|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
Collagen type IV alpha-1 chain
Basement membrane-specific heparan sulfate proteoglycan core protein alpha-1 chain
|
|
gptkbp:associatedWith
|
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome
COL4A1-related disorders
Porencephaly
|
|
gptkbp:EC_number
|
nan
|
|
gptkbp:Entrez_Gene_ID
|
1282
ENSG00000134871
|
|
gptkbp:function
|
Structural component of basement membranes
|
|
gptkbp:gene
|
gptkb:COL4A1
|
|
gptkbp:hasGeneCardsID
|
gptkb:COL4A1
|
|
gptkbp:hasPfamDomain
|
PF01391
|
|
gptkbp:hasRefSeqID
|
NP_001836.2
|
|
gptkbp:HGNC_ID
|
2211
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
P02458
|
|
gptkbp:InterPro
|
IPR001442
|
|
gptkbp:KEGGID
|
hsa:1282
|
|
gptkbp:locatedOnChromosome
|
13
|
|
gptkbp:molecularWeight
|
185 kDa
|
|
gptkbp:OMIM
|
120130
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:partOf
|
Type IV collagen network
|
|
gptkbp:PDB
|
1LI1
5NAZ
6FZV
|
|
gptkbp:postTranslationalModification
|
Glycosylation
Hydroxylation
|
|
gptkbp:Reactome
|
R-HSA-2022090
|
|
gptkbp:reviewedBy
|
true
|
|
gptkbp:sequence
|
1669
|
|
gptkbp:subcellularLocation
|
Basement membrane
|
|
gptkbp:UniProt_entry_name
|
Collagen alpha-1(IV) chain
|
|
gptkbp:UniProtID
|
gptkb:P02458
|
|
gptkbp:bfsParent
|
gptkb:COL2A1_gene
gptkb:Type_II_collagen
|
|
gptkbp:bfsLayer
|
7
|