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    SLC36A3 solute carrier family 36 member 3 [ Homo sapiens (human) ]

    Gene ID: 285641, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC36A3provided by HGNC
    Official Full Name
    solute carrier family 36 member 3provided by HGNC
    Primary source
    HGNC:HGNC:19659
    See related
    Ensembl:ENSG00000186334 MIM:608332; AllianceGenome:HGNC:19659
    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
    PAT3; TRAMD2; tramdorin2
    Summary
    Predicted to enable amino acid transmembrane transporter activity. Predicted to be involved in carboxylic acid transport and proton transmembrane transport. Predicted to be located in membrane. Predicted to be active in vacuolar membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 4.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC36A3 in Genome Data Viewer
    Location:
    5q33.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (151276358..151303766, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151815323..151842709, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150655919..150683327, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23455 Neighboring gene ganglioside GM2 activator Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23456 Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 5 Neighboring gene solute carrier family 36 member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150726633-150727546 Neighboring gene uncharacterized LOC105378234 Neighboring gene solute carrier family 36 member 1 Neighboring gene mediator complex subunit 13 pseudogene

    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. Mechanisms of lysophosphatidic acid (LPA) mediated stimulation of intestinal apical Cl-/OH- exchange. Singla A, et al. Am J Physiol Gastrointest Liver Physiol, 2010 Feb. PMID 19910524, Free PMC Article
    2. A cluster of proton/amino acid transporter genes in the human and mouse genomes. Boll M, et al. Genomics, 2003 Jul. PMID 12809675
    3. Organization and expression of the SLC36 cluster of amino acid transporter genes. Bermingham JR Jr, et al. Mamm Genome, 2004 Feb. PMID 15058382
    4. Evolutionary origin of amino acid transporter families SLC32, SLC36 and SLC38 and physiological, pathological and therapeutic aspects. Schiöth HB, et al. Mol Aspects Med, 2013 Apr-Jun. PMID 23506890
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. lysophosphatidic acid stimulates apical Cl(-)/OH(-) exchange activity and surface levels of SLC36A3 and SLC26A6 in intestinal epithelial cells
      Title: Mechanisms of lysophosphatidic acid (LPA) mediated stimulation of intestinal apical Cl-/OH- exchange.
    2. PAT3 was isolated and identified, but its function is not yet known.
      Title: A cluster of proton/amino acid transporter genes in the human and mouse genomes.
    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

    Homology

    Clone Names

    • FLJ16658, MGC119638, MGC119639, MGC119641

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-alanine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-proline transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables amino acid:proton symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-alanine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proline transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proton transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in vacuolar membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    proton-coupled amino acid transporter 3
    Names
    proton/amino acid transporter 3
    solute carrier family 36 (proton/amino acid symporter), member 3
    tramdorin 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.

    mRNA and Protein(s)

    1. NM_001145017.2 → NP_001138489.1  proton-coupled amino acid transporter 3 isoform 1

      See identical proteins and their annotated locations for NP_001138489.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC008385, BC101092
      Consensus CDS
      CCDS47316.1
      UniProtKB/Swiss-Prot
      Q495N2
      Related
      ENSP00000366942.3, ENST00000377713.3
      Conserved Domains (1) summary
      cl00456
      Location:41 → 492
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    2. NM_181774.4 → NP_861439.3  proton-coupled amino acid transporter 3 isoform 2

      See identical proteins and their annotated locations for NP_861439.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter and has the identical N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC008385, BC101095
      Consensus CDS
      CCDS4314.1
      UniProtKB/Swiss-Prot
      Q495N2, Q495N3, Q6ZMU7, Q6ZRU4, Q7Z6B4
      Related
      ENSP00000334750.3, ENST00000335230.8
      Conserved Domains (1) summary
      cl00456
      Location:41 → 451
      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

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      151276358..151303766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537627.4 → XP_011535929.1  proton-coupled amino acid transporter 3 isoform X1

      Conserved Domains (1) summary
      cl00456
      Location:41 → 425
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    2. XM_011537631.3 → XP_011535933.1  proton-coupled amino acid transporter 3 isoform X2

      See identical proteins and their annotated locations for XP_011535933.1

      Conserved Domains (1) summary
      cl00456
      Location:13 → 336
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    3. XM_011537630.3 → XP_011535932.1  proton-coupled amino acid transporter 3 isoform X2

      See identical proteins and their annotated locations for XP_011535932.1

      Conserved Domains (1) summary
      cl00456
      Location:13 → 336
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    4. XM_011537633.2 → XP_011535935.1  proton-coupled amino acid transporter 3 isoform X3

      Conserved Domains (1) summary
      cl00456
      Location:42 → 288
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    5. XM_011537634.3 → XP_011535936.1  proton-coupled amino acid transporter 3 isoform X4

      Conserved Domains (1) summary
      cl00456
      Location:41 → 163
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      151815323..151842709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352441.1 → XP_054208416.1  proton-coupled amino acid transporter 3 isoform X1

    2. XM_054352443.1 → XP_054208418.1  proton-coupled amino acid transporter 3 isoform X2

    3. XM_054352442.1 → XP_054208417.1  proton-coupled amino acid transporter 3 isoform X2

    4. XM_054352444.1 → XP_054208419.1  proton-coupled amino acid transporter 3 isoform X3

    5. XM_054352445.1 → XP_054208420.1  proton-coupled amino acid transporter 3 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q495N2.2 GenPept UniProtKB/Swiss-Prot:Q495N2

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

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