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

Gene ID: 80704, updated on 28-Nov-2021

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
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; 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
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Genomic context

See SLC19A3 in Genome Data Viewer
Location:
2q36.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (227683763..227718030, complement)
105.20201022 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 small cysteine and glycine repeat containing 5 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

Associated conditions

Description Tests
Biotin-responsive basal ganglia disease Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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 thiamine transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
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
PubMed 
Component Evidence Code Pubs
located_in integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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.

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
    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
    Related
    ENSP00000496701.1, ENST00000646591.1
    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
    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
    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
    Related
    ENSP00000495385.1, ENST00000644224.2
    Conserved Domains (1) summary
    pfam01770
    Location:10441
    Folate_carrier; Reduced folate carrier

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    227683763..227718030 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005032.1XP_016860521.1  thiamine transporter 2 isoform X3

  2. XM_011511933.1XP_011510235.1  thiamine transporter 2 isoform X5

    See identical proteins and their annotated locations for XP_011510235.1

    UniProtKB/Swiss-Prot
    Q9BZV2
    Conserved Domains (1) summary
    pfam01770
    Location:10441
    Folate_carrier; Reduced folate carrier
  3. XM_017005034.2XP_016860523.1  thiamine transporter 2 isoform X3

  4. XM_017005033.1XP_016860522.1  thiamine transporter 2 isoform X3

  5. XM_017005031.1XP_016860520.1  thiamine transporter 2 isoform X2

  6. XM_017005030.1XP_016860519.1  thiamine transporter 2 isoform X1

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