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

Gene ID: 92745, updated on 22-Sep-2022

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; AllianceGenome:HGNC:18070
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
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Genomic context

See SLC38A5 in Genome Data Viewer
Location:
Xp11.23
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48458544..48470260, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47867546..47879266, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48316927..48328648, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SSX family pseudogene 7 Neighboring gene ornithine aminotransferase pseudogene Neighboring gene uncharacterized LOC124905185 Neighboring gene FtsJ RNA 2'-O-methyltransferase 1 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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
enables L-amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables L-asparagine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables L-glutamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables L-glutamine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables L-glutamine transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables L-glutamine, sodium:proton antiporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables L-histidine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables L-histidine transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables L-serine transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables alanine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
enables glycine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables glycine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables neutral amino acid, sodium:proton antiporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables serine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in L-alanine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in L-glutamine import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in L-histidine transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in L-histidine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in L-histidine transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in L-serine import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in L-serine transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in amino acid export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in amino acid import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in amino acid transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in amino acid transport TAS
Traceable Author Statement
more info
 
involved_in asparagine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in asparagine transport IEA
Inferred from Electronic Annotation
more info
 
involved_in glutamine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in glutamine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glutamine transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glycine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in glycine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neutral amino acid transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in serine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in serine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in 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)

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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, Q96PQ4
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006724569.4XP_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
  2. XM_005272695.5XP_005272752.3  sodium-coupled neutral amino acid transporter 5 isoform X2

  3. XM_005272694.4XP_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
  4. XM_005272697.3XP_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
  5. XM_017029960.2XP_016885449.1  sodium-coupled neutral amino acid transporter 5 isoform X5

  6. XM_017029961.3XP_016885450.1  sodium-coupled neutral amino acid transporter 5 isoform X6

    UniProtKB/Swiss-Prot
    Q8WUX1, Q96PQ4
    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
  7. XM_005272698.6XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    47867546..47879266 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)