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SLC25A19 - solute carrier family 25 member 19 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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

0
100
200
300
320 a.a.

Protein Preferred Names	Protein Names
mitochondrial thiamine pyrophosphate carrier	Deoxynucleotide carrier

関連疾患

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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13099	SLC25A19 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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