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

    Gene ID: 3758, updated on 7-Sep-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNJ1 in Genome Data Viewer
    Location:
    11q24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (128838020..128867296, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (128870511..128899787, complement)
    105.20220307 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 CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128563455-128564187 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128570339-128571538 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 NANOG-H3K27ac hESC enhancer GRCh37_chr11:128587835-128588354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128596161-128596660 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128603944-128604489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128627636-128628136 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128689257-128689763 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 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 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

    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

    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
    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 
    Process Evidence Code Pubs
    involved_in potassium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    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_000220.6NP_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:43371
      IRK; Inward rectifier potassium channel
    2. NM_153764.3NP_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/Swiss-Prot
      P48048
      UniProtKB/TrEMBL
      A0A024R3K6, A8K432
      Related
      ENSP00000376433.2, ENST00000392665.6
      Conserved Domains (1) summary
      pfam01007
      Location:24352
      IRK; Inward rectifier potassium channel
    3. NM_153765.3NP_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/Swiss-Prot
      P48048
      UniProtKB/TrEMBL
      A8K432
      Conserved Domains (1) summary
      pfam01007
      Location:41369
      IRK; Inward rectifier potassium channel
    4. NM_153766.3NP_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/Swiss-Prot
      P48048
      UniProtKB/TrEMBL
      A0A024R3K6, A8K432
      Related
      ENSP00000376434.1, ENST00000392666.6
      Conserved Domains (1) summary
      pfam01007
      Location:24352
      IRK; Inward rectifier potassium channel
    5. NM_153767.4NP_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/Swiss-Prot
      P48048
      UniProtKB/TrEMBL
      A0A024R3K6, A8K432
      Related
      ENSP00000316233.3, ENST00000324036.7
      Conserved Domains (1) summary
      pfam01007
      Location:24352
      IRK; Inward rectifier potassium channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    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)