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Protein

Collagen alpha-5(IV) chain

Gene

COL4A5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-32311-MONOMER.
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-3000157. Laminin interactions.
R-HSA-3000171. Non-integrin membrane-ECM interactions.
R-HSA-3000178. ECM proteoglycans.
R-HSA-419037. NCAM1 interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-5(IV) chain
Gene namesi
Name:COL4A5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:2207. COL4A5.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs104886043dbSNPEnsembl.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 rs281874723dbSNPEnsembl.1
Natural variantiVAR_001916129G → V in APSX; juvenile type. Corresponds to variant rs281874723dbSNPEnsembl.1
Natural variantiVAR_001917174G → R in APSX. 1 PublicationCorresponds to variant rs104886055dbSNPEnsembl.1
Natural variantiVAR_011220177G → C in APSX; presenting with dot-and-fleck retinopathy. 1 PublicationCorresponds to variant rs104886056dbSNPEnsembl.1
Natural variantiVAR_001918177G → R in APSX; adult type. 1 PublicationCorresponds to variant rs104886056dbSNPEnsembl.1
Natural variantiVAR_011221192G → R in APSX. 1 PublicationCorresponds to variant rs104886060dbSNPEnsembl.1
Natural variantiVAR_011222204G → V in APSX; juvenile type. Corresponds to variant rs104886063dbSNPEnsembl.1
Natural variantiVAR_001919216G → R in APSX; juvenile type. 1 PublicationCorresponds to variant rs104886067dbSNPEnsembl.1
Natural variantiVAR_001920219G → S in APSX. Corresponds to variant rs104886075dbSNPEnsembl.1
Natural variantiVAR_011223230G → R in APSX; juvenile type. Corresponds to variant rs104886076dbSNPEnsembl.1
Natural variantiVAR_011224239G → E in APSX. Corresponds to variant rs104886068dbSNPEnsembl.1
Natural variantiVAR_011225264G → R in APSX; adult type. Corresponds to variant rs104886069dbSNPEnsembl.1
Natural variantiVAR_001921289G → V in APSX; juvenile type. Corresponds to variant rs104886450dbSNPEnsembl.1
Natural variantiVAR_011226292G → R in APSX. 1 PublicationCorresponds to variant rs104886073dbSNPEnsembl.1
Natural variantiVAR_001922292G → V in APSX; juvenile type. Corresponds to variant rs104886078dbSNPEnsembl.1
Natural variantiVAR_011227295G → D in APSX. 1 PublicationCorresponds to variant rs104886079dbSNPEnsembl.1
Natural variantiVAR_011228298G → S in APSX. Corresponds to variant rs104886080dbSNPEnsembl.1
Natural variantiVAR_011229319G → R in APSX; juvenile type. 1 PublicationCorresponds to variant rs104886085dbSNPEnsembl.1
Natural variantiVAR_001923325G → E in APSX. 1 PublicationCorresponds to variant rs104886091dbSNPEnsembl.1
Natural variantiVAR_001924325G → R in APSX; juvenile and adult types. 3 PublicationsCorresponds to variant rs104886088dbSNPEnsembl.1
Natural variantiVAR_007992331G → V in APSX. Corresponds to variant rs104886092dbSNPEnsembl.1
Natural variantiVAR_001926365 – 367Missing in APSX; juvenile type. 3
Natural variantiVAR_001925365G → E in APSX; juvenile type. Corresponds to variant rs104886096dbSNPEnsembl.1
Natural variantiVAR_001927371G → E in APSX; juvenile type. Corresponds to variant rs104886097dbSNPEnsembl.1
Natural variantiVAR_001928374G → A in APSX. Corresponds to variant rs104886108dbSNPEnsembl.1
Natural variantiVAR_001929383G → D in APSX; juvenile type. Corresponds to variant rs104886105dbSNPEnsembl.1
Natural variantiVAR_001930400G → E in APSX; adult type. 1 PublicationCorresponds to variant rs104886107dbSNPEnsembl.1
Natural variantiVAR_001931406G → V in APSX; adult type. 1 PublicationCorresponds to variant rs104886100dbSNPEnsembl.1
Natural variantiVAR_001932409G → D in APSX. Corresponds to variant rs104886101dbSNPEnsembl.1
Natural variantiVAR_011230412G → V in APSX; adult type. Corresponds to variant rs104886102dbSNPEnsembl.1
Natural variantiVAR_011231415G → R in APSX. 1 PublicationCorresponds to variant rs104886103dbSNPEnsembl.1
Natural variantiVAR_011232420G → E in APSX; juvenile type. Corresponds to variant rs281874663dbSNPEnsembl.1
Natural variantiVAR_011233420G → V in APSX. 1 Publication1
Natural variantiVAR_011234423G → E in APSX. Corresponds to variant rs104886110dbSNPEnsembl.1
Natural variantiVAR_001935456 – 458Missing in APSX. 1 Publication3
Natural variantiVAR_001936466G → E in APSX. Corresponds to variant rs104886114dbSNPEnsembl.1
Natural variantiVAR_007993472G → R in APSX. Corresponds to variant rs104886116dbSNPEnsembl.1
Natural variantiVAR_011235491G → E in APSX; juvenile type. Corresponds to variant rs104886117dbSNPEnsembl.1
Natural variantiVAR_001937494G → D in APSX; adult type. Corresponds to variant rs104886118dbSNPEnsembl.1
Natural variantiVAR_001938496 – 507Missing in APSX; juvenile type. Add BLAST12
Natural variantiVAR_011236497G → C in APSX; adult type. Corresponds to variant rs104886120dbSNPEnsembl.1
Natural variantiVAR_001939521G → C in APSX. 1 PublicationCorresponds to variant rs104886121dbSNPEnsembl.1
Natural variantiVAR_001940521G → S in APSX. 1
Natural variantiVAR_011237524G → D in APSX; adult type. Corresponds to variant rs104886119dbSNPEnsembl.1
Natural variantiVAR_007994545G → R in APSX. Corresponds to variant rs104886126dbSNPEnsembl.1
Natural variantiVAR_007995545G → V in APSX. Corresponds to variant rs104886127dbSNPEnsembl.1
Natural variantiVAR_011238558G → R in APSX. 1 PublicationCorresponds to variant rs104886129dbSNPEnsembl.1
