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P4HB (prolyl 4-hydroxylase subunit beta)

Identity

Alias_namesPO4DB
ERBA2L
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide
prolyl 4-hydroxylase, beta polypeptide
Alias_symbol (synonym)PDIA1
PROHB
DSI
GIT
PDI
PO4HB
P4Hbeta
Other aliasCLCRP1
PHDB
HGNC (Hugo) P4HB
LocusID (NCBI) 5034
Atlas_Id 54011
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 81843158 and ends at 81860668 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACTB (7p22.1) / P4HB (17q25.3)HELZ (17q24.2) / P4HB (17q25.3)NPLOC4 (17q25.3) / P4HB (17q25.3)
P4HB (17q25.3) / CXCR5 (11q23.3)P4HB (17q25.3) / MAP4K4 (2q11.2)P4HB (17q25.3) / PLEKHA5 (12p12.3)
P4HB (17q25.3) / PLEKHB2 (2q21.1)P4HB (17q25.3) / PTMA (2q37.1)P4HB (17q25.3) / SEC63 (6q21)
P4HB (17q25.3) / SOS1 (2p22.1)P4HB (17q25.3) / TPT1 (13q14.13)P4HB (17q25.3) / UBE2E3 (2q31.3)
P4HB (17q25.3) / YBX3 (12p13.2)P4HB (17q25.3) / ZNFX1 (20q13.13)RPS9 (19q13.42) / P4HB (17q25.3)
NPLOC4 17q25.3 / P4HB 17q25.3P4HB 17q25.3 CSDAP4HB 17q25.3 / CXCR5 11q23.3
P4HB 17q25.3 / PLEKHA5 12p12.3P4HB 17q25.3 / SEC63 6q21P4HB 17q25.3 / SOS1 2p22.1
P4HB 17q25.3 / TPT1 13q14.13P4HB 17q25.3 / ZNFX1 20q13.13

