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

    Gene ID: 84889, updated on 11-Apr-2024

    Summary

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    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

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    Location:
    Xq13.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (70925579..70931096, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (69359629..69365145, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70145429..70150946, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene testis expressed 11 Neighboring gene small nucleolar RNA, C/D box 3E Neighboring gene WASHC3 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:70150189-70150690 Neighboring gene ribosomal protein S23 pseudogene 8 Neighboring gene nuclear transport factor 2 pseudogene 7

    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. Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders. Nava C, et al. Amino Acids, 2015 Dec. PMID 26215737, Free PMC Article
    2. Activation of classical protein kinase C reduces the expression of human cationic amino acid transporter 3 (hCAT-3) in the plasma membrane. Rotmann A, et al. Biochem J, 2006 Apr 1. PMID 16332251, Free PMC Article
    3. Monovalent cation conductance in Xenopus laevis oocytes expressing hCAT-3. Gilles W, et al. Biochim Biophys Acta, 2005 Mar 1. PMID 15737334
    4. Human cationic amino acid transporter hCAT-3 is preferentially expressed in peripheral tissues. Vékony N, et al. Biochemistry, 2001 Oct 16. PMID 11591158
    5. Differential topochemistry of three cationic amino acid transporter proteins, hCAT1, hCAT2 and hCAT3, in the adult human brain. Jäger K, et al. Amino Acids, 2013 Feb. PMID 22870827

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14541, MGC20687

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-arginine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-arginine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-lysine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-lysine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-ornithine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-ornithine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 L-ornithine transmembrane 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

    1. NG_021370.1 RefSeqGene

      Range
      5030..10547
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      70925579..70931096 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442598.1 → XP_047298554.1  cationic amino acid transporter 3 isoform X1

      UniProtKB/Swiss-Prot
      D3DVU7, Q5JQR2, Q8N185, Q8NCA7, Q8WY07, Q96SZ7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      69359629..69365145 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WY07.1 GenPept UniProtKB/Swiss-Prot:Q8WY07

    Gene LinkOut

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

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