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SLC7A13 solute carrier family 7 member 13 [ Homo sapiens (human) ]

Gene ID: 157724, updated on 5-Mar-2024

Summary

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Official Symbol
SLC7A13provided by HGNC
Official Full Name
solute carrier family 7 member 13provided by HGNC
Primary source
HGNC:HGNC:23092
See related
Ensembl:ENSG00000164893 MIM:617256; AllianceGenome:HGNC:23092
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
AGT1; XAT2; AGT-1
Summary
Predicted to enable L-amino acid transmembrane transporter activity. Predicted to be involved in L-cystine transport; L-glutamate transmembrane transport; and aspartate transmembrane transport. Predicted to be integral component of membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward kidney (RPKM 11.0) See more
Orthologs
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Genomic context

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Location:
8q21.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (86214063..86230381, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (87334166..87350490, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (87226292..87242610, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V0 subunit d2 Neighboring gene NANOG hESC enhancer GRCh37_chr8:87142684-87143185 Neighboring gene NANOG hESC enhancer GRCh37_chr8:87146313-87146865 Neighboring gene uncharacterized LOC105375623 Neighboring gene HNF4 motif-containing MPRA enhancer 29 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19341 Neighboring gene WWP1 antisense RNA 1 Neighboring gene WW domain containing E3 ubiquitin protein ligase 1 Neighboring gene regulator of microtubule dynamics 1 Neighboring gene N-terminal asparagine amidase pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells. Profilo E, et al. Biochim Biophys Acta Mol Basis Dis, 2017 Jun. PMID 28235644
  2. Identification of a novel Na+-independent acidic amino acid transporter with structural similarity to the member of a heterodimeric amino acid transporter family associated with unknown heavy chains. Matsuo H, et al. J Biol Chem, 2002 Jun 7. PMID 11907033
  3. Homologues of amino acid permeases: cloning and tissue expression of XAT1 and XAT2. Blondeau JP. Gene, 2002 Mar 20. PMID 11943479
  4. Mig-6 controls EGFR trafficking and suppresses gliomagenesis. Ying H, et al. Proc Natl Acad Sci U S A, 2010 Apr 13. PMID 20351267, Free PMC Article
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. data suggest that the cellular energetic deficit due to AGC1 impairment is associated with inappropriate aspartate levels to support neuronal proliferation when glutamine is not used as metabolic substrate
    Title: Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC150476, MGC150477

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
  
enables antiporter activity IEA
Inferred from Electronic Annotation
more info
  
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in L-cystine transport IEA
Inferred from Electronic Annotation
more info
  
involved_in L-glutamate transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in amino acid transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in aspartate transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
solute carrier family 7 member 13
Names
X-amino acid transporter 2
amino acid transporter XAT2
sodium-independent aspartate/glutamate transporter 1
solute carrier family 7 (anionic amino acid transporter), member 13
solute carrier family 7, (cationic amino acid transporter, y+ system) member 13

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.

mRNA and Protein(s)

  1. NM_138817.3 → NP_620172.2  solute carrier family 7 member 13

    See identical proteins and their annotated locations for NP_620172.2

    Status: VALIDATED

    Source sequence(s)
    AC084128, AJ417661, AK055815
    Consensus CDS
    CCDS34917.1
    UniProtKB/Swiss-Prot
    Q05C37, Q08AH9, Q8TCU3, Q96N84
    Related
    ENSP00000297524.3, ENST00000297524.8
    Conserved Domains (1) summary
    pfam13520
    Location:16 → 398
    AA_permease_2; Amino acid permease

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    86214063..86230381 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516867.3 → XP_011515169.1  solute carrier family 7 member 13 isoform X1

    Conserved Domains (1) summary
    pfam13520
    Location:16 → 389
    AA_permease_2; Amino acid permease

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    87334166..87350490 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359845.1 → XP_054215820.1  solute carrier family 7 member 13 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TCU3.1 GenPept UniProtKB/Swiss-Prot:Q8TCU3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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