LOCUS       NM_006213               2074 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens phosphorylase kinase catalytic subunit gamma 1
            (PHKG1), transcript variant 2, mRNA.
ACCESSION   NM_006213
VERSION     NM_006213.5
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  (bases 1 to 2074)
  AUTHORS   Gu,J., Qi,Y., Lu,Y., Tao,Q., Yu,D., Jiang,C., Liu,J. and Liang,X.
  TITLE     Lung adenocarcinoma-derived vWF promotes tumor metastasis by
            regulating PHKG1-mediated glycogen metabolism
  JOURNAL   Cancer Sci 113 (4), 1362-1376 (2022)
   PUBMED   35150045
  REMARK    GeneRIF: Lung adenocarcinoma-derived vWF promotes tumor metastasis
            by regulating PHKG1-mediated glycogen metabolism.
REFERENCE   2  (bases 1 to 2074)
  AUTHORS   Winchester,J.S., Rouchka,E.C., Rowland,N.S. and Rice,N.A.
  TITLE     In Silico characterization of phosphorylase kinase: evidence for an
            alternate intronic polyadenylation site in PHKG1
  JOURNAL   Mol Genet Metab 92 (3), 234-242 (2007)
   PUBMED   17692548
REFERENCE   3  (bases 1 to 2074)
  AUTHORS   Burwinkel,B., Hu,B., Schroers,A., Clemens,P.R., Moses,S.W.,
            Shin,Y.S., Pongratz,D., Vorgerd,M. and Kilimann,M.W.
  TITLE     Muscle glycogenosis with low phosphorylase kinase activity:
            mutations in PHKA1, PHKG1 or six other candidate genes explain only
            a minority of cases
  JOURNAL   Eur J Hum Genet 11 (7), 516-526 (2003)
   PUBMED   12825073
REFERENCE   4  (bases 1 to 2074)
  AUTHORS   Gevaert,K., Goethals,M., Martens,L., Van Damme,J., Staes,A.,
            Thomas,G.R. and Vandekerckhove,J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   5  (bases 1 to 2074)
  AUTHORS   Liu,F., Iqbal,K., Grundke-Iqbal,I. and Gong,C.X.
  TITLE     Involvement of aberrant glycosylation in phosphorylation of tau by
            cdk5 and GSK-3beta
  JOURNAL   FEBS Lett 530 (1-3), 209-214 (2002)
   PUBMED   12387894
REFERENCE   6  (bases 1 to 2074)
  AUTHORS   Drewes,G., Trinczek,B., Illenberger,S., Biernat,J.,
            Schmitt-Ulms,G., Meyer,H.E., Mandelkow,E.M. and Mandelkow,E.
  TITLE     Microtubule-associated protein/microtubule affinity-regulating
            kinase (p110mark). A novel protein kinase that regulates
            tau-microtubule interactions and dynamic instability by
            phosphorylation at the Alzheimer-specific site serine 262
  JOURNAL   J Biol Chem 270 (13), 7679-7688 (1995)
   PUBMED   7706316
REFERENCE   7  (bases 1 to 2074)
  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  (bases 1 to 2074)
  AUTHORS   Harris,W.R., Malencik,D.A., Johnson,C.M., Carr,S.A., Roberts,G.D.,
            Byles,C.A., Anderson,S.R., Heilmeyer,L.M. Jr., Fischer,E.H. and
            Crabb,J.W.
  TITLE     Purification and characterization of catalytic fragments of
            phosphorylase kinase gamma subunit missing a calmodulin-binding
            domain
  JOURNAL   J Biol Chem 265 (20), 11740-11745 (1990)
   PUBMED   2365696
REFERENCE   9  (bases 1 to 2074)
  AUTHORS   Jones,T.A., da Cruz e Silva,E.F., Spurr,N.K., Sheer,D. and
            Cohen,P.T.
