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COL18A1 collagen, type XVIII, alpha 1 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_030582 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. Full Length $2659.50
ORF Sequence $1592.85
NM_130445 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 2, mRNA. Full Length $2429.10
ORF Sequence $1403.85


Gene Symbol COL18A1
Entrez Gene ID 80781
Full Name collagen, type XVIII, alpha 1
Synonyms FLJ27325, FLJ34914, KNO, KNO1, KS, MGC74745
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

21

21q22.3
Summary This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].
Disorder

MIM: 120328

Knobloch syndrome, type 1, 267750 (3)
mRNA NM_030582, 110611234
Protein NP_085059, 110611235
Product collagen alpha-1(XVIII) chain isoform 1 precursor
RefSeq Status REVIEWED
mRNA NM_130445, 110611232
Protein NP_569712, 110611233
Product collagen alpha-1(XVIII) chain isoform 2 precursor
RefSeq Status REVIEWED
KEGG
hsa04974Protein digestion and absorption
Pathway Interaction Database
p53downstreampathwayDirect p53 effectors
hnf3apathwayFOXA1 transcription factor network
Homo sapiens (human)COL18A1NP_569711.2
Pan troglodytes (chimpanzee)COL18A1XP_531500.2
Bos taurus (cattle)COL18A1NP_001076857.1
Mus musculus (house mouse)Col18a1NP_034059.2
Rattus norvegicus (Norway rat)Col18a1XP_241632.4
Gallus gallus (chicken)COL18A1NP_989495.1
Danio rerio (zebrafish)col15a1aNP_001073560.1
Process
IDNameEvidence
GO:0001525angiogenesisIEA
GO:0001886endothelial cell morphogenesisIEA
GO:0007155cell adhesionIEA
GO:0007601visual perceptionTAS
GO:0008284positive regulation of cell proliferationIEA
GO:0008285negative regulation of cell proliferationTAS
GO:0009887organ morphogenesisTAS
GO:0030198extracellular matrix organizationIEA
GO:0030335positive regulation of cell migrationIEA
GO:0043065positive regulation of apoptosisIEA
Component
IDNameEvidence
GO:0005576extracellular regionIEA
GO:0005581collagenIEA
GO:0005604basement membraneIEA
GO:0005615extracellular spaceIDA
GO:0031012extracellular matrixIDA
Function
IDNameEvidence
GO:0005201extracellular matrix structural constituentIEA
GO:0005515protein bindingIPI
GO:0046872metal ion bindingIEA
GeneCards COL18A1
PDB 3HSH, 1BNL, 3HON
UniProt D3DSM5, P39060, D3DSM4
MIM 120328
Ensembl ENSG00000182871
HGNC 2195
HPRD 00382

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