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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
  4. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
  5. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, 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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