Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.
| RefSeq Version | NM_002637.3, 169881272 |
| Length | 6177 bp |
| Structure | linear |
| Update Date | 10-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. |
| Product | phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 1 |
| Comment | 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. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). COMPLETENESS: complete on the 3' end. |
| RefSeq | NP_002628.2 |
| CDS | 302..3973 | Exon (1) | 1..379 | Exon (2) | 1..379 | Exon (3) | 380..538 | Exon (4) | 539..586 | Exon (5) | 587..755 | Exon (6) | 756..838 | Exon (7) | 839..919 | Exon (8) | 920..1018 | Exon (9) | 1019..1165 | Exon (10) | 1166..1219 | Exon (11) | 1220..1342 | Exon (12) | 1343..1438 | Exon (13) | 1439..1546 | Exon (14) | 1547..1625 | Exon (15) | 1626..1760 | Exon (16) | 1761..1870 | Exon (17) | 1871..2015 | Exon (18) | 2016..2094 | Exon (19) | 2095..2261 | Exon (20) | 2262..2438 | Exon (21) | 2439..2530 | Exon (22) | 2531..2670 | Exon (23) | 2671..2827 | Exon (24) | 2828..2907 | Exon (25) | 2908..2986 | Exon (26) | 2987..3116 | Exon (27) | 3117..3218 | Exon (28) | 3219..3334 | Exon (29) | 3335..3373 | Exon (30) | 3374..3544 | Exon (31) | 3545..3598 | Exon (32) | 3599..3799 | Exon (33) | 3800..6161 |
| Translation | MRSRSNSGVRLDGYARLVQQTILCHQNPVTGLLPASYDQKDAWVRDNVYSILAVWGLGLA
YRKNADRDEDKAKAYELEQSVVKLMRGLLHCMIRQVDKVESFKYSQSTKDSLHAKYNTKT
CATVVGDDQWGHLQLDATSVYLLFLAQMTASGLHIIHSLDEVNFIQNLVFYIEAAYKTAD
FGIWERGDKTNQGISELNASSVGMAKAALEALDELDLFGVKGGPQSVIHVLADEVQHCQS
ILNSLLPRASTSKEVDASLLSVVSFPAFAVEDSQLVELTKQEIITKLQGRYGCCRFLRDG
YKTPKEDPNRLYYEPAELKLFENIECEWPLFWTYFILDGVFSGNAEQVQEYKEALEAVLI
KGKNGVPLLPELYSVPPDRVDEEYQNPHTVDRVPMGKLPHMWGQSLYILGSLMAEGFLAP
GEIDPLNRRFSTVPKPDVVVQVSILAETEEIKTILKDKGIYVETIAEVYPIRVQPARILS
HIYSSLGCNNRMKLSGRPYRHMGVLGTSKLYDIRKTIFTFTPQFIDQQQFYLALDNKMIV
EMLRTDLSYLCSRWRMTGQPTITFPISHSMLDEDGTSLNSSILAALRKMQDGYFGGARVQ
TGKLSEFLTTSCCTHLSFMDPGPEGKLYSEDYDDNYDYLESGNWMNDYDSTSHARCGDEV
ARYLDHLLAHTAPHPKLAPTSQKGGLDRFQAAVQTTCDLMSLVTKAKELHVQNVHMYLPT
KLFQASRPSFNLLDSPHPRQENQVPSVRVEIHLPRDQSGEVDFKALVLQLKETSSLQEQA
DILYMLYTMKGPDWNTELYNERSATVRELLTELYGKVGEIRHWGLIRYISGILRKKVEAL
DEACTDLLSHQKHLTVGLPPEPREKTISAPLPYEALTQLIDEASEGDMSISILTQEIMVY
LAMYMRTQPGLFAEMFRLRIGLIIQVMATELAHSLRCSAEEATEGLMNLSPSAMKNLLHH
ILSGKEFGVERSVRPTDSNVSPAISIHEIGAVGATKTERTGIMQLKSEIKQVEFRRLSIS
AESQSPGTSMTPSSGSFPSAYDQQSSKDSRQGQWQRRRRLDGALNRVPVGFYQKVWKVLQ
KCHGLSVEGFVLPSSTTREMTPGEIKFSVHVESVLNRVPQPEYRQLLVEAILVLTMLADI
EIHSIGSIIAVEKIVHIANDLFLQEQKTLGADDTMLAKDPASGICTLLYDSAPSGRFGTM
TYLSKAAATYVQEFLPHSICAMQ
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| Position | Chain | Variation | Link |
| complement(254) | - | g, a | dbSNP:72646184 |
| complement(475) | - | g, a | dbSNP:113140625 |
