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NiceProt View of Swiss-Prot: P00558

[General] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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General information about the entry
Entry name PGK1_HUMAN
Primary accession number P00558
Secondary accession numbers None
Entered in Swiss-Prot in Release 01, July 1986
Sequence was last modified in Release 01, July 1986
Annotations were last modified in    Release 41, February 2003
Name and origin of the protein
Protein name Phosphoglycerate kinase 1
Synonyms EC 2.7.2.3
Primer recognition protein 2
PRP 2
Gene name
PGK1 or PGKA
From
Homo sapiens (Human) [TaxID: 9606]
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
References
[1]
SEQUENCE FROM NUCLEIC ACID.
TISSUE=Liver;
MEDLINE=83169680; PubMed=6188151; [NCBI, ExPASy, EBI, Israel, Japan]
Michelson A.M., Markham A.F., Orkin S.H.;
"Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase.";
Proc. Natl. Acad. Sci. U.S.A. 80:472-476(1983).
[2]
SEQUENCE OF 1-416 FROM NUCLEIC ACID.
MEDLINE=86016816; PubMed=2995995; [NCBI, ExPASy, EBI, Israel, Japan]
Michelson A.M., Blake C.C., Evans S.T., Orkin S.H.;
"Structure of the human phosphoglycerate kinase gene and the intron-mediated evolution and dispersal of the nucleotide-binding domain.";
Proc. Natl. Acad. Sci. U.S.A. 82:6965-6969(1985).
[3]
SEQUENCE.
TISSUE=Erythrocyte;
MEDLINE=80227775; PubMed=7391027; [NCBI, ExPASy, EBI, Israel, Japan]
Huang I.-Y., Welch C.D., Yoshida A.;
"Complete amino acid sequence of human phosphoglycerate kinase. Cyanogen bromide peptides and complete amino acid sequence.";
J. Biol. Chem. 255:6412-6420(1980).
[4]
PARTIAL SEQUENCE.
TISSUE=Placenta;
MEDLINE=90216667; PubMed=2324090; [NCBI, ExPASy, EBI, Israel, Japan]
Jindal H.K., Vishwanatha J.K.;
"Functional identity of a primer recognition protein as phosphoglycerate kinase.";
J. Biol. Chem. 265:6540-6543(1990).
[5]
SEQUENCE OF 1-20 FROM NUCLEIC ACID.
MEDLINE=85155507; PubMed=6099325; [NCBI, ExPASy, EBI, Israel, Japan]
Singer-Sam J., Keith D.H., Tani K., Simmer R.L., Shively L., Lindsay S., Yoshida A., Riggs A.D.;
"Sequence of the promoter region of the gene for human X-linked 3-phosphoglycerate kinase].";
Gene 32:409-417(1984).
[6]
SEQUENCE OF 1-13 FROM NUCLEIC ACID.
MEDLINE=90049205; PubMed=2814502; [NCBI, ExPASy, EBI, Israel, Japan]
Pfeifer G.P., Steigerwald S.D., Mueller P.R., Wold B., Riggs A.D.;
"Genomic sequencing and methylation analysis by ligation mediated PCR.";
Science 246:810-813(1989).
[7]
REVIEW ON VARIANTS.
MEDLINE=97230014; PubMed=9075577; [NCBI, ExPASy, EBI, Israel, Japan]
Yoshida A.;
"Hematologically important mutations: molecular abnormalities of phosphoglycerate kinase.";
Blood Cells Mol. Dis. 22:265-267(1996).
[8]
VARIANT CHRONIC HEMOLYTIC ANEMIA LYS-190 DEL.
MEDLINE=96230923; PubMed=8673469; [NCBI, ExPASy, EBI, Israel, Japan]
Yoshida A., Twele T.W., Dave V., Beutler E.;
"Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama).";
Blood Cells Mol. Dis. 21:179-181(1995).
[9]
VARIANT CHRONIC HEMOLYTIC ANEMIA/MENTAL RETARDATION VAL-163, AND VARIANT RHABDOMYOLYSIS ASN-314.
MEDLINE=94318968; PubMed=8043870; [NCBI, ExPASy, EBI, Israel, Japan]
Cohen-Solal M., Valentin C., Plassa F., Guillemin G., Danze F., Jaisson F., Rosa R.;
"Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Creteil and PGK Amiens.";
Blood 84:898-903(1994).
[10]
VARIANT CHRONIC HEMOLYTIC ANEMIA ALA-251.
MEDLINE=96201344; PubMed=8615693; [NCBI, ExPASy, EBI, Israel, Japan]
Ookawara T., Dave V., Willems P., Martin J.J., de Barsy T., Matthys E., Yoshida A.;
"Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.";
Arch. Biochem. Biophys. 327:35-40(1996).
[11]
VARIANT CHRONIC HEMOLYTIC ANEMIA VAL-284.
MEDLINE=98415729; PubMed=9744480; [NCBI, ExPASy, EBI, Israel, Japan]
Valentin C., Birgens H., Craescu C.T., Broedum-Nielsen K., Cohen-Solal M.;
"A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships.";
Hum. Mutat. 12:280-287(1998).
[12]
VARIANT CONGENITAL NONSPHEROCYTIC ANEMIA PRO-87.
MEDLINE=91159642; PubMed=2001457; [NCBI, ExPASy, EBI, Israel, Japan]
Maeda M., Yoshida A.;
"Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu-->Pro substitution caused by T/A-->C/G transition in exon 3.";
Blood 77:1348-1352(1991).
[13]
VARIANT CHRONIC HEMOLYTIC ANEMIA ARG-315.
MEDLINE=92265933; PubMed=1586722; [NCBI, ExPASy, EBI, Israel, Japan]
Maeda M., Bawle E.V., Kulkarni R., Beutler E., Yoshida A.;
"Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation.";
Blood 79:2759-2762(1992).
[14]
VARIANT MUNCHEN ASN-267.
MEDLINE=80227776; PubMed=7391028; [NCBI, ExPASy, EBI, Israel, Japan]
Fujii H., Krietsch W.K.G., Yoshida A.;
"A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK Munchen) associated with enzyme deficiency.";
J. Biol. Chem. 255:6421-6423(1980).
[15]
VARIANT MUNCHEN ASN-267, AND VARIANT ASN-351.
MEDLINE=81069227; PubMed=7440217; [NCBI, ExPASy, EBI, Israel, Japan]
Huang I.-Y., Fujii H., Yoshida A.;
"Structure and function of normal and variant human phosphoglycerate kinase.";
Hemoglobin 4:601-609(1980).
[16]
VARIANT CHRONIC HEMOLYTIC ANEMIA VAL-157.
MEDLINE=92190498; PubMed=1547346; [NCBI, ExPASy, EBI, Israel, Japan]
Fujii H., Kanno H., Hirono A., Shiomura T., Miwa S.;
