GUK1 guanylate kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GUK1provided by HGNC
Official Full Name: guanylate kinase 1provided by HGNC
Primary source: HGNC:HGNC:4693
See related: Ensembl:ENSG00000143774 MIM:139270; AllianceGenome:HGNC:4693
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GMK
Summary: 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]
Expression: Ubiquitous expression in bone marrow (RPKM 25.0), adrenal (RPKM 18.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (228140084..228148955)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (227329084..227337952)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (228327785..228336656)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GUK1 expression in healthy palatal mucosa is strongly negatively correlated with serum cotinine levels
Title: Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.
HGS and GUK1 were significantly over expressed in GH-secreting adenomas, compared with ACTH-secreting adenomas and nonfunctioning tumors, and with PRL-secreting adenomas, respectively.
Title: Hepatocyte growth factor-regulated tyrosine kinase substrate (HGS) and guanylate kinase 1 (GUK1) are differentially expressed in GH-secreting adenomas.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80270 (e-PCR)
- UniSTS:85332

SHGC-76460 (e-PCR)
- UniSTS:38548

RH78169 (e-PCR)
- UniSTS:10196

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables guanylate kinase activity	EXP Inferred from Experiment more info	PubMed
enables guanylate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanylate kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables guanylate kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables guanylate kinase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GDP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in GDP-mannose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in GMP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in dATP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in dGDP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dGMP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycoprotein transport	IEA Inferred from Electronic Annotation more info
involved_in nucleobase-containing small molecule interconversion	TAS Traceable Author Statement more info
involved_in purine nucleotide metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in photoreceptor inner segment	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: guanylate kinase

Names: ATP:GMP phosphotransferase; GMP kinase

NP_000849.1

EC 2.7.4.8

NP_001152862.1

EC 2.7.4.8

NP_001152863.1

EC 2.7.4.8

NP_001229768.1

EC 2.7.4.8

NP_001229769.1

EC 2.7.4.8

XP_005273161.1

EC 2.7.4.8

XP_047274642.1

EC 2.7.4.8

XP_047274643.1

EC 2.7.4.8

XP_047274644.1

EC 2.7.4.8

XP_047274646.1

EC 2.7.4.8

XP_047274647.1

EC 2.7.4.8

XP_047274649.1

EC 2.7.4.8

XP_047274650.1

EC 2.7.4.8

XP_047274652.1

EC 2.7.4.8

XP_054192150.1

EC 2.7.4.8

XP_054192151.1

EC 2.7.4.8

XP_054192152.1

EC 2.7.4.8

XP_054192153.1

EC 2.7.4.8

XP_054192154.1

EC 2.7.4.8

XP_054192155.1

EC 2.7.4.8

XP_054192156.1

EC 2.7.4.8

XP_054192157.1

EC 2.7.4.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000858.7 → NP_000849.1 guanylate kinase isoform b

See identical proteins and their annotated locations for NP_000849.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and contains an alternate coding exon in the 3' end compared to variant 5, that causes a frameshift. The resulting isoform (b) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform c. Variants 2, 3, and 4 all encode the same isoform.

Source sequence(s)

AW083682, BC006249, BM790067

Consensus CDS

CCDS1568.1

UniProtKB/Swiss-Prot

B1ANH1, Q16774

UniProtKB/TrEMBL

A0A024R3S8, Q6IBG8, Q96IN2

Conserved Domains (1) summary

TIGR03263
Location:5 → 187

guanyl_kin; guanylate kinase
NM_001159390.2 → NP_001152862.1 guanylate kinase isoform a

See identical proteins and their annotated locations for NP_001152862.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) contains an alternate coding exon in the 3' end compared to variant 5, that causes a frameshift. The resulting isoform (a) has a shorter and distinct C-terminus compared to isoform c.

Source sequence(s)

AW083682, BC091480, BM790067

Consensus CDS

CCDS53481.1

UniProtKB/TrEMBL

B1ANH0

Related

ENSP00000401832.2, ENST00000453943.6

Conserved Domains (2) summary

TIGR03263
Location:26 → 208

guanyl_kin; guanylate kinase

pfam00625
Location:24 → 209

Guanylate_kin; Guanylate kinase
NM_001159391.3 → NP_001152863.1 guanylate kinase isoform b

See identical proteins and their annotated locations for NP_001152863.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and contains an alternate coding exon in the 3' end compared to variant 5, that causes a frameshift. The resulting isoform (b) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform c. Variants 2, 3, and 4 all encode the same isoform.

Source sequence(s)

AL359510, AW083682, BC091480, BE780558, BQ638787

Consensus CDS

CCDS1568.1

UniProtKB/Swiss-Prot

B1ANH1, Q16774

UniProtKB/TrEMBL

A0A024R3S8, Q6IBG8, Q96IN2

Related

ENST00000366716.1

Conserved Domains (1) summary

TIGR03263
Location:5 → 187

guanyl_kin; guanylate kinase
NM_001242839.1 → NP_001229768.1 guanylate kinase isoform b

See identical proteins and their annotated locations for NP_001229768.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and contains an alternate coding exon in the 3' end compared to variant 5, that causes a frameshift. The resulting isoform (b) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform c. Variants 2, 3, and 4 all encode the same isoform.

Source sequence(s)

AL359510, BI771824

Consensus CDS

CCDS1568.1

UniProtKB/Swiss-Prot

B1ANH1, Q16774

UniProtKB/TrEMBL

A0A024R3S8, Q6IBG8, Q96IN2

Related

ENSP00000355691.1, ENST00000366730.5

Conserved Domains (1) summary

TIGR03263
Location:5 → 187

guanyl_kin; guanylate kinase
NM_001242840.3 → NP_001229769.1 guanylate kinase isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (5) encodes the longest isoform (c).

Source sequence(s)

AL359510, BU194785

Consensus CDS

CCDS55689.1

UniProtKB/Swiss-Prot

Q16774

Related

ENSP00000355689.2, ENST00000366728.6

Conserved Domains (2) summary

TIGR03263
Location:26 → 182

guanyl_kin; guanylate kinase

pfam00625
Location:24 → 179

Guanylate_kin; Guanylate kinase