COL18A1 collagen, type XVIII, alpha 1 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: COL18A1provided by HGNC
Official Full Name: collagen, type XVIII, alpha 1provided by HGNC
Primary source: HGNC:2195
See related: Ensembl:ENSG00000182871; HPRD:00382; MIM:120328; Vega:OTTHUMG00000090407
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KS; KNO; KNO1; FLJ27325; FLJ34914; MGC74745
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]

Help top of page

Genomic context

Location :: 21q22.3

Sequence :: Chromosome: 21; NC_000021.8 (46825097..46933634)

See COL18A1 in Epigenomics, MapViewer

Chromosome 21 - NC_000021.8 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

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

Peripheral blood osteopontin (OPN) and endostatin (END) levels were studied in 35 patients with adrenal cortex tumors and 10 patients with pheochromocytoma before unilateral adrenalectomy, as well as in 10 healthy subjects (controls).
Title: Osteopontin and endostatin concentrations in peripheral blood of patients with adrenal tumors undergoing unilateral adrenalectomy.
The mRNA expression of VEGF and bFGF, the protein expression of VEGF, bFGF, and ES and microvessel density (MVD) are increased both in the uraemic predialysis and peritoneal dialysis patients.
Title: Effect of peritoneal dialysis on expression of vascular endothelial growth factor, basic fibroblast growth factor and endostatin of the peritoneum in peritoneal dialysis patients.
Endostatin induces autophagy in endothelial cells by modulating Beclin 1 and beta-catenin levels
Title: Endostatin induces autophagy in endothelial cells by modulating Beclin 1 and beta-catenin levels.
Cysteine cathepsins S and L modulate anti-angiogenic activities of human endostatin.
Title: Cysteine cathepsins S and L modulate anti-angiogenic activities of human endostatin.
Endostatin can effectively inhibit rat peritoneum neoangiogenesis and the effect was dose-dependent.
Title: Effects of recombinant human endostatin on peritoneal angiogenesis in peritoneal dialysis rats.
The aim of the study was to evaluate and compare the circulating concentrations of OPN, E-selectin and END of severely obese patients with metabolic syndrome before and after vertical banded gastroplasty.
Title: Systemic blood osteopontin, endostatin, and E-selectin concentrations after vertical banding surgery in severely obese adults.
Common polymorphisms in four candidate genes (COL11A1, COL18A1, FBN1 and PLOD1) were unlikely to play important roles in the genetic susceptibility to high myopia.
Title: A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population.
Microdeformations produced by the combination of polyurethane foam and suction are associated with increased fibroblast proliferation and up-regulation of gene expressions in fibroblasts
Title: Microdeformation of three-dimensional cultured fibroblasts induces gene expression and morphological changes.
Lack of collagen XVIII long isoforms affects kidney podocytes, whereas the short form is needed in the proximal tubular basement membrane
Title: Lack of collagen XVIII long isoforms affects kidney podocytes, whereas the short form is needed in the proximal tubular basement membrane.
Data show that hypertriglyceridemia occurs in Knobloch patients lacking the vascular form of Col18.
Title: Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans.

Submit: New GeneRIF Correction See all (92)

Help top of page

Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
P39060	P07711	CTSL1	HPRD	PubMed
P39060	P98095	FBLN2	HPRD	PubMed
P39060	P35052	GPC1	HPRD	PubMed
P39060	O75487	GPC4	HPRD	PubMed
P39060	P08648	ITGA5	HPRD	PubMed
P39060	P35968	KDR	HPRD	PubMed
P39060	P08253	MMP2	HPRD	PubMed
BioGRID:123311	BioGRID:109992	KDR	BioGRID	PubMed	Reconstituted Complex
BioGRID:123311	BioGRID:117375	TECPR1	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell adhesion	IEA Inferred from Electronic Annotation more info
negative regulation of cell proliferation	TAS Traceable Author Statement more info	PubMed
organ morphogenesis	TAS Traceable Author Statement more info	PubMed
visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
collagen	IEA Inferred from Electronic Annotation more info
colocalizes_with extracellular matrix	IDA Inferred from Direct Assay more info
colocalizes_with extracellular matrix	TAS Traceable Author Statement more info
extracellular region	IEA Inferred from Electronic Annotation more info
extracellular space	IDA Inferred from Direct Assay more info

