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GUK1 guanylate kinase 1 [ Homo sapiens (human) ]

Gene ID: 2987, updated on 24-Nov-2020

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
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

Genomic context

See GUK1 in Genome Data Viewer
Location:
1q42.13
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (228140084..228148955)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228327668..228336656)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 96 member A pseudogene 2 Neighboring gene ribosomal protein S28 pseudogene 3 Neighboring gene gap junction protein gamma 2 Neighboring gene IBA57 divergent transcript

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42686, FLJ43710

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
guanylate kinase activity EXP
Inferred from Experiment
more info
PubMed 
guanylate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanylate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
guanylate kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP metabolic process IEA
Inferred from Electronic Annotation
more info
 
GDP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
GDP-mannose metabolic process IEA
Inferred from Electronic Annotation
more info
 
GMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
dATP metabolic process IEA
Inferred from Electronic Annotation
more info
 
dGDP biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
dGMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
glycoprotein transport IEA
Inferred from Electronic Annotation
more info
 
nucleobase-containing small molecule interconversion TAS
Traceable Author Statement
more info
 
nucleotide phosphorylation IEA
Inferred from Electronic Annotation
more info
 
purine nucleotide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
photoreceptor inner segment ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_000858.7NP_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
    Q16774
    UniProtKB/TrEMBL
    Q6IBG8
    Related
    ENSP00000317659.4, ENST00000312726.8
    Conserved Domains (1) summary
    TIGR03263
    Location:5187
    guanyl_kin; guanylate kinase
  2. NM_001159390.2NP_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/Swiss-Prot
    Q16774
    UniProtKB/TrEMBL
    Q6IBG8
    Related
    ENSP00000375738.3, ENST00000391865.7
    Conserved Domains (2) summary
    TIGR03263
    Location:26208
    guanyl_kin; guanylate kinase
    pfam00625
    Location:24209
    Guanylate_kin; Guanylate kinase
  3. NM_001159391.3NP_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
    Q16774
    UniProtKB/TrEMBL
    Q6IBG8
    Related
    ENSP00000355679.1, ENST00000366718.5
    Conserved Domains (1) summary
    TIGR03263
    Location:5187
    guanyl_kin; guanylate kinase
  4. NM_001242839.1NP_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
    Q16774
    UniProtKB/TrEMBL
    Q6IBG8
    Related
    ENSP00000355691.1, ENST00000366730.5
    Conserved Domains (1) summary
    TIGR03263
    Location:5187
    guanyl_kin; guanylate kinase
  5. NM_001242840.3NP_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:26182
    guanyl_kin; guanylate kinase
    pfam00625
    Location:24179
    Guanylate_kin; Guanylate kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005273104.5XP_005273161.1  guanylate kinase isoform X1

    See identical proteins and their annotated locations for XP_005273161.1

    UniProtKB/TrEMBL
    A0A024R3U5
    Related
    ENSP00000407604.1, ENST00000412265.5
    Conserved Domains (2) summary
    TIGR03263
    Location:71253
    guanyl_kin; guanylate kinase
    pfam00625
    Location:69254
    Guanylate_kin; Guanylate kinase
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