P32189 (GLPK_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 138.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Glycerol kinase Short name=GK Short name=Glycerokinase EC=2.7.1.30 Alternative name(s): ATP:glycerol 3-phosphotransferase | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 559 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Key enzyme in the regulation of glycerol uptake and metabolism. |
| Catalytic activity | ATP + glycerol = ADP + sn-glycerol 3-phosphate. |
| Pathway | |
| Subcellular location | Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Note: In sperm and fetal tissues, the majority of the enzyme is bound to mitochondria, but in adult tissues, such as liver found in the cytoplasm. |
| Tissue specificity | Highly expressed in the liver, kidney and testis. Isoform 2 and isoform 3 are expressed specifically in testis and fetal liver, but not in the adult liver. |
| Involvement in disease | GK deficiency (GKD) [MIM:307030]: Can be either symptomatic with episodic metabolic and CNS decompensation or asymptomatic with hyperglycerolemia and hyperglyceroluria only. |
| Sequence similarities | Belongs to the FGGY kinase family. |
| Sequence caution | The sequence CAA48346.1 differs from that shown. Reason: Frameshift at positions 201, 210 and 459. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| NR4A1 | P22736 | 3 | EBI-3926629,EBI-721550 |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 3 (identifier: P32189-3) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 1 (identifier: P32189-1) The sequence of this isoform differs from the canonical sequence as follows: 245-250: Missing. 528-556: Missing. | ||||||
| Isoform 2 (identifier: P32189-2) The sequence of this isoform differs from the canonical sequence as follows: 245-250: Missing. | ||||||
| Isoform 4 (identifier: P32189-4) The sequence of this isoform differs from the canonical sequence as follows: 528-556: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 559 | 559 | Glycerol kinase | PRO_0000059535 | |||||
Regions | |||||||||
| Nucleotide binding | 433 – 437 | 5 | ATP By similarity | ||||||
Sites | |||||||||
| Binding site | 20 | 1 | Substrate By similarity | ||||||
| Binding site | 24 | 1 | ATP By similarity | ||||||
| Binding site | 94 | 1 | Substrate By similarity | ||||||
| Binding site | 148 | 1 | Substrate By similarity | ||||||
| Binding site | 265 | 1 | Substrate By similarity | ||||||
| Binding site | 287 | 1 | ATP By similarity | ||||||
| Binding site | 332 | 1 | ATP; via carbonyl oxygen By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 245 – 250 | 6 | Missing in isoform 1 and isoform 2. | VSP_000770 | |||||
| Alternative sequence | 528 – 556 | 29 | Missing in isoform 1 and isoform 4. | VSP_000771 | |||||
| Natural variant | 79 | 1 | N → K. Ref.6 Corresponds to variant rs17857267 [ dbSNP | Ensembl ]. | VAR_068980 | |||||
| Natural variant | 131 | 1 | P → T. Ref.6 Corresponds to variant rs17854203 [ dbSNP | Ensembl ]. | VAR_068981 | |||||
| Natural variant | 185 | 1 | S → N. | VAR_001374 | |||||
| Natural variant | 232 | 1 | N → H. | VAR_001375 | |||||
| Natural variant | 294 | 1 | N → D in GKD. Ref.11 | VAR_015433 | |||||
| Natural variant | 382 | 1 | A → T. | VAR_001376 | |||||
| Natural variant | 446 | 1 | D → V in GKD. Ref.9 | VAR_001377 | |||||
| Natural variant | 509 | 1 | W → R in GKD. Ref.10 | VAR_010138 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene." Guo W., Worley K.C., Adams V., Mason J., Sylvester-Jackson D.E., Zhang Y.-H., Towbin J.A., Fogt D.D., Madu S., Wheeler D.A., McCabe E.R.B. Nat. Genet. 4:367-372(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Liver. |
| [2] | "The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons." Sargent C.A., Young C., Marsh S., Ferguson-Smith M.A., Affara N.A. Hum. Mol. Genet. 3:1317-1324(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2). Tissue: Fetal brain. |
| [3] | "Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation." Sargent C.A., Kidd A., Moore S., Dean J., Besley G.T.N., Affara N.A. J. Med. Genet. 37:434-441(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3). |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [5] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4), VARIANTS LYS-79 AND THR-131. Tissue: Blood and Brain. |
| [7] | "Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue." Sargent C.A., Affara N.A., Bentley E., Pelmear A., Bailey D.M.D., Davey P., Dow D., Leversha M., Aplin H., Besley G.T.N., Ferguson-Smith M.A. Hum. Mol. Genet. 2:97-106(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 77-559 (ISOFORM 3). Tissue: Fetal brain. |