  TITLE     Localisation of the gene encoding the catalytic gamma subunit of
            phosphorylase kinase to human chromosome bands 7p12-q21
  JOURNAL   Biochim Biophys Acta 1048 (1), 24-29 (1990)
   PUBMED   2297530
REFERENCE   10 (bases 1 to 2074)
  AUTHORS   Dasgupta,M., Honeycutt,T. and Blumenthal,D.K.
  TITLE     The gamma-subunit of skeletal muscle phosphorylase kinase contains
            two noncontiguous domains that act in concert to bind calmodulin
  JOURNAL   J Biol Chem 264 (29), 17156-17163 (1989)
   PUBMED   2507540
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB171823.1 and BC051327.1.
            
            On Feb 27, 2020 this sequence version replaced NM_006213.4.
            
            Summary: This gene is a member of the Ser/Thr protein kinase family
            and encodes a protein with one protein kinase domain and two
            calmodulin-binding domains. This protein is the catalytic member of
            a 16 subunit protein kinase complex which contains equimolar ratios
            of 4 subunit types. The complex is a crucial glycogenolytic
            regulatory enzyme. This gene has two pseudogenes at chromosome
            7q11.21 and one at chromosome 11p11.12. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting protein (isoform 2) is
            shorter compared to 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 :: BC051327.1, SRR14038193.3031490.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297373.7/ ENSP00000297373.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                DB171823.1         45-62
            19-2074             BC051327.1         1-2056
FEATURES             Location/Qualifiers
     source          1..2074
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.2"
     gene            1..2074
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /note="phosphorylase kinase catalytic subunit gamma 1"
                     /db_xref="GeneID:5260"
                     /db_xref="HGNC:HGNC:8930"
                     /db_xref="MIM:172470"
     exon            1..117
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /inference="alignment:Splign:2.1.0"
     exon            118..234
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /inference="alignment:Splign:2.1.0"
     CDS             152..1315
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /EC_number="2.7.11.1"
                     /EC_number="2.7.11.19"
                     /EC_number="2.7.11.26"
                     /note="isoform 2 is encoded by transcript variant 2;
                     phosphorylase kinase subunit gamma-1; PHK-gamma-M;
                     serine/threonine-protein kinase PHKG1; phosphorylase
                     kinase, gamma 1 (muscle); phosphorylase kinase gamma
                     subunit 1"
                     /codon_start=1
                     /product="phosphorylase b kinase gamma catalytic chain,
                     skeletal muscle/heart isoform isoform 2"
                     /protein_id="NP_006204.1"
                     /db_xref="CCDS:CCDS5525.1"
                     /db_xref="GeneID:5260"
                     /db_xref="HGNC:HGNC:8930"
                     /db_xref="MIM:172470"
                     /translation="MTRDEALPDSHSAQDFYENYEPKEILGRGVSSVVRRCIHKPTSQ
                     EYAVKVIDVTGGGSFSPEEVRELREATLKEVDILRKVSGHPNIIQLKDTYETNTFFFL
                     VFDLMKRGELFDYLTEKVTLSEKETRKIMRALLEVICTLHKLNIVHRDLKPENILLDD
                     NMNIKLTDFGFSCQLEPGERLREVCGTPSYLAPEIIECSMNEDHPGYGKEVDMWSTGV
                     IMYTLLAGSPPFWHRKQMLMLRMIMSGNYQFGSPEWDDYSDTVKDLVSRFLVVQPQNR
                     YTAEEALAHPFFQQYLVEEVRHFSPRGKFKVIALTVLASVRIYYQYRRVKPVTREIVI
