COL14A1 (collagen type XIV alpha 1 chain)

2003-05-01  

Identity

HGNC
LOCATION
8q24.12
LOCUSID
ALIAS
UND
FUSION GENES

Other Information

Locus ID:

NCBI: 7373
MIM: 120324
HGNC: 2191
Ensembl: ENSG00000187955

Variants:

dbSNP: 7373
ClinVar: 7373
TCGA: ENSG00000187955
COSMIC: COL14A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187955ENST00000247781A0A0A0MQT7
ENSG00000187955ENST00000297848Q05707
ENSG00000187955ENST00000309791Q05707
ENSG00000187955ENST00000434620J3QT83
ENSG00000187955ENST00000440844J3QT75
ENSG00000187955ENST00000498051Q4G0W3
ENSG00000187955ENST00000523142H0YBB2
ENSG00000187955ENST00000537875Q4G0W3

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

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
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
225733292012Collagen XII and XIV, new partners of cartilage oligomeric matrix protein in the skin extracellular matrix suprastructure.28
258409982015Compartment-specific expression of collagens and their processing enzymes in intrapulmonary arteries of IPAH patients.16
179605192008The COL12A1 and COL14A1 genes and Achilles tendon injuries.11
179605192008The COL12A1 and COL14A1 genes and Achilles tendon injuries.11
161296872005The elongated first fibronectin type III domain of collagen XIV is an inducer of quiescence and differentiation in fibroblasts and preadipocytes.8
156090932004Collagen types XII and XIV are present in basement membrane zones during human embryonic development.7
229729472012Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.2

Citation

Dessen P

COL14A1 (collagen type XIV alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40122/col14a1