Seroatlas · Human Serome Atlas

PFKM

ATP-dependent 6-phosphofructokinase, muscle type

Also known as: PFK-1, PFKAM_HUMAN, PFKX, PPP1R122

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P08237
Gene: PFKM
Ensembl: ENSG00000152556
Chromosome: 12
Canonical length: 780 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Endoplasmic reticulum,Principal piece

OverviewNCBI Gene

Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

780 residues, UniProt reviewed canonical sequence.

>P08237|PFKM
     1  MTHEEHHAAK TLGIGKAIAV LTSGGDAQGM NAAVRAVVRV GIFTGARVFF VHEGYQGLVD
    61  GGDHIKEATW ESVSMMLQLG GTVIGSARCK DFREREGRLR AAYNLVKRGI TNLCVIGGDG
   121  SLTGADTFRS EWSDLLSDLQ KAGKITDEEA TKSSYLNIVG LVGSIDNDFC GTDMTIGTDS
   181  ALHRIMEIVD AITTTAQSHQ RTFVLEVMGR HCGYLALVTS LSCGADWVFI PECPPDDDWE
   241  EHLCRRLSET RTRGSRLNII IVAEGAIDKN GKPITSEDIK NLVVKRLGYD TRVTVLGHVQ
   301  RGGTPSAFDR ILGSRMGVEA VMALLEGTPD TPACVVSLSG NQAVRLPLME CVQVTKDVTK
   361  AMDEKKFDEA LKLRGRSFMN NWEVYKLLAH VRPPVSKSGS HTVAVMNVGA PAAGMNAAVR
   421  STVRIGLIQG NRVLVVHDGF EGLAKGQIEE AGWSYVGGWT GQGGSKLGTK RTLPKKSFEQ
   481  ISANITKFNI QGLVIIGGFE AYTGGLELME GRKQFDELCI PFVVIPATVS NNVPGSDFSV
   541  GADTALNTIC TTCDRIKQSA AGTKRRVFII ETMGGYCGYL ATMAGLAAGA DAAYIFEEPF
   601  TIRDLQANVE HLVQKMKTTV KRGLVLRNEK CNENYTTDFI FNLYSEEGKG IFDSRKNVLG
   661  HMQQGGSPTP FDRNFATKMG AKAMNWMSGK IKESYRNGRI FANTPDSGCV LGMRKRALVF
   721  QPVAELKDQT DFEHRIPKEQ WWLKLRPILK ILAKYEIDLD TSDHAHLEHI TRKRSGEAAV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PFKM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.2
Highest tissue expression: 1,472 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 1,472 nTPM
tongue: 1,300 nTPM
heart muscle: 270 nTPM
parathyroid gland: 128 nTPM
choroid plexus: 84 nTPM
cerebral cortex: 81 nTPM

Single-cell type

thymic myoid cells: 408 nCPM
cardiomyocytes: 240 nCPM
myonuclei: 175 nCPM
müller glia: 115 nCPM
late primary spermatocytes: 95 nCPM
retinal horizontal cells: 64 nCPM

Immune cell

memory B-cell: 8.8 nTPM
naive B-cell: 8.4 nTPM
eosinophil: 7.8 nTPM
myeloid DC: 5.6 nTPM
naive CD4 T-cell: 4.3 nTPM
memory CD4 T-cell: 3.6 nTPM

Brain region

hypothalamus: 92 nTPM
thalamus: 89 nTPM
pons: 84 nTPM
cerebral cortex: 82 nTPM
cerebellum: 81 nTPM
medulla oblongata: 74 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PFKM.

Disease | AllUniProt

Conditions PFKM is implicated in, by any mechanism.

Glycogen storage disease 7 (GSD7) MIM:232800

Disease | GeneticClinVar

134 pathogenic / likely-pathogenic of 1,118 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on PFKM was assayed in.

HTLV-1-associated myelopathy/tropical spastic paraparesis T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.97
gnomAD pLI: 0
gnomAD missense Z: 2.36
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

canonical glycolysis
fructose 1,6-bisphosphate metabolic process
fructose 6-phosphate metabolic process
glucose homeostasis
glycogen catabolic process
glycolytic process
muscle cell cellular homeostasis
positive regulation of insulin secretion
positive regulation of transcription by RNA polymerase II
glycolysis from storage polysaccharide through glucose-1-phosphate
glycolytic process through fructose-6-phosphate

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PFKM in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PFKM as an antibody target. Whether an autoantibody or antibody against PFKM could matter depends on whether native PFKM is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PFKM is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PFKM as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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