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

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: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (48458544..48470260, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (47867546..47879266, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (48316927..48328648, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SLC38A5 Modulates Ferroptosis to Overcome Gemcitabine Resistance in Pancreatic Cancer.
Title: SLC38A5 Modulates Ferroptosis to Overcome Gemcitabine Resistance in Pancreatic Cancer.
Amino acid transporter SLC38A5 is a tumor promoter and a novel therapeutic target for pancreatic cancer.
Title: Amino acid transporter SLC38A5 is a tumor promoter and a novel therapeutic target for pancreatic cancer.
SLC38A5 aggravates DC-mediated psoriasiform skin inflammation via potentiating lysosomal acidification.
Title: SLC38A5 aggravates DC-mediated psoriasiform skin inflammation via potentiating lysosomal acidification.
The SLC38A5/SNAT5 amino acid transporter: from pathophysiology to pro-cancer roles in the tumor microenvironment.
Title: The SLC38A5/SNAT5 amino acid transporter: from pathophysiology to pro-cancer roles in the tumor microenvironment.
Amino acid transporter SLC38A5 regulates developmental and pathological retinal angiogenesis.
Title: Amino acid transporter SLC38A5 regulates developmental and pathological retinal angiogenesis.
Expression and function of SLC38A5, an amino acid-coupled Na+/H+ exchanger, in triple-negative breast cancer and its relevance to macropinocytosis.
Title: Expression and function of SLC38A5, an amino acid-coupled Na+/H+ exchanger, in triple-negative breast cancer and its relevance to macropinocytosis.
Confirmed by mRNA and protein expression, the amino acid transporters SLC7A7 and SLC38A5 showed marked differences between controls and intrauterine growth restriction/pre-eclampsia and were regulated by both diseases. In contrast, ABCA1 may play an exclusive role in the development of pre-eclempsia.
Title: Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia.
A 50kb deletion at Xp11.23 including the two genes, SLC38A5 and FTSJ1 was found in 3 brothers with moderate to severe mental retardation.
Title: Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS6949 (e-PCR)
- UniSTS:150398

RH93254 (e-PCR)
- UniSTS:92286

G21700 (e-PCR)
- UniSTS:69027

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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
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	IMP Inferred from Mutant Phenotype more info	PubMed
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
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

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
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 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
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
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
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
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

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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

NG_021469.2 RefSeqGene

Range

4997..16713

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_033518.4 → NP_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

B3KT20, B5MDE6, B7WPJ9, Q6PIW9, Q8WUX1, Q8WYU2, Q96PQ4

Related

ENSP00000481291.1, ENST00000620913.5

Conserved Domains (1) summary

cl00456
Location:46 → 459

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

48458544..48470260 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724569.4 → XP_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:46 → 437

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_005272695.5 → XP_005272752.3 sodium-coupled neutral amino acid transporter 5 isoform X2
XM_005272694.4 → XP_005272751.2 sodium-coupled neutral amino acid transporter 5 isoform X1

Conserved Domains (2) summary

COG0814
Location:93 → 476

SdaC; Amino acid permease [Amino acid transport and metabolism]

cl00456
Location:93 → 484

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_005272697.3 → XP_005272754.2 sodium-coupled neutral amino acid transporter 5 isoform X3

Conserved Domains (2) summary

COG0814
Location:52 → 435

SdaC; Amino acid permease [Amino acid transport and metabolism]

cl00456
Location:52 → 443

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_017029960.2 → XP_016885449.1 sodium-coupled neutral amino acid transporter 5 isoform X5
XM_017029961.3 → XP_016885450.1 sodium-coupled neutral amino acid transporter 5 isoform X6

UniProtKB/Swiss-Prot

B3KT20, B5MDE6, B7WPJ9, Q6PIW9, Q8WUX1, Q8WYU2, Q96PQ4

Related

ENSP00000478807.1, ENST00000619100.4

Conserved Domains (1) summary

cl00456
Location:46 → 459

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
XM_005272698.6 → XP_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:46 → 437

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

47867546..47879266 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328122.1 → XP_054184097.1 sodium-coupled neutral amino acid transporter 5 isoform X4
XM_054328120.1 → XP_054184095.1 sodium-coupled neutral amino acid transporter 5 isoform X2
XM_054328119.1 → XP_054184094.1 sodium-coupled neutral amino acid transporter 5 isoform X1
XM_054328121.1 → XP_054184096.1 sodium-coupled neutral amino acid transporter 5 isoform X3
XM_054328124.1 → XP_054184099.1 sodium-coupled neutral amino acid transporter 5 isoform X5
XM_054328125.1 → XP_054184100.1 sodium-coupled neutral amino acid transporter 5 isoform X6

UniProtKB/Swiss-Prot

B3KT20, B5MDE6, B7WPJ9, Q6PIW9, Q8WUX1, Q8WYU2, Q96PQ4
XM_054328123.1 → XP_054184098.1 sodium-coupled neutral amino acid transporter 5 isoform X4