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SLC38A5 solute carrier family 38 member 5 [ Homo sapiens (human) ]

Gene ID: 92745, updated on 3-May-2020

Summary

Official Symbol
SLC38A5provided by HGNC
Official Full Name
solute carrier family 38 member 5provided by HGNC
Primary source
HGNC:HGNC:18070
See related
Ensembl:ENSG00000017483 MIM:300649
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
SN2; JM24; SNAT5; pp7194
Summary
The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Aug 2013]
Expression
Broad expression in pancreas (RPKM 19.9), bone marrow (RPKM 15.5) and 18 other tissues See more
Orthologs

Genomic context

See SLC38A5 in Genome Data Viewer
Location:
Xp11.23
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (48458544..48470260, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48316927..48328644, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SSX family pseudogene 7 Neighboring gene ornithine aminotransferase pseudogene Neighboring gene FtsJ RNA 2'-O-methyltransferase 1 Neighboring gene uncharacterized LOC101927635

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

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-09-26)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-09-26)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-asparagine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
L-glutamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-glutamine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
L-glutamine transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
L-histidine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
L-histidine transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
L-serine transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
alanine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
glycine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
serine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
L-alanine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
L-histidine transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-histidine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
L-histidine transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
L-serine transport ISS
Inferred from Sequence or Structural Similarity
more info
 
amino acid transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transport TAS
Traceable Author Statement
more info
 
asparagine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
glutamine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
glutamine transport ISS
Inferred from Sequence or Structural Similarity
more info
 
glycine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
serine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
sodium-coupled neutral amino acid transporter 5
Names
solute carrier family 38 (amino acid transporter), member 5
system N transporter 2
transport system N, protein 2

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_021469.2 RefSeqGene

    Range
    4997..16713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_033518.4NP_277053.2  sodium-coupled neutral amino acid transporter 5

    See identical proteins and their annotated locations for NP_277053.2

    Status: REVIEWED

    Source sequence(s)
    AF196972, AF276889, AW183216, BC027721, DA089769
    Consensus CDS
    CCDS14293.1
    UniProtKB/Swiss-Prot
    Q8WUX1
    UniProtKB/TrEMBL
    A0A024QYY0
    Related
    ENSP00000481291.1, ENST00000620913.5
    Conserved Domains (1) summary
    cl00456
    Location:46459
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    48458544..48470260 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272695.4XP_005272752.3  sodium-coupled neutral amino acid transporter 5 isoform X2

  2. XM_005272694.3XP_005272751.2  sodium-coupled neutral amino acid transporter 5 isoform X1

    Conserved Domains (2) summary
    COG0814
    Location:93476
    SdaC; Amino acid permease [Amino acid transport and metabolism]
    cl00456
    Location:93484
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. XM_005272697.2XP_005272754.2  sodium-coupled neutral amino acid transporter 5 isoform X3

    Conserved Domains (2) summary
    COG0814
    Location:52435
    SdaC; Amino acid permease [Amino acid transport and metabolism]
    cl00456
    Location:52443
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  4. XM_017029960.1XP_016885449.1  sodium-coupled neutral amino acid transporter 5 isoform X5

  5. XM_017029961.2XP_016885450.1  sodium-coupled neutral amino acid transporter 5 isoform X6

    UniProtKB/Swiss-Prot
    Q8WUX1
    UniProtKB/TrEMBL
    A0A024QYY0
    Related
    ENSP00000478807.1, ENST00000619100.4
    Conserved Domains (1) summary
    cl00456
    Location:46459
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  6. XM_005272698.5XP_005272755.2  sodium-coupled neutral amino acid transporter 5 isoform X4

    See identical proteins and their annotated locations for XP_005272755.2

    Conserved Domains (1) summary
    cl00456
    Location:46437
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  7. XM_006724569.3XP_006724632.1  sodium-coupled neutral amino acid transporter 5 isoform X4

    See identical proteins and their annotated locations for XP_006724632.1

    Conserved Domains (1) summary
    cl00456
    Location:46437
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
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