P4HB (prolyl 4-hydroxylase subunit beta)

2014-06-01 Affiliation

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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000185624	ENST00000331483	P07237
ENSG00000185624	ENST00000331483	A0A024R8S5
ENSG00000185624	ENST00000415593	H0Y3Z3
ENSG00000185624	ENST00000439918	H7BZ94
ENSG00000185624	ENST00000570907	I3L4M2
ENSG00000185624	ENST00000571617	I3L0S0
ENSG00000185624	ENST00000573778	I3L312
ENSG00000185624	ENST00000574914	I3L3P5
ENSG00000185624	ENST00000575069	I3L1Y5
ENSG00000185624	ENST00000576052	I3NI03
ENSG00000185624	ENST00000576380	I3L398
ENSG00000185624	ENST00000576390	I3L514
ENSG00000185624	ENST00000576541	I3L3U6

Expression (GTEx)

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

Pathway	Source	External ID
Protein processing in endoplasmic reticulum	KEGG	ko04141
Protein processing in endoplasmic reticulum	KEGG	hsa04141
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Hedgehog	REACTOME	R-HSA-5358351
Hedgehog ligand biogenesis	REACTOME	R-HSA-5358346
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Lipid digestion, mobilization, and transport	REACTOME	R-HSA-73923
Lipoprotein metabolism	REACTOME	R-HSA-174824
Chylomicron-mediated lipid transport	REACTOME	R-HSA-174800
Extracellular matrix organization	REACTOME	R-HSA-1474244
Collagen formation	REACTOME	R-HSA-1474290
Collagen biosynthesis and modifying enzymes	REACTOME	R-HSA-1650814
Cellular responses to stress	REACTOME	R-HSA-2262752
Detoxification of Reactive Oxygen Species	REACTOME	R-HSA-3299685
VLDL interactions	REACTOME	R-HSA-8855121
VLDL biosynthesis	REACTOME	R-HSA-8866423

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20668226	2010	Endothelium-derived but not platelet-derived protein disulfide isomerase is required for thrombus formation in vivo.	56
23141538	2012	Protein folding drives disulfide formation.	52
15611098	2005	Characterization of the S-denitrosation activity of protein disulfide isomerase.	47
26869642	2016	ALS-linked protein disulfide isomerase variants cause motor dysfunction.	24
23444257	2013	Inhibition of prolyl 4-hydroxylase, beta polypeptide (P4HB) attenuates temozolomide resistance in malignant glioma via the endoplasmic reticulum stress response (ERSR) pathways.	23
29924999	2018	Redox Regulation of Mitochondrial Fission Protein Drp1 by Protein Disulfide Isomerase Limits Endothelial Senescence.	20
23337974	2013	Association studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis.	19
25683117	2015	Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.	19
25258311	2014	Different interaction modes for protein-disulfide isomerase (PDI) as an efficient regulator and a specific substrate of endoplasmic reticulum oxidoreductin-1α (Ero1α).	18

Citation

Dessen P

P4HB (prolyl 4-hydroxylase subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54011/p4hb