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P4HB (prolyl 4-hydroxylase subunit beta)

Identity

Alias (NCBI)CLCRP1
DSI
ERBA2L
GIT
P4Hbeta
PDI
PDIA1
PHDB
PO4DB
PO4HB
PROHB
HGNC (Hugo) P4HB
HGNC Alias symbPDIA1
PROHB
DSI
GIT
PDI
PO4HB
P4Hbeta
HGNC Alias nameprotein disulfide isomerase-associated 1
 protein disulfide isomerase family A, member 1
 collagen prolyl 4-hydroxylase beta
HGNC Previous namePO4DB
 ERBA2L
HGNC Previous nameprocollagen-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
LocusID (NCBI) 5034
Atlas_Id 54011
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 81843166 and ends at 81860535 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    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]  ENSG00000185624 [Sequence]  chr17:81843166-81860535 [Contig_View]  P4HB [Vega]
ICGC DataPortalENSG00000185624
TCGA cBioPortalP4HB
AceView (NCBI)P4HB
Genatlas (Paris)P4HB
SOURCE (Princeton)P4HB
Genetics Home Reference (NIH)P4HB
Genomic and cartography
GoldenPath hg38 (UCSC)P4HB  -     chr17:81843166-81860535 -  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)P4HB  -     17q25.3   [Description]    (hg19-Feb_2009)
GoldenPathP4HB - 17q25.3 [CytoView hg19]  P4HB - 17q25.3 [CytoView hg38]
ImmunoBaseENSG00000185624
Genome Data Viewer NCBIP4HB [Mapview hg19]  
OMIM112240   176790   
Gene and transcription
Genbank (Entrez)AB062434 AK075503 AK095938 AK128783 AK296206
RefSeq transcript (Entrez)NM_000918
Consensus coding sequences : CCDS (NCBI)P4HB
Gene ExpressionP4HB [ NCBI-GEO ]   P4HB [ EBI - ARRAY_EXPRESS ]   P4HB [ SEEK ]   P4HB [ MEM ]
Gene Expression Viewer (FireBrowse)P4HB [ Firebrowse - Broad ]
GenevisibleExpression of P4HB in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5034
GTEX Portal (Tissue expression)P4HB
Human Protein AtlasENSG00000185624-P4HB [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
PhosPhoSitePlusP07237
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    THIOREDOXIN_1 (PS00194)    THIOREDOXIN_2 (PS51352)   
Domains : Interpro (EBI)Disulphide_isomerase    Prot_disulphide_isomerase    Thioredoxin-like_sf    Thioredoxin_CS    Thioredoxin_domain   
Domain families : Pfam (Sanger)Thioredoxin (PF00085)   
Domain families : Pfam (NCBI)pfam00085   
Conserved Domain (NCBI)P4HB
PDB (RSDB)1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5    6I7S   
PDB Europe1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5    6I7S   
PDB (PDBSum)1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5    6I7S   
PDB (IMB)1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5    6I7S   
Structural Biology KnowledgeBase1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5    6I7S   
SCOP (Structural Classification of Proteins)1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5    6I7S   
CATH (Classification of proteins structures)1BJX    1MEK    1X5C    2BJX    2K18    3BJ5    3UEM    4EKZ    4EL1    4JU5    6I7S   
SuperfamilyP07237
AlphaFold pdb e-kbP07237   
Human Protein Atlas [tissue]ENSG00000185624-P4HB [tissue]
HPRD07181
Protein Interaction databases
DIP (DOE-UCLA)P07237
IntAct (EBI)P07237
BioGRIDP4HB
STRING (EMBL)P4HB
ZODIACP4HB
Ontologies - Pathways
QuickGOP07237
Ontology : AmiGORNA binding  protein disulfide isomerase activity  protein disulfide isomerase activity  protein disulfide isomerase activity  actin binding  procollagen-proline 4-dioxygenase activity  integrin binding  protein binding  extracellular region  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum-Golgi intermediate compartment  cytosol  cytoskeleton  focal adhesion  protein folding  external side of plasma membrane  external side of plasma membrane  protein-disulfide reductase activity  procollagen-proline 4-dioxygenase complex  thiol oxidase activity  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  enzyme binding  lamellipodium  collagen fibril organization  protein-containing complex  chylomicron assembly  very-low-density