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Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000293 Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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RefSeq Version NM_000293.2, 169808423
Length 5491 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.
Product phosphorylase b kinase regulatory subunit beta isoform a
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, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, 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 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010].


Transcript Variant: This variant (1) encodes the longer isoform (a).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.


##Evidence-Data-START## Transcript exon combination :: X84908.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083, ERS025084 [ECO:0000348] ##Evidence-Data-END##

RefSeq NP_000284.1
CDS 53..3334
Misc Feature(1)71..139
Misc Feature(2)71..139
Misc Feature(3)131..133
Misc Feature(4)197..>829
Misc Feature(5)<2303..2686
Misc Feature(6)2354..2437
Misc Feature(7)2810..2905
Exon (1)1..128
Gene:PHKB
Gene Synonym:PHKB
Exon (2)129..218
Gene:PHKB
Gene Synonym:PHKB
Exon (3)219..357
Gene:PHKB
Gene Synonym:PHKB
Exon (4)358..457
Gene:PHKB
Gene Synonym:PHKB
Exon (5)458..565
Gene:PHKB
Gene Synonym:PHKB
Exon (6)566..646
Gene:PHKB
Gene Synonym:PHKB
Exon (7)647..762
Gene:PHKB
Gene Synonym:PHKB
Exon (8)763..826
Gene:PHKB
Gene Synonym:PHKB
Exon (9)827..922
Gene:PHKB
Gene Synonym:PHKB
Exon (10)923..1120
Gene:PHKB
Gene Synonym:PHKB
Exon (11)1121..1178
Gene:PHKB
Gene Synonym:PHKB
Exon (12)1179..1256
Gene:PHKB
Gene Synonym:PHKB
Exon (13)1257..1415
Gene:PHKB
Gene Synonym:PHKB
Exon (14)1416..1510
Gene:PHKB
Gene Synonym:PHKB
Exon (15)1511..1566
Gene:PHKB
Gene Synonym:PHKB
Exon (16)1567..1660
Gene:PHKB
Gene Synonym:PHKB
Exon (17)1661..1744
Gene:PHKB
Gene Synonym:PHKB
Exon (18)1745..1849
Gene:PHKB
Gene Synonym:PHKB
Exon (19)1850..1932
Gene:PHKB
Gene Synonym:PHKB
Exon (20)1933..2023
Gene:PHKB
Gene Synonym:PHKB
Exon (21)2024..2085
Gene:PHKB
Gene Synonym:PHKB
Exon (22)2086..2248
Gene:PHKB
Gene Synonym:PHKB
Exon (23)2249..2330
Gene:PHKB
Gene Synonym:PHKB
Exon (24)2331..2388
Gene:PHKB
Gene Synonym:PHKB
Exon (25)2389..2479
Gene:PHKB
Gene Synonym:PHKB
Exon (26)2480..2682
Gene:PHKB
Gene Synonym:PHKB
Exon (27)2683..2817
Gene:PHKB
Gene Synonym:PHKB
Exon (28)2818..2947
Gene:PHKB
Gene Synonym:PHKB
Exon (29)2948..3055
Gene:PHKB
Gene Synonym:PHKB
Exon (30)3056..3196
Gene:PHKB
Gene Synonym:PHKB
Exon (31)3197..5491
Gene:PHKB
Gene Synonym:PHKB
Translation MAGAAGLTAEVSWKVLERRARTKRSGSVYEPLKSINLPRPDNETLWDKLDHYYRIVKSTL LLYQSPTTGLFPTKTCGGDQKAKIQDSLYCAAGAWALALAYRRIDDDKGRTHELEHSAIK CMRGILYCYMRQADKVQQFKQDPRPTTCLHSVFNVHTGDELLSYEEYGHLQINAVSLYLL YLVEMISSGLQIIYNTDEVSFIQNLVFCVERVYRVPDFGVWERGSKYNNGSTELHSSSVG LAKAALEAINGFNLFGNQGCSWSVIFVDLDAHNRNRQTLCSLLPRESRSHNTDAALLPCI SYPAFALDDEVLFSQTLDKVVRKLKGKYGFKRFLRDGYRTSLEDPNRCYYKPAEIKLFDG IECEFPIFFLYMMIDGVFRGNPKQVQEYQDLLTPVLHHTTEGYPVVPKYYYVPADFVEYE KNNPGSQKRFPSNCGRDGKLFLWGQALYIIAKLLADELISPKDIDPVQRYVPLKDQRNVS MRFSNQGPLENDLVVHVALIAESQRLQVFLNTYGIQTQTPQQVEPIQIWPQQELVKAYLQ LGINEKLGLSGRPDRPIGCLGTSKIYRILGKTVVCYPIIFDLSDFYMSQDVFLLIDDIKN