PHKA1

Protein identityUniProt · HPA

UniProt accession

P46020

Gene

PHKA1

Ensembl

ENSG00000067177

Chromosome

X

Canonical length

1223 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Vesicles,Cytosol

OverviewNCBI Gene

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

1223 residues, UniProt reviewed canonical sequence.

>P46020|PHKA1
     1  MRSRSNSGVR LDGYARLVQQ TILCHQNPVT GLLPASYDQK DAWVRDNVYS ILAVWGLGLA
    61  YRKNADRDED KAKAYELEQS VVKLMRGLLH CMIRQVDKVE SFKYSQSTKD SLHAKYNTKT
   121  CATVVGDDQW GHLQLDATSV YLLFLAQMTA SGLHIIHSLD EVNFIQNLVF YIEAAYKTAD
   181  FGIWERGDKT NQGISELNAS SVGMAKAALE ALDELDLFGV KGGPQSVIHV LADEVQHCQS
   241  ILNSLLPRAS TSKEVDASLL SVVSFPAFAV EDSQLVELTK QEIITKLQGR YGCCRFLRDG
   301  YKTPKEDPNR LYYEPAELKL FENIECEWPL FWTYFILDGV FSGNAEQVQE YKEALEAVLI
   361  KGKNGVPLLP ELYSVPPDRV DEEYQNPHTV DRVPMGKLPH MWGQSLYILG SLMAEGFLAP
   421  GEIDPLNRRF STVPKPDVVV QVSILAETEE IKTILKDKGI YVETIAEVYP IRVQPARILS
   481  HIYSSLGCNN RMKLSGRPYR HMGVLGTSKL YDIRKTIFTF TPQFIDQQQF YLALDNKMIV
   541  EMLRTDLSYL CSRWRMTGQP TITFPISHSM LDEDGTSLNS SILAALRKMQ DGYFGGARVQ
   601  TGKLSEFLTT SCCTHLSFMD PGPEGKLYSE DYDDNYDYLE SGNWMNDYDS TSHARCGDEV
   661  ARYLDHLLAH TAPHPKLAPT SQKGGLDRFQ AAVQTTCDLM SLVTKAKELH VQNVHMYLPT
   721  KLFQASRPSF NLLDSPHPRQ ENQVPSVRVE IHLPRDQSGE VDFKALVLQL KETSSLQEQA
   781  DILYMLYTMK GPDWNTELYN ERSATVRELL TELYGKVGEI RHWGLIRYIS GILRKKVEAL
   841  DEACTDLLSH QKHLTVGLPP EPREKTISAP LPYEALTQLI DEASEGDMSI SILTQEIMVY
   901  LAMYMRTQPG LFAEMFRLRI GLIIQVMATE LAHSLRCSAE EATEGLMNLS PSAMKNLLHH
   961  ILSGKEFGVE RSVRPTDSNV SPAISIHEIG AVGATKTERT GIMQLKSEIK QVEFRRLSIS
  1021  AESQSPGTSM TPSSGSFPSA YDQQSSKDSR QGQWQRRRRL DGALNRVPVG FYQKVWKVLQ
  1081  KCHGLSVEGF VLPSSTTREM TPGEIKFSVH VESVLNRVPQ PEYRQLLVEA ILVLTMLADI
  1141  EIHSIGSIIA VEKIVHIAND LFLQEQKTLG ADDTMLAKDP ASGICTLLYD SAPSGRFGTM
  1201  TYLSKAAATY VQEFLPHSIC AMQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHKA1 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

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

96 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PHKA1.

Disease | AllUniProt

Conditions PHKA1 is implicated in, by any mechanism.

• Glycogen storage disease 9D (GSD9D) MIM:300559

Disease | GeneticClinVar

51 pathogenic / likely-pathogenic of 928 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Glycogen storage disease IXd
• Glycogen phosphorylase kinase deficiency
• Thyroid cancer, nonmedullary, 1
• Nonpapillary renal cell carcinoma
• Inborn genetic diseases

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)

0.55

gnomAD pLI

0

gnomAD missense Z

1.88

DepMap mean gene effect

-0.09

DepMap dependency class

none

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

• generation of precursor metabolites and energy
• glycogen metabolic process
• positive regulation of glycogen catabolic process

Molecular functions

• calmodulin binding
• phosphorylase kinase activity

Cellular components

• cytosol
• phosphorylase kinase complex
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Phosphorylase kinase alpha/beta subunit
• Six-hairpin glycosidase superfamily
• GH15-like domain
• Six-hairpin glycosidase-like superfamily
• Phosphorylase b kinase regulatory subunit alpha/beta, C-terminal domain
• Glycosyl hydrolases family 15
• Phosphorylase b kinase C-terminal domain

KeywordsUniProt

• Calmodulin-binding
• Carbohydrate metabolism
• Cell membrane
• Glycogen metabolism
• Glycogen storage disease
• Lipoprotein
• Membrane
• Muscle protein
• Phosphoprotein
• Prenylation

InteractionsUniProt · HPA

Protein binding partners of PHKA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CALM1
• PHKG2