Natural variantiVAR_007996561G → R in APSX. Corresponds to variant rs104886136dbSNPEnsembl.1
Natural variantiVAR_001941567G → A in APSX; juvenile type. Corresponds to variant rs104886137dbSNPEnsembl.1
Natural variantiVAR_011239573G → D in APSX. 1 PublicationCorresponds to variant rs104886138dbSNPEnsembl.1
Natural variantiVAR_011240579G → E in APSX. 1 PublicationCorresponds to variant rs104886130dbSNPEnsembl.1
Natural variantiVAR_007997579G → R in APSX; adult type. Corresponds to variant rs104886139dbSNPEnsembl.1
Natural variantiVAR_011241603G → V in APSX. 1 PublicationCorresponds to variant rs104886133dbSNPEnsembl.1
Natural variantiVAR_011242609G → R in APSX; juvenile type. Corresponds to variant rs104886135dbSNPEnsembl.1
Natural variantiVAR_001942609G → V in APSX; juvenile type. Corresponds to variant rs104886140dbSNPEnsembl.1
Natural variantiVAR_011244621G → C in APSX. Corresponds to variant rs104886141dbSNPEnsembl.1
Natural variantiVAR_011245624G → D in APSX. 2 PublicationsCorresponds to variant rs104886142dbSNPEnsembl.1
Natural variantiVAR_011246629G → D in APSX. 1 PublicationCorresponds to variant rs104886144dbSNPEnsembl.1
Natural variantiVAR_011247632G → D in APSX. Corresponds to variant rs104886145dbSNPEnsembl.1
Natural variantiVAR_011248633E → K in APSX. 1 PublicationCorresponds to variant rs104886146dbSNPEnsembl.1
Natural variantiVAR_007998635G → D in APSX. 1 PublicationCorresponds to variant rs281874683dbSNPEnsembl.1
Natural variantiVAR_001944638G → A in APSX. 1 PublicationCorresponds to variant rs104886134dbSNPEnsembl.1
Natural variantiVAR_007999638G → S in APSX; juvenile type. Corresponds to variant rs104886147dbSNPEnsembl.1
Natural variantiVAR_001943638G → V in APSX. 1 PublicationCorresponds to variant rs104886134dbSNPEnsembl.1
Natural variantiVAR_001945653G → R in APSX; juvenile type. 1 PublicationCorresponds to variant rs104886150dbSNPEnsembl.1
Natural variantiVAR_008000669G → A in APSX; juvenile type. Corresponds to variant rs104886151dbSNPEnsembl.1
Natural variantiVAR_011249681G → D in APSX. Corresponds to variant rs104886158dbSNPEnsembl.1
Natural variantiVAR_001947684G → V in APSX; adult type. Corresponds to variant rs104886160dbSNPEnsembl.1
Natural variantiVAR_008001687G → E in APSX. Corresponds to variant rs104886168dbSNPEnsembl.1
Natural variantiVAR_011250722G → E in APSX. 1 PublicationCorresponds to variant rs104886163dbSNPEnsembl.1
Natural variantiVAR_011252739P → S in APSX; juvenile type. 1 PublicationCorresponds to variant rs104886164dbSNPEnsembl.1
Natural variantiVAR_001948740G → E in APSX; juvenile type. Corresponds to variant rs104886165dbSNPEnsembl.1
Natural variantiVAR_008002743G → D in APSX. Corresponds to variant rs104886166dbSNPEnsembl.1
Natural variantiVAR_001949772G → D in APSX; juvenile type. Corresponds to variant rs104886173dbSNPEnsembl.1
Natural variantiVAR_001950796G → R in APSX. 1 PublicationCorresponds to variant rs104886177dbSNPEnsembl.1
Natural variantiVAR_011254802 – 807Missing in APSX. 1 Publication6
Natural variantiVAR_011253802G → R in APSX. Corresponds to variant rs104886179dbSNPEnsembl.1
Natural variantiVAR_008003808G → E in APSX; adult type. Corresponds to variant rs104886180dbSNPEnsembl.1
Natural variantiVAR_011255811G → V in APSX; juvenile type. Corresponds to variant rs104886183dbSNPEnsembl.1
Natural variantiVAR_008004822 – 824Missing in APSX. 3
Natural variantiVAR_011256822G → R in APSX. 1 PublicationCorresponds to variant rs104886184dbSNPEnsembl.1
Natural variantiVAR_008005852G → E in APSX; juvenile type. Corresponds to variant rs104886187dbSNPEnsembl.1
Natural variantiVAR_001951852G → R in APSX. Corresponds to variant rs104886186dbSNPEnsembl.1
Natural variantiVAR_011257864 – 875Missing in APSX. 1 PublicationAdd BLAST12
Natural variantiVAR_001952866G → E in APSX; adult type. Corresponds to variant rs104886188dbSNPEnsembl.1
Natural variantiVAR_001953869G → R in APSX; juvenile type. 2 PublicationsCorresponds to variant rs104886189dbSNPEnsembl.1
Natural variantiVAR_001954872G → R in APSX. 1 PublicationCorresponds to variant rs104886190dbSNPEnsembl.1
Natural variantiVAR_008006878G → R in APSX. 1
Natural variantiVAR_011258898M → V in APSX; mild phenotype. 1 PublicationCorresponds to variant rs104886192dbSNPEnsembl.1
Natural variantiVAR_011259902G → V in APSX; juvenile type. 1 Publication1
Natural variantiVAR_011260911G → E in APSX. 1 PublicationCorresponds to variant rs104886363dbSNPEnsembl.1
Natural variantiVAR_011261941G → C in APSX. 1 PublicationCorresponds to variant rs104886196dbSNPEnsembl.1
Natural variantiVAR_001955942Missing in APSX. 1
Natural variantiVAR_011262947G → D in APSX. 1 PublicationCorresponds to variant rs104886370dbSNPEnsembl.1
Natural variantiVAR_011263953G → V in APSX; found on the same allele as variant Glu-1211. 1 PublicationCorresponds to variant rs78972735dbSNPEnsembl.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 rs104886202dbSNPEnsembl.1
Natural variantiVAR_0112661015G → E in APSX. 1
Natural variantiVAR_0112671015G → V in APSX. Corresponds to variant rs104886211dbSNPEnsembl.1
Natural variantiVAR_0112681030G → S in APSX. 1 PublicationCorresponds to variant rs104886210dbSNPEnsembl.1
Natural variantiVAR_0112691036G → V in APSX. Corresponds to variant rs104886212dbSNPEnsembl.1
Natural variantiVAR_0112701039G → S in APSX; juvenile type. Corresponds to variant rs104886214dbSNPEnsembl.1