Note

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)P4HB   8548
Cards
Entrez_Gene (NCBI)P4HB  5034  prolyl 4-hydroxylase subunit beta
AliasesCLCRP1; DSI; ERBA2L; GIT; 
P4Hbeta; PDI; PDIA1; PHDB; PO4DB; PO4HB; PROHB
GeneCards (Weizmann)P4HB
Ensembl hg19 (Hinxton)ENSG00000185624 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185624 [Gene_View]  chr17:81843158-81860668 [Contig_View]  P4HB [Vega]
ICGC DataPortalENSG00000185624
TCGA cBioPortalP4HB
AceView (NCBI)P4HB
Genatlas (Paris)P4HB
WikiGenes5034
SOURCE (Princeton)P4HB
Genetics Home Reference (NIH)P4HB
Genomic and cartography
GoldenPath hg38 (UCSC)P4HB  -     chr17:81843158-81860668 -  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)P4HB  -     17q25.3   [Description]    (hg19-Feb_2009)
EnsemblP4HB - 17q25.3 [CytoView hg19]  P4HB - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBIP4HB [Mapview hg19]  P4HB [Mapview hg38]
OMIM112240   176790   
Gene and transcription
Genbank (Entrez)AB062434 AK075503 AK095938 AK128783 AK296206
RefSeq transcript (Entrez)NM_000918
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)P4HB
Cluster EST : UnigeneHs.464336 [ NCBI ]
CGAP (NCI)Hs.464336
Alternative Splicing GalleryENSG00000185624
Gene ExpressionP4HB [ NCBI-GEO ]   P4HB [ EBI - ARRAY_EXPRESS ]   P4HB [ SEEK ]   P4HB [ MEM ]
Gene Expression Viewer (FireBrowse)P4HB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5034
GTEX Portal (Tissue expression)P4HB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07237   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07237  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07237
Splice isoforms : SwissVarP07237
Catalytic activity : Enzyme5.3.4.1 [ Enzyme-Expasy ]   5.3.4.15.3.4.1 [ IntEnz-EBI ]   5.3.4.1 [ BRENDA ]   5.3.4.1 [ KEGG ]   
PhosPhoSitePlusP07237
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    THIOREDOXIN_1 (PS00194)    THIOREDOXIN_2 (PS51352)   
Domains : Interpro (EBI)Disulphide_isomerase    Prot_disulphide_isomerase    Thioredoxin-like_fold    Thioredoxin_CS    Thioredoxin_domain   
Domain families : Pfam (Sanger)Thioredoxin (PF00085)   
Domain families : Pfam (NCBI)pfam00085   
Conserved Domain (NCBI)P4HB
DMDM Disease mutations5034
Blocks (Seattle)P4HB
PDB (SRS)1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5   
PDB (PDBSum)1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5   
PDB (IMB)1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5   
PDB (RSDB)1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5   
Structural Biology KnowledgeBase1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5   
SCOP (Structural Classification of Proteins)1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5   
CATH (Classification of proteins structures)1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5   
SuperfamilyP07237
Human Protein AtlasENSG00000185624
Peptide AtlasP07237
HPRD07181
IPIIPI00010796   IPI01012981   IPI00911004   IPI00878551   IPI00386460   IPI00879437   
Protein Interaction databases
DIP (DOE-UCLA)P07237
IntAct (EBI)P07237
FunCoupENSG00000185624
BioGRIDP4HB
STRING (EMBL)P4HB
ZODIACP4HB
Ontologies - Pathways
QuickGOP07237
Ontology : AmiGOresponse to reactive oxygen species  RNA binding  protein disulfide isomerase activity  procollagen-proline 4-dioxygenase activity  integrin binding  protein binding  extracellular region  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum-Golgi intermediate compartment  focal adhesion  protein folding  external side of plasma membrane  peptide disulfide oxidoreductase activity  procollagen-proline 4-dioxygenase complex  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  enzyme binding  extracellular matrix  endoplasmic reticulum chaperone complex  response to endoplasmic reticulum stress  lipoprotein biosynthetic process  melanosome  cell redox homeostasis  positive regulation of viral entry into host cell  protein heterodimerization activity  oxidation-reduction process  extracellular exosome  cellular response to hypoxia  regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIresponse to reactive oxygen species  RNA binding  protein disulfide isomerase activity  procollagen-proline 4-dioxygenase activity  integrin binding  protein binding  extracellular region  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum-Golgi intermediate compartment  focal adhesion  protein folding  external side of plasma membrane  peptide disulfide oxidoreductase activity  procollagen-proline 4-dioxygenase complex  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  enzyme binding  extracellular matrix  endoplasmic reticulum chaperone complex  response to endoplasmic reticulum stress  lipoprotein biosynthetic process  melanosome  cell redox homeostasis  positive regulation of viral entry into host cell  protein heterodimerization activity  oxidation-reduction process  extracellular exosome  cellular response to hypoxia  regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  
Pathways : BIOCARTAHypoxia-Inducible Factor in the Cardiovascular System [Genes]    Vitamin C in the Brain [Genes]   
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkP4HB
Atlas of Cancer Signalling NetworkP4HB
Wikipedia pathwaysP4HB
Orthology - Evolution
OrthoDB5034
GeneTree (enSembl)ENSG00000185624
Phylogenetic Trees/Animal Genes : TreeFamP4HB
HOVERGENP07237
HOGENOMP07237
Homologs : HomoloGeneP4HB
Homology/Alignments : Family Browser (UCSC)P4HB
Gene fusions - Rearrangements
Fusion : MitelmanNPLOC4/P4HB [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Fusion : MitelmanP4HB/CXCR5 [17q25.3/11q23.3]  [t(11;17)(q23;q25)]  
Fusion : MitelmanP4HB/PLEKHA5 [17q25.3/12p12.3]  [t(12;17)(p12;q25)]  
Fusion : MitelmanP4HB/SEC63 [17q25.3/6q21]  [t(6;17)(q21;q25)]  
Fusion : MitelmanP4HB/SOS1 [17q25.3/2p22.1]  [t(2;17)(p22;q25)]  
Fusion : MitelmanP4HB/TPT1 [17q25.3/13q14.13]  [t(13;17)(q14;q25)]  
Fusion : MitelmanP4HB/YBX3 [17q25.3/12p13.2]  [t(12;17)(p13;q25)]  
Fusion : MitelmanP4HB/ZNFX1 [17q25.3/20q13.13]  [t(17;20)(q25;q13)]  
Fusion: TCGANPLOC4 17q25.3 P4HB 17q25.3 LUSC
Fusion: TCGAP4HB 17q25.3 CSDA HNSC
Fusion: TCGAP4HB 17q25.3 CXCR5 11q23.3 LUAD
Fusion: TCGAP4HB 17q25.3 PLEKHA5 12p12.3 BRCA
Fusion: TCGAP4HB 17q25.3 SEC63 6q21 SKCM
Fusion: TCGAP4HB 17q25.3 SOS1 2p22.1 LGG
Fusion: TCGAP4HB 17q25.3 TPT1 13q14.13 LUAD
Fusion: TCGAP4HB 17q25.3 ZNFX1 20q13.13 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP4HB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P4HB
dbVarP4HB
ClinVarP4HB
1000_GenomesP4HB 
Exome Variant ServerP4HB
ExAC (Exome Aggregation Consortium)P4HB (select the gene name)
Genetic variants : HAPMAP5034
Genomic Variants (DGV)P4HB [DGVbeta]
DECIPHERP4HB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisP4HB 
Mutations
ICGC Data PortalP4HB 
TCGA Data PortalP4HB 
Broad Tumor PortalP4HB
OASIS PortalP4HB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICP4HB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDP4HB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch P4HB
DgiDB (Drug Gene Interaction Database)P4HB
DoCM (Curated mutations)P4HB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P4HB (select a term)
intoGenP4HB
Cancer3DP4HB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM112240    176790   
Orphanet1971   
MedgenP4HB
Genetic Testing Registry P4HB
NextProtP07237 [Medical]
TSGene5034
GENETestsP4HB
Target ValidationP4HB
Huge Navigator P4HB [HugePedia]
snp3D : Map Gene to Disease5034
BioCentury BCIQP4HB
ClinGenP4HB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5034
Chemical/Pharm GKB GenePA32876
Clinical trialP4HB
Miscellaneous
canSAR (ICR)P4HB (select the gene name)
Probes
Litterature
PubMed141 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP4HB
EVEXP4HB
GoPubMedP4HB
iHOPP4HB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:23:31 CEST 2017

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