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Aliases for SLC25A19 Gene

Aliases for SLC25A19 Gene

  • Solute Carrier Family 25 Member 19 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Thiamine Pyrophosphate Carrier), Member 19 2 3
  • Solute Carrier Family 25 (Mitochondrial Deoxynucleotide Carrier), Member 19 2 3
  • Mitochondrial Uncoupling Protein 1 3 4
  • MUP1 3 4
  • DNC 3 4
  • Mitochondrial Thiamine Pyrophosphate Carrier 3
  • Microcephaly, Amish 2
  • THMD3 3
  • THMD4 3
  • MCPHA 3
  • TPC 3

External Ids for SLC25A19 Gene

Previous HGNC Symbols for SLC25A19 Gene

  • MCPHA

Previous GeneCards Identifiers for SLC25A19 Gene

  • GC17M073266
  • GC17M076328
  • GC17M073733
  • GC17M073866
  • GC17M070780
  • GC17M068679

Summaries for SLC25A19 Gene

Entrez Gene Summary for SLC25A19 Gene

  • 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]

GeneCards Summary for SLC25A19 Gene

SLC25A19 (Solute Carrier Family 25 Member 19) is a Protein Coding gene. Diseases associated with SLC25A19 include Microcephaly, Amish Type and Thiamine Metabolism Dysfunction Syndrome 4. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. GO annotations related to this gene include deoxynucleotide transmembrane transporter activity.

UniProtKB/Swiss-Prot for SLC25A19 Gene

  • Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.

Gene Wiki entry for SLC25A19 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A19 Gene

Genomics for SLC25A19 Gene

Regulatory Elements for SLC25A19 Gene

Enhancers for SLC25A19 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G075311 2 FANTOM5 Ensembl ENCODE dbSUPER 9.1 -26.2 -26229 10.0 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF416 ZNF263 SP3 NFYC TBX21 GRB2 UNK CDK3 MRPS7 NUP85 SUMO2 MIF4GD TEN1 RN7SL573P SLC25A19
GH17G075307 2 FANTOM5 Ensembl ENCODE dbSUPER 5.8 -19.4 -19444 3.2 HDGF PKNOX1 SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF207 FOS ZNF263 MRPS7 NUP85 GRB2 LOC100287042 H3F3B SLC25A19 SLC16A5 SAP30BP GGA3 UNK
GH17G075288 2.1 FANTOM5 Ensembl ENCODE dbSUPER 4.2 -3.7 -3702 11.0 CREB3L1 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 GRB2 NUP85 SUMO2 CDK3 H3F3B TMEM94 ENSG00000267342 LLGL2 UNK TEN1
GH17G075363 1.2 Ensembl ENCODE dbSUPER 5.4 -74.4 -74394 0.9 SOX13 CTCF TFAP4 SAP130 FEZF1 THRB RAD21 ZNF366 ZSCAN5C FOS GRB2 TMEM94 MIF4GD SLC25A19 ENSG00000264853 ENSG00000265987
GH17G075301 1.5 FANTOM5 Ensembl dbSUPER 3.9 -11.8 -11750 1.4 PKNOX1 THRB RARA GATA2 EGR1 EGR2 ZNF263 CEBPB USF2 NFIC NUP85 GRB2 H3F3B SAP30BP LOC100287042 SLC25A19 SLC16A5 GGA3 UNK PIR45929
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC25A19 on UCSC Golden Path with GeneCards custom track

Promoters for SLC25A19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098353 557 2001 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for SLC25A19 Gene

Chromosome:
17
Start:
75,272,980 bp from pter
End:
75,289,957 bp from pter
Size:
16,978 bases
Orientation:
Minus strand

Genomic View for SLC25A19 Gene

Genes around SLC25A19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A19 Gene

Proteins for SLC25A19 Gene

  • Protein details for SLC25A19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC21-TPC_HUMAN
    Recommended name:
    Mitochondrial thiamine pyrophosphate carrier
    Protein Accession:
    Q9HC21
    Secondary Accessions:
    • E9PF74
    • Q6V9R7

    Protein attributes for SLC25A19 Gene

    Size:
    320 amino acids
    Molecular mass:
    35511 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity).

