Sequence in raw or FASTA format:
Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.
| RefSeq Version | NM_000292.2, 169790834 |
| Length | 5325 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. |
| Product | phosphorylase b kinase regulatory subunit alpha, liver isoform |
| 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 hepatic 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined. |
| RefSeq | NP_000283.1 |
| CDS | 431..4138 | Exon (1) | 1..508 | Exon (2) | 1..508 | Exon (3) | 509..667 | Exon (4) | 668..715 | Exon (5) | 716..884 | Exon (6) | 885..967 | Exon (7) | 968..1048 | Exon (8) | 1049..1147 | Exon (9) | 1148..1294 | Exon (10) | 1295..1348 | Exon (11) | 1349..1471 | Exon (12) | 1472..1567 | Exon (13) | 1568..1675 | Exon (14) | 1676..1754 | Exon (15) | 1755..1889 | Exon (16) | 1890..1999 | Exon (17) | 2000..2144 | Exon (18) | 2145..2223 | Exon (19) | 2224..2393 | Exon (20) | 2394..2567 | Exon (21) | 2568..2656 | Exon (22) | 2657..2790 | Exon (23) | 2791..2947 | Exon (24) | 2948..3027 | Exon (25) | 3028..3106 | Exon (26) | 3107..3236 | Exon (27) | 3237..3338 | Exon (28) | 3339..3457 | Exon (29) | 3458..3487 | Exon (30) | 3488..3541 | Exon (31) | 3542..3712 | Exon (32) | 3713..3766 | Exon (33) | 3767..3967 | Exon (34) | 3968..5325 |
| Translation | MRSRSNSGVRLDGYARLVQQTILCYQNPVTGLLSASHEQKDAWVRDNIYSILAVWGLGMA
YRKNADRDEDKAKAYELEQNVVKLMRGLLQCMMRQVAKVEKFKHTQSTKDSLHAKYNTAT
CGTVVGDDQWGHLQVDATSLFLLFLAQMTASGLRIIFTLDEVAFIQNLVFYIEAAYKVAD
YGMWERGDKTNQGIPELNASSVGMAKAALEAIDELDLFGAHGGRKSVIHVLPDEVEHCQS
ILFSMLPRASTSKEIDAGLLSIISFPAFAVEDVNLVNVTKNEIISKLQGRYGCCRFLRDG
YKTPREDPNRLHYDPAELKLFENIECEWPVFWTYFIIDGVFSGDAVQVQEYREALEGILI
RGKNGIRLVPELYAVPPNKVDEEYKNPHTVDRVPMGKVPHLWGQSLYILSSLLAEGFLAA
GEIDPLNRRFSTSVKPDVVVQVTVLAENNHIKDLLRKHGVNVQSIADIHPIQVQPGRILS
HIYAKLGRNKNMNLSGRPYRHIGVLGTSKLYVIRNQIFTFTPQFTDQHHFYLALDNEMIV
EMLRIELAYLCTCWRMTGRPTLTFPISRTMLTNDGSDIHSAVLSTIRKLEDGYFGGARVK
LGNLSEFLTTSFYTYLTFLDPDCDEKLFDNASEGTFSPDSDSDLVGYLEDTCNQESQDEL
DHYINHLLQSTSLRSYLPPLCKNTEDRHVFSAIHSTRDILSVMAKAKGLEVPFVPMTLPT
KVLSAHRKSLNLVDSPQPLLEKVPESDFQWPRDDHGDVDCEKLVEQLKDCSNLQDQADIL
YILYVIKGPSWDTNLSGQHGVTVQNLLGELYGKAGLNQEWGLIRYISGLLRKKVEVLAEA
CTDLLSHQKQLTVGLPPEPREKIISAPLPPEELTKLIYEASGQDISIAVLTQEIVVYLAM
YVRAQPSLFVEMLRLRIGLIIQVMATELARSLNCSGEEASESLMNLSPFDMKNLLHHILS
GKEFGVERSVRPIHSSTSSPTISIHEVGHTGVTKTERSGINRLRSEMKQMTRRFSADEQF
FSVGQAASSSAHSSKSARSSTPSSPTGTSSSDSGGHHIGWGERQGQWLRRRRLDGAINRV
PVGFYQRVWKILQKCHGLSIDGYVLPSSTTREMTPHEIKFAVHVESVLNRVPQPEYRQLL
VEAIMVLTLLSDTEMTSIGGIIHVDQIVQMASQLFLQDQVSIGAMDTLEKDQATGICHFF
YDSAPSGAYGTMTYLTRAVASYLQELLPNSGCQMQ
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| Position | Chain | Variation | Link |
| complement(542) | - | g, c | dbSNP:17313469 |
| complement(562) | - | t, c | dbSNP:61733285 |
| complement(712) | - | t, c | dbSNP:113429755 |
| complement(1279) | - | t, a | dbSNP:61733284 |
| complement(1393) | - | g, a | dbSNP:35010660 |
| complement(1676) | - | t, c | dbSNP:16980929 |