ALQFIKQYWKMHGRPLFLVLIREDNIRGSRFNPILDMLAALKKGIIGGVKVHVDRLQTLI SGAVVEQLDFLRISDTEELPEFKSFEELEPPKHSKVKRQSSTPSAPELGQQPDVNISEWK DKPTHEILQKLNDCSCLASQAILLGILLKREGPNFITKEGTVSDHIERVYRRAGSQKLWL AVRYGAAFTQKFSSSIAPHITTFLVHGKQVTLGAFGHEEEVISNPLSPRVIQNIIYYKCN THDEREAVIQQELVIHIGWIISNNPELFSGMLKIRIGWIIHAMEYELQIRGGDKPALDLY QLSPSEVKQLLLDILQPQQNGRCWLNRRQIDGSLNRTPTGFYDRVWQILERTPNGIIVAG KHLPQQPTLSDMTMYEMNFSLLVEDTLGNIDQPQYRQIVVELLMVVSIVLERNPELEFQD KVDLDRLVKEAFNEFQKDQSRLKEIEKQDDMTSFYNTPPLGKRGTCSYLTKAVMNLLLEG EVKPNNDDPCLIS
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Position Chain Variation Link
60+c, gdbSNP:145047641
77+a, gdbSNP:138071587
78+c, tdbSNP:201500282
91+a, gdbSNP:141733590
120+a, gdbSNP:150550263
163+dbSNP:
163+c, tdbSNP:202244329
269+dbSNP:
269+a, gdbSNP:149314717
280+c, tdbSNP:200312877
310+c, tdbSNP:147357783
322+c, tdbSNP:139431568
323+a, gdbSNP:200339326
359+dbSNP:
359+c, tdbSNP:145166656
370+c, tdbSNP:17738933
373+c, tdbSNP:148782229
404+c, gdbSNP:121918022
407+a, gdbSNP:142404586
431+a, tdbSNP:151291928
443+c, tdbSNP:202167409
451+c, tdbSNP:140626718
452+a, gdbSNP:144486825
488+dbSNP:
488+a, gdbSNP:146558295
522+c, tdbSNP:141208535
543+a, gdbSNP:144211929
552+a, gdbSNP:151155518
570+dbSNP:
570+a, gdbSNP:139738333
607+g, tdbSNP:56257827
618+a, gdbSNP:201773315
626+a, gdbSNP:117218785
696+dbSNP:
696+a, tdbSNP:148238775
759+c, tdbSNP:201829990
766+dbSNP:
766+g, tdbSNP:141376518
770+a, gdbSNP:147426858
779+a, cdbSNP:190737988
833+dbSNP:
833+g, tdbSNP:137946010
862+c, tdbSNP:143411852
870+a, gdbSNP:147127433
881+a, cdbSNP:45514591
901+a, tdbSNP:139519773
944+dbSNP:
944+c, tdbSNP:143805637
984+c, tdbSNP:149685822
998+a, tdbSNP:144802484
1047+a, gdbSNP:201074312
1173+dbSNP:
1173+c, tdbSNP:78667243
1199+dbSNP:
1199+a, gdbSNP:148556721
1205+a, gdbSNP:144553589
1309+dbSNP:
1309+a, tdbSNP:121918021
1337+c, tdbSNP:146634901
1338+a, gdbSNP:141379798
1359+a, gdbSNP:143602657
1366+a, gdbSNP:151239389
1371+c, tdbSNP:140509147
1402+c, tdbSNP:199941695
1412+c, tdbSNP:201107993
1430+dbSNP:
1430+a, tdbSNP:201217052
1439+c, gdbSNP:150683838
1457+c, gdbSNP:182398740
1476+a, gdbSNP:139904234
1498+a, gdbSNP:149812232
1531+dbSNP:
1531+a, gdbSNP:141323773
1551+c, tdbSNP:147021608
1563+a, gdbSNP:111301209
1572+dbSNP:
1572+a, gdbSNP:138204583
1588+a, gdbSNP:143688069
1590+a, gdbSNP:143884635
1591+c, tdbSNP:148188488
1596+c, tdbSNP:141224055
1608+a, cdbSNP:144159196
1626+a, cdbSNP:79509460
1654+c, tdbSNP:200463341
1683+dbSNP:
1683+a, gdbSNP:139383341
1761+dbSNP:
1761+a, gdbSNP:34456828
1783+a, gdbSNP:201607512
1793+a, gdbSNP:202127217
1798+a, gdbSNP:111970242
1811+a, cdbSNP:140636792
1854+dbSNP:
1854+a, cdbSNP:192099645
1855+a, gdbSNP:35690654
1875+a, gdbSNP:183496853
1893+a, gdbSNP:140190371
1913+a, cdbSNP:143871324
1952+dbSNP:
1952+a, gdbSNP:145723243
1976+, adbSNP:35494330
2021+a, c, tdbSNP:34667348
2098+dbSNP:
2098+c, tdbSNP:142891808
2100+a, gdbSNP:151061605
2127+a, gdbSNP:142381554
2166+c, tdbSNP:146985588
2188+a, gdbSNP:200274360
2227..2228+, cdbSNP:35898947
2227+c, tdbSNP:17853186
2234+c, gdbSNP:56179184
2247+a, gdbSNP:201360702
2258+dbSNP:
2258+c, tdbSNP:200500255
2296+c, gdbSNP:34717357
2333+dbSNP:
2333+a, gdbSNP:142305013
2336+a, gdbSNP:56010117
2361+a, gdbSNP:16945474
2378+c, tdbSNP:149244943
