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    SLC19A2 solute carrier family 19 member 2 [ Homo sapiens (human) ]

    Gene ID: 10560, updated on 16-Feb-2017
    Official Symbol
    SLC19A2provided by HGNC
    Official Full Name
    solute carrier family 19 member 2provided by HGNC
    Primary source
    HGNC:HGNC:10938
    See related
    Ensembl:ENSG00000117479 MIM:603941; Vega:OTTHUMG00000035452
    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
    TC1; THT1; TRMA; THMD1; THTR1
    Summary
    This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
    Orthologs
    Location:
    1q24.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (169463909..169485970, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169433147..169455208, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371605 Neighboring gene basic leucine zipper nuclear factor 1 Neighboring gene coiled-coil domain containing 181 Neighboring gene coagulation factor V Neighboring gene selectin P

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    NHGRI GWA Catalog
    Genetics of venous thrombosis: insights from a new genome wide association study.
    NHGRI GWA Catalog
    • 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, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • 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
    folic acid transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    thiamine transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    thiamine uptake transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thiamine uptake transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    folic acid transport IEA
    Inferred from Electronic Annotation
    more info
     
    thiamine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    thiamine transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    thiamine-containing compound 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    thiamine transporter 1
    Names
    high affinity thiamine transporter
    reduced folate carrier protein (RFC) like
    solute carrier family 19 (thiamine transporter), member 2
    thTr-1

    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_008255.1 RefSeqGene

      Range
      5001..27062
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001319667.1NP_001306596.1  thiamine transporter 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AF135488, BU608154, DB150382
      Consensus CDS
      CCDS81398.1
      UniProtKB/Swiss-Prot
      O60779
      UniProtKB/TrEMBL
      A0A024R8Y5
      Related
      ENSP00000356778, OTTHUMP00000033498, ENST00000367804, OTTHUMT00000086107
      Conserved Domains (1) summary
      pfam01770
      Location:49257
      Folate_carrier; Reduced folate carrier
    2. NM_006996.2NP_008927.1  thiamine transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_008927.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF153330, AJ237724, BU608154
      Consensus CDS
      CCDS1280.1
      UniProtKB/Swiss-Prot
      O60779
      UniProtKB/TrEMBL
      A0A024R928
      Related
      ENSP00000236137, OTTHUMP00000033497, ENST00000236137, OTTHUMT00000086106
      Conserved Domains (1) summary
      pfam01770
      Location:28458
      Folate_carrier; Reduced folate carrier

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      169463909..169485970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      170855181..170877241 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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