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Showing Protein Phosphoglycerate mutase 2 (HMDBP00267)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 7 metabolites
Identification
HMDB Protein ID HMDBP00267
Secondary Accession Numbers
  • 5499
Name Phosphoglycerate mutase 2
Synonyms
  1. BPG-dependent PGAM 2
  2. Muscle-specific phosphoglycerate mutase
  3. PGAM-M
  4. Phosphoglycerate mutase isozyme M
Gene Name PGAM2
Protein Type Enzyme
Biological Properties
General Function Involved in catalytic activity
Specific Function Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase) and EC 3.1.3.13 (phosphatase), but with a reduced activity.
Pathways
  • Fanconi-bickel syndrome
  • Fructose-1,6-diphosphatase deficiency
  • Gluconeogenesis
  • Glycine, serine and threonine metabolism
  • Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease
  • Glycogenosis, Type IA. Von gierke disease
  • Glycogenosis, Type IB
  • Glycogenosis, Type IC
  • Glycogenosis, Type VII. Tarui disease
  • Glycolysis
  • Glycolysis / Gluconeogenesis
  • Phosphoenolpyruvate carboxykinase deficiency 1 (PEPCK1)
  • Triosephosphate isomerase
  • Warburg Effect
Reactions
2-Phospho-D-glyceric acid → 3-Phosphoglyceric acid details
Glyceric acid 1,3-biphosphate → 2,3-Diphosphoglyceric acid details
2,3-Diphosphoglyceric acid + Water → 3-Phosphoglyceric acid + Phosphate details
GO Classification
Biological Process
small molecule metabolic process
spermatogenesis
striated muscle contraction
glycolysis
gluconeogenesis
response to mercury ion
Cellular Component
cytosol
nucleus
Function
catalytic activity
isomerase activity
intramolecular transferase activity
intramolecular transferase activity, phosphotransferases
Molecular Function
2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity
cofactor binding
bisphosphoglycerate 2-phosphatase activity
bisphosphoglycerate mutase activity
phosphoglycerate mutase activity
Process
metabolic process
small molecule metabolic process
alcohol metabolic process
monosaccharide metabolic process
hexose metabolic process
glucose metabolic process
glucose catabolic process
glycolysis
Cellular Location Not Available
Gene Properties
Chromosome Location 7
Locus 7p13-p12
SNPs PGAM2
Gene Sequence 
>762 bp
ATGGCCACTCACCGCCTCGTGATGGTCCGGCACGGCGAGACGACATGGAACCAGGAGAAC
CGTTTCTGTGGCTGGTTCGATGCAGAGCTGAGTGAAAAGGGGACCGAGGAGGCCAAGCGG
GGAGCCAAGGCCATCAAGGATGCCAAGATGGAGTTTGACATCTGCTACACGTCAGTGCTG
AAGCGGGCCATCCGAACCCTCTGGGCCATCCTGGACGGCACGGACCAGATGTGGCTGCCT
GTGGTGCGCACTTGGCGCTTCAATGAGCGGCATTACGGGGGCCTCACAGGCTTCAACAAG
GCAGAAACGGCCGCCAAGCACGGGGAGGAGCAGGTAAGATCTTGGAGGCGCTCCTTCGAC
ATCCCGCCGCCCCCGATGGACGAGAAGCACCCCTACTACAACTCCATTAGCAAGGAGCGT
CGGTACGCAGGCCTGAAGCCCGGGGAACTCCCCACCTGCGAGAGCCTCAAGGACACCATT
GCCCGGGCCCTGCCCTTCTGGAACGAGGAGATTGTTCCCCAGATCAAGGCCGGCAAGCGA
GTGCTCATTGCAGCCCACGGGAACAGCCTGCGGGGCATTGTCAAGCACCTGGAAGGGATG
TCAGACCAGGCGATCATGGAGCTGAACCTGCCCACGGGGATCCCCATTGTGTATGAGCTG
AACAAGGAGCTGAAGCCCACCAAGCCCATGCAGTTCCTGGGTGATGAGGAAACGGTGCGG
AAGGCCATGGAGGCTGTGGCTGCCCAGGGCAAGGCCAAGTGA
Protein Properties
Number of Residues 253
Molecular Weight 28765.96
Theoretical pI 8.887
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence 
>Phosphoglycerate mutase 2
MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVL
KRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFD
IPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTIARALPFWNEEIVPQIKAGKR
VLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVR
KAMEAVAAQGKAK
GenBank ID Protein 189868
UniProtKB/Swiss-Prot ID P15259
UniProtKB/Swiss-Prot Entry Name PGAM2_HUMAN
PDB IDs Not Available
GenBank Gene ID M18172
GeneCard ID PGAM2
GenAtlas ID PGAM2
HGNC ID HGNC:8889
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. Castella-Escola J, Ojcius DM, LeBoulch P, Joulin V, Blouquit Y, Garel MC, Valentin C, Rosa R, Climent-Romeo F, Cohen-Solal M: Isolation and characterization of the gene encoding the muscle-specific isozyme of human phosphoglycerate mutase. Gene. 1990 Jul 16;91(2):225-32. [PubMed:2145198 ]
  3. Tsujino S, Sakoda S, Mizuno R, Kobayashi T, Suzuki T, Kishimoto S, Shanske S, DiMauro S, Schon EA: Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase. J Biol Chem. 1989 Sep 15;264(26):15334-7. [PubMed:2549058 ]
  4. Shanske S, Sakoda S, Hermodson MA, DiMauro S, Schon EA: Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. J Biol Chem. 1987 Oct 25;262(30):14612-7. [PubMed:2822696 ]
  5. Denis NJ, Vasilescu J, Lambert JP, Smith JC, Figeys D: Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. Proteomics. 2007 Mar;7(6):868-74. [PubMed:17370265 ]
  6. Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S: The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet. 1993 Mar;52(3):472-7. [PubMed:8447317 ]
  7. Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden DJ, Kawashima A, Shanske S, DiMauro S: Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. Neuromuscul Disord. 1999 Oct;9(6-7):399-402. [PubMed:10545043 ]