P4HB (prolyl 4-hydroxylase subunit beta)

2014-06-01  

Identity

HGNC
P4HB
LOCATION
17q25.3
LOCUSID
5034
ALIAS
CLCRP1,DSI,ERBA2L,GIT,P4Hbeta,PDI,PDIA1,PHDB,PO4DB,PO4HB,PROHB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5034
MIM: 176790
HGNC: 8548
Ensembl: ENSG00000185624

Variants:

dbSNP: 5034
ClinVar: 5034
TCGA: ENSG00000185624
COSMIC: P4HB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185624ENST00000331483P07237
ENSG00000185624ENST00000331483A0A024R8S5
ENSG00000185624ENST00000415593H0Y3Z3
ENSG00000185624ENST00000439918H7BZ94
ENSG00000185624ENST00000570907I3L4M2
ENSG00000185624ENST00000571617I3L0S0
ENSG00000185624ENST00000573778I3L312
ENSG00000185624ENST00000574914I3L3P5
ENSG00000185624ENST00000575069I3L1Y5
ENSG00000185624ENST00000576052I3NI03
ENSG00000185624ENST00000576380I3L398
ENSG00000185624ENST00000576390I3L514
ENSG00000185624ENST00000576541I3L3U6

Expression (GTEx)

0
500
1000
1500
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 processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog ligand biogenesisREACTOMER-HSA-5358346
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Cellular responses to stressREACTOMER-HSA-2262752
Detoxification of Reactive Oxygen SpeciesREACTOMER-HSA-3299685
VLDL interactionsREACTOMER-HSA-8855121
VLDL biosynthesisREACTOMER-HSA-8866423

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
381001202024ARID1A loss induces P4HB to activate fibroblasts to support lung cancer cell growth, invasion, and chemoresistance.2
383967722024Exploring the Influence of Zinc Ions on the Conformational Stability and Activity of Protein Disulfide Isomerase.0
381001202024ARID1A loss induces P4HB to activate fibroblasts to support lung cancer cell growth, invasion, and chemoresistance.2
383967722024Exploring the Influence of Zinc Ions on the Conformational Stability and Activity of Protein Disulfide Isomerase.0
359845462023Protein disulfide isomerase A1 as a novel redox sensor in VEGFR2 signaling and angiogenesis.4
364637552023A discovery-based proteomics approach identifies protein disulphide isomerase (PDIA1) as a biomarker of β cell stress in type 1 diabetes.6
371197302023A meta-analysis and bioinformatics analysis of P4HB expression levels in the prognosis of cancer patients.2
378073122023MiR-204-5p regulates HUVEC cell inflammation and apoptosis by targeting P4HB.0
378456682023Establishment of prognostic model of bladder cancer based on apoptosis-related genes, in which P4HB promotes BLCA progression.0
378807172023Circular RNA P4HB promotes glycolysis and tumor progression by binding with PKM2 in lung adenocarcinoma.2
359845462023Protein disulfide isomerase A1 as a novel redox sensor in VEGFR2 signaling and angiogenesis.4
364637552023A discovery-based proteomics approach identifies protein disulphide isomerase (PDIA1) as a biomarker of β cell stress in type 1 diabetes.6
371197302023A meta-analysis and bioinformatics analysis of P4HB expression levels in the prognosis of cancer patients.2
378073122023MiR-204-5p regulates HUVEC cell inflammation and apoptosis by targeting P4HB.0
378456682023Establishment of prognostic model of bladder cancer based on apoptosis-related genes, in which P4HB promotes BLCA progression.0

Citation

Dessen P

P4HB (prolyl 4-hydroxylase subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54011/js/gene-fusions/welcome