR_0019621379G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886269EnsemblClinVar.1
Natural variantiVAR_0019631410R → C in APSX; adult and juvenile types. 1 PublicationCorresponds to variant dbSNP:rs104886270EnsemblClinVar.1
Natural variantiVAR_0019641421G → W in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886272EnsemblClinVar.1
Natural variantiVAR_0019651422R → C in APSX; juvenile type. Corresponds to variant dbSNP:rs144282156EnsemblClinVar.1
Natural variantiVAR_0080131427G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886274EnsemblClinVar.1
Natural variantiVAR_0080141442G → D in APSX. Corresponds to variant dbSNP:rs104886277EnsemblClinVar.1
Natural variantiVAR_0019661451G → S in APSX. Corresponds to variant dbSNP:rs104886280EnsemblClinVar.1
Natural variantiVAR_0080151486G → A in APSX; adult type. Corresponds to variant dbSNP:rs104886282EnsemblClinVar.1
Natural variantiVAR_0112871488S → F in APSX. Corresponds to variant dbSNP:rs104886283EnsemblClinVar.1
Natural variantiVAR_0019671498A → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886284EnsemblClinVar.1
Natural variantiVAR_0112881511R → H in APSX; juvenile type; could be a non pathogenic variant. 1 PublicationCorresponds to variant dbSNP:rs104886285EnsemblClinVar.1
Natural variantiVAR_0019681517P → T in APSX; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs201220208EnsemblClinVar.1
Natural variantiVAR_0019691538W → S in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886293EnsemblClinVar.1
Natural variantiVAR_0019701563R → Q in APSX. 1 PublicationCorresponds to variant dbSNP:rs281874743EnsemblClinVar.1
Natural variantiVAR_0019711564C → S in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886287EnsemblClinVar.1
Natural variantiVAR_0112891567C → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886288EnsemblClinVar.1
Natural variantiVAR_0019721596G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886297EnsemblClinVar.1
Natural variantiVAR_0195941597 – 1685Missing in APSX. 1 PublicationAdd BLAST89
Natural variantiVAR_0019731649L → R in APSX; adult type. 3 PublicationsCorresponds to variant dbSNP:rs104886303EnsemblClinVar.1
Natural variantiVAR_0112901677R → P in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar.1
Natural variantiVAR_0019741677R → Q in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar.1
Natural variantiVAR_0112911678C → W in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886311EnsemblClinVar.1
Natural variantiVAR_0195951679 – 1685Missing 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

DisGeNETi1287
GeneReviewsiCOL4A5
MalaCardsiCOL4A5
MIMi301050 phenotype
OpenTargetsiENSG00000188153
Orphaneti97562 NON RARE IN EUROPE: Benign familial hematuria
88917 X-linked Alport syndrome
1018 X-linked diffuse leiomyomatosis-Alport syndrome
PharmGKBiPA26722

Chemistry databases

ChEMBLiCHEMBL2364188

Polymorphism and mutation databases

BioMutaiCOL4A5
DMDMi461675

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000000585227 – 1685Collagen alpha-5(IV) chainAdd BLAST1659

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi125N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi451InterchainPROSITE-ProRule annotation
Disulfide bondi481InterchainPROSITE-ProRule annotation
Disulfide bondi484InterchainPROSITE-ProRule annotation
Disulfide bondi1476 ↔ 1567Or C-1476 with C-1564PROSITE-ProRule annotation
Disulfide bondi1509 ↔ 1564Or C-1509 with C-1567PROSITE-ProRule annotation
Disulfide bondi1521 ↔ 1527PROSITE-ProRule annotation
Cross-linki1549S-Lysyl-methionine sulfilimine (Met-Lys) (interchain with K-1667)By similarity
Disulfide bondi1586 ↔ 1681Or C-1586 with C-1678PROSITE-ProRule annotation
Disulfide bondi1620 ↔ 1678Or C-1620 with C-1681PROSITE-ProRule annotation
Disulfide bondi1632 ↔ 1638PROSITE-ProRule annotation
Cross-linki1667S-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

EPDiP29400
MaxQBiP29400
PaxDbiP29400
PeptideAtlasiP29400
PRIDEiP29400
ProteomicsDBi54566
54567 [P29400-2]

PTM databases

iPTMnetiP29400
PhosphoSitePlusiP29400

Expressioni

Tissue specificityi

Isoform 2 is found in kidney.