    Alternative splice isoforms for SLC25A19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A19 Gene

Post-translational modifications for SLC25A19 Gene

  • Ubiquitination at Lys153
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC25A19 Gene

Domains & Families for SLC25A19 Gene

Gene Families for SLC25A19 Gene

Protein Domains for SLC25A19 Gene

Suggested Antigen Peptide Sequences for SLC25A19 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HC21

UniProtKB/Swiss-Prot:

TPC_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A19: view

Function for SLC25A19 Gene

Molecular function for SLC25A19 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.

Gene Ontology (GO) - Molecular Function for SLC25A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015234 thiamine transmembrane transporter activity IBA --
GO:0030233 deoxynucleotide transmembrane transporter activity TAS 11226231
GO:0090422 thiamine pyrophosphate transporter activity TAS --
genes like me logo Genes that share ontologies with SLC25A19: view
genes like me logo Genes that share phenotypes with SLC25A19: view

Human Phenotype Ontology for SLC25A19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC25A19 Gene

MGI Knock Outs for SLC25A19:

Animal Model Products

CRISPR Products

miRNA for SLC25A19 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC25A19 Gene

Localization for SLC25A19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A19 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A19 gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC25A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A19: view

Pathways & Interactions for SLC25A19 Gene

genes like me logo Genes that share pathways with SLC25A19: view

Gene Ontology (GO) - Biological Process for SLC25A19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006839 mitochondrial transport IBA --
GO:0030302 deoxynucleotide transport NAS 11226231
GO:0030974 thiamine pyrophosphate transport IBA --
GO:0042723 thiamine-containing compound metabolic process TAS --
genes like me logo Genes that share ontologies with SLC25A19: view

No data available for SIGNOR curated interactions for SLC25A19 Gene

Drugs & Compounds for SLC25A19 Gene

(2) Drugs for SLC25A19 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for SLC25A19 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC25A19: view

Transcripts for SLC25A19 Gene

Unigene Clusters for SLC25A19 Gene

Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A19 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e
SP1: - -
SP2: -
SP3: - - - - -
SP4: - - - -
SP5:
SP6: - - - - - - - -
SP7: - -
SP8: - - - - -
SP9: -
SP10: - - -
SP11: - - -
SP12: - - -

Relevant External Links for SLC25A19 Gene

GeneLoc Exon Structure for
SLC25A19
ECgene alternative splicing isoforms for
SLC25A19

Expression for SLC25A19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC25A19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC25A19 Gene

This gene is overexpressed in Breast (21.3), Pancreas (17.9), and Prostate (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC25A19 Gene



Protein tissue co-expression partners for SLC25A19 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC25A19 Gene:

SLC25A19

SOURCE GeneReport for Unigene cluster for SLC25A19 Gene:

Hs.514470

mRNA Expression by UniProt/SwissProt for SLC25A19 Gene:

Q9HC21-TPC_HUMAN
Tissue specificity: Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain.

Evidence on tissue expression from TISSUES for SLC25A19 Gene

  • Liver(4.3)
  • Lung(4.3)
  • Nervous system(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A19 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • liver
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SLC25A19: view

Primer Products

No data available for mRNA differential expression in normal tissues for SLC25A19 Gene

Orthologs for SLC25A19 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A19 34 35
  • 98.85 (n)
cow
(Bos Taurus)
Mammalia SLC25A19 34 35
  • 84.38 (n)
dog
(Canis familiaris)
Mammalia SLC25A19 34 35
  • 83.23 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a19 34
  • 81.16 (n)
mouse
(Mus musculus)
Mammalia Slc25a19 34 16 35
  • 80.63 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A19 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A19 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A19 34 35
  • 67.82 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A19 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a19 34
  • 65.26 (n)
Str.3933 34
zebrafish
(Danio rerio)
Actinopterygii slc25a19 34 35
  • 61.2 (n)
wufj01c08 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006806 34
  • 47.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tpc1 34 35
  • 47.64 (n)
CG6608 36
  • 37 (a)
CG2857 36
  • 34 (a)
Tpc2 35
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hpo-12 34
  • 49.11 (n)
C42C1.10 36
  • 42 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR036W 34
  • 48.04 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D15015g 34
  • 43.12 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TPC1 34 37
  • 42.64 (n)
-- 35
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G48970 34
  • 49.26 (n)
rice
(Oryza sativa)
Liliopsida Os01g0934200 34
  • 50.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07384 34
  • 49.37 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1604.04 34
  • 46.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
Species where no ortholog for SLC25A19 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC25A19 Gene