"A single amino acid substitution (157 Gly-->Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria.";
Blood 79:1582-1585(1992).
[17]
VARIANT CHRONIC NONSPHEROCYTIC HEMOLYTIC ANEMIA MET-265.
MEDLINE=81223926; PubMed=6941312; [NCBI, ExPASy, EBI, Israel, Japan]
Fujii H., Chen S.-H., Akatsuka J., Miwa S., Yoshida A.;
"Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia.";
Proc. Natl. Acad. Sci. U.S.A. 78:2587-2590(1981).
[18]
VARIANT CHRONIC HEMOLYTIC ANEMIA PRO-205.
MEDLINE=81054987; PubMed=6933565; [NCBI, ExPASy, EBI, Israel, Japan]
Fujii H., Yoshida A.;
"Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia.";
Proc. Natl. Acad. Sci. U.S.A. 77:5461-5465(1980).
Comments
  • FUNCTION: IN ADDITION TO ITS ROLE AS A GLYCOLYTIC ENZYME, IT SEEMS THAT PGK-1 ACTS AS A POLYMERASE ALPHA COFACTOR PROTEIN (PRIMER RECOGNITION PROTEIN).
  • CATALYTIC ACTIVITY: ATP + 3-phospho-D-glycerate = ADP + 3-phospho-D-glyceroyl phosphate.
  • PATHWAY: Second phase of glycolysis; second step.
  • SUBUNIT: Monomer.
  • DISEASE: Defects in PGK1 are generally associated with chronic hemolytic anemia [MIM:311800]; although it can be accompanied by either mental retardation or muscular disease (rhabdomyolysis).
  • SIMILARITY: BELONGS TO THE PHOSPHOGLYCERATE KINASE FAMILY.
Copyright
This SWISS-PROT entry is copyright. It is produced through a collaboration between the Swiss Institute of Bioinformatics and the EMBL outstation - the European Bioinformatics Institute. There are no restrictions on its use by non-profit institutions as long as its content is in no way modified and this statement is not removed. Usage by and for commercial entities requires a license agreement (See http://www.isb-sib.ch/announce/ or send an email to license@isb-sib.ch).
Cross-references
EMBL
V00572; CAA23835.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11968; AAA60079.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11958; AAA60079.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11959; AAA60079.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11960; AAA60079.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11961; AAA60079.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11962; AAA60079.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11963; AAA60079.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11964; AAA60079.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11965; AAA60079.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11966; AAA60079.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11967; AAA60079.1; JOINED.[EMBL / GenBank / DDBJ] [CoDingSequence]
L00160; AAA60078.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
M34017; AAA60103.1; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A00669; KIHUG.
A35739; A35739.
HSSP P00560; 1QPG. [HSSP ENTRY / PDB]
Aarhus/Ghent-2DPAGE 3308; NEPHGE.
Genew HGNC:8896; PGK1.
CleanEx HGNC:8896; PGK1.
MIM 311800 [NCBI / EBI].
GeneCards PGK1.
GeneLynx PGK1; Homo sapiens.
SOURCE PGK1; Homo sapiens.
Ensembl P00558; Homo sapiens. [Entry / Contig view]
InterPro IPR001576; PGK.
Graphical view of domain structure.
Pfam PF00162; PGK; 1.
PRINTS PR00477; PHGLYCKINASE.
PROSITE PS00111; PGLYCERATE_KINASE; 1.
ProDom [Domain structure / List of seq. sharing at least 1 domain].
BLOCKS P00558.
ProtoNet P00558.
ProtoMap P00558.
PRESAGE P00558.
DIP P00558.
ModBase P00558.
SWISS-2DPAGE Get region on 2D PAGE.
Keywords
Transferase; Kinase; Multigene family; Glycolysis; Acetylation; Disease mutation; Polymorphism; Hereditary hemolytic anemia.
Features
KeyFrom   To Length Description
INIT_MET   0     0        
MOD_RES   1     1        ACETYLATION.
VARIANT   87    87        L -> P (IN CONGENITAL NONSPHEROCYTIC ANEMIA; VARIANT MATSUE).
/FTId=VAR_006076.
VARIANT   157   157        G -> V (IN CHRONIC HEMOLYTIC ANEMIA; VARIANT SHIZUOKA).
/FTId=VAR_006077.
VARIANT   163   163        D -> V (IN CHRONIC HEMOLYTIC ANEMIA AND MENTAL RETARDATION; VARIANT AMIENS).
/FTId=VAR_006078.
VARIANT   190   190        MISSING (IN CHRONIC HEMOLYTIC ANEMIA; VARIANT ALABAMA).
/FTId=VAR_006079.
VARIANT   205   205        R -> P (IN CHRONIC HEMOLYTIC ANEMIA; VARIANT UPPSALA).
/FTId=VAR_006080.
VARIANT   251   251        E -> A (IN CHRONIC HEMOLYTIC ANEMIA; VARIANT ANTWERP).
/FTId=VAR_006081.
VARIANT   265   265        V -> M (IN CHRONIC NONSPHEROCYTIC HEMOLYTIC ANEMIA; VARIANT TOKYO).
/FTId=VAR_006082.
VARIANT   267   267        D -> N (IN MUNCHEN; 21% OF ACTIVITY).
/FTId=VAR_006083.
VARIANT   284   284        D -> V (IN CHRONIC HEMOLYTIC ANEMIA; VARIANT HERLEV; 50% OF ACTIVITY).
/FTId=VAR_006084.
VARIANT   314   314        D -> N (IN RHABDOMYOLYSIS; VARIANT CRETEIL).
/FTId=VAR_006085.
VARIANT   315   315        C -> R (IN CHRONIC HEMOLYTIC ANEMIA; VARIANT MICHIGAN).
/FTId=VAR_006086.
VARIANT   351   351        T -> N.
/FTId=VAR_006087.
CONFLICT   38    38        MISSING (IN REF. 3).
SEVIEWER logo Feature table viewer
Sequence information
Length: 417 AA Molecular weight: 44596 Da CRC64: 9940760355AB9CEA [This is a checksum on the sequence]
        10         20         30         40         50         60 
         |          |          |          |          |          | 
SLSNKLTLDK LDVKGKRVVM RVDFNVPMKN NQITNNQRIK AAVPSIKFCL DNGAKSVVLM 

