DGUOK
entrez
1716
canonical
uniprot
Q16854
canonical
ensembl
ENSG00000114956
resolver
ensp
ENSP00000264093
resolver
ensp
ENSP00000306964
resolver
ensp
ENSP00000563436
resolver
ensp
ENSP00000563437
resolver
ensp
ENSP00000563438
resolver
ensp
ENSP00000654192
resolver
genesymbol
DGUOK
resolver
genesymbol_syn
DGK
resolver
hgnc
HGNC:2858
resolver
uniprot
E5KSL5
resolver
uniprot
P78532
resolver
uniprot
Q16759
resolver
uniprot
Q4ZG09
resolver
uniprot
Q7L1W9
resolver
uniprot
Q96BC1
resolver
uniprot_entry
DGUOK_HUMAN
resolver
uniprot_entry
E5KSL5_HUMAN
resolver
uniprot_sec
P78532
resolver
uniprot_sec
Q16759
resolver
uniprot_sec
Q4ZG09
resolver
uniprot_sec
Q7L1W9
resolver
uniprot_sec
Q96BC1
resolver
amino_acid_sequence
MAAGRLFLSRLRAPFSSMAKSPLEGVSSSRGLHAGRGPRRLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]: A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion. {ECO:0000269|PubMed:12205643, ECO:0000269|PubMed:15639197}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Portal hypertension, non-cirrhotic, 1 (NCPH1) [MIM:617068]: An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis, extrahepatic diseases, and splanchnic venous thrombosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH1 patients show normal liver function. {ECO:0000269|PubMed:17073823, ECO:0000269|PubMed:26874653}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]: A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB4 patients manifest clinically variable features including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis, and adult-onset lower motor neuron syndrome with mild cognitive impairment. {ECO:0000269|PubMed:23043144}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.113
uniprot
proteins
ec_number
2.7.1.76
uniprot
proteins
function
FUNCTION: Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine (PubMed:11687801, PubMed:17073823, PubMed:23043144, PubMed:8692979, PubMed:8706825). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs (By similarity). Widely used as target of antiviral and chemotherapeutic agents. {ECO:0000250|UniProtKB:Q9QX60, ECO:0000269|PubMed:11687801, ECO:0000269|PubMed:17073823, ECO:0000269|PubMed:23043144, ECO:0000269|PubMed:8692979, ECO:0000269|PubMed:8706825}.
uniprot
proteins
mass_dalton
32056
uniprot
proteins
protein_family
DCK/DGK family
uniprot
proteins
pubmed
11427893
uniprot
proteins
pubmed
11687801
uniprot
proteins
pubmed
12205643
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15639197
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17073823
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
23043144
uniprot
proteins
pubmed
26874653
uniprot
proteins
pubmed
8692979
uniprot
proteins
pubmed
8706825
uniprot
proteins
sequence_length
277
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q9QX60}.
uniprot
proteins