LOCUS       NP_002628               1223 aa            linear   PRI 28-APR-2025
DEFINITION  phosphorylase b kinase regulatory subunit alpha, skeletal muscle
            isoform isoform 1 [Homo sapiens].
ACCESSION   NP_002628
VERSION     NP_002628.2
DBSOURCE    REFSEQ: accession NM_002637.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1223)
  AUTHORS   Bisciglia,M., Froissart,R., Bedat-Millet,A.L., Romero,N.B.,
            Pettazzoni,M., Hogrel,J.Y., Petit,F.M. and Stojkovic,T.
  TITLE     A novel PHKA1 mutation associating myopathy and cognitive
            impairment: Expanding the spectrum of phosphorylase kinase b (PhK)
            deficiency
  JOURNAL   J Neurol Sci 424, 117391 (2021)
   PUBMED   33799212
  REMARK    GeneRIF: A novel PHKA1 mutation associating myopathy and cognitive
            impairment: Expanding the spectrum of phosphorylase kinase b (PhK)
            deficiency.
REFERENCE   2  (residues 1 to 1223)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 1223)
  AUTHORS   Preisler,N., Orngreen,M.C., Echaniz-Laguna,A., Laforet,P.,
            Lonsdorfer-Wolf,E., Doutreleau,S., Geny,B., Akman,H.O., Dimauro,S.
            and Vissing,J.
  TITLE     Muscle phosphorylase kinase deficiency: a neutral metabolic variant
            or a disease?
  JOURNAL   Neurology 78 (4), 265-268 (2012)
   PUBMED   22238410
  REMARK    GeneRIF: muscle PHKA deficiency may present as an almost
            asymptomatic condition, despite a mild impairment of muscle
REFERENCE   4  (residues 1 to 1223)
  AUTHORS   Echaniz-Laguna,A., Akman,H.O., Mohr,M., Tranchant,C.,
            Talmant-Verbist,V., Rolland,M.O. and Dimauro,S.
  TITLE     Muscle phosphorylase b kinase deficiency revisited
  JOURNAL   Neuromuscul Disord 20 (2), 125-127 (2010)
   PUBMED   20080404
REFERENCE   5  (residues 1 to 1223)
  AUTHORS   Orngreen,M.C., Schelhaas,H.J., Jeppesen,T.D., Akman,H.O.,
            Wevers,R.A., Andersen,S.T., ter Laak,H.J., van Diggelen,O.P.,
            DiMauro,S. and Vissing,J.
  TITLE     Is muscle glycogenolysis impaired in X-linked phosphorylase b
            kinase deficiency?
  JOURNAL   Neurology 70 (20), 1876-1882 (2008)
   PUBMED   18401027
  REMARK    GeneRIF: X-linked PHK deficiency causes a mild metabolic myopathy
            with blunted muscle glycogen breakdown and impaired lactate
            production during dynamic exercise, which impairs oxidative
            capacity only marginally
REFERENCE   6  (residues 1 to 1223)
  AUTHORS   Gossen,M., Wullrich,A. and Kilimann,M.W.
  TITLE     Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13
  JOURNAL   Hum Genet 95 (4), 469-470 (1995)
   PUBMED   7705849
REFERENCE   7  (residues 1 to 1223)
  AUTHORS   Wehner,M., Clemens,P.R., Engel,A.G. and Kilimann,M.W.
  TITLE     Human muscle glycogenosis due to phosphorylase kinase deficiency
            associated with a nonsense mutation in the muscle isoform of the
            alpha subunit
  JOURNAL   Hum Mol Genet 3 (11), 1983-1987 (1994)
   PUBMED   7874115
REFERENCE   8  (residues 1 to 1223)
  AUTHORS   Herbert,M., Goldstein,J.L., Rehder,C., Austin,S., Kishnani,P.S. and
            Bali,D.S.
  TITLE     Phosphorylase Kinase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21634085
REFERENCE   9  (residues 1 to 1223)
  AUTHORS   Meyer,H.E., Meyer,G.F., Dirks,H. and Heilmeyer,L.M. Jr.
  TITLE     Localization of phosphoserine residues in the alpha subunit of
            rabbit skeletal muscle phosphorylase kinase
  JOURNAL   Eur J Biochem 188 (2), 367-376 (1990)
   PUBMED   2108025
REFERENCE   10 (residues 1 to 1223)
  AUTHORS   Francke,U., Darras,B.T., Zander,N.F. and Kilimann,M.W.
  TITLE     Assignment of human genes for phosphorylase kinase subunits alpha
            (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13
  JOURNAL   Am J Hum Genet 45 (2), 276-282 (1989)
   PUBMED   2757032
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC240504.3, DR002787.1,
            BC104944.1, X73874.1, BJ998054.1, BX647542.1 and AW450116.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 14, 2008 this sequence version replaced NP_002628.1.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X73874.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373542.9/ ENSP00000362643.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1223
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     Protein         1..1223
                     /product="phosphorylase b kinase regulatory subunit alpha,
                     skeletal muscle isoform isoform 1"
                     /EC_number="2.7.11.19"
                     /note="phosphorylase kinase, alpha 1 (muscle), muscle
                     glycogenosis; phosphorylase kinase alpha M subunit"
                     /calculated_mol_wt=137182
     Region          8..>439
                     /region_name="Glyco_hydro_15"
                     /note="Glycosyl hydrolases family 15; pfam00723"
                     /db_xref="CDD:395586"
     Site            629
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64649; propagated from
                     UniProtKB/Swiss-Prot (P46020.2)"
     Site            729
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46020.2)"
     Site            735
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18691976; propagated from
                     UniProtKB/Swiss-Prot (P46020.2)"
     Site            758
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P46020.2)"
     Region          <804..922
                     /region_name="Bac_rhamnosid6H"
                     /note="Bacterial alpha-L-rhamnosidase 6 hairpin
                     glycosidase domain; cl46875"
                     /db_xref="CDD:481215"
     Region          810..840
                     /region_name="Calmodulin-binding. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P46020.2)"
     Region          933..>1134
                     /region_name="KPBB_C"
                     /note="Phosphorylase b kinase C-terminal domain;
                     pfam19292"
                     /db_xref="CDD:437124"
     Site            972
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P46020.2)"
     Site            981
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P46020.2)"
     Site            985
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P46020.2)"
     Site            1007
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by autocatalysis.
                     /evidence=ECO:0000250|UniProtKB:P18688; propagated from
                     UniProtKB/Swiss-Prot (P46020.2)"
     Site            1018
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PKA.
                     /evidence=ECO:0000250|UniProtKB:P18688; propagated from
                     UniProtKB/Swiss-Prot (P46020.2)"
     Site            1020
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18688; propagated from
                     UniProtKB/Swiss-Prot (P46020.2)"
     Region          1021..1056
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P46020.2)"
     Site            1023
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P18688; propagated from
                     UniProtKB/Swiss-Prot (P46020.2)"
     Region          1046..1086
                     /region_name="Calmodulin-binding. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (P46020.2)"
     Site            1113
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q64649; propagated from
                     UniProtKB/Swiss-Prot (P46020.2)"
     CDS             1..1223
                     /gene="PHKA1"
                     /gene_synonym="PHKA"
                     /coded_by="NM_002637.4:427..4098"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14421.1"
                     /db_xref="GeneID:5255"
                     /db_xref="HGNC:HGNC:8925"
                     /db_xref="MIM:311870"
ORIGIN      
        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
//