Gene expression databases

BgeeiENSG00000188153 Expressed in 214 organ(s), highest expression level in esophagus
CleanExiHS_COL4A5
ExpressionAtlasiP29400 baseline and differential
GenevisibleiP29400 HS

Organism-specific databases

HPAiHPA065449

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

BioGridi107684, 23 interactors
ComplexPortaliCPX-1724 Collagen type IV trimer variant 2
CPX-1725 Collagen type IV trimer variant 3
IntActiP29400, 41 interactors
MINTiP29400
STRINGi9606.ENSP00000331902

Structurei

3D structure databases

ProteinModelPortaliP29400
SMRiP29400
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1461 – 1685Collagen IV NC1PROSITE-ProRule annotationAdd BLAST225

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni27 – 41Nonhelical region (NC2)Add BLAST15
Regioni42 – 1456Triple-helical regionAdd BLAST1415

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

GeneTreeiENSGT00900000140804
HOGENOMiHOG000085652
HOVERGENiHBG004933
InParanoidiP29400
KOiK06237
OMAiDGNDYAH
OrthoDBiEOG091G0613
TreeFamiTF344135

Family and domain databases

Gene3Di2.170.240.10, 1 hit
InterProiView protein in InterPro
IPR008160 Collagen
IPR001442 Collagen_IV_NC
IPR036954 Collagen_IV_NC_sf
IPR016187 CTDL_fold
PfamiView protein in Pfam
PF01413 C4, 2 hits
PF01391 Collagen, 20 hits
SMARTiView protein in SMART
SM00111 C4, 2 hits
SUPFAMiSSF56436 SSF56436, 2 hits
PROSITEiView 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. AlignAdd to basket

This 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 '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
GO
Isoform 2 (identifier: P29400-2) [UniParc]FASTAAdd to basket

