Hmdb loader
Identification
HMDB Protein ID HMDBP01397
Secondary Accession Numbers
  • 6693
Name Phosphorylase b kinase gamma catalytic chain, testis/liver isoform
Synonyms
  1. PHK-gamma-T
  2. PSK-C3
  3. Phosphorylase kinase subunit gamma-2
Gene Name PHKG2
Protein Type Enzyme
Biological Properties
General Function Involved in phosphorylase kinase activity
Specific Function Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. This isozyme may regulate glycogeneolysis in the testis
Pathways Not Available
Reactions Not Available
GO Classification
Component
phosphorylase kinase complex
macromolecular complex
protein complex
Function
binding
catalytic activity
transferase activity
transferase activity, transferring phosphorus-containing groups
kinase activity
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
adenyl ribonucleotide binding
atp binding
phosphorylase kinase activity
calmodulin binding
protein binding
protein kinase activity
protein serine/threonine kinase activity
calmodulin-dependent protein kinase activity
Process
phosphorus metabolic process
phosphate metabolic process
metabolic process
cellular metabolic process
glycogen metabolic process
glycogen biosynthetic process
small molecule metabolic process
alcohol metabolic process
monosaccharide metabolic process
hexose metabolic process
glucose metabolic process
protein amino acid phosphorylation
phosphorylation
Cellular Location Not Available
Gene Properties
Chromosome Location Chromosome:1
Locus 16p11.2
SNPs PHKG2
Gene Sequence
>1221 bp
ATGACGCTGGACGTGGGGCCGGAGGATGAGCTGCCCGACTGGGCCGCCGCCAAAGAGTTT
TACCAGAAGTACGACCCTAAGGACGTCATCGGCAGAGGAGTGAGCTCTGTGGTCCGCCGT
TGTGTTCATCGAGCTACTGGCCACGAGTTTGCGGTGAAGATTATGGAAGTGACAGCTGAG
CGGCTGAGTCCTGAGCAGCTGGAGGAGGTGCGGGAAGCCACACGGCGAGAGACACACATC
CTTCGCCAGGTCGCCGGCCACCCCCACATCATCACCCTCATCGATTCCTACGAGTCTTCT
AGCTTCATGTTCCTGGTGTTTGACCTGATGCGGAAGGGAGAGCTGTTTGACTATCTCACA
GAGAAGGTGGCCCTCTCTGAAAAGGAAACCAGGTCCATCATGCGGTCTCTGCTGGAAGCA
GTGAGCTTTCTCCATGCCAACAACATTGTGCATCGAGATCTGAAGCCCGAGAATATTCTC
CTAGATGACAATATGCAGATCCGACTTTCAGATTTCGGGTTCTCCTGCCACTTGGAACCT
GGCGAGAAGCTTCGAGAGTTGTGTGGGACCCCAGGGTATCTAGCGCCAGAGATCCTTAAA
TGCTCCATGGATGAAACCCACCCAGGCTATGGCAAGGAGGTCGACCTCTGGGCCTGTGGG
GTGATCTTGTTCACACTCCTGGCTGGCTCGCCACCCTTCTGGCACCGGCGGCAGATCCTG
ATGTTACGCATGATCATGGAGGGCCAGTACCAGTTCAGTTCCCCCGAGTGGGATGACCGT
TCCAGCACTGTCAAAGACCTGATCTCCAGGCTGCTGCAGGTGGATCCTGAGGCACGCCTG
ACAGCTGAGCAGGCCCTACAGCACCCCTTCTTTGAGCGTTGTGAAGGCAGCCAACCCTGG
AACCTCACCCCCCGCCAGCGGTTCCGGGTGGCAGTGTGGACAGTGCTGGCTGCTGGACGA
GTGGCCCTAAGCACCCATCGTGTACGGCCACTGACCAAGAATGCACTGTTGAGGGACCCT
TATGCGCTGCGGTCAGTGCGGCACCTCATCGACAACTGTGCCTTCCGGCTCTACGGGCAC
TGGGTAAAGAAAGGGGAGCAGCAGAACCGGGCGGCTCTCTTTCAGCACCGGCCCCCTGGG
CCTTTTCCCATCATGGGCCCTGAAGAGGAGGGAGACTCTGCTGCTATAACTGAGGATGAG
GCCGTGCTTGTGCTGGGCTAG
Protein Properties
Number of Residues 406
Molecular Weight 46441.8
Theoretical pI 6.35
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Phosphorylase b kinase gamma catalytic chain, testis/liver isoform
MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAE
RLSPEQLEEVREATRRETHILRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLT
EKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENILLDDNMQIRLSDFGFSCHLEP
GEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQIL
MLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPW
NLTPRQRFRVAVWTVLAAGRVALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGH
WVKKGEQQNRAALFQHRPPGPFPIMGPEEEGDSAAITEDEAVLVLG
GenBank ID Protein 12803435
UniProtKB/Swiss-Prot ID P15735
UniProtKB/Swiss-Prot Entry Name PHKG2_HUMAN
PDB IDs Not Available
GenBank Gene ID BC002541
GeneCard ID PHKG2
GenAtlas ID PHKG2
HGNC ID HGNC:8931
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A, Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F, Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR, Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA, Stratton MR: Patterns of somatic mutation in human cancer genomes. Nature. 2007 Mar 8;446(7132):153-8. [PubMed:17344846 ]
  3. Hanks SK: Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis. Mol Endocrinol. 1989 Jan;3(1):110-6. [PubMed:2915644 ]
  4. Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW: Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum Mol Genet. 1998 Jan;7(1):149-54. [PubMed:9384616 ]
  5. Hanks SK: Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family. Proc Natl Acad Sci U S A. 1987 Jan;84(2):388-92. [PubMed:2948189 ]
  6. Maichele AJ, Burwinkel B, Maire I, Sovik O, Kilimann MW: Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nat Genet. 1996 Nov;14(3):337-40. [PubMed:8896567 ]
  7. Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW: Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. Pediatr Res. 2003 Dec;54(6):834-9. Epub 2003 Aug 20. [PubMed:12930917 ]