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

Gene ID: 60482, updated on 1-Aug-2020

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

Genomic context

See SLC5A7 in Genome Data Viewer
Location:
2q12.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (107986524..108014497)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (108602979..108630663)

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

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 Annotation Release 109.20200522

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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