TAG for COL18A1

Gene content

Symbol

COL18A1 ( by HUGO)

Name

Collagen, Type XVIII, Alpha 1

Category

Tumor suppressor gene

Alias

Collagen
Type XVIII
Alpha 1
KNO
endostatin
KNO1
Knobloch Syndrome
Type 1
Human Type XVIII Collagen
KS
Antiangiogenic Agent
Collagen Alpha-1(XVIII) Chain
Multi-Functional Protein MFP

Cytogenetic band

NCBI: 21q22.3 Ensembl: 21q22.3

Protein information

COIA1_HUMAN

Size: 1754 amino acids

Mass: 178188 Da

Tissue specificity: Present in multiple organs with highest levels in liver, lung and kidney [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including COL18A1: Endothelial Cell Biology in human mouse rat Angiogenic Growth Factors in human mouse rat Apoptosis 384HT

Function:

UniProtKB/Swiss-Prot Summary: COIA1_HUMAN, P39060 Function: COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube Function: Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling

Similarity:

Belongs to the multiplexin collagen family

Contains 1 FZ (frizzled) domain

Contains 1 laminin G-like domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR001791	Laminin_G	Laminin G	Domain
	IPR008160	Collagen	Collagen triple helix repeat	Repeat
	IPR008985	ConA-like_lec_gl_sf	Concanavalin A-like lectin/glucanase	Domain
	IPR010363	DUF959_COL18_N	Protein of unknown function DUF959, collagen XVIII, N-terminal	Domain
	IPR010515	Collagenase_NC10/endostatin	Collagenase NC10 and endostatin	Domain
Blocks	IPB001791	Laminin G	Laminin G
	IPB003129	Thrombospondin	Thrombospondin, N-terminal
	IPB008160	Collagen triple helix repeat	Collagen triple helix repeat
	IPB010515	Collagenase NC10 and endostatin	Collagenase NC10 and endostatin

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	negative regulation of cell proliferation	TAS	GOA	9008168
	organ morphogenesis	TAS	GOA	10942434
	visual perception	TAS	GOA	10942434
Cellular Component	extracellular vesicular exosome	IDA	GOA	19056867
Molecular Function	identical protein binding	IPI	GOA	16269408
Molecular Function	protein binding	IPI	GOA	17615292

Disorder & Mutation
Source	Disease
SWISS-PROT	Knobloch syndrome 1 (KNO1) [MIM:267750]: A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia. Note=The disease is caused by mutations affecting the gene represented in this entry

COL18A1 cross reference