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Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_002637 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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RefSeq Version NM_002637.3, 169881272
Length 6177 bp
Structure linear
Update Date 17-APR-2013
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.[provided by RefSeq, Feb 2010].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

RefSeq NP_002628.2
CDS 302..3973
Misc Feature(1)290..292
Misc Feature(2)290..292
Misc Feature(3)326..>1618
Misc Feature(4)326..>1618
Misc Feature(5)2504..2506
Misc Feature(6)2573..2575
Misc Feature(7)<2711..3067
Misc Feature(8)2729..2821
Misc Feature(9)3215..3217
Misc Feature(10)3254..3256
Misc Feature(11)3437..3559
Misc Feature(12)3959..3961
Exon (1)1..379
Gene:PHKA1
Gene Synonym:PHKA
Exon (2)380..538
Gene:PHKA1
Gene Synonym:PHKA
Exon (3)539..586
Gene:PHKA1
Gene Synonym:PHKA
Exon (4)587..755
Gene:PHKA1
Gene Synonym:PHKA
Exon (5)756..838
Gene:PHKA1
Gene Synonym:PHKA
Exon (6)839..919
Gene:PHKA1
Gene Synonym:PHKA
Exon (7)920..1018
Gene:PHKA1
Gene Synonym:PHKA
Exon (8)1019..1165
Gene:PHKA1
Gene Synonym:PHKA
Exon (9)1166..1219
Gene:PHKA1
Gene Synonym:PHKA
Exon (10)1220..1342
Gene:PHKA1
Gene Synonym:PHKA
Exon (11)1343..1438
Gene:PHKA1
Gene Synonym:PHKA
Exon (12)1439..1546
Gene:PHKA1
Gene Synonym:PHKA
Exon (13)1547..1625
Gene:PHKA1
Gene Synonym:PHKA
Exon (14)1626..1760
Gene:PHKA1
Gene Synonym:PHKA
Exon (15)1761..1870
Gene:PHKA1
Gene Synonym:PHKA
Exon (16)1871..2015
Gene:PHKA1
Gene Synonym:PHKA
Exon (17)2016..2094
Gene:PHKA1
Gene Synonym:PHKA
Exon (18)2095..2261
Gene:PHKA1
Gene Synonym:PHKA
Exon (19)2262..2438
Gene:PHKA1
Gene Synonym:PHKA
Exon (20)2439..2530
Gene:PHKA1
Gene Synonym:PHKA
Exon (21)2531..2670
Gene:PHKA1
Gene Synonym:PHKA
Exon (22)2671..2827
Gene:PHKA1
Gene Synonym:PHKA
Exon (23)2828..2907
Gene:PHKA1
Gene Synonym:PHKA
Exon (24)2908..2986
Gene:PHKA1
Gene Synonym:PHKA
Exon (25)2987..3116
Gene:PHKA1
Gene Synonym:PHKA
Exon (26)3117..3218
Gene:PHKA1
Gene Synonym:PHKA
Exon (27)3219..3334
Gene:PHKA1
Gene Synonym:PHKA
Exon (28)3335..3373
Gene:PHKA1
Gene Synonym:PHKA
Exon (29)3374..3544
Gene:PHKA1
Gene Synonym:PHKA
Exon (30)3545..3598
Gene:PHKA1
Gene Synonym:PHKA
Exon (31)3599..3799
Gene:PHKA1
Gene Synonym:PHKA
Exon (32)3800..6161
Gene:PHKA1
Gene Synonym:PHKA
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(345)-g, cdbSNP:150678185
complement(386)-dbSNP:
complement(386)-t, cdbSNP:142920598
complement(475)-g, adbSNP:113140625
complement(500)-g, adbSNP:148540646
complement(689)-dbSNP:
complement(689)-c, adbSNP:151085366
complement(730)-g, adbSNP:138066694
complement(779)-dbSNP:
complement(779)-t, cdbSNP:201601894
complement(793)-g, adbSNP:149354112
complement(837)-g, adbSNP:199608903
complement(874)-dbSNP:
complement(874)-g, cdbSNP:200904768
complement(941)-dbSNP:
complement(941)-t, cdbSNP:139006270
complement(968)-g, adbSNP:137852548
complement(1044)-dbSNP:
complement(1044)-t, cdbSNP:147219387
complement(1051)-t, cdbSNP:201801654
complement(1169)-dbSNP:
complement(1169)-g, adbSNP:138752449
complement(1191)-g, adbSNP:138195744
complement(1197)-t, adbSNP:137852547
complement(1201)-t, adbSNP:150357392
complement(1358)-dbSNP:
complement(1358)-t, cdbSNP:201556231
complement(1442)-dbSNP:
complement(1442)-t, cdbSNP:141251024
complement(1515)-g, adbSNP:199582889
complement(1771)-dbSNP:
complement(1771)-g, adbSNP:186513575