| complement(2015) | - | t, c | dbSNP:113352627 |
| complement(2734) | - | g, a | dbSNP:61732499 |
| complement(3082) | - | t, c | dbSNP:111858819 |
| complement(4599..4600) | - | , ga | dbSNP:3070316 |
| complement(4599) | - | , ag | dbSNP:60008152 |
| complement(4602..4603) | - | , ag | dbSNP:72318239 |
| complement(5225..5226) | - | , ca | dbSNP:72357630 |
| complement(5237..5238) | - | , ac | dbSNP:111688568 |
| complement(5292) | - | g, a | dbSNP:113496726 |
| complement(5387) | - | g, c | dbSNP:34811076 |
| Gene Symbol | PHKA1 |
| Gene Synonym | MGC132604; PHKA |
| Chromosome | X |
| Locus Map | Xq12-q13 |
| All Transcripts | NM_002637 , NM_001122670 , NM_001172436 |
| Title | Muscle phosphorylase b kinase deficiency revisited . |
| Author | Echaniz-Laguna,A., Akman,H.O., Mohr,M., Tranchant,C., Talmant-Verbist,V., Rolland,M.O. and Dimauro,S. |
| Journal | Neuromuscul. Disord. 20 (2), 125-127 (2010) |
| Title | Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? . |
| Author | 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. |
| Journal | Neurology 70 (20), 1876-1882 (2008) |
| Title | Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase . |
| Author | Pallen,M.J. |
| Journal | Protein Sci. 12 (8), 1804-1807 (2003) |
| Title | Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases . |
| Author | Burwinkel,B., Hu,B., Schroers,A., Clemens,P.R., Moses,S.W., Shin,Y.S., Pongratz,D., Vorgerd,M. and Kilimann,M.W. |
| Journal | Eur. J. Hum. Genet. 11 (7), 516-526 (2003) |
| Title | Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure . |
| Author | Brushia,R.J. and Walsh,D.A. |
| Journal | Front. Biosci. 4, D618-D641 (1999) |
| Title | Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13 . |
| Author | Gossen,M., Wullrich,A. and Kilimann,M.W. |
| Journal | Hum. Genet. 95 (4), 469-470 (1995) |
| Title | Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit . |
| Author | Wehner,M., Clemens,P.R., Engel,A.G. and Kilimann,M.W. |
| Journal | Hum. Mol. Genet. 3 (11), 1983-1987 (1994) |
| Title | The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution . |
| Author | Wullrich,A., Hamacher,C., Schneider,A. and Kilimann,M.W. |
| Journal | J. Biol. Chem. 268 (31), 23208-23214 (1993) |
| Title | Localization of phosphoserine residues in the alpha subunit of rabbit skeletal muscle phosphorylase kinase . |
| Author | Meyer,H.E., Meyer,G.F., Dirks,H. and Heilmeyer,L.M. Jr. |
| Journal | Eur. J. Biochem. 188 (2), 367-376 (1990) |
| Title | Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13 . |
| Author | Francke,U., Darras,B.T., Zander,N.F. and Kilimann,M.W. |
| Journal | Am. J. Hum. Genet. 45 (2), 276-282 (1989) |
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