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    SLC12A1 solute carrier family 12 member 1 [ Bos taurus (domestic cattle) ]

    Gene ID: 407161, updated on 4-Oct-2024

    Summary

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    Official Symbol
    SLC12A1provided by VGNC
    Official Full Name
    solute carrier family 12 member 1provided by VGNC
    Primary source
    VGNC:VGNC:34664
    See related
    Ensembl:ENSBTAG00000010145
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Bos taurus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
    Also known as
    BSC1
    Orthologs
    human mouse all
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    Genomic context

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    See SLC12A1 in Genome Data Viewer
    Location:
    chromosome: 10
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_09 current ARS-UCD2.0 (GCF_002263795.3) 10 NC_037337.1 (62094457..62182501, complement)

    Chromosome 10 - NC_037337.1Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA72 Neighboring gene deoxyuridine triphosphatase Neighboring gene cortexin 2 Neighboring gene myelin expression factor 2 Neighboring gene solute carrier family 24 member 5

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_037337.1 Chromosome 10 Reference ARS-UCD2.0 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A long-term study of the effects of SLC12A1 homozygous mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle. Sakamoto Y, et al. Anim Sci J, 2020 Jan-Dec. PMID 32671963
    2. Furosemide loading test in a case of homozygous solute carrier family 12, member 1 (SLC12A1) mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle. Hasegawa K, et al. Anim Sci J, 2017 Oct. PMID 28402032
    3. A whole-genome assembly of the domestic cow, Bos taurus. Zimin AV, et al. Genome Biol, 2009. PMID 19393038, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A long-term study of the effects of SLC12A1 homozygous mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle.
      Title: A long-term study of the effects of SLC12A1 homozygous mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle.
    2. SLC12A1 (g.62382825G>A, p.Pro372Leu) is a hypomorphic or loss-of-function mutation and the hydrallantois with this mutation shows incomplete penetrance in Japanese Black cattle.
      Title: Furosemide loading test in a case of homozygous solute carrier family 12, member 1 (SLC12A1) mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables sodium:potassium:chloride symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell volume homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in chloride ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in potassium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in potassium ion import across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in sodium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    solute carrier family 12 member 1
    Names
    apical Na(2Cl)K cotransporter
    solute carrier family 12 (sodium/potassium/chloride transporters), member 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2023_09

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

    Reference ARS-UCD2.0 Primary Assembly

    Genomic

    1. NC_037337.1 Reference ARS-UCD2.0 Primary Assembly

      Range
      62094457..62182501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005211900.4 → XP_005211957.2  solute carrier family 12 member 1 isoform X2

      UniProtKB/TrEMBL
      A0AAA9RWL3, A0AAA9TLI8
      Related
      ENSBTAP00000098075.1, ENSBTAT00000132561.1
      Conserved Domains (1) summary
      TIGR00930
      Location:104 → 1099
      2a30; K-Cl cotransporter

    2. XM_002690936.6 → XP_002690982.2  solute carrier family 12 member 1 isoform X3

      UniProtKB/TrEMBL
      A0AAA9RWL3, F1MS75
      Related
      ENSBTAP00000043868.4, ENSBTAT00000046583.5
      Conserved Domains (1) summary
      TIGR00930
      Location:104 → 1099
      2a30; K-Cl cotransporter

    3. XM_005211899.4 → XP_005211956.2  solute carrier family 12 member 1 isoform X1

      UniProtKB/TrEMBL
      A0AAA9RWL3
      Conserved Domains (1) summary
      TIGR00930
      Location:104 → 1131
      2a30; K-Cl cotransporter

    4. XM_015473209.3 → XP_015328695.2  solute carrier family 12 member 1 isoform X1

      UniProtKB/TrEMBL
      A0AAA9RWL3
      Conserved Domains (1) summary
      TIGR00930
      Location:104 → 1131
      2a30; K-Cl cotransporter
    Nucleotide Protein Strain
    Heading Accession and Version

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