COL18A1 - collagen type XVIII alpha 1 chain Gene

Also Known as KS; KNO; GLCC; KNO1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80781

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

DUF959: Domain of Unknown Function (DUF959) (13 - 195)

Fz

Fz: Fz domain (334 - 443)

Laminin_G_3

Laminin_G_3: Concanavalin A-like lectin/glucanases superfamily (504 - 640)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (802 - 856)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (932 - 990)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (973 - 1020)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1044 - 1096)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1072 - 1126)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1195 - 1243)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1249 - 1311)

Endostatin

Endostatin: Collagenase NC10 and Endostatin (1441 - 1753)

  • 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) P39060-3 (A1571-K1754) ≥ 95%, as determined by reducing SDS-PAGE.

COL18A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P811103 Collagen 18 alpha 1 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat
HY-P89562 COL18A1 Antibody (YA8906) WB, ICC/IF, IF-Tissue, IP, ELISA human

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02968 COL18A1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18436 Col18a1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24918 Col18a1 Rat Pre-designed siRNA Set A Pre-designed Set / 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