Atlas of Genetics and Cytogenetics in Oncology and Haematology

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P3H1 (prolyl 3-hydroxylase 1)

Identity

Alias_namesLEPRE1
leucine proline-enriched proteoglycan (leprecan) 1
Alias_symbol (synonym)GROS1
LEPRECAN
MGC117314
Other aliasOI8
HGNC (Hugo) P3H1
LocusID (NCBI) 64175
Atlas_Id 41140
Location 1p34.2  [Link to chromosome band 1p34]
Location_base_pair Starts at 42746335 and ends at 42767084 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)
MAL2 (8q24.12) / P3H1 (1p34.2)P3H1 (1p34.2) / ERI3 (1p34.1)USP44 (12q22) / P3H1 (1p34.2)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  P3H1/ERI3 (1p34)

External links

Nomenclature
HGNC (Hugo)P3H1   19316
LRG (Locus Reference Genomic)LRG_5
Cards
Entrez_Gene (NCBI)P3H1  64175  prolyl 3-hydroxylase 1
AliasesGROS1; LEPRE1; OI8
GeneCards (Weizmann)P3H1
Ensembl hg19 (Hinxton)ENSG00000117385 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117385 [Gene_View]  ENSG00000117385 [Sequence]  chr1:42746335-42767084 [Contig_View]  P3H1 [Vega]
ICGC DataPortalENSG00000117385
TCGA cBioPortalP3H1
AceView (NCBI)P3H1
Genatlas (Paris)P3H1
WikiGenes64175
SOURCE (Princeton)P3H1
Genetics Home Reference (NIH)P3H1
Genomic and cartography
GoldenPath hg38 (UCSC)P3H1  -     chr1:42746335-42767084 -  1p34.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)P3H1  -     1p34.2   [Description]    (hg19-Feb_2009)
GoldenPathP3H1 - 1p34.2 [CytoView hg19]  P3H1 - 1p34.2 [CytoView hg38]
ImmunoBaseENSG00000117385
Mapping of homologs : NCBIP3H1 [Mapview hg19]  P3H1 [Mapview hg38]
OMIM610339   610915   
Gene and transcription
Genbank (Entrez)AF097431 AF097432 AK025841 AK027648 AK027680
RefSeq transcript (Entrez)NM_001146289 NM_001243246 NM_022356
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)P3H1
Cluster EST : UnigeneHs.720014 [ NCBI ]
CGAP (NCI)Hs.720014
Alternative Splicing GalleryENSG00000117385
Gene ExpressionP3H1 [ NCBI-GEO ]   P3H1 [ EBI - ARRAY_EXPRESS ]   P3H1 [ SEEK ]   P3H1 [ MEM ]
Gene Expression Viewer (FireBrowse)P3H1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64175
GTEX Portal (Tissue expression)P3H1
Human Protein AtlasENSG00000117385-P3H1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ32P28   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ32P28  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ32P28
Splice isoforms : SwissVarQ32P28
Catalytic activity : Enzyme1.14.11.7 [ Enzyme-Expasy ]   1.14.11.71.14.11.7 [ IntEnz-EBI ]   1.14.11.7 [ BRENDA ]   1.14.11.7 [ KEGG ]   
PhosPhoSitePlusQ32P28
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    FE2OG_OXY (PS51471)   
Domains : Interpro (EBI)Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph    TPR-like_helical_dom_sf   
Domain families : Pfam (Sanger)2OG-FeII_Oxy_3 (PF13640)   
Domain families : Pfam (NCBI)pfam13640   
Domain families : Smart (EMBL)P4Hc (SM00702)  
Conserved Domain (NCBI)P3H1
DMDM Disease mutations64175
Blocks (Seattle)P3H1
SuperfamilyQ32P28
Human Protein Atlas [tissue]ENSG00000117385-P3H1 [tissue]
Peptide AtlasQ32P28
HPRD11227
IPIIPI00163381   IPI00761114   IPI00045839   IPI01013314   IPI00916562   IPI00644560   IPI00916709   
Protein Interaction databases
DIP (DOE-UCLA)Q32P28
IntAct (EBI)Q32P28
FunCoupENSG00000117385
BioGRIDP3H1
STRING (EMBL)P3H1
ZODIACP3H1
Ontologies - Pathways
QuickGOQ32P28
