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SLC23A1 solute carrier family 23 member 1 [ Homo sapiens (human) ]

Gene ID: 9963, updated on 7-Jun-2020

Summary

Official Symbol
SLC23A1provided by HGNC
Official Full Name
solute carrier family 23 member 1provided by HGNC
Primary source
HGNC:HGNC:10974
See related
Ensembl:ENSG00000170482 MIM:603790
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
SVCT1; YSPL3; SLC23A2
Summary
The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Expression
Biased expression in small intestine (RPKM 24.6), kidney (RPKM 21.3) and 4 other tissues See more
Orthologs

Genomic context

See SLC23A1 in Genome Data Viewer
Location:
5q31.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (139367196..139384553, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138702885..138720632, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene matrin 3 Neighboring gene RNA, 5S ribosomal pseudogene 195 Neighboring gene RN7SK pseudogene 64 Neighboring gene poly(A) binding protein interacting protein 2 Neighboring gene marginal zone B and B1 cell specific protein Neighboring gene proline rich basic 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22361

Gene Ontology Provided by GOA

Process Evidence Code Pubs
L-ascorbic acid metabolic process TAS
Traceable Author Statement
more info
 
L-ascorbic acid transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
dehydroascorbic acid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
lung development IEA
Inferred from Electronic Annotation
more info
 
nucleobase transport TAS
Traceable Author Statement
more info
PubMed 
nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
response to toxic substance IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sodium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
transepithelial L-ascorbic acid transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basal plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome HDA PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intracellular organelle IDA
Inferred from Direct Assay
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
solute carrier family 23 member 1
Names
Na(+)/L-ascorbic acid transporter 1
hSVCT1
sodium-dependent vitamin C transporter-1
solute carrier family 23 (ascorbic acid transporter), member 1
solute carrier family 23 (nucleobase transporters), member 1
solute carrier family 23 (nucleobase transporters), member 2
yolk sac permease-like molecule 3

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.

mRNA and Protein(s)

  1. NM_005847.5NP_005838.3  solute carrier family 23 member 1 isoform a

    See identical proteins and their annotated locations for NP_005838.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the more predominant transcript and encodes the shorter isoform (a).
    Source sequence(s)
    AI478520, AJ250807, BC050261, DA385445
    Consensus CDS
    CCDS4212.1
    UniProtKB/Swiss-Prot
    Q9UHI7
    Related
    ENSP00000302701.4, ENST00000348729.8
    Conserved Domains (2) summary
    pfam00860
    Location:45476
    Xan_ur_permease; Permease family
    cl23746
    Location:28482
    HCO3_cotransp; HCO3- transporter family
  2. NM_152685.3NP_689898.2  solute carrier family 23 member 1 isoform b

    See identical proteins and their annotated locations for NP_689898.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an in-frame alternative donor splice site at one of the internal coding exons compared to transcript variant 1. This results in an isoform (b) with 4 additional aa compared to isoform a.
    Source sequence(s)
    AI478520, BC050261, DA385445
    Consensus CDS
    CCDS4213.1
    UniProtKB/Swiss-Prot
    Q9UHI7
    Related
    ENSP00000302851.5, ENST00000353963.7
    Conserved Domains (2) summary
    pfam00860
    Location:45480
    Xan_ur_permease; Permease family
    cl23746
    Location:28486
    HCO3_cotransp; HCO3- transporter family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    139367196..139384553 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543769.1XP_011542071.1  solute carrier family 23 member 1 isoform X7

    Conserved Domains (1) summary
    cl23746
    Location:65249
    HCO3_cotransp; HCO3- transporter family
  2. XM_011543766.1XP_011542068.1  solute carrier family 23 member 1 isoform X4

    Conserved Domains (2) summary
    pfam00860
    Location:81443
    Xan_ur_permease; Permease family
    cl23746
    Location:64449
    HCO3_cotransp; HCO3- transporter family
  3. XM_011543767.1XP_011542069.1  solute carrier family 23 member 1 isoform X5

    Conserved Domains (2) summary
    pfam00860
    Location:81411
    Xan_ur_permease; Permease family
    cl23746
    Location:64417
    HCO3_cotransp; HCO3- transporter family
  4. XM_006714741.2XP_006714804.2  solute carrier family 23 member 1 isoform X3

    Conserved Domains (2) summary
    pfam00860
    Location:81516
    Xan_ur_permease; Permease family
    cl23746
    Location:64522
    HCO3_cotransp; HCO3- transporter family
  5. XM_005272148.3XP_005272205.3  solute carrier family 23 member 1 isoform X1

    See identical proteins and their annotated locations for XP_005272205.3

    Conserved Domains (2) summary
    pfam00860
    Location:81516
    Xan_ur_permease; Permease family
    cl23746
    Location:64522
    HCO3_cotransp; HCO3- transporter family
  6. XM_005272149.4XP_005272206.3  solute carrier family 23 member 1 isoform X2

    Conserved Domains (2) summary
    pfam00860
    Location:81512
    Xan_ur_permease; Permease family
    cl23746
    Location:64518
    HCO3_cotransp; HCO3- transporter family
  7. XM_011543768.1XP_011542070.1  solute carrier family 23 member 1 isoform X6

    Conserved Domains (1) summary
    cl23746
    Location:51364
    HCO3_cotransp; HCO3- transporter family
  8. XM_011543765.2XP_011542067.1  solute carrier family 23 member 1 isoform X1

    See identical proteins and their annotated locations for XP_011542067.1

    Conserved Domains (2) summary
    pfam00860
    Location:81516
    Xan_ur_permease; Permease family
    cl23746
    Location:64522
    HCO3_cotransp; HCO3- transporter family
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