Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UHMK1 (U2AF homology motif kinase 1)

Identity

Alias_namesU2AF homology motif (UHM) kinase 1
Alias_symbol (synonym)KIS
Kist
Other aliasKIST
P-CIP2
HGNC (Hugo) UHMK1
LocusID (NCBI) 127933
Atlas_Id 41071
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 162497174 and ends at 162529629 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		CITED2 (6q24.1) / UHMK1 (1q23.3)FLNA (Xq28) / UHMK1 (1q23.3)GOLM1 (9q21.33) / UHMK1 (1q23.3)
UHMK1 (1q23.3) / CAP1 (1p34.2)UHMK1 (1q23.3) / DDR2 (1q23.3)UHMK1 (1q23.3) / PPOX (1q23.3)
UHMK1 1q23.3 / PPOX 1q23.3

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)UHMK1   19683
Cards
Entrez_Gene (NCBI)UHMK1  127933  U2AF homology motif kinase 1
AliasesKIS; KIST; P-CIP2
GeneCards (Weizmann)UHMK1
Ensembl hg19 (Hinxton)ENSG00000152332 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152332 [Gene_View]  chr1:162497174-162529629 [Contig_View]  UHMK1 [Vega]
ICGC DataPortalENSG00000152332
TCGA cBioPortalUHMK1
AceView (NCBI)UHMK1
Genatlas (Paris)UHMK1
WikiGenes127933
SOURCE (Princeton)UHMK1
Genetics Home Reference (NIH)UHMK1
Genomic and cartography
GoldenPath hg38 (UCSC)UHMK1  -     chr1:162497174-162529629 +  1q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UHMK1  -     1q23.3   [Description]    (hg19-Feb_2009)
EnsemblUHMK1 - 1q23.3 [CytoView hg19]  UHMK1 - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBIUHMK1 [Mapview hg19]  UHMK1 [Mapview hg38]
OMIM608849   
Gene and transcription
Genbank (Entrez)AB384827 AJ536197 AK026668 AK058195 AK292369
RefSeq transcript (Entrez)NM_001184763 NM_144624 NM_175866
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UHMK1
Cluster EST : UnigeneHs.127310 [ NCBI ]
CGAP (NCI)Hs.127310
Alternative Splicing GalleryENSG00000152332
Gene ExpressionUHMK1 [ NCBI-GEO ]   UHMK1 [ EBI - ARRAY_EXPRESS ]   UHMK1 [ SEEK ]   UHMK1 [ MEM ]
Gene Expression Viewer (FireBrowse)UHMK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)127933
GTEX Portal (Tissue expression)UHMK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TAS1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TAS1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TAS1
Splice isoforms : SwissVarQ8TAS1
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ8TAS1
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_DOM (PS50011)    RRM (PS50102)   
Domains : Interpro (EBI)Kinase-like_dom    Nucleotide-bd_a/b_plait    Prot_kinase_dom    RRM_dom   
Domain families : Pfam (Sanger)Pkinase (PF00069)    RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam00069    pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  S_TKc (SM00220)  
Conserved Domain (NCBI)UHMK1
DMDM Disease mutations127933
Blocks (Seattle)UHMK1
SuperfamilyQ8TAS1
Human Protein AtlasENSG00000152332
Peptide AtlasQ8TAS1
HPRD12318
IPIIPI00163376   IPI00220575   IPI00975581   
Protein Interaction databases
DIP (DOE-UCLA)Q8TAS1
IntAct (EBI)Q8TAS1
FunCoupENSG00000152332
BioGRIDUHMK1
STRING (EMBL)UHMK1
ZODIACUHMK1
Ontologies - Pathways
QuickGOQ8TAS1
Ontology : AmiGOcommitment complex  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  Golgi apparatus  cell cycle arrest  poly-pyrimidine tract binding  nuclear speck  transferase activity  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  axon  pre-mRNA 3'-splice site binding  neuron projection development  dendrite cytoplasm  ribonucleoprotein granule  ribonucleoprotein complex binding  ribonucleoprotein complex binding  positive regulation of translational initiation  protein autophosphorylation  regulation of protein export from nucleus  U2-type prespliceosome  neuronal ribonucleoprotein granule  U2AF  
Ontology : EGO-EBIcommitment complex  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  Golgi apparatus  cell cycle arrest  poly-pyrimidine tract binding  nuclear speck  transferase activity  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  axon  pre-mRNA 3'-splice site binding  neuron projection development  dendrite cytoplasm  ribonucleoprotein granule  ribonucleoprotein complex binding  ribonucleoprotein complex binding  positive regulation of translational initiation  protein autophosphorylation  regulation of protein export from nucleus  U2-type prespliceosome  neuronal ribonucleoprotein granule  U2AF  
Pathways : BIOCARTAStathmin and breast cancer resistance to antimicrotubule agents [Genes]   
NDEx NetworkUHMK1
Atlas of Cancer Signalling NetworkUHMK1
Wikipedia pathwaysUHMK1
Orthology - Evolution
OrthoDB127933
GeneTree (enSembl)ENSG00000152332
Phylogenetic Trees/Animal Genes : TreeFamUHMK1
HOVERGENQ8TAS1
HOGENOMQ8TAS1
Homologs : HomoloGeneUHMK1
Homology/Alignments : Family Browser (UCSC)UHMK1
Gene fusions - Rearrangements
Fusion : MitelmanUHMK1/DDR2 [1q23.3/1q23.3]  
Fusion : MitelmanUHMK1/PPOX [1q23.3/1q23.3]  [t(1;1)(q23;q23)]  
Fusion: TCGAUHMK1 1q23.3 PPOX 1q23.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUHMK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UHMK1
dbVarUHMK1
ClinVarUHMK1
1000_GenomesUHMK1 
Exome Variant ServerUHMK1
ExAC (Exome Aggregation Consortium)UHMK1 (select the gene name)
Genetic variants : HAPMAP127933
Genomic Variants (DGV)UHMK1 [DGVbeta]
DECIPHERUHMK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUHMK1 
Mutations
ICGC Data PortalUHMK1 
TCGA Data PortalUHMK1 
Broad Tumor PortalUHMK1
OASIS PortalUHMK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUHMK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUHMK1
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 UHMK1
DgiDB (Drug Gene Interaction Database)UHMK1
DoCM (Curated mutations)UHMK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UHMK1 (select a term)
intoGenUHMK1
Cancer3DUHMK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608849   
Orphanet
MedgenUHMK1
Genetic Testing Registry UHMK1
NextProtQ8TAS1 [Medical]
TSGene127933
GENETestsUHMK1
Target ValidationUHMK1
Huge Navigator UHMK1 [HugePedia]
snp3D : Map Gene to Disease127933
BioCentury BCIQUHMK1
ClinGenUHMK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD127933
Chemical/Pharm GKB GenePA134974001
Clinical trialUHMK1
Miscellaneous
canSAR (ICR)UHMK1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUHMK1
EVEXUHMK1
GoPubMedUHMK1
iHOPUHMK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:18:21 CEST 2017
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