| complement(2009) | - | g, c | dbSNP:17856445 |
| 2020 | + | c, t | dbSNP:2662851 |
| complement(2597) | - | g, a | dbSNP:2662852 |
| 2607 | + | a, c | dbSNP:2640033 |
| complement(2696) | - | t, c | dbSNP:17851089 |
| complement(2866) | - | t, c | dbSNP:61733281 |
| complement(2946) | - | t, c | dbSNP:113232696 |
| complement(2962) | - | t, c | dbSNP:61729452 |
| complement(3503) | - | g, c | dbSNP:61733286 |
| complement(3717) | - | t, c | dbSNP:61731574 |
| complement(4135) | - | t, c | dbSNP:112249974 |
| complement(4879) | - | t, c | dbSNP:77481942 |
| complement(4880) | - | t, c | dbSNP:74651426 |
| complement(4942) | - | t, c | dbSNP:6653642 |
| complement(4946) | - | g, c | dbSNP:56141038 |
| complement(5240) | - | t, c | dbSNP:11094760 |
| complement(5281..5282) | - | , c | dbSNP:34953688 |
| Gene Symbol | PHKA2 |
| Gene Synonym | GSD9A; MGC133071; PHK; PYK; PYKL; XLG; XLG2 |
| Chromosome | X |
| Locus Map | Xp22.2-p22.1 |
| All Transcripts | NM_000292 |
| Title | 3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase . |
| Author | Carriere,C., Jonic,S., Mornon,J.P. and Callebaut,I. |
| Journal | Biochim. Biophys. Acta 1782 (11), 664-670 (2008) |
| 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 | Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency) . |
| Author | Fukao,T., Zhang,G., Aoki,Y., Arai,T., Teramoto,T., Kaneko,H., Sugie,H. and Kondo,N. |
| Journal | Mol. Genet. Metab. 92 (1-2), 179-182 (2007) |
| Title | Phosphoproteome analysis of the human mitotic spindle . |
| Author | Nousiainen,M., Sillje,H.H., Sauer,G., Nigg,E.A. and Korner,R. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 103 (14), 5391-5396 (2006) |
| Title | The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts . |
| Author | Ozyildirim,A.M., Wistow,G.J., Gao,J., Wang,J., Dickinson,D.P., Frierson,H.F. Jr. and Laurie,G.W. |
| Journal | Invest. Ophthalmol. Vis. Sci. 46 (5), 1572-1580 (2005) |
| Title | cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis . |
| Author | Davidson,J.J., Ozcelik,T., Hamacher,C., Willems,P.J., Francke,U. and Kilimann,M.W. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 89 (6), 2096-2100 (1992) |
| Title | Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp . |
| Author | Wauters,J.G., Bossuyt,P.J., Davidson,J., Hendrickx,J., Kilimann,M.W. and Willems,P.J. |
| Journal | Cytogenet. Cell Genet. 60 (3-4), 194-196 (1992) |
| Title | Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency . |
| Author | Willems,P. |
| Journal | Clin. Genet. 38 (1), 80 (1990) |
| Title | The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients . |
| Author | Willems,P.J., Gerver,W.J., Berger,R. and Fernandes,J. |
| Journal | Eur. J. Pediatr. 149 (4), 268-271 (1990) |
| Title | X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency . |
| Author | Huijing,F. and Fernandes,J. |
| Journal | Am. J. Hum. Genet. 21 (3), 275-284 (1969) |
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