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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18700 Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $1699.00 25
OHu18700C Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. Customized vector On-demand $1699.00 25

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000293.2, 169808423
Length 3282 bp
Structure linear
Update Date 03-MAY-2014
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.

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..>1462
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
13+dbSNP:
13+a, cdbSNP:374935499
45+c, gdbSNP:377396658
60+c, gdbSNP:145047641
77+a, gdbSNP:138071587
78+c, tdbSNP:201500282
79+a, gdbSNP:374068481
91+a, gdbSNP:141733590
163+dbSNP:
163+c, tdbSNP:202244329
269+dbSNP:
269+a, gdbSNP:149314717
280+c, tdbSNP:200312877
304+a, cdbSNP:370625006
310+c, tdbSNP:147357783
322+c, tdbSNP:139431568
323+a, gdbSNP:200339326
334+c, tdbSNP:372209609
359+dbSNP:
359+c, tdbSNP:145166656
360+a, gdbSNP:368975705
370+c, tdbSNP:17738933
373+c, tdbSNP:148782229
388+g, tdbSNP:377750531
404+c, gdbSNP:121918022
407+a, gdbSNP:142404586
431+a, tdbSNP:151291928
443+c, tdbSNP:202167409
444+a, gdbSNP:377351270
451+c, tdbSNP:140626718
452+a, gdbSNP:144486825
488+dbSNP:
488+a, gdbSNP:146558295
497+c, tdbSNP:370363309
499+c, tdbSNP:374963473
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
656+dbSNP:
656+a, gdbSNP:367667135
696+a, tdbSNP:148238775
698+c, tdbSNP:371523617
759+c, tdbSNP:201829990
770+dbSNP:
770+a, gdbSNP:147426858
779+a, cdbSNP:190737988
806+c, tdbSNP:373920188
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
1013+a, gdbSNP:372411605
1047+a, gdbSNP:201074312
1083+a, tdbSNP:375710008
1142+dbSNP:
1142+g, tdbSNP:371296953
1173+c, tdbSNP:78667243
1199+dbSNP:
1199+a, gdbSNP:148556721
1230+c, tdbSNP:377612083
1249+c, tdbSNP:369600478
1250+a, gdbSNP:372083810
1276+dbSNP:
1276+g, tdbSNP:376369267
1309+a, tdbSNP:121918021
1331+a, cdbSNP:376806625
1338+a, gdbSNP:141379798
1359+a, gdbSNP:143602657
1366+a, gdbSNP:151239389
1371+c, tdbSNP:140509147
1386+a, tdbSNP:373548084
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
1480+a, gdbSNP:373369316
1498+a, gdbSNP:149812232
1531+dbSNP:
1531+a, gdbSNP:141323773
1545+c, tdbSNP:367653680
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
1742+a, gdbSNP:375108693
complement(1761)-dbSNP:
complement(1761)-g, adbSNP: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
1860+a, tdbSNP:371708094
1875+a, gdbSNP:183496853
1892+a, cdbSNP:369109156
1893+a, gdbSNP:140190371
1912+c, tdbSNP:377747820
1913+a, cdbSNP:143871324
1917+a, gdbSNP:369997789
1952+dbSNP:
1952+a, gdbSNP:145723243
1976+, adbSNP:35494330
2021+a, c, tdbSNP:34667348
2054+dbSNP:
2054+c, tdbSNP:376951504
2077+c, tdbSNP:370232857
2098+dbSNP:
2098+c, tdbSNP:142891808
2100+a, gdbSNP:151061605
2116+a, gdbSNP:373862201
2127+a, gdbSNP:142381554
2144+c, tdbSNP:374998590
2166+c, tdbSNP:146985588
2188+a, gdbSNP:200274360
2214+a, gdbSNP:368503018
2227+c, g, tdbSNP:17853186
2228..2229+, cdbSNP:35898947
2228+a, gdbSNP:375361185
2234+c, gdbSNP:56179184
2247+a, gdbSNP:201360702
2255+dbSNP:
2255+a, gdbSNP:369776235
2258+c, tdbSNP:200500255
2296+c, gdbSNP:34717357