ENSEMBL:
Gene Tree for SLC25A19 (if available)
TreeFam:
Gene Tree for SLC25A19 (if available)

Paralogs for SLC25A19 Gene

genes like me logo Genes that share paralogs with SLC25A19: view

No data available for Paralogs for SLC25A19 Gene

Variants for SLC25A19 Gene

Sequence variations from dbSNP and Humsavar for SLC25A19 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs119473030 Pathogenic, Microcephaly, Amish type (MCPHA) [MIM:607196] 75,278,265(-) CAAAG(C/G)CTTGG intron-variant, reference, missense
rs387906944 Pathogenic, Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) [MIM:613710] 75,283,509(-) TATGT(A/G)GTGGC reference, missense
rs759157320 Likely pathogenic 75,278,290(+) GCCTT(C/T)GCTCC intron-variant, reference, missense
rs1809352 Likely benign 75,273,449(+) CCTGC(A/G)CTCAG nc-transcript-variant, utr-variant-3-prime
rs2291033 Likely benign 75,289,380(+) GGCTC(A/C/G)GCGCT upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC25A19 Gene

Variant ID Type Subtype PubMed ID
esv2671377 CNV deletion 23128226
esv2716237 CNV deletion 23290073
esv3554784 CNV deletion 23714750
nsv1066312 CNV gain 25217958
nsv510727 CNV deletion 20534489
nsv576027 CNV gain 21841781

Variation tolerance for SLC25A19 Gene

Residual Variation Intolerance Score: 41.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.50; 82.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC25A19 Gene

Human Gene Mutation Database (HGMD)
SLC25A19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A19 Gene

Disorders for SLC25A19 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SLC25A19 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly, amish type
  • amish lethal microcephaly
thiamine metabolism dysfunction syndrome 4
  • bilateral striatal degeneration and progressive polyneuropathy
microcephaly
  • microcephalus
nasal cavity cancer
  • malignant neoplasm of nasal cavities
nasal cavity squamous cell carcinoma
  • squamous cell carcinoma of nasal cavity
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TPC_HUMAN
  • Microcephaly, Amish type (MCPHA) [MIM:607196]: A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year. {ECO:0000269 PubMed:12185364}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) [MIM:613710]: A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. {ECO:0000269 PubMed:19798730}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC25A19

Genetic Association Database (GAD)
SLC25A19
Human Genome Epidemiology (HuGE) Navigator
SLC25A19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC25A19
genes like me logo Genes that share disorders with SLC25A19: view

No data available for Genatlas for SLC25A19 Gene

Publications for SLC25A19 Gene

  1. The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals. (PMID: 11226231) Dolce V. … Walker J.E. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 4 22 64
  2. SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. (PMID: 19798730) Spiegel R. … Elpeleg O. (Ann. Neurol. 2009) 2 3 4 64
  3. The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier. (PMID: 18280798) Kang J. … Samuels D.C. (Mitochondrion 2008) 3 4 22 64
  4. Mutant deoxynucleotide carrier is associated with congenital microcephaly. (PMID: 12185364) Rosenberg M.J. … Biesecker L.G. (Nat. Genet. 2002) 3 4 22 64
  5. Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC). (PMID: 11474176) Iacobazzi V. … Palmieri F. (Cytogenet. Cell Genet. 2001) 2 3 22 64

Products for SLC25A19 Gene

Sources for SLC25A19 Gene

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