        70         80         90        100        110        120 
         |          |          |          |          |          | 
SHLGRPDGVP MPDKYSLEPV AVELKSLLGK DVLFLKDCVG PEVEKACANP AAGSVILLEN 

       130        140        150        160        170        180 
         |          |          |          |          |          | 
LRFHVEEEGK GKDASGNKVK AEPAKIEAFR ASLSKLGDVY VNDAFGTAHR AHSSMVGVNL 

       190        200        210        220        230        240 
         |          |          |          |          |          | 
PQKAGGFLMK KELNYFAKAL ESPERPFLAI LGGAKVADKI QLINNMLDKV NEMIIGGGMA 

       250        260        270        280        290        300 
         |          |          |          |          |          | 
FTFLKVLNNM EIGTSLFDEE GAKIVKDLMS KAEKNGVKIT LPVDFVTADK FDENAKTGQA 

       310        320        330        340        350        360 
         |          |          |          |          |          | 
TVASGIPAGW MGLDCGPESS KKYAEAVTRA KQIVWNGPVG VFEWEAFARG TKALMDEVVK 

       370        380        390        400        410 
         |          |          |          |          | 
ATSRGCITII GGGDTATCCA KWNTEDKVSH VSTGGGASLE LLEGKVLPGV DALSNIL 

P00558 in FASTA format

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