                     RDPYALRPLRRLIDAYAFRIYGHWVKKGQQQNRAALFENTPKAVLLSLAEEDY"
     exon            235..413
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /inference="alignment:Splign:2.1.0"
     exon            414..468
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /inference="alignment:Splign:2.1.0"
     exon            469..534
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /inference="alignment:Splign:2.1.0"
     exon            535..698
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /inference="alignment:Splign:2.1.0"
     exon            699..789
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /inference="alignment:Splign:2.1.0"
     exon            790..943
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1069
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..2074
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2074
                     /gene="PHKG1"
                     /gene_synonym="PHKG"
                     /note="major polyA site"
ORIGIN      
        1 agatgatatc ttccaagtgt ctgctcggga cacggcttca gccctctgtg gtcccctctc
       61 cccggggggc tttgggattc ttgtcaagct ccttcaagag cctgcaagca cttaaccagc
      121 cacccagagt tccctcactg aagatctgag catgacccgg gacgaggcac tgccggactc
      181 tcattctgca caggacttct atgagaatta tgagcccaaa gagatcctgg gcaggggcgt
      241 tagcagtgtg gtcaggcgat gcatccacaa gcccacgagc caggagtacg ccgtgaaggt
      301 catcgacgtc accggtggag gcagcttcag cccggaggag gtgcgggagc tgcgagaagc
      361 cacgctgaag gaggtggaca tcctgcgcaa ggtctcaggg caccccaaca tcatacagct
      421 gaaggacact tatgagacca acactttctt cttcttggtg tttgacctga tgaagagagg
      481 ggagctcttt gactacctca ctgagaaggt caccttgagt gagaaggaaa ccagaaagat
      541 catgcgagct ctgctggagg tgatctgcac cttgcacaaa ctcaacatcg tgcaccggga
      601 cctgaagccc gagaacattc tcttggatga caacatgaac atcaagctca cagactttgg
      661 cttttcctgc cagctggagc cgggagagag gctgcgagag gtctgcggga cccccagtta
      721 cctggcccct gagattatcg agtgctccat gaatgaggac cacccgggct acgggaaaga
      781 ggtggacatg tggagcactg gcgtcatcat gtacacgctg ctggccggct ccccgccctt
      841 ctggcaccgg aagcagatgc tgatgctgag gatgatcatg agcggcaact accagtttgg
      901 ctcgcccgag tgggatgatt actcggacac cgtgaaggac ctggtctccc gattcctggt
      961 ggtgcaaccc cagaaccgct acacagcgga agaggccttg gcacacccct tcttccagca
     1021 gtacttggtg gaggaagtgc ggcacttcag cccccggggg aagttcaagg tgatcgctct
     1081 gaccgtgctg gcttcagtgc ggatctacta ccagtaccgc cgggtgaagc ctgtgacccg
     1141 ggagatcgtc atccgagacc cctatgccct ccggcctctg cgccggctca tcgacgccta
     1201 cgctttccga atctatggcc actgggtgaa gaaggggcag cagcagaacc gggcagccct
     1261 tttcgagaac acacccaagg ccgtgctcct ctccctggcc gaggaggact actgaggggc
     1321 tggccagtca gggagggcta gggggcaggt ggggagggga agccatggaa atacaagtca
     1381 aaggggtgag atgcgtgcag gcctctgcag aaggagcact tggccctggc caggaacccc
     1441 tggaactgag gccacgatcc cctctcaaag gctgtgcaca agggaagtgg gtgttcccac
     1501 cacacagcaa tacctgcagg ctggggcagg ccctgggtgg gcagagatca cacgtggcct
     1561 gagaaccagg aaccccctgc tcctctactt cctagatgag ccaccatctc catttctctt
     1621 taggggaggc ccagagttac tgacactcag gctttcttcc cttagggtca cagggtgagg
     1681 atcaaagaca caaatgtctg agatacacaa ttgcaggaga ttttattggc cccatgacat
     1741 ccagtgacag tgtgggagca ggctactctc cagggacatg tttttggagg catatggaga
     1801 agggggccca ggcgaggtgg ctcacacctg taatcccagc actttgggag gtcgaggtgg
     1861 gaggatcgct tgaggccagg agttcgagac caccctgggc aacagagcga gatcccatca
     1921 ctacaaaaat tcaaaaaatt agccaggcat ggtggtgcac acttgtagtc ccagctactc
     1981 aggaggctga ggtgggagaa ttgcttgggc ccaggaattc aaggctagag tgagccgtga
     2041 tcaccagtgc actctagcct gggcaacaga gaaa
//
