Human Gene GUK1 (ENST00000453943.6_5) from GENCODE V47lift37

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Description: guanylate kinase 1, transcript variant 1 (from RefSeq NM_001159390.2)
Gencode Transcript: ENST00000453943.6_5
Gencode Gene: ENSG00000143774.18_12
Transcript (Including UTRs)
Position: hg19 chr1:228,327,980-228,336,652 Size: 8,673 Total Exon Count: 8 Strand: +
Coding Region
Position: hg19 chr1:228,328,004-228,336,398 Size: 8,395 Coding Exon Count: 8

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr1:228,327,980-228,336,652)			mRNA (may differ from genome)		Protein (218 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: KGUA_HUMAN DESCRIPTION: RecName: Full=Guanylate kinase; EC=2.7.4.8; AltName: Full=GMP kinase; FUNCTION: Essential for recycling GMP and indirectly, cGMP. CATALYTIC ACTIVITY: ATP + GMP = ADP + GDP. SUBUNIT: Monomer (By similarity). MISCELLANEOUS: In addition to phosphorylating GMP, antiviral prodrugs such as acyclovir, ganciclovir, and carbovir and anticancer prodrugs such as the thiopurines are dependent on GMPK for their activation. SIMILARITY: Belongs to the guanylate kinase family. SIMILARITY: Contains 1 guanylate kinase-like domain.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: GUK1 Diseases sorted by gene-association score: retinitis pigmentosa (0)

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D014635 Valproic Acid C006253 pirinixic acid C023514 2,6-dinitrotoluene C028451 3,4,3',4'-tetrachlorobiphenyl D015127 9,10-Dimethyl-1,2-benzanthracene D001241 Aspirin D001564 Benzo(a)pyrene D019256 Cadmium Chloride D020111 Chlorodiphenyl (54% Chlorine) D002945 Cisplatin more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 94.44 RPKM in Whole Blood Total median expression: 2368.98 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-7.20	24	-0.300	Picture	PostScript	Text
3' UTR	-94.80	254	-0.373	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR008144 - Guanylate_kin
IPR008145 - Guanylate_kin/L-typ_Ca_channel
IPR020590 - Guanylate_kinase_CS
IPR017665 - Guanylate_kinase_sub

Pfam Domains:
PF00625 - Guanylate kinase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

ModBase Predicted Comparative 3D Structure on Q16774


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	Genome Browser	No ortholog
Gene Details	Gene Details		Gene Details	Gene Details
Gene Sorter	Gene Sorter		Gene Sorter	Gene Sorter
	RGD			WormBase
				Protein Sequence
				Alignment

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0000166 nucleotide binding GO:0004385 guanylate kinase activity GO:0005524 ATP binding GO:0016301 kinase activity GO:0016740 transferase activity Biological Process: GO:0006163 purine nucleotide metabolic process GO:0006185 dGDP biosynthetic process GO:0015949 nucleobase-containing small molecule interconversion GO:0016310 phosphorylation GO:0019673 GDP-mannose metabolic process GO:0034436 glycoprotein transport GO:0046034 ATP metabolic process GO:0046037 GMP metabolic process GO:0046054 dGMP metabolic process GO:0046060 dATP metabolic process GO:0046711 GDP biosynthetic process GO:0046939 nucleotide phosphorylation Cellular Component: GO:0005829 cytosol

