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

Gene ID: 3758, updated on 26-Jul-2021

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
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
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Genomic context

See KCNJ1 in Genome Data Viewer
Location:
11q24.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (128838020..128867296, complement)
105.20201022 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 Fli-1 proto-oncogene, ETS transcription factor Neighboring gene smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNA Neighboring gene uncharacterized LOC107984409 Neighboring gene KCNJ5 antisense RNA 1 Neighboring gene potassium inwardly rectifying channel subfamily J member 5 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

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
PubMed 
enables inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in excretion TAS
Traceable Author Statement
more info
PubMed 
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of 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
 
part_of voltage-gated potassium channel complex TAS
Traceable Author Statement
more info
PubMed 

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)

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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
    5001..34360
    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
    P48048
    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
    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
    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
    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
    Related
    ENSP00000316233.3, ENST00000324036.7
    Conserved Domains (1) summary
    pfam01007
    Location:24352
    IRK; Inward rectifier potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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