2336+dbSNP:
2336+a, gdbSNP:56010117
2361+a, gdbSNP:16945474
2372+c, gdbSNP:376460568
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
2584+a, gdbSNP:140117779
2592+c, tdbSNP:374731360
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
2741+c, tdbSNP:369059693
2842+dbSNP:
2842+c, gdbSNP:201377441
2843+a, gdbSNP:373243537
2845+c, tdbSNP:145151331
2886+c, tdbSNP:140830761
2904+g, tdbSNP:144689991
2908+a, gdbSNP:191428598
2910+c, tdbSNP:200836150
2913+a, gdbSNP:147624679
2934+a, tdbSNP:371541668
2945+c, gdbSNP:199657117
2975+dbSNP:
2975+c, tdbSNP:111734407
2978+g, tdbSNP:199948078
3011+a, tdbSNP:370623353
3037+c, tdbSNP:142163694
3047+a, gdbSNP:375389167
3053+c, gdbSNP:143211850
3090..3091+dbSNP:
3090..3091+, ccdbSNP:36126252
3091+c, tdbSNP:151222947
3094+c, tdbSNP:149234185
3097+g, tdbSNP:374397380
3122+c, tdbSNP:140360266
3126+a, gdbSNP:372805949
3132+c, tdbSNP:375157149
3137+a, gdbSNP:199558394
3170+a, gdbSNP:202110938
3173+c, tdbSNP:12918964
3174+a, gdbSNP:372327608
complement(3176)-g, cdbSNP:1383726
3182+a, gdbSNP:375008974
3186+c, tdbSNP:200896827
3255+dbSNP:
3255+a, gdbSNP:374634942
3268+a, gdbSNP:137869198
3286+a, gdbSNP:142484035
3306+a, cdbSNP:12447441
3309+a, gdbSNP:144657506
3319+a, gdbSNP:146134171
3345+a, gdbSNP:200046721
3383+c, tdbSNP:377636370
3466+a, gdbSNP:375856403
3482+a, tdbSNP:368887864
3502+a, gdbSNP:372849700
3560+a, gdbSNP:9935072
3613+c, tdbSNP:140112731
3626+a, gdbSNP:191276795
3924+a, gdbSNP:143720939
3930+a, gdbSNP:374961750
3943..3944+, atdbSNP:201839105
3975+a, cdbSNP:117861728
4074+c, tdbSNP:184521822
4249+a, gdbSNP:151262633
4286+c, tdbSNP:369785186
4334+, adbSNP:11299370
4335+, gdbSNP:376821940
4405+g, tdbSNP:188886088
4697+c, tdbSNP:78926906
4810+a, gdbSNP:193098447
4904+a, tdbSNP:373232364
5018+c, tdbSNP:376202584
5034+a, gdbSNP:369613461
5087+a, gdbSNP:7202866
5335+c, tdbSNP:185157932
5409+a, gdbSNP:189124531
5420+a, gdbSNP:9940720
5420+a, gdbSNP:386441496
Gene SymbolPHKB
Gene SynonymPHKB
Chromosome16
Locus Map16q12-q13
Title Glycogen storage disease type IX: High variability in clinical phenotype .
Author Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, 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 MJ.
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 PR, Moses SW, Shin YS, Pongratz D, Vorgerd M and Kilimann MW.
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 RJ and Walsh DA.
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 MW.
Journal J. Mol. Biol. 277 (3), 513-517 (1998)
Title Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB) .
Author van den Berg IE, van Beurden EA, de Klerk JB, van Diggelen OP, Malingre HE, Boer MM 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 AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA and Kilimann MW.
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 MW.
Journal Eur. J. Biochem. 238 (2), 374-380 (1996)
Title Phosphorylase Kinase Deficiency .
Author Goldstein,J., Austin,S., Kishnani,P. and Bali,D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13 .
Author Francke U, Darras BT, Zander NF and Kilimann MW.
Journal Am. J. Hum. Genet. 45 (2), 276-282 (1989)

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