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SLC5A4 solute carrier family 5 member 4 [ Homo sapiens (human) ]

Gene ID: 6527, updated on 22-Aug-2020

Summary

Official Symbol
SLC5A4provided by HGNC
Official Full Name
solute carrier family 5 member 4provided by HGNC
Primary source
HGNC:HGNC:11039
See related
Ensembl:ENSG00000100191 MIM:618633
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SAAT1; SGLT3; DJ90G24.4
Expression
Biased expression in small intestine (RPKM 7.8), duodenum (RPKM 6.8) and 3 other tissues See more
Orthologs

Genomic context

See SLC5A4 in Genome Data Viewer
Location:
22q12.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (32218423..32355057, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32614463..32651318, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene chromosome 22 open reading frame 42 Neighboring gene SLC5A4 antisense RNA 1 Neighboring gene ret finger protein like 2 Neighboring gene CPSF1 pseudogene 1 Neighboring gene uncharacterized LOC107985561 Neighboring gene ret finger protein like 3 Neighboring gene RFPL3 antisense Neighboring gene immunoglobulin lambda constant/OR22-2 (pseudogene) Neighboring gene uncharacterized LOC339666

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glucose:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
glucose transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sodium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
solute carrier family 5 member 4
Names
Na(+)/glucose cotransporter 3
low affinity sodium-glucose cotransporter
sodium transporter
sodium/glucose cotransporter 3
solute carrier family 5 (glucose activated ion channel), member 4
solute carrier family 5 (low affinity glucose cotransporter), member 4
solute carrier family 5 (neutral amino acid transporters, system A), member 4

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_014227.3NP_055042.1  solute carrier family 5 member 4

    See identical proteins and their annotated locations for NP_055042.1

    Status: VALIDATED

    Source sequence(s)
    AJ133127, AL008723
    Consensus CDS
    CCDS13903.1
    UniProtKB/Swiss-Prot
    Q9NY91
    Related
    ENSP00000266086.3, ENST00000266086.5
    Conserved Domains (1) summary
    cl00456
    Location:27659
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    32218423..32355057 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028920.1XP_016884409.1  solute carrier family 5 member 4 isoform X1

  2. XM_006724308.3XP_006724371.1  solute carrier family 5 member 4 isoform X2

    See identical proteins and their annotated locations for XP_006724371.1

    Conserved Domains (1) summary
    cl00456
    Location:1613
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. XM_011530342.2XP_011528644.1  solute carrier family 5 member 4 isoform X2

    See identical proteins and their annotated locations for XP_011528644.1

    Conserved Domains (1) summary
    cl00456
    Location:1613
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  4. XM_011530343.2XP_011528645.1  solute carrier family 5 member 4 isoform X2

    See identical proteins and their annotated locations for XP_011528645.1

    Conserved Domains (1) summary
    cl00456
    Location:1613
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  5. XM_011530344.2XP_011528646.1  solute carrier family 5 member 4 isoform X3

    Conserved Domains (1) summary
    cl00456
    Location:1590
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
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