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PHPT1 (phosphohistidine phosphatase 1)

Identity

Alias_symbol (synonym)PHP14
HSPC141
CGI-202
DKFZp564M173
bA216L13.10
Other aliasHEL-S-132P
HGNC (Hugo) PHPT1
LocusID (NCBI) 29085
Atlas_Id 51359
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 139743268 and ends at 139745495 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PHPT1 (9q34.3) / DLK1 (14q32.2)PLPP3 (1p32.2) / PHPT1 (9q34.3)

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)PHPT1   30033
Cards
Entrez_Gene (NCBI)PHPT1  29085  phosphohistidine phosphatase 1
AliasesCGI-202; HEL-S-132P; HSPC141; PHP14
GeneCards (Weizmann)PHPT1
Ensembl hg19 (Hinxton)ENSG00000054148 [Gene_View]  chr9:139743268-139745495 [Contig_View]  PHPT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000054148 [Gene_View]  chr9:139743268-139745495 [Contig_View]  PHPT1 [Vega]
ICGC DataPortalENSG00000054148
TCGA cBioPortalPHPT1
AceView (NCBI)PHPT1
Genatlas (Paris)PHPT1
WikiGenes29085
SOURCE (Princeton)PHPT1
Genetics Home Reference (NIH)PHPT1
Genomic and cartography
GoldenPath hg19 (UCSC)PHPT1  -     chr9:139743268-139745495 +  9q34.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PHPT1  -     9q34.3   [Description]    (hg38-Dec_2013)
EnsemblPHPT1 - 9q34.3 [CytoView hg19]  PHPT1 - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBIPHPT1 [Mapview hg19]  PHPT1 [Mapview hg38]
OMIM610167   
Gene and transcription
Genbank (Entrez)AA460844 AF131857 AF161490 AF164795 AF285119
RefSeq transcript (Entrez)NM_001135860 NM_001135861 NM_001287342 NM_001287343 NM_014172
RefSeq genomic (Entrez)NC_000009 NC_018920 NT_008470 NW_004929369
Consensus coding sequences : CCDS (NCBI)PHPT1
Cluster EST : UnigeneHs.731711 [ NCBI ]
CGAP (NCI)Hs.731711
Alternative Splicing GalleryENSG00000054148
Gene ExpressionPHPT1 [ NCBI-GEO ]   PHPT1 [ EBI - ARRAY_EXPRESS ]   PHPT1 [ SEEK ]   PHPT1 [ MEM ]
Gene Expression Viewer (FireBrowse)PHPT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29085
GTEX Portal (Tissue expression)PHPT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRX4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRX4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRX4
Splice isoforms : SwissVarQ9NRX4
Catalytic activity : Enzyme3.1.3.- [ Enzyme-Expasy ]   3.1.3.-3.1.3.- [ IntEnz-EBI ]   3.1.3.- [ BRENDA ]   3.1.3.- [ KEGG ]   
PhosPhoSitePlusQ9NRX4
Domains : Interpro (EBI)Janus    PHPT1   
Domain families : Pfam (Sanger)Ocnus (PF05005)   
Domain families : Pfam (NCBI)pfam05005   
Conserved Domain (NCBI)PHPT1
DMDM Disease mutations29085
Blocks (Seattle)PHPT1
PDB (SRS)2AI6    2HW4    2NMM    2OZW    2OZX   
PDB (PDBSum)2AI6    2HW4    2NMM    2OZW    2OZX   
PDB (IMB)2AI6    2HW4    2NMM    2OZW    2OZX   
PDB (RSDB)2AI6    2HW4    2NMM    2OZW    2OZX   
Structural Biology KnowledgeBase2AI6    2HW4    2NMM    2OZW    2OZX   
SCOP (Structural Classification of Proteins)2AI6    2HW4    2NMM    2OZW    2OZX   
CATH (Classification of proteins structures)2AI6    2HW4    2NMM    2OZW    2OZX   
SuperfamilyQ9NRX4
Human Protein AtlasENSG00000054148
Peptide AtlasQ9NRX4
HPRD17849
IPIIPI00299977   IPI00513775   IPI00418228   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRX4
IntAct (EBI)Q9NRX4
FunCoupENSG00000054148
BioGRIDPHPT1
STRING (EMBL)PHPT1
ZODIACPHPT1
Ontologies - Pathways
QuickGOQ9NRX4
Ontology : AmiGOphosphoprotein phosphatase activity  cytosol  protein dephosphorylation  phosphohistidine phosphatase activity  phosphohistidine phosphatase activity  calcium channel inhibitor activity  positive regulation of insulin secretion involved in cellular response to glucose stimulus  peptidyl-histidine dephosphorylation  ion channel binding  negative regulation of T cell receptor signaling pathway  negative regulation of lyase activity  extracellular exosome  positive regulation of cell motility  regulation of actin cytoskeleton reorganization  negative regulation of ATP citrate synthase activity  
Ontology : EGO-EBIphosphoprotein phosphatase activity  cytosol  protein dephosphorylation  phosphohistidine phosphatase activity  phosphohistidine phosphatase activity  calcium channel inhibitor activity  positive regulation of insulin secretion involved in cellular response to glucose stimulus  peptidyl-histidine dephosphorylation  ion channel binding  negative regulation of T cell receptor signaling pathway  negative regulation of lyase activity  extracellular exosome  positive regulation of cell motility  regulation of actin cytoskeleton reorganization  negative regulation of ATP citrate synthase activity  
Pathways : KEGGFructose and mannose metabolism   
NDEx NetworkPHPT1
Atlas of Cancer Signalling NetworkPHPT1
Wikipedia pathwaysPHPT1
Orthology - Evolution
OrthoDB29085
GeneTree (enSembl)ENSG00000054148
Phylogenetic Trees/Animal Genes : TreeFamPHPT1
HOVERGENQ9NRX4
HOGENOMQ9NRX4
Homologs : HomoloGenePHPT1
Homology/Alignments : Family Browser (UCSC)PHPT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHPT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHPT1
dbVarPHPT1
ClinVarPHPT1
1000_GenomesPHPT1 
Exome Variant ServerPHPT1
ExAC (Exome Aggregation Consortium)PHPT1 (select the gene name)
Genetic variants : HAPMAP29085
Genomic Variants (DGV)PHPT1 [DGVbeta]
DECIPHER (Syndromes)9:139743268-139745495  ENSG00000054148
CONAN: Copy Number AnalysisPHPT1 
Mutations
ICGC Data PortalPHPT1 
TCGA Data PortalPHPT1 
Broad Tumor PortalPHPT1
OASIS PortalPHPT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHPT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHPT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PHPT1
DgiDB (Drug Gene Interaction Database)PHPT1
DoCM (Curated mutations)PHPT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHPT1 (select a term)
intoGenPHPT1
Cancer3DPHPT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610167   
Orphanet
MedgenPHPT1
Genetic Testing Registry PHPT1
NextProtQ9NRX4 [Medical]
TSGene29085
GENETestsPHPT1
Huge Navigator PHPT1 [HugePedia]
snp3D : Map Gene to Disease29085
BioCentury BCIQPHPT1
ClinGenPHPT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29085
Chemical/Pharm GKB GenePA134948141
Clinical trialPHPT1
Miscellaneous
canSAR (ICR)PHPT1 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHPT1
EVEXPHPT1
GoPubMedPHPT1
iHOPPHPT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:14:16 CEST 2017

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