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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu19786 NM_130445 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu19882 NM_030582 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu19786C NM_130445 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 2, mRNA. Customized vector On-demand TBD $1699.00
OHu19882C NM_030582 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. Customized vector On-demand TBD $2699.00

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Gene Symbol COL18A1
Entrez Gene ID 80781
Full Name collagen, type XVIII, alpha 1
Synonyms KNO, KNO1, KS
General protein information
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, Sep 2008].
Disorder

MIM: 120328

Knobloch syndrome, type 1, 267750 (3)

mRNA Protein Product Sequence Price Select
NM_030582, 110611234 NP_085059, 110611235 collagen alpha-1(XVIII) chain isoform 1 precursor ORF Sequence $2500.00
NM_130445, 110611232 NP_569712, 110611233 collagen alpha-1(XVIII) chain isoform 2 precursor ORF Sequence $1500.00
KEGG
hsa04974Protein digestion and absorption
Pathway Interaction Database
p53downstreampathwayDirect p53 effectors
hnf3apathwayFOXA1 transcription factor network
Reactome
REACT_13552Integrin cell surface interactions
REACT_118572Degradation of the extracellular matrix
REACT_118779Extracellular matrix organization
REACT_118682Activation of Matrix Metalloproteinases
REACT_120729Collagen formation
REACT_121139Collagen biosynthesis and modifying enzymes
REACT_150180Assembly of collagen fibrils and other multimeric structures
REACT_150401Collagen degradation
REACT_169262Laminin interactions
Homo sapiens (human)COL18A1NP_085059.2
Pan troglodytes (chimpanzee)COL18A1XP_531500.4
Macaca mulatta (Rhesus monkey)COL18A1XP_002803149.1
Mus musculus (house mouse)Col18a1NP_001103461.1
Rattus norvegicus (Norway rat)Col18a1NP_445941.2
Gallus gallus (chicken)COL18A1NP_989495.1
Xenopus (Silurana) tropicalis (western clawed frog)col18a1NP_989236.1
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:0022617extracellular matrix disassemblyTAS
GO:0030198extracellular matrix organizationTAS
GO:0030335positive regulation of cell migrationIEA
GO:0030574collagen catabolic processTAS
GO:0042493response to drugIEA
GO:0051599response to hydrostatic pressureIEA
GO:2000353positive regulation of endothelial cell apoptotic processIEA
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005581collagen trimerIEA
GO:0005604basement membraneIEA
GO:0005615extracellular spaceIDA
GO:0005788endoplasmic reticulum lumenTAS
GO:0031012extracellular matrixIDA
GO:0031012extracellular matrixTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005198structural molecule activityIEA
GO:0005515protein bindingIPI
GO:0042802identical protein bindingIPI
GO:0046872metal ion bindingIEA
GeneCards COL18A1
UniProt D3DSM5, P39060, D3DSM4
Vega OTTHUMG00000090407
MIM 120328
Ensembl ENSG00000182871
HGNC 2195
HPRD 00382

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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