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    SLC5A7 solute carrier family 5 member 7 [ Homo sapiens (human) ]

    Gene ID: 60482, updated on 8-Jul-2021

    Summary

    Official Symbol
    SLC5A7provided by HGNC
    Official Full Name
    solute carrier family 5 member 7provided by HGNC
    Primary source
    HGNC:HGNC:14025
    See related
    Ensembl:ENSG00000115665 MIM:608761
    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
    CHT; CHT1; CMS20; HMN7A
    Summary
    This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC5A7 in Genome Data Viewer
    Location:
    2q12.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (107986524..108014497)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (108602980..108630450)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene 2q12.3 proximal recombination region Neighboring gene SRSF3 pseudogene 5 Neighboring gene long intergenic non-protein coding RNA 1593 Neighboring gene actin family pseudogene 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

    Clone Names

    • MGC126299, MGC126300

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables choline binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables choline transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables choline transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables choline:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables choline:sodium symporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acetylcholine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in acetylcholine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in choline transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neurotransmitter transport TAS
    Traceable Author Statement
    more info
     
    involved_in sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic transmission, cholinergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in perikaryon IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    high affinity choline transporter 1
    Names
    high affinity choline transporter; hemicholinium-3-sensitive choline transporter
    solute carrier family 5 (sodium/choline cotransporter), member 7

    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_042267.1 RefSeqGene

      Range
      5011..32481
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001305005.3NP_001291934.1  high affinity choline transporter 1 isoform a

      See identical proteins and their annotated locations for NP_001291934.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC009963, AK315280, DA714970
      Consensus CDS
      CCDS2074.1
      UniProtKB/Swiss-Prot
      Q9GZV3
      UniProtKB/TrEMBL
      B2RCU2
      Related
      ENSP00000387346.1, ENST00000409059.5
      Conserved Domains (1) summary
      cd11474
      Location:8495
      SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain
    2. NM_001305006.3NP_001291935.1  high affinity choline transporter 1 isoform b

      See identical proteins and their annotated locations for NP_001291935.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' end compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (b) with a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC009963, AK300801
      UniProtKB/TrEMBL
      B4DUU7
      Conserved Domains (1) summary
      cd11474
      Location:1390
      SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain
    3. NM_001305007.3NP_001291936.1  high affinity choline transporter 1 isoform c

      See identical proteins and their annotated locations for NP_001291936.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate internal splice junction compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (c) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC009963, BC111524, DA714970
      UniProtKB/TrEMBL
      Q2T9H3
      Conserved Domains (1) summary
      cd11474
      Location:1248
      SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain
    4. NM_021815.5NP_068587.1  high affinity choline transporter 1 isoform a

      See identical proteins and their annotated locations for NP_068587.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AC009963, BC111525, DA714970
      Consensus CDS
      CCDS2074.1
      UniProtKB/Swiss-Prot
      Q9GZV3
      Related
      ENSP00000264047.2, ENST00000264047.3
      Conserved Domains (1) summary
      cd11474
      Location:8495
      SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain

    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_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      107986524..108014497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004628.1XP_016860117.1  high affinity choline transporter 1 isoform X1

      Conserved Domains (1) summary
      cd11474
      Location:8457
      SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain
    2. XM_017004629.2XP_016860118.1  high affinity choline transporter 1 isoform X3

      Conserved Domains (1) summary
      cd11474
      Location:1390
      SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain
    3. XM_011511580.2XP_011509882.1  high affinity choline transporter 1 isoform X2

      Conserved Domains (1) summary
      cd11474
      Location:14411
      SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain
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