GUK1
Guanylate kinase
Also known as: KGUA_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q16774
- Gene
- GUK1
- Ensembl
- ENSG00000143774
- Chromosome
- 1
- Canonical length
- 197 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Golgi apparatus,Plasma membrane
OverviewNCBI Gene
The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Canonical amino-acid sequenceUniProt
197 residues, UniProt reviewed canonical sequence.
>Q16774|GUK1
1 MSGPRPVVLS GPSGAGKSTL LKRLLQEHSG IFGFSVSHTT RNPRPGEENG KDYYFVTREV
61 MQRDIAAGDF IEHAEFSGNL YGTSKVAVQA VQAMNRICVL DVDLQGVRNI KATDLRPIYI
121 SVQPPSLHVL EQRLRQRNTE TEESLVKRLA AAQADMESSK EPGLFDVVII NDSLDQAYAE
181 LKEALSEEIK KAQRTGALocalizationUniProt · AlphaFold · HPA
Whether an antibody against GUK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 464 nTPM
Expression across tissuesHPA
Tissue
- amygdala: 464 nTPM
- hippocampal formation: 396 nTPM
- cerebral cortex: 394 nTPM
- basal ganglia: 305 nTPM
- midbrain: 257 nTPM
- spinal cord: 216 nTPM
Single-cell type
- esophageal apical cells: 2,580 nCPM
- esophageal suprabasal cells: 2,047 nCPM
- late spermatids: 1,061 nCPM
- cone photoreceptor cells: 892 nCPM
- esophageal basal cells: 890 nCPM
- suprabasal keratinocytes: 786 nCPM
Immune cell
- eosinophil: 557 nTPM
- total PBMC: 483 nTPM
- plasmacytoid DC: 479 nTPM
- memory CD8 T-cell: 379 nTPM
- neutrophil: 360 nTPM
- gdT-cell: 347 nTPM
Brain region
- hippocampal formation: 138 nTPM
- amygdala: 132 nTPM
- thalamus: 132 nTPM
- cerebral cortex: 131 nTPM
- white matter: 129 nTPM
- spinal cord: 117 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GUK1.
Disease | AllUniProt
Conditions GUK1 is implicated in, by any mechanism.
- Mitochondrial DNA depletion syndrome 21 (MTDPS21) MIM:621071
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 74 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Mitochondrial dna depletion syndrome 21
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.43
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.08
- DepMap mean gene effect
- -1.26
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- dGMP metabolic process
- GDP-mannose metabolic process
- glycoprotein transport
- nucleobase-containing small molecule interconversion
- purine nucleotide metabolic process
- xenobiotic metabolic process
- dATP metabolic process
- dGDP biosynthetic process
- GDP biosynthetic process
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GUK1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GUK1 as an antibody target. Whether an autoantibody or antibody against GUK1 could matter depends on whether native GUK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GUK1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GUK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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