GUK1
entrez
2987
canonical
uniprot
Q16774
canonical
ensembl
ENSG00000143774
resolver
ensp
ENSP00000355689
resolver
ensp
ENSP00000355691
resolver
ensp
ENSP00000401832
resolver
ensp
ENSP00000651021
resolver
ensp
ENSP00000696449
resolver
genesymbol
GUK1
resolver
genesymbol_syn
GMK
resolver
genesymbol_syn
GMPK
resolver
hgnc
HGNC:4693
resolver
uniprot
A0A024R3S8
resolver
uniprot
B1ANH1
resolver
uniprot
Q6IBG8
resolver
uniprot_entry
KGUA_HUMAN
resolver
uniprot_entry
Q6IBG8_HUMAN
resolver
uniprot_sec
A0A024R3S8
resolver
uniprot_sec
B1ANH1
resolver
activity_regulation
ACTIVITY REGULATION: Up-regulated by RD3. {ECO:0000250|UniProtKB:P46195}.
uniprot
proteins
amino_acid_sequence
MSGPRPVVLSGPSGAGKSTLLKRLLQEHSGIFGFSVSHTTRNPRPGEENGKDYYFVTREVMQRDIAAGDFIEHAEFSGNLYGTSKVAVQAVQAMNRICVLDVDLQGVRNIKATDLRPIYISVQPPSLHVLEQRLRQRNTETEESLVKRLAAAQADMESSKEPGLFDVVIINDSLDQAYAELKEALSEEIKKAQRTGA
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial DNA depletion syndrome 21 (MTDPS21) [MIM:621071]: An autosomal recessive mitochondrial disorder characterized by ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Multiple mtDNA deletions and depletion are detected in muscle, as well as mitochondrial respiratory chain deficiencies. {ECO:0000269|PubMed:39230499}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.4.8
uniprot
proteins
function
FUNCTION: Catalyzes the phosphorylation of GMP to GDP. Essential enzyme for recycling GMP and indirectly, cyclic GMP (cGMP) (PubMed:31201273). Involved in the cGMP metabolism in photoreceptors (By similarity). It may also have a role in the survival and growth progression of some tumors (PubMed:31201273). In addition to its physiological role, GUK1 is essential for converting prodrugs used for the treatment of cancers and viral infections into their pharmacologically active metabolites, most notably acyclovir, ganciclovir, and 6-thioguanine and its closely related analog 6-mercaptopurine (PubMed:197968, PubMed:6248551, PubMed:6306664). {ECO:0000250|UniProtKB:P46195, ECO:0000269|PubMed:197968, ECO:0000269|PubMed:31201273, ECO:0000269|PubMed:6248551, ECO:0000269|PubMed:6306664}.
uniprot
proteins
mass_dalton
21726
uniprot
proteins
mutagenesis
MUTAGEN 2; /note="S->L: Increases in kcat with GMP as substrate."; /evidence="ECO:0000269|PubMed:31201273"; MUTAGEN 3; /note="G->A: Increases in kcat with GMP as substrate."; /evidence="ECO:0000269|PubMed:31201273"; MUTAGEN 25; /note="L->P: Leads to aggregation. Increases in kcat with GMP as substrate."; /evidence="ECO:0000269|PubMed:31201273"; MUTAGEN 91; /note="V->M: Increases in kcat with GMP as substrate."; /evidence="ECO:0000269|PubMed:31201273"; MUTAGEN 96; /note="R->H: Increases in kcat with GMP as substrate."; /evidence="ECO:0000269|PubMed:31201273"; MUTAGEN 116; /note="R->Q: Increases in kcat with GMP as substrate."; /evidence="ECO:0000269|PubMed:31201273"; MUTAGEN 121; /note="S->F: Increases in kcat with GMP as substrate."; /evidence="ECO:0000269|PubMed:31201273"; MUTAGEN 186; /note="S->Y: Increases in kcat with GMP as substrate."; /evidence="ECO:0000269|PubMed:31201273
uniprot
proteins
protein_family
Guanylate kinase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
197968
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29515371
uniprot
proteins
pubmed
31201273
uniprot
proteins
pubmed
39190717
uniprot
proteins
pubmed
39230499
uniprot
proteins
pubmed
6248551
uniprot
proteins
pubmed
6306664
uniprot
proteins
pubmed
8647247
uniprot
proteins
pubmed
8663313
uniprot
proteins
sequence_length
197
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor inner segment {ECO:0000250|UniProtKB:Q64520}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q64520}. Note=Colocalizes with RD3 in photoreceptor inner segments and to a lesser extent in the outer plexiform layer. {ECO:0000250|UniProtKB:Q64520}.; SUBCELLULAR LOCATION: [Isoform 2]: Mitochondrion {ECO:0000269|PubMed:39230499}.
uniprot
proteins