Natural variantiVAR_0112711045G → E in APSX. 1 PublicationCorresponds to variant rs104886215dbSNPEnsembl.1
Natural variantiVAR_0112721066G → R in APSX. Corresponds to variant rs104886219dbSNPEnsembl.1
Natural variantiVAR_0112731066G → S in APSX. 1 PublicationCorresponds to variant rs104886219dbSNPEnsembl.1
Natural variantiVAR_0112741086G → D in APSX. 1 PublicationCorresponds to variant rs104886232dbSNPEnsembl.1
Natural variantiVAR_0019561104G → V in APSX. Corresponds to variant rs104886224dbSNPEnsembl.1
Natural variantiVAR_0080081107G → R in APSX. 1 PublicationCorresponds to variant rs104886225dbSNPEnsembl.1
Natural variantiVAR_0019571143G → D in APSX; juvenile type. 1 PublicationCorresponds to variant rs104886229dbSNPEnsembl.1
Natural variantiVAR_0019581143G → S in APSX; adult type. Corresponds to variant rs104886228dbSNPEnsembl.1
Natural variantiVAR_0112751158G → R in APSX. 1 Publication1
Natural variantiVAR_0080091161G → R in APSX. Corresponds to variant rs104886235dbSNPEnsembl.1
Natural variantiVAR_0112761167G → S in APSX. 1 PublicationCorresponds to variant rs104886236dbSNPEnsembl.1
Natural variantiVAR_0112771170G → S in APSX. 1 PublicationCorresponds to variant rs104886237dbSNPEnsembl.1
Natural variantiVAR_0019591182G → R in APSX; juvenile type. Corresponds to variant rs104886242dbSNPEnsembl.1
Natural variantiVAR_0112781196G → R in APSX. 1 PublicationCorresponds to variant rs104886244dbSNPEnsembl.1
Natural variantiVAR_0112791205G → C in APSX; juvenile type. Corresponds to variant rs104886245dbSNPEnsembl.1
Natural variantiVAR_0112801211G → E in APSX; found on the same allele as variant Val-953. Corresponds to variant rs104886247dbSNPEnsembl.1
Natural variantiVAR_0080101211G → R in APSX. Corresponds to variant rs104886246dbSNPEnsembl.1
Natural variantiVAR_0080111220G → D in APSX. Corresponds to variant rs104886251dbSNPEnsembl.1
Natural variantiVAR_0112811229G → D in APSX; adult type. 1 PublicationCorresponds to variant rs104886253dbSNPEnsembl.1
Natural variantiVAR_0019601241G → C in APSX. 1 PublicationCorresponds to variant rs104886255dbSNPEnsembl.1
Natural variantiVAR_0112821244G → D in APSX. 1 PublicationCorresponds to variant rs104886261dbSNPEnsembl.1
Natural variantiVAR_0112831252G → S in APSX; adult type. Corresponds to variant rs104886262dbSNPEnsembl.1
Natural variantiVAR_0112841261G → E in APSX. 1 PublicationCorresponds to variant rs104886264dbSNPEnsembl.1
Natural variantiVAR_0019611270G → S in APSX. Corresponds to variant rs104886257dbSNPEnsembl.1
Natural variantiVAR_0080121333G → S in APSX. Corresponds to variant rs104886266dbSNPEnsembl.1
Natural variantiVAR_0112851357G → S in APSX. 1 PublicationCorresponds to variant rs104886267dbSNPEnsembl.1
Natural variantiVAR_0019621379G → V in APSX; adult type. Corresponds to variant rs104886269dbSNPEnsembl.1
Natural variantiVAR_0019631410R → C in APSX; adult and juvenile types. 1 PublicationCorresponds to variant rs104886270dbSNPEnsembl.1
Natural variantiVAR_0019641421G → W in APSX; adult type. 1 PublicationCorresponds to variant rs104886272dbSNPEnsembl.1
Natural variantiVAR_0019651422R → C in APSX; juvenile type. Corresponds to variant rs144282156dbSNPEnsembl.1
Natural variantiVAR_0080131427G → V in APSX; adult type. Corresponds to variant rs104886274dbSNPEnsembl.1
Natural variantiVAR_0080141442G → D in APSX. Corresponds to variant rs104886277dbSNPEnsembl.1
Natural variantiVAR_0019661451G → S in APSX. Corresponds to variant rs104886280dbSNPEnsembl.1
Natural variantiVAR_0080151486G → A in APSX; adult type. Corresponds to variant rs104886282dbSNPEnsembl.1
Natural variantiVAR_0112871488S → F in APSX. Corresponds to variant rs104886283dbSNPEnsembl.1
Natural variantiVAR_0019671498A → D in APSX. 1 PublicationCorresponds to variant rs104886284dbSNPEnsembl.1
Natural variantiVAR_0112881511R → H in APSX; juvenile type; could be a non pathogenic variant. 1 PublicationCorresponds to variant rs104886285dbSNPEnsembl.1
Natural variantiVAR_0019681517P → T in APSX; juvenile type. 2 PublicationsCorresponds to variant rs201220208dbSNPEnsembl.1
Natural variantiVAR_0019691538W → S in APSX; adult type. 1 PublicationCorresponds to variant rs104886293dbSNPEnsembl.1
Natural variantiVAR_0019701563R → Q in APSX. 1 PublicationCorresponds to variant rs281874743dbSNPEnsembl.1
Natural variantiVAR_0019711564C → S in APSX; adult type. 1 PublicationCorresponds to variant rs104886287dbSNPEnsembl.1
Natural variantiVAR_0112891567C → R in APSX; juvenile type. Corresponds to variant rs104886288dbSNPEnsembl.1
Natural variantiVAR_0019721596G → D in APSX. 1 PublicationCorresponds to variant rs104886297dbSNPEnsembl.1
Natural variantiVAR_0195941597 – 1685Missing in APSX. 1 PublicationAdd BLAST89
Natural variantiVAR_0019731649L → R in APSX; adult type. 3 PublicationsCorresponds to variant rs104886303dbSNPEnsembl.1
Natural variantiVAR_0112901677R → P in APSX. 1 PublicationCorresponds to variant rs104886308dbSNPEnsembl.1
Natural variantiVAR_0019741677R → Q in APSX. 1 PublicationCorresponds to variant rs104886308dbSNPEnsembl.1
Natural variantiVAR_0112911678C → W in APSX. 1 PublicationCorresponds to variant rs104886311dbSNPEnsembl.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.
MalaCardsiCOL4A5.
MIMi301050. phenotype.
OpenTargetsiENSG00000188153.
Orphaneti88917. 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...)Sequence 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.
PeptideAtlasiP29400.
PRIDEiP29400.