Descriptions from all associated GenBank mRNAs


	LF384736 - JP 2014500723-A/192239: Polycomb-Associated Non-Coding RNAs. AK303845 - Homo sapiens cDNA FLJ54844 complete cds, highly similar to Guanylate kinase (EC 2.7.4.8). BC006249 - Homo sapiens guanylate kinase 1, mRNA (cDNA clone MGC:10618 IMAGE:3946293), complete cds. E01719 - cDNA encoding human HCGPF polypeptide. E01720 - cDNA encoding human HCGPF polypeptide. E01721 - cDNA encoding human HCGPF polypeptide. E01802 - cDNA encoding human hematopoietic cells growth potentiating factor,HCGPF. BC091480 - Homo sapiens guanylate kinase 1, mRNA (cDNA clone MGC:110933 IMAGE:30340102), complete cds. BC009914 - Homo sapiens guanylate kinase 1, mRNA (cDNA clone MGC:2715 IMAGE:2821563), complete cds. BC069001 - Homo sapiens guanylate kinase 1, mRNA (cDNA clone IMAGE:5423344), with apparent retained intron. AK125698 - Homo sapiens cDNA FLJ43710 fis, clone TESOP2002950. AL832986 - Homo sapiens mRNA; cDNA DKFZp666D023 (from clone DKFZp666D023). AK124677 - Homo sapiens cDNA FLJ42686 fis, clone BRAMY3001401. JD340200 - Sequence 321224 from Patent EP1572962. KJ891315 - Synthetic construct Homo sapiens clone ccsbBroadEn_00709 GUK1 gene, encodes complete protein. U66895 - Human guanylate kinase (gmk) mRNA, complete cds. CR456836 - Homo sapiens full open reading frame cDNA clone RZPDo834H104D for gene GUK1, guanylate kinase 1; complete cds, incl. stopcodon. CR542006 - Homo sapiens full open reading frame cDNA clone RZPDo834H0135D for gene GUK1, guanylate kinase 1; complete cds, without stopcodon. L76200 - Human guanylate kinase (GUK1) mRNA, complete cds. JD025074 - Sequence 6098 from Patent EP1572962. JD027979 - Sequence 9003 from Patent EP1572962. BC007369 - Homo sapiens guanylate kinase 1, mRNA (cDNA clone IMAGE:3633616), partial cds. JD395081 - Sequence 376105 from Patent EP1572962. JD027016 - Sequence 8040 from Patent EP1572962. JD394265 - Sequence 375289 from Patent EP1572962. JD142068 - Sequence 123092 from Patent EP1572962. JD474887 - Sequence 455911 from Patent EP1572962. JD393639 - Sequence 374663 from Patent EP1572962. JD136494 - Sequence 117518 from Patent EP1572962. MA620313 - JP 2018138019-A/192239: Polycomb-Associated Non-Coding RNAs.

Biochemical and Signaling Pathways


	BioCyc Knowledge Library PWY-7221 - guanosine ribonucleotides de novo biosynthesis PWY-7224 - purine deoxyribonucleosides salvage PWY-7228 - guanosine nucleotides de novo biosynthesis PWY-841 - purine nucleotides de novo biosynthesis PWY66-409 - superpathway of purine nucleotide salvage BioCarta from NCI Cancer Genome Anatomy Project h_PDZsPathway - Synaptic Proteins at the Synaptic Junction Reactome (by CSHL, EBI, and GO) Protein Q16774 (Reactome details) participates in the following event(s): R-HSA-73788 (d)GMP + ATP <=> (d)GDP + ADP (GUK1) R-HSA-110133 (d)GDP + ADP <=> (d)GMP + ATP (GUK1) R-HSA-2162092 carbovir monophosphate + ATP => carbovir diphosphate + ADP R-HSA-499943 Interconversion of nucleotide di- and triphosphates R-HSA-2161541 Abacavir metabolism R-HSA-15869 Metabolism of nucleotides R-HSA-2161522 Abacavir transport and metabolism R-HSA-1430728 Metabolism

Other Names for This Gene


	Alternate Gene Symbols: B1ANH1, ENST00000453943.1, ENST00000453943.2, ENST00000453943.3, ENST00000453943.4, ENST00000453943.5, GMK, GMPK , GUK1 , KGUA_HUMAN, NM_001159390, Q16774, uc320vde.1, uc320vde.2 UCSC ID: ENST00000453943.6_5 RefSeq Accession: NM_001159390.2 Protein: Q16774 (aka KGUA_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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