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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 and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for SLC25A19 Gene

Promoters and enhancers for SLC25A19 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I075288 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 562.7 -3.7 -3702 11 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 SLC25A19 NUP85 GRB2 UNK GGA3 ENSG00000266980 NT5C RECQL5 CDK3 SLC16A5
GH17I075507 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 -223.6 -223591 11.8 CLOCK MLX ZFP64 DMAP1 SLC30A9 ZNF213 ZNF143 SP3 NFYC SSRP1 TSEN54 CASKIN2 NUP85 ENSG00000267342 ENSG00000266980 NT5C LLGL2 NAT9 EXOC7 UNK
GH17I075455 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 -168.3 -168286 6.4 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A DMAP1 TMEM94 NUP85 RECQL5 CDK3 ENSG00000266980 UNK SRP68 LLGL2 CDR2L SLC25A19
GH17I076258 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -978.0 -978018 19.6 CLOCK DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A UBALD2 UNK ENSG00000267342 SRSF2 TRIM65 ENSG00000266980 ENSG00000267546 METTL23 MFSD11 EXOC7
GH17I075776 Promoter/Enhancer 2.7 UCNEbase EPDnew Ensembl ENCODE dbSUPER 10.1 -488.6 -488569 4.9 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 H3F3B GC17P075777 GC17M075778 UNK NT5C SRSF2 NUP85 ENSG00000266980 GGA3 METTL23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC25A19 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC25A19 gene promoter:

Genomic Locations for SLC25A19 Gene

Genomic Locations for SLC25A19 Gene
chr17:75,272,980-75,289,957
(GRCh38/hg38)
Size:
16,978 bases
Orientation:
Minus strand
chr17:73,269,061-73,285,591
(GRCh37/hg19)

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 posLast=153153
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC25A19 Gene

Domains & Families for SLC25A19 Gene

Gene Families for SLC25A19 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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.

Phenotypes From GWAS Catalog for SLC25A19 Gene

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 transmembrane 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

Clone 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 HDA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC25A19 Gene

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 transmembrane 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

Clone 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
Regions:
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

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 33 34
  • 98.85 (n)
cow
(Bos Taurus)
Mammalia SLC25A19 33 34
  • 84.38 (n)
dog
(Canis familiaris)
Mammalia SLC25A19 33 34
  • 83.23 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a19 33
  • 81.16 (n)
mouse
(Mus musculus)
Mammalia Slc25a19 33 16 34
  • 80.63 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A19 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A19 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A19 33 34
  • 67.82 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A19 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a19 33
  • 65.26 (n)
Str.3933 33
zebrafish
(Danio rerio)
Actinopterygii slc25a19 33 34
  • 61.2 (n)
wufj01c08 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006806 33
  • 47.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tpc1 33 34
  • 47.64 (n)
CG6608 35
  • 37 (a)
CG2857 35
  • 34 (a)
Tpc2 34
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hpo-12 33
  • 49.11 (n)
C42C1.10 35
  • 42 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR036W 33
  • 48.04 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D15015g 33
  • 43.12 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TPC1 33 36
  • 42.64 (n)
-- 34
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G48970 33
  • 49.26 (n)
rice
(Oryza sativa)
Liliopsida Os01g0934200 33
  • 50.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07384 33
  • 49.37 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1604.04 33
  • 46.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs119473030 pathogenic, Amish lethal microcephaly, Microcephaly, Amish type (MCPHA) [MIM:607196] 75,278,265(-) C/G coding_sequence_variant, intron_variant, missense_variant
rs142281464 conflicting-interpretations-of-pathogenicity, uncertain-significance, not specified, Amish lethal microcephaly 75,278,312(-) G/A coding_sequence_variant, intron_variant, synonymous_variant
rs146573563 uncertain-significance, Amish lethal microcephaly 75,283,558(-) G/C coding_sequence_variant, missense_variant
rs148372053 uncertain-significance, conflicting-interpretations-of-pathogenicity, Amish lethal microcephaly, not specified 75,273,617(-) A/C coding_sequence_variant, missense_variant
rs1809352 benign, likely-benign, not specified, Amish lethal microcephaly 75,273,449(-) A/G 3_prime_UTR_variant

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly, amish type
  • mcpha
thiamine metabolism dysfunction syndrome 4
  • thmd4
nasal cavity cancer
  • malignant neoplasm of nasal cavities
microcephaly
  • microcephalus
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.

Additional Disease Information for SLC25A19

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JE (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 22 58
  2. SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. (PMID: 19798730) Spiegel R … Elpeleg O (Annals of neurology 2009) 2 3 4 58
  3. The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier. (PMID: 18280798) Kang J … Samuels DC (Mitochondrion 2008) 3 4 22 58
  4. Mutant deoxynucleotide carrier is associated with congenital microcephaly. (PMID: 12185364) Rosenberg MJ … Biesecker LG (Nature genetics 2002) 3 4 22 58
  5. Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC). (PMID: 11474176) Iacobazzi V … Palmieri F (Cytogenetics and cell genetics 2001) 2 3 22 58

Products for SLC25A19 Gene

Sources for SLC25A19 Gene