SLC25A19 - solute carrier family 25 member 19 Gene

Also Known as DNC; TPC; MUP1; MCPHA; THMD3; THMD4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 60386

About SLC25A19

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,272,992-75,289,433 (from NCBI)

This gene has 15 transcripts (splice variants), 201 orthologues, 49 paralogues and is associated with 5 phenotypes. Broad expression in testis (RPKM 8.3), lymph node (RPKM 4.5) and 24 other tissues.

Summary

This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a Metabolic Disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

SLC25A19 Products (3)

mRNA Protein Name
NM_001126121.2 NP_001119593.1 mitochondrial thiamine pyrophosphate carrier
NM_001126122.2 NP_001119594.1 mitochondrial thiamine pyrophosphate carrier
NM_021734.5 NP_068380.3 mitochondrial thiamine pyrophosphate carrier

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
NOT enables deoxynucleotide transmembrane transporter activity IDA
IDA: Inferred from direct assay
15539640 GOA
enables thiamine pyrophosphate transmembrane transporter activity IDA
IDA: Inferred from direct assay
17035501 GOA
Biological Process GO Annotation Evidence Références Source
NOT involved in deoxynucleotide transport IDA
IDA: Inferred from direct assay
15539640 GOA
involved in thiamine pyrophosphate transmembrane transport IDA
IDA: Inferred from direct assay
17035501 GOA
Cellular Component GO Annotation Evidence Références Source
located in mitochondrion IDA
IDA: Inferred from direct assay
15539640 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC25A19 Protein Structure

Mito_carr

Mito_carr: Mitochondrial carrier protein (16 - 108)

Mito_carr

Mito_carr: Mitochondrial carrier protein (117 - 204)

Mito_carr

Mito_carr: Mitochondrial carrier protein (213 - 310)

  • 0
  • 100
  • 200
  • 300
  • 320 a.a.
Protein Preferred Names Protein Names

mitochondrial thiamine pyrophosphate carrier

  • Deoxynucleotide carrier

Related Diseases

Diseases Alias
Microcephaly, Amish Type

  • Amish Lethal Microcephaly

  • MCPHA

  • Amish Microcephaly

  • Thiamine Metabolism Dysfunction Syndrome 3

  • Thmd3
Thiamine Metabolism Dysfunction Syndrome 4

  • Bilateral Striatal Degeneration And Progressive Polyneuropathy

  • THMD4

  • Striatal Necrosis, Bilateral, And Progressive Polyneuropathy

  • Progressive Polyneuropathy With Bilateral Striatal Necrosis

  • Thiamine Metabolism Dysfunction Syndrome 4, Bilateral Striatal Degeneration And Progressive Polyneuropathy Type

  • Striatal Necrosis, Bilateral And Progressive Polyneuropathy
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Dry Beriberi
Mitochondrial Complex I Deficiency, Nuclear Type 16

  • MC1DN16

  • Nuclear Type Mitochondrial Complex I Deficiency 16

  • Mitochondrial Complex 1 Deficiency, Nuclear Type 16
Polyneuropathy

  • Polyneuropathies
Wet Beriberi
Thiamine Deficiency Disease
Beriberi

  • Thiamine Deficiency

  • Vitamin B1 Deficiency

  • Aneurin Deficiency

  • Thiamine Vitamin Deficiency

  • Beriberi Nos

  • Beriberi Due To Vitamin B1 Deficiency

  • Beriberi Due To Thiamine Vitamin Deficiency

  • Kakkè
Wernicke Encephalopathy

  • Wernicke'S Encephalopathy

  • Wernicke'S Disease

  • Encephalopathy, Wernicke'S

  • Wernicke-Korsakoff Syndrome

  • Encephalopathy Due To Vitamin B1 Deficiency

  • Wernicke Disease

  • Wernicke Syndrome
Thiamine Metabolism Dysfunction Syndrome 2

  • Biotin-Responsive Basal Ganglia Disease

  • Basal Ganglia Disease, Biotin-Responsive

  • THMD2

  • Bbgd

  • Btbgd

  • Encephalopathy, Thiamine-Responsive

  • Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type

  • Thiamine-Responsive Encephalopathy
Wernicke-Korsakoff Syndrome

  • Korsakoff Syndrome

  • Transketolase Defect

  • Korsakoff'S Syndrome

  • Alcohol-Induced Encephalopathy

  • Korsakoff'S Psychosis

  • Korsakov Psychosis

  • Korsakov'S Psychosis

  • Alcohol Induced Encephalopathy

  • Korsakoff Disease

  • Korsakoff Psychosis
Chronic Polyneuropathy
Myopathy

  • Muscular Diseases

  • Myopathies
Leigh Syndrome

  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS13099 SLC25A19 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SLC25A19 VGNC VGNC:77474
Canis familiaris SLC25A19 VGNC VGNC:46298
Mus musculus SLC25A19 MGD MGI:1914533
Bos taurus SLC25A19 VGNC VGNC:34747
Felis catus SLC25A19 VGNC VGNC:65261
Rattus norvegicus SLC25A19 RGD RGD:1359554
Others SLC25A19 NCBI