Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PHKA1 (phosphorylase kinase regulatory subunit alpha 1)

Identity

Alias_namesPHKA
phosphorylase kinase, alpha 1 (muscle)
Other alias
HGNC (Hugo) PHKA1
LocusID (NCBI) 5255
Atlas_Id 71887
Location Xq13.1  [Link to chromosome band Xq13]
Location_base_pair Starts at 72578814 and ends at 72714181 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)
PHKA1 (Xq13.1) / OLFML2B (1q23.3)PHKA1 (Xq13.1) / PHKA1 (Xq13.1)

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)PHKA1   8925
Cards
Entrez_Gene (NCBI)PHKA1  5255  phosphorylase kinase regulatory subunit alpha 1
AliasesPHKA
GeneCards (Weizmann)PHKA1
Ensembl hg19 (Hinxton)ENSG00000067177 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000067177 [Gene_View]  chrX:72578814-72714181 [Contig_View]  PHKA1 [Vega]
ICGC DataPortalENSG00000067177
TCGA cBioPortalPHKA1
AceView (NCBI)PHKA1
Genatlas (Paris)PHKA1
WikiGenes5255
SOURCE (Princeton)PHKA1
Genetics Home Reference (NIH)PHKA1
Genomic and cartography
GoldenPath hg38 (UCSC)PHKA1  -     chrX:72578814-72714181 -  Xq13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHKA1  -     Xq13.1   [Description]    (hg19-Feb_2009)
EnsemblPHKA1 - Xq13.1 [CytoView hg19]  PHKA1 - Xq13.1 [CytoView hg38]
Mapping of homologs : NCBIPHKA1 [Mapview hg19]  PHKA1 [Mapview hg38]
OMIM300559   311870   
Gene and transcription
Genbank (Entrez)AK123357 AW450116 BC104944 BC143499 BC143501
RefSeq transcript (Entrez)NM_001122670 NM_001172436 NM_002637
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHKA1
Cluster EST : UnigeneHs.201379 [ NCBI ]
CGAP (NCI)Hs.201379
Alternative Splicing GalleryENSG00000067177
Gene ExpressionPHKA1 [ NCBI-GEO ]   PHKA1 [ EBI - ARRAY_EXPRESS ]   PHKA1 [ SEEK ]   PHKA1 [ MEM ]
Gene Expression Viewer (FireBrowse)PHKA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5255
GTEX Portal (Tissue expression)PHKA1
Human Protein AtlasENSG00000067177-PHKA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP46020   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP46020  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP46020
Splice isoforms : SwissVarP46020
PhosPhoSitePlusP46020
Domains : Interpro (EBI)6-hairpin_glycosidase-like    6hp_glycosidase    Glyco_hydro_15/PHK    PHK_A/B_su   
Domain families : Pfam (Sanger)Glyco_hydro_15 (PF00723)   
Domain families : Pfam (NCBI)pfam00723   
Conserved Domain (NCBI)PHKA1
DMDM Disease mutations5255
Blocks (Seattle)PHKA1
SuperfamilyP46020
Human Protein Atlas [tissue]ENSG00000067177-PHKA1 [tissue]
Peptide AtlasP46020
HPRD02415
IPIIPI00004247   IPI00748255   IPI00446678   IPI00216725   
Protein Interaction databases
DIP (DOE-UCLA)P46020
IntAct (EBI)P46020
FunCoupENSG00000067177
BioGRIDPHKA1
STRING (EMBL)PHKA1
ZODIACPHKA1
Ontologies - Pathways
QuickGOP46020
Ontology : AmiGOphosphorylase kinase activity  calmodulin binding  cytosol  plasma membrane  phosphorylase kinase complex  glycogen metabolic process  glycogen catabolic process  generation of precursor metabolites and energy  protein phosphorylation  
Ontology : EGO-EBIphosphorylase kinase activity  calmodulin binding  cytosol  plasma membrane  phosphorylase kinase complex  glycogen metabolic process  glycogen catabolic process  generation of precursor metabolites and energy  protein phosphorylation  
Pathways : KEGGCalcium signaling pathway    Insulin signaling pathway   
NDEx NetworkPHKA1
Atlas of Cancer Signalling NetworkPHKA1
Wikipedia pathwaysPHKA1
Orthology - Evolution
OrthoDB5255
GeneTree (enSembl)ENSG00000067177
Phylogenetic Trees/Animal Genes : TreeFamPHKA1
HOVERGENP46020
HOGENOMP46020
Homologs : HomoloGenePHKA1
Homology/Alignments : Family Browser (UCSC)PHKA1
Gene fusions - Rearrangements
Tumor Fusion PortalPHKA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHKA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHKA1
dbVarPHKA1
ClinVarPHKA1
1000_GenomesPHKA1 
Exome Variant ServerPHKA1
ExAC (Exome Aggregation Consortium)ENSG00000067177
GNOMAD BrowserENSG00000067177
Genetic variants : HAPMAP5255
Genomic Variants (DGV)PHKA1 [DGVbeta]
DECIPHERPHKA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHKA1 
Mutations
ICGC Data PortalPHKA1 
TCGA Data PortalPHKA1 
Broad Tumor PortalPHKA1
OASIS PortalPHKA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHKA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHKA1
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch PHKA1
DgiDB (Drug Gene Interaction Database)PHKA1
DoCM (Curated mutations)PHKA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHKA1 (select a term)
intoGenPHKA1
Cancer3DPHKA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300559    311870   
Orphanet677   
DisGeNETPHKA1
MedgenPHKA1
Genetic Testing Registry PHKA1
NextProtP46020 [Medical]
TSGene5255
GENETestsPHKA1
Target ValidationPHKA1
Huge Navigator PHKA1 [HugePedia]
snp3D : Map Gene to Disease5255
BioCentury BCIQPHKA1
ClinGenPHKA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5255
Chemical/Pharm GKB GenePA33266
Clinical trialPHKA1
Miscellaneous
canSAR (ICR)PHKA1 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHKA1
EVEXPHKA1
GoPubMedPHKA1
iHOPPHKA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:00:22 CET 2017

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