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PFKM (phosphofructokinase, muscle)

Identity

Alias_namesregulatory subunit 122
PFKX
Alias_symbol (synonym)PFK-1
PPP1R122
Other aliasATP-PFK
GSD7
PFK1
PFKA
HGNC (Hugo) PFKM
LocusID (NCBI) 5213
Atlas_Id 47486
Location 12q13.11  [Link to chromosome band 12q13]
Location_base_pair Starts at 48513013 and ends at 48540187 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PFKM (12q13.11) / PFKM (12q13.11)PHLDA3 (1q32.1) / PFKM (12q13.11)SLC11A2 (12q13.12) / PFKM (12q13.11)
TUBA1B (12q13.12) / PFKM (12q13.11)SLC11A2 12q13.12 / PFKM 12q13.11

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Glycogen storage disease type I (GSD I)


External links

Nomenclature
HGNC (Hugo)PFKM   8877
Cards
Entrez_Gene (NCBI)PFKM  5213  phosphofructokinase, muscle
AliasesATP-PFK; GSD7; PFK-1; PFK1; 
PFKA; PFKX; PPP1R122
GeneCards (Weizmann)PFKM
Ensembl hg19 (Hinxton)ENSG00000152556 [Gene_View]  chr12:48513013-48540187 [Contig_View]  PFKM [Vega]
Ensembl hg38 (Hinxton)ENSG00000152556 [Gene_View]  chr12:48513013-48540187 [Contig_View]  PFKM [Vega]
ICGC DataPortalENSG00000152556
TCGA cBioPortalPFKM
AceView (NCBI)PFKM
Genatlas (Paris)PFKM
WikiGenes5213
SOURCE (Princeton)PFKM
Genetics Home Reference (NIH)PFKM
Genomic and cartography
GoldenPath hg19 (UCSC)PFKM  -     chr12:48513013-48540187 +  12q13.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PFKM  -     12q13.11   [Description]    (hg38-Dec_2013)
EnsemblPFKM - 12q13.11 [CytoView hg19]  PFKM - 12q13.11 [CytoView hg38]
Mapping of homologs : NCBIPFKM [Mapview hg19]  PFKM [Mapview hg38]
OMIM232800   610681   
Gene and transcription
Genbank (Entrez)AK126020 AK126229 AK303681 AK308185 AK312284
RefSeq transcript (Entrez)NM_000289 NM_001166686 NM_001166687 NM_001166688
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_016199 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)PFKM
Cluster EST : UnigeneHs.75160 [ NCBI ]
CGAP (NCI)Hs.75160
Alternative Splicing GalleryENSG00000152556
Gene ExpressionPFKM [ NCBI-GEO ]   PFKM [ EBI - ARRAY_EXPRESS ]   PFKM [ SEEK ]   PFKM [ MEM ]
Gene Expression Viewer (FireBrowse)PFKM [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5213
GTEX Portal (Tissue expression)PFKM
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08237   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08237  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08237
Splice isoforms : SwissVarP08237
PhosPhoSitePlusP08237
Domaine pattern : Prosite (Expaxy)PHOSPHOFRUCTOKINASE (PS00433)   
Domains : Interpro (EBI)6-Pfructokinase_euk    ATP_PFK    Phosphofructokinase_CS    Phosphofructokinase_dom   
Domain families : Pfam (Sanger)PFK (PF00365)   
Domain families : Pfam (NCBI)pfam00365   
Conserved Domain (NCBI)PFKM
DMDM Disease mutations5213
Blocks (Seattle)PFKM
PDB (SRS)4OMT   
PDB (PDBSum)4OMT   
PDB (IMB)4OMT   
PDB (RSDB)4OMT   
Structural Biology KnowledgeBase4OMT   
SCOP (Structural Classification of Proteins)4OMT   
CATH (Classification of proteins structures)4OMT   
SuperfamilyP08237
Human Protein AtlasENSG00000152556
Peptide AtlasP08237
HPRD01988
IPIIPI00743142   IPI00219585   IPI00385347   IPI01021448   IPI01022094   IPI01021939   IPI01022422   IPI01022251   IPI01022756   IPI01022591   IPI01023077   IPI01022915   IPI01020668   IPI01021124   IPI01020972   IPI01021437   IPI01021266   IPI01021613   IPI01022846   IPI01022716   IPI01021960   IPI01023030   IPI00465179   
Protein Interaction databases
DIP (DOE-UCLA)P08237
IntAct (EBI)P08237
FunCoupENSG00000152556
BioGRIDPFKM
STRING (EMBL)PFKM
ZODIACPFKM
Ontologies - Pathways
QuickGOP08237