PTM databases

iPTMnetiP29400.
PhosphoSitePlusiP29400.

Expressioni

Tissue specificityi

Isoform 2 is found in kidney.

Gene expression databases

BgeeiENSG00000188153.
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. 22 interactors.
IntActiP29400. 19 interactors.
MINTiMINT-1388512.

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
Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

GeneTreeiENSGT00840000129673.
HOGENOMiHOG000085652.
HOVERGENiHBG004933.
InParanoidiP29400.
KOiK06237.
OMAiEICEPGP.
OrthoDBiEOG091G0613.
TreeFamiTF344135.

Family and domain databases

Gene3Di2.170.240.10. 1 hit.
InterProiIPR008160. Collagen.
IPR001442. Collagen_VI_NC.
IPR016187. CTDL_fold.
[Graphical view]
PfamiPF01413. C4. 2 hits.
PF01391. Collagen. 20 hits.
[Graphical view]
SMARTiSM00111. C4. 2 hits.
[Graphical view]
SUPFAMiSSF56436. SSF56436. 2 hits.
PROSITEiPS51403. NC1_IV. 1 hit.
[Graphical view]

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

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

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 rs104886043dbSNPEnsembl.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 rs281874723dbSNPEnsembl.1
Natural variantiVAR_001916129G → V in APSX; juvenile type. Corresponds to variant rs281874723dbSNPEnsembl.1
Natural variantiVAR_001917174G → R in APSX. 1 PublicationCorresponds to variant rs104886055dbSNPEnsembl.1
Natural variantiVAR_011220177G → C in APSX; presenting with dot-and-fleck retinopathy. 1 PublicationCorresponds to variant rs104886056dbSNPEnsembl.1
Natural variantiVAR_001918177G → R in APSX; adult type. 1 PublicationCorresponds to variant rs104886056dbSNPEnsembl.1
Natural variantiVAR_011221192G → R in APSX. 1 PublicationCorresponds to variant rs104886060dbSNPEnsembl.1
Natural variantiVAR_011222204G → V in APSX; juvenile type. Corresponds to variant rs104886063dbSNPEnsembl.1
Natural variantiVAR_001919216G → R in APSX; juvenile type. 1 PublicationCorresponds to variant rs104886067dbSNPEnsembl.1
Natural variantiVAR_001920219G → S in APSX. Corresponds to variant rs104886075dbSNPEnsembl.1
Natural variantiVAR_011223230G → R in APSX; juvenile type. Corresponds to variant rs104886076dbSNPEnsembl.1
Natural variantiVAR_011224239G → E in APSX. Corresponds to variant rs104886068dbSNPEnsembl.1
Natural variantiVAR_011225264G → R in APSX; adult type. Corresponds to variant rs104886069dbSNPEnsembl.1
Natural variantiVAR_001921289G → V in APSX; juvenile type. Corresponds to variant rs104886450dbSNPEnsembl.1
Natural variantiVAR_011226292G → R in APSX. 1 PublicationCorresponds to variant rs104886073dbSNPEnsembl.1
Natural variantiVAR_001922292G → V in APSX; juvenile type. Corresponds to variant rs104886078dbSNPEnsembl.1
Natural variantiVAR_011227295G → D in APSX. 1 PublicationCorresponds to variant rs104886079dbSNPEnsembl.1
Natural variantiVAR_011228298G → S in APSX. Corresponds to variant rs104886080dbSNPEnsembl.1
Natural variantiVAR_011229319G → R in APSX; juvenile type. 1 PublicationCorresponds to variant rs104886085dbSNPEnsembl.1
Natural variantiVAR_001923325G → E in APSX. 1 PublicationCorresponds to variant rs104886091dbSNPEnsembl.1
Natural variantiVAR_001924325G → R in APSX; juvenile and adult types. 3 PublicationsCorresponds to variant rs104886088dbSNPEnsembl.1
Natural variantiVAR_007992331G → V in APSX. Corresponds to variant rs104886092dbSNPEnsembl.1
Natural variantiVAR_001926365 – 367Missing in APSX; juvenile type. 3
Natural variantiVAR_001925365G → E in APSX; juvenile type. Corresponds to variant rs104886096dbSNPEnsembl.1
Natural variantiVAR_001927371G → E in APSX; juvenile type. Corresponds to variant rs104886097dbSNPEnsembl.1
Natural variantiVAR_001928374G → A in APSX. Corresponds to variant rs104886108dbSNPEnsembl.1
Natural variantiVAR_001929383G → D in APSX; juvenile type. Corresponds to variant rs104886105dbSNPEnsembl.1
Natural variantiVAR_001930400G → E in APSX; adult type. 1 PublicationCorresponds to variant rs104886107dbSNPEnsembl.1
Natural variantiVAR_001931406G → V in APSX; adult type. 1 PublicationCorresponds to variant rs104886100dbSNPEnsembl.1
Natural variantiVAR_001932409G → D in APSX. Corresponds to variant rs104886101dbSNPEnsembl.1
Natural variantiVAR_011230412G → V in APSX; adult type. Corresponds to variant rs104886102dbSNPEnsembl.1
