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

Gene ID: 285641, updated on 5-Mar-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 amino acid transport and proton transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 4.0) See more
Orthologs
mouse all
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Genomic context

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Location:
5q33.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (151276358..151303766, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151815323..151842709, complement)
105.20220307 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)

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

  • 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_2023_10

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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