Ontology : AmiGOmolecular_function  iron ion binding  protein binding  collagen binding  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  protein folding  negative regulation of cell proliferation  positive regulation of neuron projection development  membrane  protein hydroxylation  peptidyl-proline hydroxylation  procollagen-proline 3-dioxygenase activity  procollagen-proline 3-dioxygenase activity  L-ascorbic acid binding  collagen metabolic process  collagen metabolic process  protein-containing complex  regulation of protein secretion  protein stabilization  oxidation-reduction process  bone development  chaperone-mediated protein folding  collagen-containing extracellular matrix  extracellular exosome  negative regulation of post-translational protein modification  
Ontology : EGO-EBImolecular_function  iron ion binding  protein binding  collagen binding  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  protein folding  negative regulation of cell proliferation  positive regulation of neuron projection development  membrane  protein hydroxylation  peptidyl-proline hydroxylation  procollagen-proline 3-dioxygenase activity  procollagen-proline 3-dioxygenase activity  L-ascorbic acid binding  collagen metabolic process  collagen metabolic process  protein-containing complex  regulation of protein secretion  protein stabilization  oxidation-reduction process  bone development  chaperone-mediated protein folding  collagen-containing extracellular matrix  extracellular exosome  negative regulation of post-translational protein modification  
NDEx NetworkP3H1
Atlas of Cancer Signalling NetworkP3H1
Wikipedia pathwaysP3H1
Orthology - Evolution
OrthoDB64175
GeneTree (enSembl)ENSG00000117385
Phylogenetic Trees/Animal Genes : TreeFamP3H1
HOGENOMQ32P28
Homologs : HomoloGeneP3H1
Homology/Alignments : Family Browser (UCSC)P3H1
Gene fusions - Rearrangements
Fusion : MitelmanP3H1/ERI3 [1p34.2/1p34.1]  
Fusion : QuiverP3H1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP3H1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P3H1
dbVarP3H1
ClinVarP3H1
1000_GenomesP3H1 
Exome Variant ServerP3H1
ExAC (Exome Aggregation Consortium)ENSG00000117385
GNOMAD BrowserENSG00000117385
Varsome BrowserP3H1
Genetic variants : HAPMAP64175
Genomic Variants (DGV)P3H1 [DGVbeta]
DECIPHERP3H1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisP3H1 
Mutations
ICGC Data PortalP3H1 
TCGA Data PortalP3H1 
Broad Tumor PortalP3H1
OASIS PortalP3H1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICP3H1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DP3H1
Mutations and Diseases : HGMDP3H1
BioMutasearch P3H1
DgiDB (Drug Gene Interaction Database)P3H1
DoCM (Curated mutations)P3H1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P3H1 (select a term)
intoGenP3H1
Cancer3DP3H1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610339    610915   
Orphanet18792    18793   
DisGeNETP3H1
MedgenP3H1
Genetic Testing Registry P3H1
NextProtQ32P28 [Medical]
TSGene64175
GENETestsP3H1
Target ValidationP3H1
Huge Navigator P3H1 [HugePedia]
snp3D : Map Gene to Disease64175
BioCentury BCIQP3H1
ClinGenP3H1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64175
Chemical/Pharm GKB GenePA134930599
Clinical trialP3H1
Miscellaneous
canSAR (ICR)P3H1 (select the gene name)
DataMed IndexP3H1
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP3H1
EVEXP3H1
GoPubMedP3H1
iHOPP3H1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:59:29 CET 2019
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