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    SLC19A3 solute carrier family 19 (thiamine transporter), member 3 [ Homo sapiens (human) ]

    Gene ID: 80704, updated on 26-Jun-2015
    Official Symbol
    SLC19A3provided by HGNC
    Official Full Name
    solute carrier family 19 (thiamine transporter), member 3provided by HGNC
    Primary source
    HGNC:HGNC:16266
    See related
    Ensembl:ENSG00000135917; HPRD:07311; MIM:606152; Vega:OTTHUMG00000133185
    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
    BBGD; THMD2; THTR2
    Summary
    This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]
    Orthologs
    See SLC19A3 in Epigenomics, MapViewer
    Location:
    2q37
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (227685210..227718029, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (228549926..228582814, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 83 Neighboring gene spore coat protein SP96 Neighboring gene solute carrier family 19 (thiamine transporter), member 3 pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 121 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 8

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of solute carrier family 19, member 3 (SLC19A3) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
    • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
    • Vitamin B1 (thiamin) metabolism, organism-specific biosystem (from REACTOME)
      Vitamin B1 (thiamin) metabolism, organism-specific biosystemVitamin B1 (thiamin) is found naturally in certain foodstuffs such as green peas, spinach, liver, bananas, whole grains and legumes. Human diseases associated with thiamin deficiency include beriberi...
    • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
      Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
    • Vitamin digestion and absorption, conserved biosystem (from KEGG)
      Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    thiamine uptake transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    thiamine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    thiamine transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    thiamine-containing compound metabolic process TAS
    Traceable Author Statement
    more info
     
    vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    water-soluble vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    thiamine transporter 2
    Names
    thiamine transporter 2
    solute carrier family 19, member 3
    thTr-2

    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_016359.1 RefSeqGene

      Range
      5001..37820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025243.3NP_079519.1  thiamine transporter 2

      See identical proteins and their annotated locations for NP_079519.1

      Status: REVIEWED

      Source sequence(s)
      AC064853, AC093762, AF271633, AI056985
      Consensus CDS
      CCDS2468.1
      UniProtKB/Swiss-Prot
      Q9BZV2
      Related
      ENSP00000258403, OTTHUMP00000164241, ENST00000258403, OTTHUMT00000256894
      Conserved Domains (1) summary
      pfam01770
      Location:10441
      Folate_carrier; Reduced folate carrier

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

      Range
      227685210..227718029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511933.1XP_011510235.1  

      See identical proteins and their annotated locations for XP_011510235.1

      Conserved Domains (1) summary
      pfam01770
      Location:10441
      Folate_carrier; Reduced folate carrier
    2. XM_005246874.2XP_005246931.1  

      Conserved Domains (1) summary
      pfam01770
      Location:47437
      Folate_carrier; Reduced folate carrier
    3. XM_011511932.1XP_011510234.1  

      See identical proteins and their annotated locations for XP_011510234.1

      Conserved Domains (1) summary
      pfam01770
      Location:10441
      Folate_carrier; Reduced folate carrier
    4. XM_006712779.2XP_006712842.1  

      Conserved Domains (1) summary
      pfam01770
      Location:15446
      Folate_carrier; Reduced folate carrier
    5. XM_011511931.1XP_011510233.1  

      Conserved Domains (1) summary
      pfam01770
      Location:22453
      Folate_carrier; Reduced folate carrier

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      228556170..228588989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)