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

Note: Contains 2 extra G-X-X repeats into the triple-helix domain.
Show »
Length:1,691
Mass (Da):161,632
Checksum:iE45612A1C153D123
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y998H0Y998_HUMAN
Collagen alpha-5(IV) chain
COL4A5
115Annotation score:
H0Y9R8H0Y9R8_HUMAN
Collagen alpha-5(IV) chain
COL4A5
73Annotation score:
A0A2R8Y5W0A0A2R8Y5W0_HUMAN
Collagen alpha-5(IV) chain
COL4A5
40Annotation score:
Q49AM6Q49AM6_HUMAN
COL4A5 protein
COL4A5
695Annotation score:
H0Y9H0H0Y9H0_HUMAN
Collagen alpha-5(IV) chain
COL4A5
174Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti440 – 441AG → GS in AAA99480 (PubMed:2380186).Curated2
Sequence conflicti625 – 628FGPP → LALQ in AAA99480 (PubMed:2380186).Curated4
Sequence conflicti667 – 668LP → FR in AAA99480 (PubMed:2380186).Curated2
Sequence conflicti888A → R in AAA99480 (PubMed:2380186).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00191454G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886043EnsemblClinVar.1
Natural variantiVAR_007991114G → S in APSX. 1
Natural variantiVAR_071932123G → E in APSX. 1 Publication1
Natural variantiVAR_001915129G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.1
Natural variantiVAR_001916129G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.1
Natural variantiVAR_001917174G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886055EnsemblClinVar.1
Natural variantiVAR_011220177G → C in APSX; presenting with dot-and-fleck retinopathy. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.1
Natural variantiVAR_001918177G → R in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.1
Natural variantiVAR_011221192G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886060EnsemblClinVar.1
Natural variantiVAR_011222204G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886063EnsemblClinVar.1
Natural variantiVAR_001919216G → R in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886067EnsemblClinVar.1
Natural variantiVAR_001920219G → S in APSX. Corresponds to variant dbSNP:rs104886075EnsemblClinVar.1
Natural variantiVAR_011223230G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886076EnsemblClinVar.1
Natural variantiVAR_011224239G → E in APSX. Corresponds to variant dbSNP:rs104886068EnsemblClinVar.1
Natural variantiVAR_011225264G → R in APSX; adult type. Corresponds to variant dbSNP:rs104886069EnsemblClinVar.1
Natural variantiVAR_001921289G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886450EnsemblClinVar.1
Natural variantiVAR_011226292G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886073EnsemblClinVar.1
Natural variantiVAR_001922292G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886078EnsemblClinVar.1
Natural variantiVAR_011227295G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886079EnsemblClinVar.1
Natural variantiVAR_011228298G → S in APSX. Corresponds to variant dbSNP:rs104886080EnsemblClinVar.1
Natural variantiVAR_011229319G → R in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886085EnsemblClinVar.1
Natural variantiVAR_001923325G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886091EnsemblClinVar.1
Natural variantiVAR_001924325G → R in APSX; juvenile and adult types. 3 PublicationsCorresponds to variant dbSNP:rs104886088EnsemblClinVar.1
Natural variantiVAR_007992331G → V in APSX. Corresponds to variant dbSNP:rs104886092EnsemblClinVar.1
Natural variantiVAR_001926365 – 367Missing in APSX; juvenile type. 3
Natural variantiVAR_001925365G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886096EnsemblClinVar.1
Natural variantiVAR_001927371G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886097EnsemblClinVar.1
Natural variantiVAR_001928374G → A in APSX. Corresponds to variant dbSNP:rs104886108EnsemblClinVar.1
Natural variantiVAR_001929383G → D in APSX; juvenile type. Corresponds to variant dbSNP:rs104886105EnsemblClinVar.1
Natural variantiVAR_001930400G → E in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886107EnsemblClinVar.1
Natural variantiVAR_001931406G → V in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886100EnsemblClinVar.1
Natural variantiVAR_001932409G → D in APSX. Corresponds to variant dbSNP:rs104886101EnsemblClinVar.1
Natural variantiVAR_011230412G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886102EnsemblClinVar.1
Natural variantiVAR_011231415G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886103EnsemblClinVar.1
Natural variantiVAR_011232420G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs281874663EnsemblClinVar.1
Natural variantiVAR_011233420G → V in APSX. 1 Publication1
Natural variantiVAR_011234423G → E in APSX. Corresponds to variant dbSNP:rs104886110EnsemblClinVar.1
Natural variantiVAR_001933430A → D1 PublicationCorresponds to variant dbSNP:rs142883891EnsemblClinVar.1
Natural variantiVAR_001934444I → S3 PublicationsCorresponds to variant dbSNP:rs2272946EnsemblClinVar.1
Natural variantiVAR_001935456 – 458Missing in APSX. 1 Publication3
Natural variantiVAR_001936466G → E in APSX. Corresponds to variant dbSNP:rs104886114EnsemblClinVar.1
Natural variantiVAR_007993472G → R in APSX. Corresponds to variant dbSNP:rs104886116EnsemblClinVar.1
Natural variantiVAR_011235491G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886117EnsemblClinVar.1
Natural variantiVAR_001937494G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886118EnsemblClinVar.1
Natural variantiVAR_001938496 – 507Missing in APSX; juvenile type. Add BLAST12
Natural variantiVAR_011236497G → C in APSX; adult type. Corresponds to variant dbSNP:rs104886120EnsemblClinVar.1
Natural variantiVAR_001939521G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886121EnsemblClinVar.1
Natural variantiVAR_001940521G → S in APSX. Corresponds to variant dbSNP:rs104886121EnsemblClinVar.1
Natural variantiVAR_011237524G → D in APSX; adult type. Corresponds to variant dbSNP:rs104886119EnsemblClinVar.1