Ontology : AmiGO6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  protein binding  ATP binding  cytosol  6-phosphofructokinase complex  glycogen catabolic process  fructose 6-phosphate metabolic process  fructose 6-phosphate metabolic process  glycolytic process  protein C-terminus binding  apical plasma membrane  kinase binding  positive regulation of insulin secretion  glucose homeostasis  identical protein binding  protein homodimerization activity  muscle cell cellular homeostasis  carbohydrate phosphorylation  metal ion binding  protein oligomerization  canonical glycolysis  fructose binding  extracellular exosome  glycolysis from storage polysaccharide through glucose-1-phosphate  sperm principal piece  
Ontology : EGO-EBI6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  protein binding  ATP binding  cytosol  6-phosphofructokinase complex  glycogen catabolic process  fructose 6-phosphate metabolic process  fructose 6-phosphate metabolic process  glycolytic process  protein C-terminus binding  apical plasma membrane  kinase binding  positive regulation of insulin secretion  glucose homeostasis  identical protein binding  protein homodimerization activity  muscle cell cellular homeostasis  carbohydrate phosphorylation  metal ion binding  protein oligomerization  canonical glycolysis  fructose binding  extracellular exosome  glycolysis from storage polysaccharide through glucose-1-phosphate  sperm principal piece  
Pathways : BIOCARTAPhosphoinositides and their downstream targets. [Genes]   
Pathways : KEGGGlycolysis / Gluconeogenesis    Pentose phosphate pathway    Fructose and mannose metabolism    Galactose metabolism   
NDEx NetworkPFKM
Atlas of Cancer Signalling NetworkPFKM
Wikipedia pathwaysPFKM
Orthology - Evolution
OrthoDB5213
GeneTree (enSembl)ENSG00000152556
Phylogenetic Trees/Animal Genes : TreeFamPFKM
HOVERGENP08237
HOGENOMP08237
Homologs : HomoloGenePFKM
Homology/Alignments : Family Browser (UCSC)PFKM
Gene fusions - Rearrangements
Fusion : MitelmanSLC11A2/PFKM [12q13.12/12q13.11]  [t(12;12)(q13;q13)]  
Fusion: TCGASLC11A2 12q13.12 PFKM 12q13.11 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPFKM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PFKM
dbVarPFKM
ClinVarPFKM
1000_GenomesPFKM 
Exome Variant ServerPFKM
ExAC (Exome Aggregation Consortium)PFKM (select the gene name)
Genetic variants : HAPMAP5213
Genomic Variants (DGV)PFKM [DGVbeta]
DECIPHER (Syndromes)12:48513013-48540187  ENSG00000152556
CONAN: Copy Number AnalysisPFKM 
Mutations
ICGC Data PortalPFKM 
TCGA Data PortalPFKM 
Broad Tumor PortalPFKM
OASIS PortalPFKM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPFKM  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPFKM
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 PFKM
DgiDB (Drug Gene Interaction Database)PFKM
DoCM (Curated mutations)PFKM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PFKM (select a term)
intoGenPFKM
Cancer3DPFKM(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM232800    610681   
Orphanet19   
MedgenPFKM
Genetic Testing Registry PFKM
NextProtP08237 [Medical]
TSGene5213
GENETestsPFKM
Huge Navigator PFKM [HugePedia]
snp3D : Map Gene to Disease5213
BioCentury BCIQPFKM
ClinGenPFKM
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5213
Chemical/Pharm GKB GenePA33216
Clinical trialPFKM
Miscellaneous
canSAR (ICR)PFKM (select the gene name)
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePFKM
EVEXPFKM
GoPubMedPFKM
iHOPPFKM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:21:04 CET 2017

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