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GUK1 (guanylate kinase 1)

Identity

Other aliasGMK
HGNC (Hugo) GUK1
LocusID (NCBI) 2987
Atlas_Id 50432
Location 1q42.13  [Link to chromosome band 1q42]
Location_base_pair Starts at 228140228 and ends at 228148954 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GUK1 (1q42.13) / ARF1 (1q42.13)GUK1 (1q42.13) / ARFGAP1 (20q13.33)GUK1 (1q42.13) / CGA (6q14.3)
GUK1 (1q42.13) / FADS2 (11q12.2)GUK1 (1q42.13) / GUK1 (1q42.13)GUK1 (1q42.13) / KDM5C (Xp11.22)
GUK1 (1q42.13) / RP9 (7p14.3)GUK1 (1q42.13) / SMARCC1 (3p21.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GUK1   4693
Cards
Entrez_Gene (NCBI)GUK1  2987  guanylate kinase 1
AliasesGMK
GeneCards (Weizmann)GUK1
Ensembl hg19 (Hinxton)ENSG00000143774 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143774 [Gene_View]  chr1:228140228-228148954 [Contig_View]  GUK1 [Vega]
ICGC DataPortalENSG00000143774
TCGA cBioPortalGUK1
AceView (NCBI)GUK1
Genatlas (Paris)GUK1
WikiGenes2987
SOURCE (Princeton)GUK1
Genetics Home Reference (NIH)GUK1
Genomic and cartography
GoldenPath hg38 (UCSC)GUK1  -     chr1:228140228-228148954 +  1q42.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GUK1  -     1q42.13   [Description]    (hg19-Feb_2009)
EnsemblGUK1 - 1q42.13 [CytoView hg19]  GUK1 - 1q42.13 [CytoView hg38]
Mapping of homologs : NCBIGUK1 [Mapview hg19]  GUK1 [Mapview hg38]
OMIM139270   
Gene and transcription
Genbank (Entrez)AK124677 AK125698 AK303845 AL832986 AW083682
RefSeq transcript (Entrez)NM_000858 NM_001159390 NM_001159391 NM_001242839 NM_001242840
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GUK1
Cluster EST : UnigeneHs.376933 [ NCBI ]
CGAP (NCI)Hs.376933
Alternative Splicing GalleryENSG00000143774
Gene ExpressionGUK1 [ NCBI-GEO ]   GUK1 [ EBI - ARRAY_EXPRESS ]   GUK1 [ SEEK ]   GUK1 [ MEM ]
Gene Expression Viewer (FireBrowse)GUK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2987
GTEX Portal (Tissue expression)GUK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16774   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16774  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16774
Splice isoforms : SwissVarQ16774
Catalytic activity : Enzyme2.7.4.8 [ Enzyme-Expasy ]   2.7.4.82.7.4.8 [ IntEnz-EBI ]   2.7.4.8 [ BRENDA ]   2.7.4.8 [ KEGG ]   
PhosPhoSitePlusQ16774
Domaine pattern : Prosite (Expaxy)GUANYLATE_KINASE_1 (PS00856)    GUANYLATE_KINASE_2 (PS50052)   
Domains : Interpro (EBI)GK/Ca_channel_bsu    Guanylate_kin-like_dom    Guanylate_kinase    Guanylate_kinase_CS    P-loop_NTPase   
Domain families : Pfam (Sanger)Guanylate_kin (PF00625)   
Domain families : Pfam (NCBI)pfam00625   
Domain families : Smart (EMBL)GuKc (SM00072)  
Conserved Domain (NCBI)GUK1
DMDM Disease mutations2987
Blocks (Seattle)GUK1
SuperfamilyQ16774
Human Protein AtlasENSG00000143774
Peptide AtlasQ16774
HPRD00755
IPIIPI00182293   IPI00514021   IPI00470394   IPI00644488   IPI00514926   IPI00514083   IPI00514494   IPI00513820   IPI00515106   
Protein Interaction databases
DIP (DOE-UCLA)Q16774
IntAct (EBI)Q16774
FunCoupENSG00000143774
BioGRIDGUK1
STRING (EMBL)GUK1
ZODIACGUK1
Ontologies - Pathways
QuickGOQ16774
Ontology : AmiGOguanylate kinase activity  guanylate kinase activity  ATP binding  cytosol  cytosol  purine nucleotide metabolic process  dGDP biosynthetic process  nucleobase-containing small molecule interconversion  GDP-mannose metabolic process  glycoprotein transport  ATP metabolic process  GMP metabolic process  dGMP metabolic process  dATP metabolic process  GDP biosynthetic process  nucleotide phosphorylation  
Ontology : EGO-EBIguanylate kinase activity  guanylate kinase activity  ATP binding  cytosol  cytosol  purine nucleotide metabolic process  dGDP biosynthetic process  nucleobase-containing small molecule interconversion  GDP-mannose metabolic process  glycoprotein transport  ATP metabolic process  GMP metabolic process  dGMP metabolic process  dATP metabolic process  GDP biosynthetic process  nucleotide phosphorylation  
Pathways : BIOCARTASynaptic Proteins at the Synaptic Junction [Genes]   
Pathways : KEGGPurine metabolism   
NDEx NetworkGUK1
Atlas of Cancer Signalling NetworkGUK1
Wikipedia pathwaysGUK1
Orthology - Evolution
OrthoDB2987
GeneTree (enSembl)ENSG00000143774
Phylogenetic Trees/Animal Genes : TreeFamGUK1
HOVERGENQ16774
HOGENOMQ16774
Homologs : HomoloGeneGUK1
Homology/Alignments : Family Browser (UCSC)GUK1
Gene fusions - Rearrangements
Fusion : MitelmanGUK1/ARF1 [1q42.13/1q42.13]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGUK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GUK1
dbVarGUK1
ClinVarGUK1
1000_GenomesGUK1 
Exome Variant ServerGUK1
ExAC (Exome Aggregation Consortium)GUK1 (select the gene name)
Genetic variants : HAPMAP2987
Genomic Variants (DGV)GUK1 [DGVbeta]
DECIPHERGUK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGUK1 
Mutations
ICGC Data PortalGUK1 
TCGA Data PortalGUK1 
Broad Tumor PortalGUK1
OASIS PortalGUK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGUK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGUK1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GUK1
DgiDB (Drug Gene Interaction Database)GUK1
DoCM (Curated mutations)GUK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GUK1 (select a term)
intoGenGUK1
Cancer3DGUK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM139270   
Orphanet
MedgenGUK1
Genetic Testing Registry GUK1
NextProtQ16774 [Medical]
TSGene2987
GENETestsGUK1
Target ValidationGUK1
Huge Navigator GUK1 [HugePedia]
snp3D : Map Gene to Disease2987
BioCentury BCIQGUK1
ClinGenGUK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2987
Chemical/Pharm GKB GenePA29072
Clinical trialGUK1
Miscellaneous
canSAR (ICR)GUK1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGUK1
EVEXGUK1
GoPubMedGUK1
iHOPGUK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:10:54 CEST 2017

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