Natural variantiVAR_007994545G → R in APSX. Corresponds to variant dbSNP:rs104886126EnsemblClinVar.1
Natural variantiVAR_007995545G → V in APSX. Corresponds to variant dbSNP:rs104886127EnsemblClinVar.1
Natural variantiVAR_011238558G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886129EnsemblClinVar.1
Natural variantiVAR_007996561G → R in APSX. Corresponds to variant dbSNP:rs104886136EnsemblClinVar.1
Natural variantiVAR_001941567G → A in APSX; juvenile type. Corresponds to variant dbSNP:rs104886137EnsemblClinVar.1
Natural variantiVAR_011239573G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886138EnsemblClinVar.1
Natural variantiVAR_011240579G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886130EnsemblClinVar.1
Natural variantiVAR_007997579G → R in APSX; adult type. Corresponds to variant dbSNP:rs104886139EnsemblClinVar.1
Natural variantiVAR_011241603G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886133EnsemblClinVar.1
Natural variantiVAR_011242609G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886135EnsemblClinVar.1
Natural variantiVAR_001942609G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886140EnsemblClinVar.1
Natural variantiVAR_011243619P → S1 Publication1
Natural variantiVAR_011244621G → C in APSX. Corresponds to variant dbSNP:rs104886141EnsemblClinVar.1
Natural variantiVAR_011245624G → D in APSX. 2 PublicationsCorresponds to variant dbSNP:rs104886142EnsemblClinVar.1
Natural variantiVAR_011246629G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886144EnsemblClinVar.1
Natural variantiVAR_011247632G → D in APSX. Corresponds to variant dbSNP:rs104886145EnsemblClinVar.1
Natural variantiVAR_011248633E → K in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886146EnsemblClinVar.1
Natural variantiVAR_007998635G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs281874683EnsemblClinVar.1
Natural variantiVAR_001944638G → A in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.1
Natural variantiVAR_007999638G → S in APSX; juvenile type. Corresponds to variant dbSNP:rs104886147EnsemblClinVar.1
Natural variantiVAR_001943638G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.1
Natural variantiVAR_001945653G → R in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886150EnsemblClinVar.1
Natural variantiVAR_001946664K → N1 PublicationCorresponds to variant dbSNP:rs34077552EnsemblClinVar.1
Natural variantiVAR_008000669G → A in APSX; juvenile type. Corresponds to variant dbSNP:rs104886151EnsemblClinVar.1
Natural variantiVAR_011249681G → D in APSX. Corresponds to variant dbSNP:rs104886158EnsemblClinVar.1
Natural variantiVAR_001947684G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886160EnsemblClinVar.1
Natural variantiVAR_008001687G → E in APSX. Corresponds to variant dbSNP:rs104886168EnsemblClinVar.1
Natural variantiVAR_011250722G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886163EnsemblClinVar.1
Natural variantiVAR_011251739P → A1 PublicationCorresponds to variant dbSNP:rs104886164EnsemblClinVar.1
Natural variantiVAR_011252739P → S in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886164EnsemblClinVar.1
Natural variantiVAR_001948740G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886165EnsemblClinVar.1
Natural variantiVAR_008002743G → D in APSX. Corresponds to variant dbSNP:rs104886166EnsemblClinVar.1
Natural variantiVAR_001949772G → D in APSX; juvenile type. Corresponds to variant dbSNP:rs104886173EnsemblClinVar.1
Natural variantiVAR_001950796G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886177EnsemblClinVar.1
Natural variantiVAR_011254802 – 807Missing in APSX. 1 Publication6
Natural variantiVAR_011253802G → R in APSX. Corresponds to variant dbSNP:rs104886179EnsemblClinVar.1
Natural variantiVAR_008003808G → E in APSX; adult type. Corresponds to variant dbSNP:rs104886180EnsemblClinVar.1
Natural variantiVAR_011255811G → V in APSX; juvenile type. Corresponds to variant dbSNP:rs104886183EnsemblClinVar.1
Natural variantiVAR_008004822 – 824Missing in APSX. 3
Natural variantiVAR_011256822G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886184EnsemblClinVar.1
Natural variantiVAR_008005852G → E in APSX; juvenile type. Corresponds to variant dbSNP:rs104886187EnsemblClinVar.1
Natural variantiVAR_001951852G → R in APSX. Corresponds to variant dbSNP:rs104886186EnsemblClinVar.1
Natural variantiVAR_011257864 – 875Missing in APSX. 1 PublicationAdd BLAST12
Natural variantiVAR_001952866G → E in APSX; adult type. Corresponds to variant dbSNP:rs104886188EnsemblClinVar.1
Natural variantiVAR_001953869G → R in APSX; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs104886189EnsemblClinVar.1
Natural variantiVAR_001954872G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886190EnsemblClinVar.1
Natural variantiVAR_008006878G → R in APSX. 1
Natural variantiVAR_011258898M → V in APSX; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs104886192EnsemblClinVar.1
Natural variantiVAR_011259902G → V in APSX; juvenile type. 1 Publication1
Natural variantiVAR_011260911G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886363EnsemblClinVar.1
Natural variantiVAR_011261941G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886196EnsemblClinVar.1
Natural variantiVAR_001955942Missing in APSX. 1
Natural variantiVAR_011262947G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886370EnsemblClinVar.1
Natural variantiVAR_011263953G → V in APSX; found on the same allele as variant Glu-1211. 1 PublicationCorresponds to variant dbSNP:rs78972735EnsemblClinVar.1
Natural variantiVAR_008007988 – 992Missing in APSX; adult type. 5
Natural variantiVAR_0112641006G → A in APSX. 1 Publication1
Natural variantiVAR_0112651006G → V in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886202EnsemblClinVar.1
Natural variantiVAR_0112661015G → E in APSX. 1
Natural variantiVAR_0112671015G → V in APSX. Corresponds to variant dbSNP:rs104886211EnsemblClinVar.1