Natural variantiVAR_011231415G → R in APSX. 1 PublicationCorresponds to variant rs104886103dbSNPEnsembl.1
Natural variantiVAR_011232420G → E in APSX; juvenile type. Corresponds to variant rs281874663dbSNPEnsembl.1
Natural variantiVAR_011233420G → V in APSX. 1 Publication1
Natural variantiVAR_011234423G → E in APSX. Corresponds to variant rs104886110dbSNPEnsembl.1
Natural variantiVAR_001933430A → D.1 PublicationCorresponds to variant rs142883891dbSNPEnsembl.1
Natural variantiVAR_001934444I → S.3 PublicationsCorresponds to variant rs2272946dbSNPEnsembl.1
Natural variantiVAR_001935456 – 458Missing in APSX. 1 Publication3
Natural variantiVAR_001936466G → E in APSX. Corresponds to variant rs104886114dbSNPEnsembl.1
Natural variantiVAR_007993472G → R in APSX. Corresponds to variant rs104886116dbSNPEnsembl.1
Natural variantiVAR_011235491G → E in APSX; juvenile type. Corresponds to variant rs104886117dbSNPEnsembl.1
Natural variantiVAR_001937494G → D in APSX; adult type. Corresponds to variant rs104886118dbSNPEnsembl.1
Natural variantiVAR_001938496 – 507Missing in APSX; juvenile type. Add BLAST12
Natural variantiVAR_011236497G → C in APSX; adult type. Corresponds to variant rs104886120dbSNPEnsembl.1
Natural variantiVAR_001939521G → C in APSX. 1 PublicationCorresponds to variant rs104886121dbSNPEnsembl.1
Natural variantiVAR_001940521G → S in APSX. 1
Natural variantiVAR_011237524G → D in APSX; adult type. Corresponds to variant rs104886119dbSNPEnsembl.1
Natural variantiVAR_007994545G → R in APSX. Corresponds to variant rs104886126dbSNPEnsembl.1
Natural variantiVAR_007995545G → V in APSX. Corresponds to variant rs104886127dbSNPEnsembl.1
Natural variantiVAR_011238558G → R in APSX. 1 PublicationCorresponds to variant rs104886129dbSNPEnsembl.1
Natural variantiVAR_007996561G → R in APSX. Corresponds to variant rs104886136dbSNPEnsembl.1
Natural variantiVAR_001941567G → A in APSX; juvenile type. Corresponds to variant rs104886137dbSNPEnsembl.1
Natural variantiVAR_011239573G → D in APSX. 1 PublicationCorresponds to variant rs104886138dbSNPEnsembl.1
Natural variantiVAR_011240579G → E in APSX. 1 PublicationCorresponds to variant rs104886130dbSNPEnsembl.1
Natural variantiVAR_007997579G → R in APSX; adult type. Corresponds to variant rs104886139dbSNPEnsembl.1
Natural variantiVAR_011241603G → V in APSX. 1 PublicationCorresponds to variant rs104886133dbSNPEnsembl.1
Natural variantiVAR_011242609G → R in APSX; juvenile type. Corresponds to variant rs104886135dbSNPEnsembl.1
Natural variantiVAR_001942609G → V in APSX; juvenile type. Corresponds to variant rs104886140dbSNPEnsembl.1
Natural variantiVAR_011243619P → S.1 Publication1
Natural variantiVAR_011244621G → C in APSX. Corresponds to variant rs104886141dbSNPEnsembl.1
Natural variantiVAR_011245624G → D in APSX. 2 PublicationsCorresponds to variant rs104886142dbSNPEnsembl.1
Natural variantiVAR_011246629G → D in APSX. 1 PublicationCorresponds to variant rs104886144dbSNPEnsembl.1
Natural variantiVAR_011247632G → D in APSX. Corresponds to variant rs104886145dbSNPEnsembl.1
Natural variantiVAR_011248633E → K in APSX. 1 PublicationCorresponds to variant rs104886146dbSNPEnsembl.1
Natural variantiVAR_007998635G → D in APSX. 1 PublicationCorresponds to variant rs281874683dbSNPEnsembl.1
Natural variantiVAR_001944638G → A in APSX. 1 PublicationCorresponds to variant rs104886134dbSNPEnsembl.1
Natural variantiVAR_007999638G → S in APSX; juvenile type. Corresponds to variant rs104886147dbSNPEnsembl.1
Natural variantiVAR_001943638G → V in APSX. 1 PublicationCorresponds to variant rs104886134dbSNPEnsembl.1
Natural variantiVAR_001945653G → R in APSX; juvenile type. 1 PublicationCorresponds to variant rs104886150dbSNPEnsembl.1
Natural variantiVAR_001946664K → N.1 PublicationCorresponds to variant rs34077552dbSNPEnsembl.1
Natural variantiVAR_008000669G → A in APSX; juvenile type. Corresponds to variant rs104886151dbSNPEnsembl.1
Natural variantiVAR_011249681G → D in APSX. Corresponds to variant rs104886158dbSNPEnsembl.1
Natural variantiVAR_001947684G → V in APSX; adult type. Corresponds to variant rs104886160dbSNPEnsembl.1
Natural variantiVAR_008001687G → E in APSX. Corresponds to variant rs104886168dbSNPEnsembl.1
Natural variantiVAR_011250722G → E in APSX. 1 PublicationCorresponds to variant rs104886163dbSNPEnsembl.1