| [8] | "Isolation of the human Xp21 glycerol kinase gene by positional cloning." Walker A.P., Muscatelli F., Monaco A.P. Hum. Mol. Genet. 2:107-114(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 130-559 (ISOFORM 1). Tissue: Fetal liver. |
| [9] | "Mutations and phenotype in isolated glycerol kinase deficiency." Walker A.P., Muscatelli F., Stafford A.N., Chelly J., Dahl N., Blomquist H.K., Delanghe J., Willems P.J., Steinmann B., Monaco A.P. Am. J. Hum. Genet. 58:1205-1211(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GKD VAL-446. |
| [10] | "Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency." Sjarif D.R., Sinke R.J., Duran M., Beemer F.A., Kleijer W.J., Ploos van Amstel J.K., Poll-The B.T. J. Med. Genet. 35:650-656(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GKD ARG-509. |
| [11] | "Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait." Gaudet D., Arsenault S., Perusse L., Vohl M.C., St Pierre J., Bergeron J., Despres J.P., Dewar K., Daly M.J., Hudson T., Rioux J.D. Am. J. Hum. Genet. 66:1558-1568(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GKD ASP-294. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | L13943 mRNA. Translation: AAA52576.1. X78211 Genomic DNA. No translation available. AJ252550 AJ252570 Genomic DNA. Translation: CAB54859.1.AJ252550 AJ252570 Genomic DNA. Translation: CAB54858.1.AJ252550 AJ252570 Genomic DNA. Translation: CAB54857.1.AK313215 mRNA. Translation: BAG36030.1. AC005913 Genomic DNA. No translation available. AC112496 Genomic DNA. No translation available. AC117404 Genomic DNA. No translation available. BC037549 mRNA. Translation: AAH37549.1. BC042421 mRNA. Translation: AAH42421.1. BC071595 mRNA. Translation: AAH71595.1. X68285 mRNA. Translation: CAA48346.1. Frameshift. X69886 mRNA. Translation: CAA49512.1. |
| IPI | IPI00027424. IPI00216066. IPI00216067. IPI00419934. |
| PIR | S36175. I37427. |
| RefSeq | NP_000158.1. NM_000167.5. NP_001121599.1. NM_001128127.2. NP_001191948.1. NM_001205019.1. NP_976325.1. NM_203391.3. |
| UniGene | Hs.1466. |
3D structure databases | |
| ProteinModelPortal | P32189. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P32189. 11 interactions. |
| STRING | 9606.ENSP00000368226. |
PTM databases | |
| PhosphoSite | P32189. |
Polymorphism databases | |
| DMDM | 205830913. |
Proteomic databases | |
| PaxDb | P32189. |
| PRIDE | P32189. |
Protocols and materials databases | |
| DNASU | 2710. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000378943; ENSP00000368226; ENSG00000198814. ENST00000378945; ENSP00000368228; ENSG00000198814. ENST00000378946; ENSP00000368229; ENSG00000198814. |
| GeneID | 2710. |
| KEGG | hsa:2710. |
| UCSC | uc004dch.4. human. uc004dci.4. human. uc010ngj.3. human. uc011mjz.2. human. |
Organism-specific databases | |
| CTD | 2710. |
| GeneCards | GC0XP030671. |
| HGNC | HGNC:4289. GK. |
| MIM | 300474. gene. 307030. phenotype. |
| neXtProt | NX_P32189. |
| Orphanet | 284414. Glycerol kinase deficiency, adult form. 284408. Glycerol kinase deficiency, infantile form. 284411. Glycerol kinase deficiency, juvenile form. |
| PharmGKB | PA28700. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0554. |
| HOGENOM | HOG000222134. |
| HOVERGEN | HBG002451. |
| InParanoid | P32189. |
| KO | K00864. |
Enzyme and pathway databases | |
| Reactome | REACT_111217. Metabolism. |
| UniPathway | UPA00618; UER00672. |
Gene expression databases | |
| ArrayExpress | P32189. |
| Bgee | P32189. |
| CleanEx | HS_GK. |
| Genevestigator | P32189. |
Family and domain databases | |
| InterPro | IPR018485. Carb_kinase_FGGY_C. IPR018483. Carb_kinase_FGGY_CS. IPR018484. Carb_kinase_FGGY_N. IPR005999. Glycerol_kin. [Graphical view] |
| PANTHER | PTHR10196:SF9. PTHR10196:SF9. 1 hit. |
| Pfam | PF02782. FGGY_C. 1 hit. PF00370. FGGY_N. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR01311. glycerol_kin. 1 hit. |
| PROSITE | PS00933. FGGY_KINASES_1. 1 hit. PS00445. FGGY_KINASES_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| BindingDB | P32189. |
| ChEMBL | CHEMBL2300. |
| GenomeRNAi | 2710. |
| NextBio | 10712. |
| SOURCE | Search... |
Entry information
| Entry name | GLPK_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P32189 Secondary accession number(s): A6NJP5 Q9UMP1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with