General protein information

Preferred Names: collagen alpha-1(XVIII) chain

Names: collagen alpha-1(XVIII) chain; endostatin; antiangiogenic agent; multi-functional protein MFP

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011903.1 RefSeqGene

Range

5001..113529

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_030582.3 → NP_085059.2 collagen alpha-1(XVIII) chain isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) is generated from an alternate promoter. It lacks an in-frame segment in the 5' exon, as compared to variant 3. The resulting isoform (1) lacks an internal segment in the N-terminus, as compared to isoform 3.

Source sequence(s)

AF018082, BC063833, BX322561

Consensus CDS

CCDS42972.1

UniProtKB/TrEMBL

D3DSM5

UniProtKB/Swiss-Prot

P39060

Related

ENSP00000347665, OTTHUMP00000115472, ENST00000355480, OTTHUMT00000206827

Conserved Domains (4) summary

cd00247
Location:1340 – 1510
Blast Score: 741

Endostatin-like; Endostatin-like domain; the angiogenesis inhibitor endostatin is a C-terminal fragment of collagen XV/XVIII, a proteoglycan/collagen found in vessel walls and basement membranes; this domain has a compact globular fold similar to that of C-type lectins; ...

pfam06121
Location:36 – 184
Blast Score: 449

DUF959; Domain of Unknown Function (DUF959)

pfam01391
Location:832 – 873
Blast Score: 95

Collagen; Collagen triple helix repeat (20 copies)

cl00102
Location:247 – 409
Blast Score: 353

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
NM_130445.2 → NP_569712.2 collagen alpha-1(XVIII) chain isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) is generated from a more distal promoter. It has an alternate 5' UTR and 5' CDS, as compared to variant 3. The resulting isoform (2) has a shorter and different N-terminus, as compared to isoform 3.

Source sequence(s)

AF018082, BC063833, CN389577

Consensus CDS

CCDS42971.1

UniProtKB/TrEMBL

D3DSM4

UniProtKB/Swiss-Prot

P39060

Related

ENSP00000383191, OTTHUMP00000115473, ENST00000400337, OTTHUMT00000206828

Conserved Domains (3) summary

cd00247
Location:1160 – 1330
Blast Score: 737

Endostatin-like; Endostatin-like domain; the angiogenesis inhibitor endostatin is a C-terminal fragment of collagen XV/XVIII, a proteoglycan/collagen found in vessel walls and basement membranes; this domain has a compact globular fold similar to that of C-type lectins; ...

pfam01391
Location:652 – 693
Blast Score: 98

Collagen; Collagen triple helix repeat (20 copies)

cl00102
Location:67 – 229
Blast Score: 350

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000021.8 Reference GRCh37.p5 Primary Assembly

Range

46825097..46933634

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000153.1 Alternate HuRef

Range

32201756..32310095

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_130444.2: Suppressed sequence

Description

NM_130444.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL163302.2	CAB90482.1
genomic	AY484971.1	AAR83296.1
		AAR83297.1
		AAR83298.1
genomic	BX322561.1 (14591..15257)	None
genomic	BX322562.1 (22415..25758)	None
genomic	BX322563.1	None
genomic	CH471079.2	EAX09338.1
		EAX09339.1
		EAX09340.1
		EAX09341.1
		EAX09342.1
		EAX09343.1
		EAX09344.1
mRNA	AF018081.1	AAC39658.1
mRNA	AF018082.1	AAC39659.1
mRNA	AF184060.1	AAF01310.1
mRNA	AF333246.1	None
mRNA	AF333247.1	AAK50626.1
mRNA	AF416592.1	AAL37720.1
mRNA	AK098216.1	None
mRNA	AK130835.1	None
mRNA	BC033715.1	AAH33715.1
mRNA	BC063833.1	AAH63833.1
mRNA	CN389577.1	None
mRNA	L22548.1	AAA51864.1