Natural variantiVAR_011251739P → A.1 PublicationCorresponds to variant rs104886164dbSNPEnsembl.1
Natural variantiVAR_011252739P → S in APSX; juvenile type. 1 PublicationCorresponds to variant rs104886164dbSNPEnsembl.1
Natural variantiVAR_001948740G → E in APSX; juvenile type. Corresponds to variant rs104886165dbSNPEnsembl.1
Natural variantiVAR_008002743G → D in APSX. Corresponds to variant rs104886166dbSNPEnsembl.1
Natural variantiVAR_001949772G → D in APSX; juvenile type. Corresponds to variant rs104886173dbSNPEnsembl.1
Natural variantiVAR_001950796G → R in APSX. 1 PublicationCorresponds to variant rs104886177dbSNPEnsembl.1
Natural variantiVAR_011254802 – 807Missing in APSX. 1 Publication6
Natural variantiVAR_011253802G → R in APSX. Corresponds to variant rs104886179dbSNPEnsembl.1
Natural variantiVAR_008003808G → E in APSX; adult type. Corresponds to variant rs104886180dbSNPEnsembl.1
Natural variantiVAR_011255811G → V in APSX; juvenile type. Corresponds to variant rs104886183dbSNPEnsembl.1
Natural variantiVAR_008004822 – 824Missing in APSX. 3
Natural variantiVAR_011256822G → R in APSX. 1 PublicationCorresponds to variant rs104886184dbSNPEnsembl.1
Natural variantiVAR_008005852G → E in APSX; juvenile type. Corresponds to variant rs104886187dbSNPEnsembl.1
Natural variantiVAR_001951852G → R in APSX. Corresponds to variant rs104886186dbSNPEnsembl.1
Natural variantiVAR_011257864 – 875Missing in APSX. 1 PublicationAdd BLAST12
Natural variantiVAR_001952866G → E in APSX; adult type. Corresponds to variant rs104886188dbSNPEnsembl.1
Natural variantiVAR_001953869G → R in APSX; juvenile type. 2 PublicationsCorresponds to variant rs104886189dbSNPEnsembl.1
Natural variantiVAR_001954872G → R in APSX. 1 PublicationCorresponds to variant rs104886190dbSNPEnsembl.1
Natural variantiVAR_008006878G → R in APSX. 1
Natural variantiVAR_011258898M → V in APSX; mild phenotype. 1 PublicationCorresponds to variant rs104886192dbSNPEnsembl.1
Natural variantiVAR_011259902G → V in APSX; juvenile type. 1 Publication1
Natural variantiVAR_011260911G → E in APSX. 1 PublicationCorresponds to variant rs104886363dbSNPEnsembl.1
Natural variantiVAR_011261941G → C in APSX. 1 PublicationCorresponds to variant rs104886196dbSNPEnsembl.1
Natural variantiVAR_001955942Missing in APSX. 1
Natural variantiVAR_011262947G → D in APSX. 1 PublicationCorresponds to variant rs104886370dbSNPEnsembl.1
Natural variantiVAR_011263953G → V in APSX; found on the same allele as variant Glu-1211. 1 PublicationCorresponds to variant rs78972735dbSNPEnsembl.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 rs104886202dbSNPEnsembl.1
Natural variantiVAR_0112661015G → E in APSX. 1
Natural variantiVAR_0112671015G → V in APSX. Corresponds to variant rs104886211dbSNPEnsembl.1
Natural variantiVAR_0112681030G → S in APSX. 1 PublicationCorresponds to variant rs104886210dbSNPEnsembl.1
Natural variantiVAR_0112691036G → V in APSX. Corresponds to variant rs104886212dbSNPEnsembl.1
Natural variantiVAR_0112701039G → S in APSX; juvenile type. Corresponds to variant rs104886214dbSNPEnsembl.1
Natural variantiVAR_0112711045G → E in APSX. 1 PublicationCorresponds to variant rs104886215dbSNPEnsembl.1
Natural variantiVAR_0112721066G → R in APSX. Corresponds to variant rs104886219dbSNPEnsembl.1
Natural variantiVAR_0112731066G → S in APSX. 1 PublicationCorresponds to variant rs104886219dbSNPEnsembl.1
Natural variantiVAR_0112741086G → D in APSX. 1 PublicationCorresponds to variant rs104886232dbSNPEnsembl.1
Natural variantiVAR_0019561104G → V in APSX. Corresponds to variant rs104886224dbSNPEnsembl.1
Natural variantiVAR_0080081107G → R in APSX. 1 PublicationCorresponds to variant rs104886225dbSNPEnsembl.1
Natural variantiVAR_0019571143G → D in APSX; juvenile type. 1 PublicationCorresponds to variant rs104886229dbSNPEnsembl.1
Natural variantiVAR_0019581143G → S in APSX; adult type. Corresponds to variant rs104886228dbSNPEnsembl.1
Natural variantiVAR_0112751158G → R in APSX. 1 Publication1
Natural variantiVAR_0080091161G → R in APSX. Corresponds to variant rs104886235dbSNPEnsembl.1
Natural variantiVAR_0112761167G → S in APSX. 1 PublicationCorresponds to variant rs104886236dbSNPEnsembl.1
Natural variantiVAR_0112771170G → S in APSX. 1 PublicationCorresponds to variant rs104886237dbSNPEnsembl.1
