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    KCNJ1 potassium inwardly rectifying channel subfamily J member 1 [ Homo sapiens (human) ]

    Gene ID: 3758, updated on 18-Nov-2024

    Summary

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    Official Symbol
    KCNJ1provided by HGNC
    Official Full Name
    potassium inwardly rectifying channel subfamily J member 1provided by HGNC
    Primary source
    HGNC:HGNC:6255
    See related
    Ensembl:ENSG00000151704 MIM:600359; AllianceGenome:HGNC:6255
    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
    ROMK; ROMK1; KIR1.1
    Summary
    Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward kidney (RPKM 75.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNJ1 in Genome Data Viewer
    Location:
    11q24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (128838020..128867296, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (128870511..128899787, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (128707915..128737191, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4058 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128563455-128564187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4062 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128570339-128571538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4063 Neighboring gene Fli-1 proto-oncogene, ETS transcription factor Neighboring gene NANOG hESC enhancer GRCh37_chr11:128585502-128586027 Neighboring gene smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5733 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:128587835-128588354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128596161-128596660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5738 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128603944-128604489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128627636-128628136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128628137-128628637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128646623-128647228 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:128654003-128654550 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:128654551-128655097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5741 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128689257-128689763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5743 Neighboring gene uncharacterized LOC107984409 Neighboring gene Sharpr-MPRA regulatory region 11395 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128740730-128741492 Neighboring gene NANOG hESC enhancer GRCh37_chr11:128741942-128742537 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:128771525-128772283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4065 Neighboring gene KCNJ5 antisense RNA 1 Neighboring gene potassium inwardly rectifying channel subfamily J member 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128796283-128797283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128808070-128808570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128808571-128809071 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128810609-128811109 Neighboring gene tumor protein p53 regulated apoptosis inducing protein 1

    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 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. Solubilization, purification, and functional reconstitution of human ROMK potassium channel in copolymer styrene-maleic acid (SMA) nanodiscs. Krajewska M, et al. Biochim Biophys Acta Biomembr, 2021 Apr 1. PMID 33444624
    2. Isolation and chromosomal localization of a human ATP-regulated potassium channel. Krishnan SN, et al. Hum Genet, 1995 Aug. PMID 7635463
    3. Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel. Shuck ME, et al. J Biol Chem, 1994 Sep 30. PMID 7929082
    4. Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA. Yano H, et al. Mol Pharmacol, 1994 May. PMID 8190102
    5. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Simon DB, et al. Nat Genet, 1996 Oct. PMID 8841184

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma.
      Title: Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma.
    2. Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2.
      Title: Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2.
    3. Solubilization, purification, and functional reconstitution of human ROMK potassium channel in copolymer styrene-maleic acid (SMA) nanodiscs.
      Title: Solubilization, purification, and functional reconstitution of human ROMK potassium channel in copolymer styrene-maleic acid (SMA) nanodiscs.
    4. Single-Channel Properties of the ROMK-Pore-Forming Subunit of the Mitochondrial ATP-Sensitive Potassium Channel.
      Title: Single-Channel Properties of the ROMK-Pore-Forming Subunit of the Mitochondrial ATP-Sensitive Potassium Channel.
    5. endosomal trafficking factors CORVET and ESCRT suppress plasma membrane residence of the renal outer medullary potassium channel
      Title: The endosomal trafficking factors CORVET and ESCRT suppress plasma membrane residence of the renal outer medullary potassium channel (ROMK).
    6. We replicated the methods in a previous study to detect rare and potentially loss-of-function variants in SLC12A3, SLC12A1, and KCNJ1 reducing blood pressure in variant carriers as compared with noncarriers using whole exome sequencing data. Our study confirmed that SLC12A3, SLC12A1, and KCNJ1 are indeed genes protective of hypertension in the general population.
      Title: Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.
    7. The presence of ROMK protein was observed in the inner mitochondrial membrane fraction. Moreover, colocalization of the ROMK protein and a mitochondrial marker in the mitochondria of fibroblast cells was shown by immunofluorescence.
      Title: Evidence for a mitochondrial ATP-regulated potassium channel in human dermal fibroblasts.
    8. Data suggest underlying pathology for some patients with type II Bartter syndrome is linked to stability of ROMK1 in ERAD pathway; using a yeast expression system, cells can be rescued by wild-type (rat) ROMK1 but not by ROMK1 containing any one of four mutations found in (human) type II Bartter syndrome; mutant ROMKs are significantly less stable than wild-type ROMK. (ERAD = endoplasmic reticulum-associated degradation)
      Title: Endoplasmic reticulum-associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome.
    9. WNK4 is a substrate of SFKs and the association of c-Src and PTP-1D with WNK4 at Tyr(1092) and Tyr(1143) plays an important role in modulating the inhibitory effect of WNK4 on ROMK
      Title: Src-family protein tyrosine kinase phosphorylates WNK4 and modulates its inhibitory effect on KCNJ1 (ROMK).
    10. knockdown of KCNJ1 in HK-2 cells promoted cell proliferation. Collectively, these data highlight that KCNJ1, low-expressed in ccRCC and associated with poor prognosis, plays an important role in ccRCC cell growth and metastasis
      Title: KCNJ1 inhibits tumor proliferation and metastasis and is a prognostic factor in clear cell renal cell carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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

