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KCNJ1 (potassium voltage-gated channel subfamily J member 1)

Identity

Alias_namespotassium inwardly-rectifying channel
Alias_symbol (synonym)Kir1.1
ROMK1
Other aliasKIR1.1
ROMK
HGNC (Hugo) KCNJ1
LocusID (NCBI) 3758
Atlas_Id 55275
Location 11q24.3  [Link to chromosome band 11q24]
Location_base_pair Starts at 128838014 and ends at 128842534 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)KCNJ1   6255
Cards
Entrez_Gene (NCBI)KCNJ1  3758  potassium voltage-gated channel subfamily J member 1
AliasesKIR1.1; ROMK; ROMK1
GeneCards (Weizmann)KCNJ1
Ensembl hg19 (Hinxton)ENSG00000151704 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151704 [Gene_View]  chr11:128838014-128842534 [Contig_View]  KCNJ1 [Vega]
ICGC DataPortalENSG00000151704
TCGA cBioPortalKCNJ1
AceView (NCBI)KCNJ1
Genatlas (Paris)KCNJ1
WikiGenes3758
SOURCE (Princeton)KCNJ1
Genetics Home Reference (NIH)KCNJ1
Genomic and cartography
GoldenPath hg38 (UCSC)KCNJ1  -     chr11:128838014-128842534 -  11q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNJ1  -     11q24.3   [Description]    (hg19-Feb_2009)
EnsemblKCNJ1 - 11q24.3 [CytoView hg19]  KCNJ1 - 11q24.3 [CytoView hg38]
Mapping of homologs : NCBIKCNJ1 [Mapview hg19]  KCNJ1 [Mapview hg38]
OMIM241200   600359   
Gene and transcription
Genbank (Entrez)AI795925 AK290797 AK308032 AK308033 AK314267
RefSeq transcript (Entrez)NM_000220 NM_153764 NM_153765 NM_153766 NM_153767
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNJ1
Cluster EST : UnigeneHs.527830 [ NCBI ]
CGAP (NCI)Hs.527830
Alternative Splicing GalleryENSG00000151704
Gene ExpressionKCNJ1 [ NCBI-GEO ]   KCNJ1 [ EBI - ARRAY_EXPRESS ]   KCNJ1 [ SEEK ]   KCNJ1 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNJ1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3758
GTEX Portal (Tissue expression)KCNJ1
Human Protein AtlasENSG00000151704-KCNJ1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48048   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48048  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48048
Splice isoforms : SwissVarP48048
PhosPhoSitePlusP48048
Domains : Interpro (EBI)Ig_E-set    K_chnl_inward-rec_Kir    K_chnl_inward-rec_Kir1.1    K_chnl_inward-rec_Kir_cyto   
Domain families : Pfam (Sanger)IRK (PF01007)   
Domain families : Pfam (NCBI)pfam01007   
Conserved Domain (NCBI)KCNJ1
DMDM Disease mutations3758
Blocks (Seattle)KCNJ1
SuperfamilyP48048
Human Protein Atlas [tissue]ENSG00000151704-KCNJ1 [tissue]
Peptide AtlasP48048
HPRD08981
IPIIPI00007612   IPI00216258   IPI00216259   IPI00974579   
Protein Interaction databases
DIP (DOE-UCLA)P48048
IntAct (EBI)P48048
FunCoupENSG00000151704
BioGRIDKCNJ1
STRING (EMBL)KCNJ1
ZODIACKCNJ1
Ontologies - Pathways
QuickGOP48048
Ontology : AmiGOinward rectifier potassium channel activity  ATP binding  phosphatidylinositol-4,5-bisphosphate binding  plasma membrane  potassium ion transport  excretion  voltage-gated potassium channel complex  potassium ion import  ATP-activated inward rectifier potassium channel activity  regulation of ion transmembrane transport  
Ontology : EGO-EBIinward rectifier potassium channel activity  ATP binding  phosphatidylinositol-4,5-bisphosphate binding  plasma membrane  potassium ion transport  excretion  voltage-gated potassium channel complex  potassium ion import  ATP-activated inward rectifier potassium channel activity  regulation of ion transmembrane transport  
Pathways : KEGGAldosterone-regulated sodium reabsorption    Gastric acid secretion   
NDEx NetworkKCNJ1
Atlas of Cancer Signalling NetworkKCNJ1
Wikipedia pathwaysKCNJ1
Orthology - Evolution
OrthoDB3758
GeneTree (enSembl)ENSG00000151704
Phylogenetic Trees/Animal Genes : TreeFamKCNJ1
HOVERGENP48048
HOGENOMP48048
Homologs : HomoloGeneKCNJ1
Homology/Alignments : Family Browser (UCSC)KCNJ1
Gene fusions - Rearrangements
Tumor Fusion PortalKCNJ1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNJ1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNJ1
dbVarKCNJ1
ClinVarKCNJ1
1000_GenomesKCNJ1 
Exome Variant ServerKCNJ1
ExAC (Exome Aggregation Consortium)ENSG00000151704
GNOMAD BrowserENSG00000151704
Genetic variants : HAPMAP3758
Genomic Variants (DGV)KCNJ1 [DGVbeta]
DECIPHERKCNJ1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNJ1 
Mutations
ICGC Data PortalKCNJ1 
TCGA Data PortalKCNJ1 
Broad Tumor PortalKCNJ1
OASIS PortalKCNJ1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNJ1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNJ1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KCNJ1
DgiDB (Drug Gene Interaction Database)KCNJ1
DoCM (Curated mutations)KCNJ1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNJ1 (select a term)
intoGenKCNJ1
Cancer3DKCNJ1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM241200    600359   
Orphanet12437   
DisGeNETKCNJ1
MedgenKCNJ1
Genetic Testing Registry KCNJ1
NextProtP48048 [Medical]
TSGene3758
GENETestsKCNJ1
Target ValidationKCNJ1
Huge Navigator KCNJ1 [HugePedia]
snp3D : Map Gene to Disease3758
BioCentury BCIQKCNJ1
ClinGenKCNJ1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3758
Chemical/Pharm GKB GenePA213
Clinical trialKCNJ1
Miscellaneous
canSAR (ICR)KCNJ1 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNJ1
EVEXKCNJ1
GoPubMedKCNJ1
iHOPKCNJ1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:18:34 CET 2017

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