COL13A1 (collagen type XIII alpha 1 chain)

2018-07-01  

Identity

HGNC
COL13A1
LOCATION
10q22.1
LOCUSID
1305
ALIAS
CMS19,COLXIIIA1

Other Information

Locus ID:

NCBI: 1305
MIM: 120350
HGNC: 2190
Ensembl: ENSG00000197467

Variants:

dbSNP: 1305
ClinVar: 1305
TCGA: ENSG00000197467
COSMIC: COL13A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197467ENST00000354547Q5TAT6
ENSG00000197467ENST00000357811Q5TAT6
ENSG00000197467ENST00000398969E7ES50
ENSG00000197467ENST00000398975H7BYT9
ENSG00000197467ENST00000398978Q5TAT6
ENSG00000197467ENST00000456019H7BZB6
ENSG00000197467ENST00000479733E7EX21
ENSG00000197467ENST00000517713Q5TAT6
ENSG00000197467ENST00000520133Q5TAT6
ENSG00000197467ENST00000520267Q5TAT6
ENSG00000197467ENST00000522165Q5TAT6
ENSG00000197467ENST00000645393A0A2R8YGI3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Collagen degradationREACTOMER-HSA-1442490
Integrin cell surface interactionsREACTOMER-HSA-216083
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
207080052010Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.97
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
284156082017Collagen type IV alpha 1 (COL4A1) and collagen type XIII alpha 1 (COL13A1) produced in cancer cells promote tumor budding at the invasion front in human urothelial carcinoma of the bladder.22
119561832002The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparin.17
266266252015Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.15
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
288372582017Diagnostic and prognostic role of urinary collagens in primary human bladder cancer.8
128324062003Type XIII collagen and some other transmembrane collagens contain two separate coiled-coil motifs, which may function as independent oligomerization domains.6
293077982018Genetic variants in COL13A1, ADIPOQ and SAMM50, in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population.4
302858092018Membrane associated collagen XIII promotes cancer metastasis and enhances anoikis resistance.4

Citation

Dessen P

COL13A1 (collagen type XIII alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57587/col13a1