Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.
| RefSeq Version | NM_000293.2, 169808423 |
| Length | 5491 bp |
| Structure | linear |
| Update Date | 17-APR-2011 |
| 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. 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 | Exon (1) | 1..128 | Exon (2) | 1..128 | Exon (3) | 129..218 | Exon (4) | 219..357 | Exon (5) | 358..457 | Exon (6) | 458..565 | Exon (7) | 566..646 | Exon (8) | 647..762 | Exon (9) | 763..826 | Exon (10) | 827..922 | Exon (11) | 923..1120 | Exon (12) | 1121..1178 | Exon (13) | 1179..1256 | Exon (14) | 1257..1415 | Exon (15) | 1416..1510 | Exon (16) | 1511..1566 | Exon (17) | 1567..1660 | Exon (18) | 1661..1744 | Exon (19) | 1745..1849 | Exon (20) | 1850..1932 | Exon (21) | 1933..2023 | Exon (22) | 2024..2085 | Exon (23) | 2086..2248 | Exon (24) | 2249..2330 | Exon (25) | 2331..2388 | Exon (26) | 2389..2479 | Exon (27) | 2480..2682 | Exon (28) | 2683..2817 | Exon (29) | 2818..2947 | Exon (30) | 2948..3055 | Exon (31) | 3056..3196 | Exon (32) | 3197..5491 |
| 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 |
| 370 | + | c, t | dbSNP:17738933 |
| 404 | + | c, g | dbSNP:121918022 |
| 607 | + | g, t | dbSNP:56257827 |
| 626 | + | a, g | dbSNP:117218785 |
| 881 | + | a, c | dbSNP:45514591 |
| 1173 | + | c, t | dbSNP:78667243 |
| 1309 | + | a, t | dbSNP:121918021 |
| 1563 | + | a, g | dbSNP:111301209 |
| 1626 | + | a, c | dbSNP:79509460 |
| 1761 | + | a, g | dbSNP:34456828 |
| 1798 | + | a, g | dbSNP:111970242 |
| 1855 | + | a, g | dbSNP:35690654 |
| 1976 | + | , a | dbSNP:35494330 |
| 2021 | + | a, c, t | dbSNP:34667348 |
| 2227 | + | c, t | dbSNP:17853186 |
| 2228..2229 | + | , c | dbSNP:35898947 |
| 2234 | + | c, g | dbSNP:56179184 |
| 2296 | + | c, g | dbSNP:34717357 |
| 2336 | + | a, g | dbSNP:56010117 |
| 2361 | + | a, g | dbSNP:16945474 |
| 2497 | + | c, t | dbSNP:61494991 |
| 2511 | + | a, t | dbSNP:9934849 |
| 2680 | + | c, t | dbSNP:17812908 |
| 2975 | + | c, t | dbSNP:111734407 |
| 3090..3091 | + | , cc | dbSNP:36126252 |
| 3173 | + | c, t | dbSNP:12918964 |
| complement(3176) | - | g, c | dbSNP:1383726 |
| 3306 | + | a, c | dbSNP:12447441 |
| 3560 | + | a, g | dbSNP:9935072 |
| 3975 | + | a, c | dbSNP:117861728 |
| 4323 | + | , a | dbSNP:11299370 |
| 4328 | + | , a | dbSNP:67363356 |
| 4334 | + | , a | dbSNP:57494889 |
| 4335 | + | a, g | dbSNP:117324264 |
| 4341 | + | a, g | dbSNP:78392467 |
| 4346 | + | a, c | dbSNP:78556468 |
| 4697 | + | c, t | dbSNP:78926906 |
| 5087 | + | a, g | dbSNP:7202866 |
| 5420 | + | a, g | dbSNP:9940720 |
| Gene Symbol | PHKB |
| Gene Synonym | DKFZp781E15103; FLJ41698 |
| Chromosome | 16 |
| Locus Map | 16q12-q13 |
| All Transcripts | NM_000293 , NM_001031835 |
| Title | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . |
| Author | Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R. |
| Journal | Mol. Med. 16 (7-8), 247-253 (2010) |
| 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 | 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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