2399+dbSNP:
2399+c, tdbSNP:143421326
2400+a, gdbSNP:199709286
2485+dbSNP:
2485+g, tdbSNP:187940556
2497+c, tdbSNP:61494991
2511+a, tdbSNP:9934849
2541+g, tdbSNP:146129791
2584+a, gdbSNP:140117779
2596+c, tdbSNP:200981011
2613+c, tdbSNP:200492495
2645+c, gdbSNP:142281844
2680+c, tdbSNP:17812908
2681+a, gdbSNP:150902092
2721+dbSNP:
2721+a, gdbSNP:139277922
2725+c, tdbSNP:201038140
2726+a, gdbSNP:149983469
2842+dbSNP:
2842+c, gdbSNP:201377441
2845+c, tdbSNP:145151331
2886+c, tdbSNP:140830761
2904+g, tdbSNP:144689991
2908+a, gdbSNP:191428598
2910+c, tdbSNP:200836150
2913+a, gdbSNP:147624679
2945+c, gdbSNP:199657117
2975+dbSNP:
2975+c, tdbSNP:111734407
2978+g, tdbSNP:199948078
3037+c, tdbSNP:142163694
3053+c, gdbSNP:143211850
3090..3091+dbSNP:
3090..3091+, ccdbSNP:36126252
3091+c, tdbSNP:151222947
3094+c, tdbSNP:149234185
3122+c, tdbSNP:140360266
3137+a, gdbSNP:199558394
3170+a, gdbSNP:202110938
3173+c, tdbSNP:12918964
3176+c, gdbSNP:1383726
3186+c, tdbSNP:200896827
3268+dbSNP:
3268+a, gdbSNP:137869198
3286+a, gdbSNP:142484035
3306+a, cdbSNP:12447441
3309+a, gdbSNP:144657506
3319+a, gdbSNP:146134171
3345+a, gdbSNP:200046721
3560+a, gdbSNP:9935072
3613+c, tdbSNP:140112731
3626+a, gdbSNP:191276795
3924+a, gdbSNP:143720939
3943..3944+, atdbSNP:201839105
3975+a, cdbSNP:117861728
4074+c, tdbSNP:184521822
4249+a, gdbSNP:151262633
4317+, adbSNP:11299370
4405+g, tdbSNP:188886088
4697+c, tdbSNP:78926906
4810+a, gdbSNP:193098447
5087+a, gdbSNP:7202866
5335+c, tdbSNP:185157932
5409+a, gdbSNP:189124531
5420+a, gdbSNP:9940720
Gene SymbolPHKB
Gene SynonymPHKB
Chromosome16
Locus Map16q12-q13
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000293 Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. On-demand $1699.00 25
NM_001031835 Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 2, mRNA. On-demand $1699.00 25
Title Glycogen storage disease type IX: High variability in clinical phenotype .
Author Beauchamp,N.J., Dalton,A., Ramaswami,U., Niinikoski,H., Mention,K., Kenny,P., Kolho,K.L., Raiman,J., Walter,J., Treacy,E., Tanner,S. and Sharrard,M.
Journal Mol. Genet. Metab. 92 (1-2), 88-99 (2007)
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 Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease .
Author Burwinkel,B. and Kilimann,M.W.
Journal J. Mol. Biol. 277 (3), 513-517 (1998)
Title Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB) .
Author Burwinkel,B., Moses,S.W. and Kilimann,M.W.
Journal Hum. Genet. 101 (2), 170-174 (1997)
Title Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB) .
Author van den Berg,I.E., van Beurden,E.A., de Klerk,J.B., van Diggelen,O.P., Malingre,H.E., Boer,M.M. and Berger,R.
Journal Am. J. Hum. Genet. 61 (3), 539-546 (1997)
Title Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB) .
Author Burwinkel,B., Maichele,A.J., Aagenaes,O., Bakker,H.D., Lerner,A., Shin,Y.S., Strachan,J.A. and Kilimann,M.W.
Journal Hum. Mol. Genet. 6 (7), 1109-1115 (1997)
Title Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB) .
Author Wullrich-Schmoll,A. and Kilimann,M.W.
Journal Eur. J. Biochem. 238 (2), 374-380 (1996)
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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