complement(1841)-g, adbSNP:181530232
complement(1879)-dbSNP:
complement(1879)-t, gdbSNP:199880728
complement(1965)-t, cdbSNP:148224624
complement(1997)-t, cdbSNP:181596724
complement(2015)-t, cdbSNP:113352627
complement(2041)-dbSNP:
complement(2041)-t, cdbSNP:143064948
complement(2077)-c, adbSNP:140806500
complement(2088)-t, cdbSNP:146411161
complement(2103)-dbSNP:
complement(2103)-g, adbSNP:145234109
complement(2274)-dbSNP:
complement(2274)-t, cdbSNP:141479442
complement(2320)-g, cdbSNP:201801160
complement(2361)-t, cdbSNP:145394237
complement(2364)-t, cdbSNP:201234013
complement(2413)-g, adbSNP:150044079
complement(2472)-dbSNP:
complement(2472)-t, cdbSNP:139339661
complement(2480)-g, adbSNP:151279562
complement(2481)-t, cdbSNP:202211413
complement(2636)-dbSNP:
complement(2636)-t, gdbSNP:144670958
complement(2666)-t, cdbSNP:140721100
complement(2720)-dbSNP:
complement(2720)-t, cdbSNP:147256118
complement(2734)-g, adbSNP:61732499
complement(2735)-t, cdbSNP:200422936
complement(2763)-t, cdbSNP:139803629
complement(2784)-t, cdbSNP:144583035
complement(2853)-dbSNP:
complement(2853)-t, cdbSNP:149303903
complement(2919)-dbSNP:
complement(2919)-t, cdbSNP:138561213
complement(3000)-dbSNP:
complement(3000)-t, adbSNP:200835818
complement(3081)-g, adbSNP:201526819
complement(3082)-t, cdbSNP:111858819
complement(3217)-dbSNP:
complement(3217)-g, adbSNP:150117305
complement(3239)-dbSNP:
complement(3239)-t, cdbSNP:142501612
complement(3339)-dbSNP:
complement(3339)-t, cdbSNP:137936397
complement(3381)-dbSNP:
complement(3381)-g, cdbSNP:145272281
complement(3421)-t, cdbSNP:140225187
complement(3443)-c, adbSNP:200283229
complement(3444)-t, cdbSNP:151120187
complement(3471)-t, cdbSNP:184743934
complement(3635)-dbSNP:
complement(3635)-t, gdbSNP:137852546
complement(3651)-t, cdbSNP:143802511
complement(3665)-g, cdbSNP:202007590
complement(3736)-g, adbSNP:148981522
complement(3740)-t, cdbSNP:145791688
complement(3812)-t, cdbSNP:144813238
complement(3824)-t, cdbSNP:201573707
complement(3842)-g, cdbSNP:140865522
complement(4046)-t, gdbSNP:189993312
complement(4435)-g, adbSNP:186401922
complement(4473)-t, gdbSNP:148465718
complement(4601..4602)-, gadbSNP:3070316
complement(4602..4603)-, agdbSNP:72318239
complement(4603)-, agdbSNP:60008152
complement(4777)-g, adbSNP:144538626
complement(4851)-t, cdbSNP:182643550
complement(5212)-t, cdbSNP:199689345
complement(5230)-t, cdbSNP:190794568
complement(5235..5236)-, cadbSNP:72357630
complement(5237..5238)-, acdbSNP:111688568
complement(5292)-g, adbSNP:113496726
complement(5348)-t, cdbSNP:142925152
complement(5387)-g, cdbSNP:34811076
complement(5518)-g, adbSNP:187366909
complement(5701)-c, adbSNP:138901379
complement(5785)-g, adbSNP:182287866
Gene SymbolPHKA1
Gene SynonymPHKA
ChromosomeX
Locus MapXq12-q13
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001122670 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 2, mRNA. In-stock $1198.00 $1149.00 16
NM_001172436 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 3, mRNA. On-demand $1699.00 25
NM_002637 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. On-demand $1699.00 25
Title Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? .
Author 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.
Journal Neurology 78 (4), 265-268 (2012)
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 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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