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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_030582 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_130445 Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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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, 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
hnf3apathwayFOXA1 transcription factor network
p53downstreampathwayDirect p53 effectors
Reactome
REACT_121139Collagen biosynthesis and modifying enzymes
REACT_118572Degradation of the extracellular matrix
REACT_118779Extracellular matrix organization
REACT_120729Collagen formation
REACT_118682Activation of Matrix Metalloproteinases
Homo sapiens (human)COL18A1NP_085059.2
Pan troglodytes (chimpanzee)COL18A1XP_531500.4
Macaca mulatta (Rhesus monkey)COL18A1XP_002803149.1
Canis lupus familiaris (dog)COL18A1XP_003640142.1
Bos taurus (cattle)COL18A1NP_001076857.1
Mus musculus (house mouse)Col18a1NP_001103461.1
Rattus norvegicus (Norway rat)Col18a1XP_241632.5
Gallus gallus (chicken)COL18A1NP_989495.1
Danio rerio (zebrafish)col15a1bNP_001165841.2
Drosophila melanogaster (fruit fly)mpNP_001163358.1
GeneCards COL18A1
PDB 3HSH, 1BNL, 3HON
UniProt D3DSM5, P39060, D3DSM4
MIM 120328
Ensembl ENSG00000182871
HGNC 2195
HPRD 00382

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

General protein information

Interactant



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