| Type | Description |
|---|---|
| Definition | solute carrier family 19 member 3 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:09:00 | pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates. | 33008889 |
| 2020-08-01 11:18:00 | In SLC25A19 and TPK1 defects, thiamine has also led to clinical stabilization in single cases. Moreover, thiamine supplementation leads to normal concentrations of free-thiamine in the CSF of SLC19A3 patients. [review] | 31095747 |
| 2019-02-16 12:18:00 | Three novel mutations were detected in six patients with Biotin-thiamine responsive basal ganglia disease | 30054086 |
| 2018-01-06 12:37:00 | two siblings who received a refined diagnosis of BTBGD following whole-genome sequencing. Both children inherited compound heterozygous mutations from unaffected parents; a missense single-nucleotide variant (p.G23V) in the first transmembrane domain of the protein, and a 4808-bp deletion in exon 1 encompassing the and minimal promoter region. | 28696212 |
| 2017-12-02 11:10:00 | Using aggregated exome sequencing data, we calculate the carrier frequency of mutations in SLC19A3 as 1 in 232 individuals in the general population, for an estimated prevalence of the disease of approximately 1 in 215,000 individuals. The disease is thus more frequent than previously recognized | 28402605 |
| Type | IDs |
|---|---|
| Synonymous | BBGD, THMD2, THTR2 |
| Gene |
UniProtKB-ID:
S19A3_HUMAN
UniprotKB:
Q9BZV2
UniParc:
UPI000004DAE9
EMBL:
BC032014,
AF283317,
AC064853,
AF271633
Ensembl:
ENSG00000135917
KO:
hsa:80704
|
| Nucleutide sequences |
EMBL-CDS:
AAX93157.1,
AAH32014.1,
AAG53879.1,
AAK69539.1
Ensembl_TRS:
ENST00000644224,
ENST00000258403
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000258403,
ENSP00000495385
RefSeq:
NP_001358341.1,
XP_016860521.1,
XP_016860522.1,
NP_001358342.1,
NP_001358343.1,
XP_016860519.1,
XP_016860523.1,
NP_001358340.1,
NP_079519.1,
XP_011510235.1,
XP_016860520.1
|
| Others |
UniRef100:
UniRef100_Q9BZV2
UniRef90:
UniRef90_Q9BZV2
UniRef50:
UniRef50_Q9BZV2
UniGene:
Hs.221597
CCDS:
CCDS2468.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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