Natural variantiVAR_0112681030G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886210EnsemblClinVar.1
Natural variantiVAR_0112691036G → V in APSX. Corresponds to variant dbSNP:rs104886212EnsemblClinVar.1
Natural variantiVAR_0112701039G → S in APSX; juvenile type. Corresponds to variant dbSNP:rs104886214EnsemblClinVar.1
Natural variantiVAR_0112711045G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886215EnsemblClinVar.1
Natural variantiVAR_0112721066G → R in APSX. Corresponds to variant dbSNP:rs104886219EnsemblClinVar.1
Natural variantiVAR_0112731066G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886219EnsemblClinVar.1
Natural variantiVAR_0112741086G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886232EnsemblClinVar.1
Natural variantiVAR_0019561104G → V in APSX. Corresponds to variant dbSNP:rs104886224EnsemblClinVar.1
Natural variantiVAR_0080081107G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886225EnsemblClinVar.1
Natural variantiVAR_0019571143G → D in APSX; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886229EnsemblClinVar.1
Natural variantiVAR_0019581143G → S in APSX; adult type. Corresponds to variant dbSNP:rs104886228EnsemblClinVar.1
Natural variantiVAR_0112751158G → R in APSX. 1 Publication1
Natural variantiVAR_0080091161G → R in APSX. Corresponds to variant dbSNP:rs104886235EnsemblClinVar.1
Natural variantiVAR_0112761167G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886236EnsemblClinVar.1
Natural variantiVAR_0112771170G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886237EnsemblClinVar.1
Natural variantiVAR_0019591182G → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886242EnsemblClinVar.1
Natural variantiVAR_0112781196G → R in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886244EnsemblClinVar.1
Natural variantiVAR_0112791205G → C in APSX; juvenile type. Corresponds to variant dbSNP:rs104886245EnsemblClinVar.1
Natural variantiVAR_0112801211G → E in APSX; found on the same allele as variant Val-953. Corresponds to variant dbSNP:rs104886247EnsemblClinVar.1
Natural variantiVAR_0080101211G → R in APSX. Corresponds to variant dbSNP:rs104886246EnsemblClinVar.1
Natural variantiVAR_0080111220G → D in APSX. Corresponds to variant dbSNP:rs104886251EnsemblClinVar.1
Natural variantiVAR_0112811229G → D in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886253EnsemblClinVar.1
Natural variantiVAR_0019601241G → C in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886255EnsemblClinVar.1
Natural variantiVAR_0112821244G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886261EnsemblClinVar.1
Natural variantiVAR_0112831252G → S in APSX; adult type. Corresponds to variant dbSNP:rs104886262EnsemblClinVar.1
Natural variantiVAR_0112841261G → E in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886264EnsemblClinVar.1
Natural variantiVAR_0019611270G → S in APSX. Corresponds to variant dbSNP:rs104886257EnsemblClinVar.1
Natural variantiVAR_0080121333G → S in APSX. Corresponds to variant dbSNP:rs104886266EnsemblClinVar.1
Natural variantiVAR_0112851357G → S in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886267EnsemblClinVar.1
Natural variantiVAR_0019621379G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886269EnsemblClinVar.1
Natural variantiVAR_0019631410R → C in APSX; adult and juvenile types. 1 PublicationCorresponds to variant dbSNP:rs104886270EnsemblClinVar.1
Natural variantiVAR_0019641421G → W in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886272EnsemblClinVar.1
Natural variantiVAR_0019651422R → C in APSX; juvenile type. Corresponds to variant dbSNP:rs144282156EnsemblClinVar.1
Natural variantiVAR_0080131427G → V in APSX; adult type. Corresponds to variant dbSNP:rs104886274EnsemblClinVar.1
Natural variantiVAR_0112861428L → M1 Publication1
Natural variantiVAR_0080141442G → D in APSX. Corresponds to variant dbSNP:rs104886277EnsemblClinVar.1
Natural variantiVAR_0019661451G → S in APSX. Corresponds to variant dbSNP:rs104886280EnsemblClinVar.1
Natural variantiVAR_0080151486G → A in APSX; adult type. Corresponds to variant dbSNP:rs104886282EnsemblClinVar.1
Natural variantiVAR_0112871488S → F in APSX. Corresponds to variant dbSNP:rs104886283EnsemblClinVar.1
Natural variantiVAR_0019671498A → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886284EnsemblClinVar.1
Natural variantiVAR_0112881511R → H in APSX; juvenile type; could be a non pathogenic variant. 1 PublicationCorresponds to variant dbSNP:rs104886285EnsemblClinVar.1
Natural variantiVAR_0019681517P → T in APSX; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs201220208EnsemblClinVar.1
Natural variantiVAR_0019691538W → S in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886293EnsemblClinVar.1
Natural variantiVAR_0080161559P → A. Corresponds to variant dbSNP:rs104886295EnsemblClinVar.1
Natural variantiVAR_0019701563R → Q in APSX. 1 PublicationCorresponds to variant dbSNP:rs281874743EnsemblClinVar.1
Natural variantiVAR_0019711564C → S in APSX; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886287EnsemblClinVar.1
Natural variantiVAR_0112891567C → R in APSX; juvenile type. Corresponds to variant dbSNP:rs104886288EnsemblClinVar.1
Natural variantiVAR_0019721596G → D in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886297EnsemblClinVar.1
Natural variantiVAR_0195941597 – 1685Missing in APSX. 1 PublicationAdd BLAST89
Natural variantiVAR_0019731649L → R in APSX; adult type. 3 PublicationsCorresponds to variant dbSNP:rs104886303EnsemblClinVar.1
Natural variantiVAR_0112901677R → P in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar.1
Natural variantiVAR_0019741677R → Q in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar.1
Natural variantiVAR_0112911678C → W in APSX. 1 PublicationCorresponds to variant dbSNP:rs104886311EnsemblClinVar.1
Natural variantiVAR_0195951679 – 1685Missing in APSX. 7