lipoprotein particle assembly  endoplasmic reticulum chaperone complex  protein folding in endoplasmic reticulum  response to endoplasmic reticulum stress  response to endoplasmic reticulum stress  interleukin-12-mediated signaling pathway  interleukin-23-mediated signaling pathway  melanosome  post-translational protein modification  cellular protein metabolic process  positive regulation of cell adhesion  positive regulation of viral entry into host cell  protein heterodimerization activity  extracellular exosome  cellular response to hypoxia  cellular response to interleukin-7  positive regulation of substrate adhesion-dependent cell spreading  regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIRNA binding  protein disulfide isomerase activity  protein disulfide isomerase activity  protein disulfide isomerase activity  actin binding  procollagen-proline 4-dioxygenase activity  integrin binding  protein binding  extracellular region  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum-Golgi intermediate compartment  cytosol  cytoskeleton  focal adhesion  protein folding  external side of plasma membrane  external side of plasma membrane  protein-disulfide reductase activity  procollagen-proline 4-dioxygenase complex  thiol oxidase activity  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  enzyme binding  lamellipodium  collagen fibril organization  protein-containing complex  chylomicron assembly  very-low-density lipoprotein particle assembly  endoplasmic reticulum chaperone complex  protein folding in endoplasmic reticulum  response to endoplasmic reticulum stress  response to endoplasmic reticulum stress  interleukin-12-mediated signaling pathway  interleukin-23-mediated signaling pathway  melanosome  post-translational protein modification  cellular protein metabolic process  positive regulation of cell adhesion  positive regulation of viral entry into host cell  protein heterodimerization activity  extracellular exosome  cellular response to hypoxia  cellular response to interleukin-7  positive regulation of substrate adhesion-dependent cell spreading  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
Homologs : HomoloGeneP4HB
Homology/Alignments : Family Browser (UCSC)P4HB
Gene fusions - Rearrangements
Fusion : MitelmanNPLOC4/P4HB [17q25.3/17q25.3]  
Fusion : MitelmanP4HB/CXCR5 [17q25.3/11q23.3]  
Fusion : MitelmanP4HB/PLEKHA5 [17q25.3/12p12.3]  
Fusion : MitelmanP4HB/SEC63 [17q25.3/6q21]  
Fusion : MitelmanP4HB/SOS1 [17q25.3/2p22.1]  
Fusion : MitelmanP4HB/TPT1 [17q25.3/13q14.13]  
Fusion : MitelmanP4HB/YBX3 [17q25.3/12p13.2]  
Fusion : MitelmanP4HB/ZNFX1 [17q25.3/20q13.13]  
Fusion : QuiverP4HB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP4HB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P4HB
dbVarP4HB
ClinVarP4HB
MonarchP4HB
1000_GenomesP4HB 
Exome Variant ServerP4HB
GNOMAD BrowserENSG00000185624
Varsome BrowserP4HB
ACMGP4HB variants
VarityP07237
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]  
Somatic Mutations in Cancer : COSMIC3DP4HB
Mutations and Diseases : HGMDP4HB
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaP4HB
DgiDB (Drug Gene Interaction Database)P4HB
DoCM (Curated mutations)P4HB
CIViC (Clinical Interpretations of Variants in Cancer)P4HB
Cancer3DP4HB
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM112240    176790   
Orphanet1971   
DisGeNETP4HB
MedgenP4HB
Genetic Testing Registry P4HB
NextProtP07237 [Medical]
GENETestsP4HB
Target ValidationP4HB
Huge Navigator P4HB [HugePedia]
ClinGenP4HB
Clinical trials, drugs, therapy
MyCancerGenomeP4HB
Protein Interactions : CTDP4HB
Pharm GKB GenePA32876
PharosP07237
Clinical trialP4HB
Miscellaneous
canSAR (ICR)P4HB
HarmonizomeP4HB
DataMed IndexP4HB
Probes
Litterature
PubMed239 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXP4HB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:24:06 CEST 2021

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