    Associated conditions

    Description Tests
    Bartter disease type 2
    MedGen: C1855849 OMIM: 241200 GeneReviews: Not available
    		Compare labs

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ATP-activated inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inward rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inward rectifier potassium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in potassium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of monoatomic ion channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ATP-sensitive inward rectifier potassium channel 1
    Names
    ATP-regulated potassium channel ROM-K
    inward rectifier K(+) channel Kir1.1
    inwardly rectifying K+ channel
    potassium channel, inwardly rectifying subfamily J member 1
    potassium voltage-gated channel subfamily J member 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_009379.1 RefSeqGene

      Range
      5078..34354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000220.6 → NP_000211.1  ATP-sensitive inward rectifier potassium channel 1 isoform a

      See identical proteins and their annotated locations for NP_000211.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as rom-k1) encodes the longest isoform (a).
      Source sequence(s)
      AK290797, AW611934, BC063109
      Consensus CDS
      CCDS8476.1
      UniProtKB/Swiss-Prot
      B2RMR4, P48048, Q6LD67
      UniProtKB/TrEMBL
      A8K432
      Related
      ENSP00000376432.2, ENST00000392664.2
      Conserved Domains (1) summary
      pfam01007
      Location:43 → 371
      IRK; Inward rectifier potassium channel

    2. NM_153764.3 → NP_722448.1  ATP-sensitive inward rectifier potassium channel 1 isoform b

      See identical proteins and their annotated locations for NP_722448.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as rom-k2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus than isoform a. Variants 2, 4 and 5 all encode isoform b but differ in their 5' UTRs.
      Source sequence(s)
      AW611934, BC063109, U03884, U12542
      Consensus CDS
      CCDS8477.1
      UniProtKB/TrEMBL
      A8K432
      Related
      ENSP00000376433.2, ENST00000392665.6
      Conserved Domains (1) summary
      pfam01007
      Location:24 → 352
      IRK; Inward rectifier potassium channel

    3. NM_153765.3 → NP_722449.3  ATP-sensitive inward rectifier potassium channel 1 isoform c

      See identical proteins and their annotated locations for NP_722449.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as rom-k3) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (c) is shorter and has a different N-terminus compared to isoform a.
      Source sequence(s)
      AW611934, U03884, U12542
      UniProtKB/TrEMBL
      A8K432
      Conserved Domains (1) summary
      pfam01007
      Location:41 → 369
      IRK; Inward rectifier potassium channel

    4. NM_153766.3 → NP_722450.1  ATP-sensitive inward rectifier potassium channel 1 isoform b

      See identical proteins and their annotated locations for NP_722450.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as rom-k4) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus than isoform a. Variants 2, 4 and 5 all encode isoform b but differ in their 5' UTRs.
      Source sequence(s)
      AW611934, BC063109, U03884, U12542
      Consensus CDS
      CCDS8477.1
      UniProtKB/TrEMBL
      A8K432
      Related
      ENSP00000376434.1, ENST00000392666.6
      Conserved Domains (1) summary
      pfam01007
      Location:24 → 352
      IRK; Inward rectifier potassium channel

    5. NM_153767.4 → NP_722451.1  ATP-sensitive inward rectifier potassium channel 1 isoform b

      See identical proteins and their annotated locations for NP_722451.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as rom-k5) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus than isoform a. Variants 2, 4 and 5 all encode isoform b but differ in their 5' UTRs.
      Source sequence(s)
      AW611934, BC063109, U03884, U12542
      Consensus CDS
      CCDS8477.1
      UniProtKB/TrEMBL
      A8K432
      Related
      ENSP00000316233.3, ENST00000324036.7
      Conserved Domains (1) summary
      pfam01007
      Location:24 → 352
      IRK; Inward rectifier potassium channel

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      128838020..128867296 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      128870511..128899787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48048.1 GenPept UniProtKB/Swiss-Prot:P48048

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