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

Summary

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 amino acid transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward kidney (RPKM 11.0) See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (86214063..86230381, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (87334166..87350490, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (87226292..87242610, complement)

Chromosome 8 - NC_000008.11 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SLC7A13_3723 (e-PCR)
- UniSTS:462549

SHGC-172426 (e-PCR)
- UniSTS:184824

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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

86214063..86230381 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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