SLC7A3 solute carrier family 7 member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC7A3provided by HGNC
Official Full Name: solute carrier family 7 member 3provided by HGNC
Primary source: HGNC:HGNC:11061
See related: Ensembl:ENSG00000165349 MIM:300443; AllianceGenome:HGNC:11061
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: CAT3; ATRC3; CAT-3
Summary: This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010]
Expression: Biased expression in endometrium (RPKM 1.9), prostate (RPKM 1.2) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (70925579..70931096, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (69359629..69365145, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (70145429..70150946, 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?

rare hypomorphic variants of SLC7A3 exist in male individuals, SLC7A3 variants possibly contribute to the etiology of autism spectrum disorders in male subjects in association with other genetic factors
Title: Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
knockdown impaired AMPK-PPAR-alpha signaling and resulted in lipid accumulation under glucose starvation in liver cells
Title: Genetic ablation of solute carrier family 7a3a leads to hepatic steatosis in zebrafish during fasting.
CAT1, CAT2, and CAT3 localized in adult brains but with uneven distribution.
Title: Differential topochemistry of three cationic amino acid transporter proteins, hCAT1, hCAT2 and hCAT3, in the adult human brain.
is concluded that hCAT-3 is a passive transport system that conducts monovalent cations including L-Arg.
Title: Monovalent cation conductance in Xenopus laevis oocytes expressing hCAT-3.
It is concluded that similar to hCAT-1, hCAT-3 activity is decreased by PKC via reduction of transporter molecules in the plasma membrane.
Title: Activation of classical protein kinase C reduces the expression of human cationic amino acid transporter 3 (hCAT-3) in the plasma membrane.

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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

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

SHGC-154064 (e-PCR)
- UniSTS:185096

RH67945 (e-PCR)
- UniSTS:26255

RH103173 (e-PCR)
- UniSTS:97506

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-arginine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-lysine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-ornithine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables amino acid transmembrane transporter activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in L-arginine import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in L-arginine transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in L-lysine import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in L-ornithine import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in amino acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in amino acid transport	TAS Traceable Author Statement 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	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cationic amino acid transporter 3

Names: solute carrier family 7 (cationic amino acid transporter, y+ system), member 3

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_021370.1 RefSeqGene

Range

5030..10547

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001048164.3 → NP_001041629.1 cationic amino acid transporter 3

See identical proteins and their annotated locations for NP_001041629.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK075014, BC033816

Consensus CDS

CCDS14404.1

UniProtKB/Swiss-Prot

D3DVU7, Q5JQR2, Q8N185, Q8NCA7, Q8WY07, Q96SZ7

Related

ENSP00000298085.4, ENST00000298085.4

Conserved Domains (2) summary

TIGR00906
Location:9 → 591

2A0303; cationic amino acid transport permease

pfam13906
Location:539 → 589

AA_permease_C; C-terminus of AA_permease
NM_032803.6 → NP_116192.4 cationic amino acid transporter 3

See identical proteins and their annotated locations for NP_116192.4

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK074865, AL627071, BC033816

Consensus CDS

CCDS14404.1

UniProtKB/Swiss-Prot

D3DVU7, Q5JQR2, Q8N185, Q8NCA7, Q8WY07, Q96SZ7

Related

ENSP00000363417.3, ENST00000374299.8

Conserved Domains (2) summary

TIGR00906
Location:9 → 591

2A0303; cationic amino acid transport permease

pfam13906
Location:539 → 589

AA_permease_C; C-terminus of AA_permease