COL18A1 - collagen type XVIII alpha 1 chain Gene

Homo sapiens

Also known as KS; KNO; GLCC; KNO1

Gene ID: 80781 | Gene type: protein coding

About COL18A1

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:45,405,165-45,513,720 (from NCBI)

This gene has 7 transcripts (splice variants), 159 orthologues, 37 paralogues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 68.9), kidney (RPKM 46.2) and 24 other tissues.

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. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of Frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

COL18A1 Products(3)

mRNA	Protein	Name
NM_001379500.1	NP_001366429.1	collagen alpha-1(XVIII) chain isoform 4 preproprotein
NM_030582.4	NP_085059.2	collagen alpha-1(XVIII) chain isoform 1 preproprotein
NM_130444.3	NP_569711.2	collagen alpha-1(XVIII) chain isoform 3 preproprotein

COL18A1 Protein Structure

DUF959

Laminin_G_3

Collagen

Endostatin

0
300
600
900
1200
1500
1754 a.a.

Protein Preferred Names

Protein Names

collagen alpha-1(XVIII) chain

antiangiogenic agent

Recombinant COL18A1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7009	Collagen Alpha-1(XVIII) Chain/Endostatin Protein, Human (P.pastoris)	P39060 (A1571-K1754)	≥95%

Related Diseases

Diseases

Alias

Glaucoma, Primary Closed-Angle

GLCC	Primary Angle-Closure Glaucoma

Knobloch Syndrome 1

Retinal Detachment And Occipital Encephalocele	Knobloch Syndrome, Type 1
KNO1	Kno
Knobloch Syndrome

Knobloch Syndrome

Knobloch-Layer Syndrome	Retinal Detachment-Occipital Encephalocele Syndrome
Myopia Retinal Detachment Encephalocele	Retinal Detachment And Occipital Encephalocele

Stargardt Disease 1

Fundus Flavimaculatus	STGD1
Retinal Dystrophy, Early-Onset Severe	Macular Dystrophy With Flecks, Type 1
Stargardt'S Disease	Stgd
Macular Degeneration, Juvenile	Macular Degeneration Juvenile
FFM	Juvenile Macular Degeneration
Macular Dystrophy With Flecks Type 1	Early Onset And Severe Retinal Dystrophy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Occipital Encephalocele

Encephalocele

Cephalocele	Craniocele
Bifid Cranium	Cranium Bifidum
Encephaloceles

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Retinal Detachment

Retinal Detachments	Rhegmatogenous Retinal Detachment
Ruptured Retina With Detachment	Retinal Hole With Detachment

Vitreoretinal Degeneration

Intermittent Claudication

Charcot'S Syndrome

Amyotrophic Lateral Sclerosis

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Mixed Connective Tissue Disease

Sharp Syndrome	Mctd
Connective Tissue Disease Overlap Syndrome	Mixed Collagen Vascular Disease
Mctd - [Mixed Connective Tissue Disease]

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Kuhnt-Junius Degeneration

Neovascular Age-Related Macular Degeneration	Exudative Senile Macular Degeneration Of Retina
Senile Macular Degeneration, Wet	Wet Senile Macular Retinal Degeneration
Exudative Age-Related Macular Degeneration	Exudative Macular Degeneration

Macular Degeneration, Age-Related, 1

Macular Degeneration	Age-Related Macular Degeneration
Macular Degeneration, Age-Related	Age Related Macular Degeneration
Age Related Macular Degeneration 1	ARMD1
Senile Macular Degeneration	Maculopathy, Age-Related, 1
Macular Degeneration, Age-Related, Reduced Risk Of	Age Related Maculopathy 1
Age Related Maculopathies	Age Related Maculopathy
Senile Macular Retinal Degeneration	Macular Degeneration Of Retina
Age-Related Maculopathy	Amd
Armd	Age-Related Maculopathy, Susceptibility To
Maculopathy Age-Related	Macular Degeneration, Age-Related, 1, Susceptibility To
Maculopathy, Age-Related	Macular Degeneration, Age-Related, Type 1
Macular Degeneration, Age-Related, 2

Larynx Squamous Papilloma

Laryngeal Squamous Cell Papilloma

Exudative Vitreoretinopathy 1

Retinopathy Of Prematurity	Retrolental Fibroplasia
EVR1	Criswick-Schepens Syndrome
Rop	Exudative Vitreoretinopathy, Familial, Autosomal Dominant
Fevr, Autosomal Dominant	Premature Retinopathy
Vitreoretinopathy, Exudative 1	Autosomal Dominant Familial Exudative Vitreoretinopathy
Fevr	Vitreoretinopathy, Exudative, Type 1
Retinopathy Of Prematurity Nos	Rlf- [Retrolental Fibroplasia]
Rop - [Retinopathy Of Prematurity]	Terry Syndrome

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02968	COL18A1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	COL18A1	VGNC	VGNC:27559
Canis familiaris	COL18A1	VGNC	VGNC:49781
Macaca mulatta	COL18A1	VGNC	VGNC:81291
Mus musculus	COL18A1	MGD	MGI:88451
Rattus norvegicus	COL18A1	RGD	RGD:70936
Others	COL18A1	NCBI

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