P4HA3 (prolyl 4-hydroxylase subunit alpha 3)

2019-04-01  

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 283208
MIM: 608987
HGNC: 30135
Ensembl: ENSG00000149380

Variants:

dbSNP: 283208
ClinVar: 283208
TCGA: ENSG00000149380
COSMIC: P4HA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149380ENST00000331597Q7Z4N8
ENSG00000149380ENST00000427714Q7Z4N8
ENSG00000149380ENST00000524388Q7Z4N8
ENSG00000149380ENST00000525968E9PM97
ENSG00000149380ENST00000532689H0YCC3

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Arginine and proline metabolismKEGGko00330
Arginine and proline metabolismKEGGhsa00330
Metabolic pathwaysKEGGhsa01100
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814

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
168851642006The length of peptide substrates has a marked effect on hydroxylation by the hypoxia-inducible factor prolyl 4-hydroxylases.38
301984212018P4HA3 is Epigenetically Activated by Slug in Gastric Cancer and its Deregulation is Associated With Enhanced Metastasis and Poor Survival.2
145007332003Identification and characterization of a third human, rat, and mouse collagen prolyl 4-hydroxylase isoenzyme.0

Citation

Dessen P

P4HA3 (prolyl 4-hydroxylase subunit alpha 3)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57943/p4ha3