Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	60386
Gene name	Solute carrier family 25 member 19
Gene symbol	SLC25A19
Synonyms (NCBI Gene)	DNCMCPHAMTPPTMUP1THMD3THMD4TPC
Chromosome	17
Chromosome location	17q25.1
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 mitochon

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119473030	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs143765189	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs147904037	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, coding sequence variant
rs148474667	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, coding sequence variant
rs387906944	C>T	Pathogenic	Coding sequence variant, missense variant
rs554218525	G>A,T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs759157320	C>T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs769187207	C>A,G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1175745274	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs1208990609	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1555603796	G>T	Pathogenic	Coding sequence variant, missense variant
rs1555604541	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020598	hsa-miR-155-5p	Proteomics	18668040
MIRT023578	hsa-miR-1-3p	Proteomics	18668040
MIRT032289	hsa-let-7b-5p	Proteomics	18668040
MIRT439616	hsa-miR-543	HITS-CLIP	24374217
MIRT439616	hsa-miR-543	HITS-CLIP	24374217
MIRT1355574	hsa-miR-1	CLIP-seq
MIRT1355575	hsa-miR-206	CLIP-seq
MIRT1355576	hsa-miR-4796-5p	CLIP-seq
MIRT1355577	hsa-miR-613	CLIP-seq
MIRT2329881	hsa-miR-4656	CLIP-seq
MIRT2624075	hsa-miR-205	CLIP-seq
MIRT2624076	hsa-miR-3667-3p	CLIP-seq
MIRT2624077	hsa-miR-4433	CLIP-seq
MIRT2624078	hsa-miR-4459	CLIP-seq
MIRT2624079	hsa-miR-4695-5p	CLIP-seq
MIRT2624080	hsa-miR-4768-3p	CLIP-seq
MIRT2624081	hsa-miR-485-5p	CLIP-seq
MIRT2690976	hsa-miR-15a	CLIP-seq
MIRT2690977	hsa-miR-15b	CLIP-seq
MIRT2690978	hsa-miR-16	CLIP-seq
MIRT2690979	hsa-miR-195	CLIP-seq
MIRT2690980	hsa-miR-1976	CLIP-seq
MIRT2690981	hsa-miR-3130-3p	CLIP-seq
MIRT2690982	hsa-miR-3189-5p	CLIP-seq
MIRT2690983	hsa-miR-424	CLIP-seq
MIRT2690984	hsa-miR-4323	CLIP-seq
MIRT2690985	hsa-miR-4512	CLIP-seq
MIRT2690986	hsa-miR-4687-5p	CLIP-seq
MIRT2690987	hsa-miR-4793-3p	CLIP-seq
MIRT2690988	hsa-miR-497	CLIP-seq
MIRT2690989	hsa-miR-518a-5p	CLIP-seq
MIRT2690990	hsa-miR-527	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	15539640, 31506564
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0009229	Process	Thiamine diphosphate biosynthetic process	IEA
GO:0015234	Function	Thiamine transmembrane transporter activity	IBA
GO:0015297	Function	Antiporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0030233	Function	Deoxynucleotide transmembrane transporter activity	IDA	15539640, 17035501
GO:0030233	Function	Deoxynucleotide transmembrane transporter activity	TAS	11226231
GO:0030302	Process	Deoxynucleotide transport	IDA	15539640
GO:0030302	Process	Deoxynucleotide transport	NAS	11226231
GO:0030974	Process	Thiamine pyrophosphate transmembrane transport	IBA
GO:0030974	Process	Thiamine pyrophosphate transmembrane transport	IDA	17035501
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0042723	Process	Thiamine-containing compound metabolic process	IEA
GO:0042723	Process	Thiamine-containing compound metabolic process	TAS
GO:0055085	Process	Transmembrane transport	IEA
GO:0090422	Function	Thiamine pyrophosphate transmembrane transporter activity	IDA	17035501
GO:0090422	Function	Thiamine pyrophosphate transmembrane transporter activity	IEA
GO:0090422	Function	Thiamine pyrophosphate transmembrane transporter activity	TAS

MIM	HGNC	e!Ensembl
606521	14409	ENSG00000125454

Q9HC21

Protein name

Mitochondrial thiamine pyrophosphate carrier (Mitochondrial thiamine pyrophosphate transporter) (MTPPT) (Mitochondrial uncoupling protein 1) (Solute carrier family 25 member 19)

Protein function

Mitochondrial transporter mediating uptake of thiamine diphosphate into mitochondria. It is not clear if the antiporter activity is affected by the membrane potential or by the proton electrochemical gradient. {ECO:0000269|PubMed:17035501, ECO:0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00153	Mito_carr	12 → 111	Mitochondrial carrier protein	Family
PF00153	Mito_carr	114 → 206	Mitochondrial carrier protein	Family
PF00153	Mito_carr	212 → 314	Mitochondrial carrier protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain. {ECO:0000269|PubMed:11226231}.

Sequence

MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYH
GILQASRQILQEEGPTAFWKGHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSV
HFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRHAVGTMYRSEGPQVFYKGLAP
TLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSGAGVISKTLTYPLDLF
KKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMF
FSYEFFCNVFHCMNRTASQR

Sequence length

320

Interactions

View interactions

	Reactome
			Vitamin B1 (thiamin) metabolism

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amish lethal microcephaly	Pathogenic; Likely pathogenic	rs119473030, rs387906944, rs554218525, rs372041843	RCV000004490 RCV001847622 RCV000853268 RCV000853269
Progressive demyelinating neuropathy with bilateral striatal necrosis	Pathogenic; Likely pathogenic	rs1300370754, rs750590533, rs1598180323, rs181826033, rs2145724052, rs387906944, rs769187207, rs1555603796, rs1555604541, rs1175745274	RCV002264842 RCV002264843 RCV002264844 RCV002264845 RCV002264846 RCV000023554 RCV000656121 RCV000656119 RCV000656118 RCV000578249

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Benign	rs4788882	RCV005923804
Malignant tumor of urinary bladder	Uncertain significance	rs773250006, rs565794451	RCV005925375 RCV005892367
SLC25A19-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs147904037, rs138452752, rs754010071, rs148372053, rs780556634, rs370578595, rs144563813, rs138376525	RCV003905128 RCV003958804 RCV003946342 RCV003930038 RCV003942255 RCV003970226 RCV003905577 RCV003908045

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amish lethal microcephaly	Associate	31506564, 34587972
Anorectal Malformations	Associate	29703930
Brain Diseases	Associate	34587972
Colorectal Neoplasms	Associate	29703930
Fever	Associate	34587972
Leigh Disease	Associate	36093993
Microcephaly	Associate	31506564
Neoplasms	Inhibit	19753307
Neoplasms	Associate	24843013, 26553077, 33707442
Obesity Morbid	Associate	32734695
Papilloma Choroid Plexus	Associate	29703930
Polyneuropathies	Associate	34587972

SLC25A19 (solute carrier family 25 member 19)