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0011731264G → GPTGFQG in isoform 2. Curated1

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
, U04470, U04471, U04472, U04473, U04474, U04476, U04477, U04478, U04479, U04480, U04483, U04485, U04486, U04487, U04488, U04489, U04490, U04491, U04492, U04493, U04494, U04495, U04496, U04497, U04498, U04499, U04500, U04501, U04502, U04503, U04504, U04505, U04506, U04507, U04508, U04509, U04510, U04511, U04512, U04514, U04515, U04516, U04517, U04518, U04519 Genomic DNA Translation: AAC27816.1
U04520
, U04470, U04471, U04472, U04473, U04474, U04476, U04477, U04478, U04479, U04480, U04483, U04485, U04486, U04487, U04488, U04489, U04490, U04491, U04492, U04493, U04494, U04495, U04496, U04497, U04498, U04499, U04500, U04501, U04502, U04503, U04504, U04505, U04506, U04507, U04508, U04509, U04510, AF199451, AF199452, U04511, U04512, U04514, U04515, U04516, U04517, U04518, U04519 Genomic DNA Translation: AAF66217.2
M63473
, M63455, M63456, M63457, M63458, M63459, M63460, M63461, M63462, M63463, M63464, M63465, M63466, M63467, M63468, M63470, M63471, 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
CCDSiCCDS14543.1 [P29400-1]
CCDS35366.1 [P29400-2]
PIRiS22917
RefSeqiNP_000486.1, NM_000495.4 [P29400-1]
NP_203699.1, NM_033380.2 [P29400-2]
UniGeneiHs.369089

