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GUK1 guanylate kinase 1 [ Homo sapiens (human) ]

Gene ID: 2987, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See GUK1 in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene CIAO2A pseudogene 2 Neighboring gene ribosomal protein S28 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228331588-228332114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228332115-228332639 Neighboring gene gap junction protein gamma 2 Neighboring gene uncharacterized LOC124904534 Neighboring gene IBA57 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Guanylate kinases from human erythrocytes, hog brain, and rat liver. Agarwal KC, et al. Methods Enzymol, 1978. PMID 211390
  2. [Increase in 5'-nucleotidase and decrease in guanylate kinase activity in the brain and liver of irradiated rats]. Savitskiĭ IV. Ukr Biokhim Zh (1978), 1990 Mar-Apr. PMID 2164269
  3. Evidence for the assignment of GUK 1 gene locus to 1q32 leads to q43 segment from gene dosage effect. Dallapiccola B, et al. Ann Genet, 1980. PMID 6249178
  4. Guanosine-5'-phosphate synthetase and guanosine-5'-phosphate kinase in rat hepatomas and kidney tumors. Boritzki TJ, et al. Biochim Biophys Acta, 1981 Mar 13. PMID 6260205
  5. Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation. Fitzgibbon J, et al. FEBS Lett, 1996 May 6. PMID 8647247

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42686, FLJ43710

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 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
NP_001152862.1
NP_001152863.1
NP_001229768.1
NP_001229769.1
XP_005273161.1
XP_047274642.1
XP_047274643.1
XP_047274644.1
XP_047274646.1
XP_047274647.1
XP_047274649.1
XP_047274650.1
XP_047274652.1
XP_054192150.1
XP_054192151.1
XP_054192152.1
XP_054192153.1
XP_054192154.1
XP_054192155.1
XP_054192156.1
XP_054192157.1

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)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    228140084..228148955
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418686.1 → XP_047274642.1  guanylate kinase isoform X1

  2. XM_047418688.1 → XP_047274644.1  guanylate kinase isoform X2

  3. XM_047418696.1 → XP_047274652.1  guanylate kinase isoform X5

  4. XM_047418690.1 → XP_047274646.1  guanylate kinase isoform X3

  5. XM_005273104.6 → XP_005273161.1  guanylate kinase isoform X2

    See identical proteins and their annotated locations for XP_005273161.1

    Conserved Domains (2) summary
    TIGR03263
    Location:71 → 253
    guanyl_kin; guanylate kinase
    pfam00625
    Location:69 → 254
    Guanylate_kin; Guanylate kinase

  6. XM_047418687.1 → XP_047274643.1  guanylate kinase isoform X1

  7. XM_047418691.1 → XP_047274647.1  guanylate kinase isoform X3

  8. XM_047418693.1 → XP_047274649.1  guanylate kinase isoform X4

  9. XM_047418694.1 → XP_047274650.1  guanylate kinase isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    227329084..227337952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336182.1 → XP_054192157.1  guanylate kinase isoform X5

  2. XM_054336178.1 → XP_054192153.1  guanylate kinase isoform X3

  3. XM_054336176.1 → XP_054192151.1  guanylate kinase isoform X2

  4. XM_054336175.1 → XP_054192150.1  guanylate kinase isoform X1

  5. XM_054336179.1 → XP_054192154.1  guanylate kinase isoform X3

  6. XM_054336180.1 → XP_054192155.1  guanylate kinase isoform X4

  7. XM_054336177.1 → XP_054192152.1  guanylate kinase isoform X2

  8. XM_054336181.1 → XP_054192156.1  guanylate kinase isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16774.2 GenPept UniProtKB/Swiss-Prot:Q16774

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