Natural variantiVAR_0019591182G → R in APSX; juvenile type. Corresponds to variant rs104886242dbSNPEnsembl.1
Natural variantiVAR_0112781196G → R in APSX. 1 PublicationCorresponds to variant rs104886244dbSNPEnsembl.1
Natural variantiVAR_0112791205G → C in APSX; juvenile type. Corresponds to variant rs104886245dbSNPEnsembl.1
Natural variantiVAR_0112801211G → E in APSX; found on the same allele as variant Val-953. Corresponds to variant rs104886247dbSNPEnsembl.1
Natural variantiVAR_0080101211G → R in APSX. Corresponds to variant rs104886246dbSNPEnsembl.1
Natural variantiVAR_0080111220G → D in APSX. Corresponds to variant rs104886251dbSNPEnsembl.1
Natural variantiVAR_0112811229G → D in APSX; adult type. 1 PublicationCorresponds to variant rs104886253dbSNPEnsembl.1
Natural variantiVAR_0019601241G → C in APSX. 1 PublicationCorresponds to variant rs104886255dbSNPEnsembl.1
Natural variantiVAR_0112821244G → D in APSX. 1 PublicationCorresponds to variant rs104886261dbSNPEnsembl.1
Natural variantiVAR_0112831252G → S in APSX; adult type. Corresponds to variant rs104886262dbSNPEnsembl.1
Natural variantiVAR_0112841261G → E in APSX. 1 PublicationCorresponds to variant rs104886264dbSNPEnsembl.1
Natural variantiVAR_0019611270G → S in APSX. Corresponds to variant rs104886257dbSNPEnsembl.1
Natural variantiVAR_0080121333G → S in APSX. Corresponds to variant rs104886266dbSNPEnsembl.1
Natural variantiVAR_0112851357G → S in APSX. 1 PublicationCorresponds to variant rs104886267dbSNPEnsembl.1
Natural variantiVAR_0019621379G → V in APSX; adult type. Corresponds to variant rs104886269dbSNPEnsembl.1
Natural variantiVAR_0019631410R → C in APSX; adult and juvenile types. 1 PublicationCorresponds to variant rs104886270dbSNPEnsembl.1
Natural variantiVAR_0019641421G → W in APSX; adult type. 1 PublicationCorresponds to variant rs104886272dbSNPEnsembl.1
Natural variantiVAR_0019651422R → C in APSX; juvenile type. Corresponds to variant rs144282156dbSNPEnsembl.1
Natural variantiVAR_0080131427G → V in APSX; adult type. Corresponds to variant rs104886274dbSNPEnsembl.1
Natural variantiVAR_0112861428L → M.1 Publication1
Natural variantiVAR_0080141442G → D in APSX. Corresponds to variant rs104886277dbSNPEnsembl.1
Natural variantiVAR_0019661451G → S in APSX. Corresponds to variant rs104886280dbSNPEnsembl.1
Natural variantiVAR_0080151486G → A in APSX; adult type. Corresponds to variant rs104886282dbSNPEnsembl.1
Natural variantiVAR_0112871488S → F in APSX. Corresponds to variant rs104886283dbSNPEnsembl.1
Natural variantiVAR_0019671498A → D in APSX. 1 PublicationCorresponds to variant rs104886284dbSNPEnsembl.1
Natural variantiVAR_0112881511R → H in APSX; juvenile type; could be a non pathogenic variant. 1 PublicationCorresponds to variant rs104886285dbSNPEnsembl.1
Natural variantiVAR_0019681517P → T in APSX; juvenile type. 2 PublicationsCorresponds to variant rs201220208dbSNPEnsembl.1
Natural variantiVAR_0019691538W → S in APSX; adult type. 1 PublicationCorresponds to variant rs104886293dbSNPEnsembl.1
Natural variantiVAR_0080161559P → A.Corresponds to variant rs104886295dbSNPEnsembl.1
Natural variantiVAR_0019701563R → Q in APSX. 1 PublicationCorresponds to variant rs281874743dbSNPEnsembl.1
Natural variantiVAR_0019711564C → S in APSX; adult type. 1 PublicationCorresponds to variant rs104886287dbSNPEnsembl.1
Natural variantiVAR_0112891567C → R in APSX; juvenile type. Corresponds to variant rs104886288dbSNPEnsembl.1
Natural variantiVAR_0019721596G → D in APSX. 1 PublicationCorresponds to variant rs104886297dbSNPEnsembl.1
Natural variantiVAR_0195941597 – 1685Missing in APSX. 1 PublicationAdd BLAST89
Natural variantiVAR_0019731649L → R in APSX; adult type. 3 PublicationsCorresponds to variant rs104886303dbSNPEnsembl.1
Natural variantiVAR_0112901677R → P in APSX. 1 PublicationCorresponds to variant rs104886308dbSNPEnsembl.1
Natural variantiVAR_0019741677R → Q in APSX. 1 PublicationCorresponds to variant rs104886308dbSNPEnsembl.1
Natural variantiVAR_0112911678C → W in APSX. 1 PublicationCorresponds to variant rs104886311dbSNPEnsembl.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, AL031622, AL035425 Genomic DNA. Translation: CAA22267.2.
AL035425, AL031622, AL034369 Genomic DNA. Translation: CAB90289.2.
AL031622, AL034369, AL035425 Genomic DNA. Translation: CAI43038.1.
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