Genome annotation databases

EnsembliENST00000328300; ENSP00000331902; ENSG00000188153 [P29400-2]
ENST00000361603; ENSP00000354505; ENSG00000188153 [P29400-1]
GeneIDi1287
KEGGihsa:1287
UCSCiuc004enz.3 human [P29400-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar 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
, U04470, U04471, U04472, U04473, U04474, U04476, U04477, U04478, U04479, U04480, U04483, U04485, U04486, U04487, U04488, U04489, U04490, U04491, U04492, U04493, U04494, U04495, U04496, U04497, U04498, U04499, U04500, U04501, U04502, U04503, U04504, U04505, U04506, U04507, U04508, U04509, U04510, U04511, U04512, U04514, U04515, U04516, U04517, U04518, U04519 Genomic DNA Translation: AAC27816.1
U04520
, U04470, U04471, U04472, U04473, U04474, U04476, U04477, U04478, U04479, U04480, U04483, U04485, U04486, U04487, U04488, U04489, U04490, U04491, U04492, U04493, U04494, U04495, U04496, U04497, U04498, U04499, U04500, U04501, U04502, U04503, U04504, U04505, U04506, U04507, U04508, U04509, U04510, AF199451, AF199452, U04511, U04512, U04514, U04515, U04516, U04517, U04518, U04519 Genomic DNA Translation: AAF66217.2
M63473
, M63455, M63456, M63457, M63458, M63459, M63460, M63461, M63462, M63463, M63464, M63465, M63466, M63467, M63468, M63470, M63471, 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
CCDSiCCDS14543.1 [P29400-1]
CCDS35366.1 [P29400-2]
PIRiS22917
RefSeqiNP_000486.1, NM_000495.4 [P29400-1]
NP_203699.1, NM_033380.2 [P29400-2]
UniGeneiHs.369089

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5NAZX-ray1.85A1457-1685[»]
ProteinModelPortaliP29400
SMRiP29400
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107684, 23 interactors
ComplexPortaliCPX-1724 Collagen type IV trimer variant 2
CPX-1725 Collagen type IV trimer variant 3
IntActiP29400, 41 interactors
MINTiP29400
STRINGi9606.ENSP00000331902

Chemistry databases

ChEMBLiCHEMBL2364188

PTM databases

iPTMnetiP29400
PhosphoSitePlusiP29400

Polymorphism and mutation databases

BioMutaiCOL4A5
DMDMi461675

Proteomic databases

EPDiP29400
MaxQBiP29400
PaxDbiP29400
PeptideAtlasiP29400
PRIDEiP29400
ProteomicsDBi54566
54567 [P29400-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328300; ENSP00000331902; ENSG00000188153 [P29400-2]
ENST00000361603; ENSP00000354505; ENSG00000188153 [P29400-1]
GeneIDi1287
KEGGihsa:1287
UCSCiuc004enz.3 human [P29400-1]

Organism-specific databases

CTDi1287
DisGeNETi1287
EuPathDBiHostDB:ENSG00000188153.12
GeneCardsiCOL4A5
GeneReviewsiCOL4A5
H-InvDBiHIX0028371
HGNCiHGNC:2207 COL4A5
HPAiHPA065449
MalaCardsiCOL4A5
MIMi301050 phenotype
303630 gene
neXtProtiNX_P29400
OpenTargetsiENSG00000188153
Orphaneti97562 NON RARE IN EUROPE: Benign familial hematuria
88917 X-linked Alport syndrome
1018 X-linked diffuse leiomyomatosis-Alport syndrome
PharmGKBiPA26722
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00900000140804
HOGENOMiHOG000085652
HOVERGENiHBG004933
InParanoidiP29400
KOiK06237
OMAiDGNDYAH
OrthoDBiEOG091G0613
TreeFamiTF344135

Enzyme and pathway databases

ReactomeiR-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
SIGNORiP29400

Miscellaneous databases

ChiTaRSiCOL4A5 human
GeneWikiiCOL4A5
GenomeRNAii1287
PROiPR:P29400
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188153 Expressed in 214 organ(s), highest expression level in esophagus
CleanExiHS_COL4A5
ExpressionAtlasiP29400 baseline and differential
GenevisibleiP29400 HS

Family and domain databases

Gene3Di2.170.240.10, 1 hit
InterProiView protein in InterPro
IPR008160 Collagen
IPR001442 Collagen_IV_NC
IPR036954 Collagen_IV_NC_sf
IPR016187 CTDL_fold
PfamiView protein in Pfam
PF01413 C4, 2 hits
PF01391 Collagen, 20 hits
SMARTiView protein in SMART
SM00111 C4, 2 hits
SUPFAMiSSF56436 SSF56436, 2 hits
PROSITEiView protein in PROSITE
PS51403 NC1_IV, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCO4A5_HUMAN
AccessioniPrimary (citable) accession number: P29400
Secondary accession number(s): Q16006
, Q16126, Q6LD84, Q7Z700, Q9NUB7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: February 1, 1994
Last modified: November 7, 2018
This is version 213 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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