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

    Gene ID: 80704, updated on 23-Nov-2023

    Summary

    Official Symbol
    SLC19A3provided by HGNC
    Official Full Name
    solute carrier family 19 member 3provided by HGNC
    Primary source
    HGNC:HGNC:16266
    See related
    Ensembl:ENSG00000135917 MIM:606152; AllianceGenome:HGNC:16266
    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; hTHTR2; thTr-2
    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 cognitive disability, 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]
    Expression
    Biased expression in fat (RPKM 29.6), placenta (RPKM 8.5) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC19A3 in Genome Data Viewer
    Location:
    2q36.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (227683763..227718028, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (228166399..228200658, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (228548479..228582744, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 19 member 3 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:228531168-228531668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:228531669-228532169 Neighboring gene small cysteine and glycine repeat containing 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:228582275-228583161 Neighboring gene small cysteine and glycine repeat containing 6 Neighboring gene small cysteine and glycine repeat containing 7

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables thiamine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables thiamine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables thiamine transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in pyridoxine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pyridoxine transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in thiamine diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thiamine transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in thiamine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in thiamine transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in thiamine-containing compound metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    thiamine transporter 2
    Names
    solute carrier family 19 (thiamine transporter), member 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5002..39267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001371411.1NP_001358340.1  thiamine transporter 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC064853
      Consensus CDS
      CCDS2468.1
      UniProtKB/Swiss-Prot
      Q9BZV2
      UniProtKB/TrEMBL
      B2R674
      Related
      ENSP00000258403.3, ENST00000258403.8
      Conserved Domains (1) summary
      pfam01770
      Location:10441
      Folate_carrier; Reduced folate carrier
    2. NM_001371412.1NP_001358341.1  thiamine transporter 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC064853
      Consensus CDS
      CCDS2468.1
      UniProtKB/Swiss-Prot
      Q9BZV2
      UniProtKB/TrEMBL
      B2R674
      Conserved Domains (1) summary
      pfam01770
      Location:10441
      Folate_carrier; Reduced folate carrier
    3. NM_001371413.1NP_001358342.1  thiamine transporter 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC064853, AC093762
      UniProtKB/TrEMBL
      B7Z761
      Conserved Domains (1) summary
      pfam01770
      Location:47437
      Folate_carrier; Reduced folate carrier
    4. NM_001371414.1NP_001358343.1  thiamine transporter 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC064853
      UniProtKB/TrEMBL
      B7Z761
      Conserved Domains (1) summary
      pfam01770
      Location:47437
      Folate_carrier; Reduced folate carrier
    5. NM_025243.4NP_079519.1  thiamine transporter 2 isoform 1

      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
      UniProtKB/TrEMBL
      B2R674
      Related
      ENSP00000495385.1, ENST00000644224.2
      Conserved Domains (1) summary
      pfam01770
      Location:10441
      Folate_carrier; Reduced folate carrier

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      227683763..227718028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445927.1XP_047301883.1  thiamine transporter 2 isoform X1

      UniProtKB/TrEMBL
      A0A2R8YHG5, B2R674
      Related
      ENSP00000496701.1, ENST00000646591.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      228166399..228200658 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)