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, AL031622, AL035425 Genomic DNA. Translation: CAA22267.2.
AL035425, AL031622, AL034369 Genomic DNA. Translation: CAB90289.2.
AL031622, AL034369, AL035425 Genomic DNA. Translation: CAI43038.1.
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

ProteinModelPortaliP29400.
SMRiP29400.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107684. 22 interactors.
IntActiP29400. 19 interactors.
MINTiMINT-1388512.

Chemistry databases

ChEMBLiCHEMBL2364188.

PTM databases

iPTMnetiP29400.
PhosphoSitePlusiP29400.

Polymorphism and mutation databases

BioMutaiCOL4A5.
DMDMi461675.

Proteomic databases

EPDiP29400.
MaxQBiP29400.
PeptideAtlasiP29400.
PRIDEiP29400.

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.
GeneCardsiCOL4A5.
GeneReviewsiCOL4A5.
H-InvDBHIX0028371.
HGNCiHGNC:2207. COL4A5.
HPAiHPA065449.
MalaCardsiCOL4A5.
MIMi301050. phenotype.
303630. gene.
neXtProtiNX_P29400.
OpenTargetsiENSG00000188153.
Orphaneti88917. X-linked Alport syndrome.
1018. X-linked diffuse leiomyomatosis - Alport syndrome.
PharmGKBiPA26722.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00840000129673.
HOGENOMiHOG000085652.
HOVERGENiHBG004933.
InParanoidiP29400.
KOiK06237.
OMAiEICEPGP.
OrthoDBiEOG091G0613.
TreeFamiTF344135.

Enzyme and pathway databases

BioCyciZFISH:G66-32311-MONOMER.
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-3000157. Laminin interactions.
R-HSA-3000171. Non-integrin membrane-ECM interactions.
R-HSA-3000178. ECM proteoglycans.
R-HSA-419037. NCAM1 interactions.

Miscellaneous databases

GeneWikiiCOL4A5.
GenomeRNAii1287.
PROiP29400.
SOURCEiSearch...

Gene expression databases