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Aliases for SLC25A1 Gene

Aliases for SLC25A1 Gene

  • Solute Carrier Family 25 Member 1 2 3 4
  • Solute Carrier Family 25 (Mitochondrial Carrier; Citrate Transporter), Member 1 2 3
  • Solute Carrier Family 20 (Mitochondrial Citrate Transporter), Member 3 2 3
  • Tricarboxylate Carrier Protein 3 4
  • Citrate Transport Protein 3 4
  • SLC20A3 3 4
  • CTP 3 4
  • Solute Carrier Family 25 (Mitochondrial Carrier Citrate Transporter), Member 1 5
  • D2L2AD 3
  • SEA 3

External Ids for SLC25A1 Gene

Previous HGNC Symbols for SLC25A1 Gene

  • SLC20A3

Previous GeneCards Identifiers for SLC25A1 Gene

  • GC22M016103
  • GC22M017537
  • GC22M002784

Summaries for SLC25A1 Gene

Entrez Gene Summary for SLC25A1 Gene

  • This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GeneCards Summary for SLC25A1 Gene

SLC25A1 (Solute Carrier Family 25 Member 1) is a Protein Coding gene. Diseases associated with SLC25A1 include Combined D-2- And L-2-Hydroxyglutaric Aciduria and D,L-2-Hydroxyglutaric Aciduria. Among its related pathways are Glycosaminoglycan metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include citrate transmembrane transporter activity.

UniProtKB/Swiss-Prot for SLC25A1 Gene

  • Involved in citrate-H(+)/malate exchange. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway.

Gene Wiki entry for SLC25A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A1 Gene

Genomics for SLC25A1 Gene

Regulatory Elements for SLC25A1 Gene

Enhancers for SLC25A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC25A1 on UCSC Golden Path with GeneCards custom track

Promoters for SLC25A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC25A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC25A1 Gene

Chromosome:
22
Start:
19,175,575 bp from pter
End:
19,178,863 bp from pter
Size:
3,289 bases
Orientation:
Minus strand

Genomic View for SLC25A1 Gene

Genes around SLC25A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A1 Gene

Proteins for SLC25A1 Gene

  • Protein details for SLC25A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53007-TXTP_HUMAN
    Recommended name:
    Tricarboxylate transport protein, mitochondrial
    Protein Accession:
    P53007
    Secondary Accessions:
    • A8K8E8
    • Q9BSK6

    Protein attributes for SLC25A1 Gene

    Size:
    311 amino acids
    Molecular mass:
    34013 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC25A1 Gene

Proteomics data for SLC25A1 Gene at MOPED

Post-translational modifications for SLC25A1 Gene

  • Ubiquitination at Lys 160, Lys 178, and Lys 255
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A1 Gene

Antibody Products

No data available for DME Specific Peptides for SLC25A1 Gene

Domains & Families for SLC25A1 Gene

Gene Families for SLC25A1 Gene

Protein Domains for SLC25A1 Gene

Graphical View of Domain Structure for InterPro Entry

P53007

UniProtKB/Swiss-Prot:

TXTP_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Contains 3 Solcar repeats.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity:
  • Contains 3 Solcar repeats.
genes like me logo Genes that share domains with SLC25A1: view

Function for SLC25A1 Gene

Molecular function for SLC25A1 Gene

GENATLAS Biochemistry:
solute carrier family 25 mitochondrial,member A1,citrate transporter,disrupted by ADU breakpoint
UniProtKB/Swiss-Prot Function:
Involved in citrate-H(+)/malate exchange. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway.

Gene Ontology (GO) - Molecular Function for SLC25A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015142 tricarboxylic acid transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC25A1: view
genes like me logo Genes that share phenotypes with SLC25A1: view

Human Phenotype Ontology for SLC25A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A1

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A1 Gene

Localization for SLC25A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A1 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC25A1 Gene COMPARTMENTS Subcellular localization image for SLC25A1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for SLC25A1 Gene

Pathways & Interactions for SLC25A1 Gene

genes like me logo Genes that share pathways with SLC25A1: view

Gene Ontology (GO) - Biological Process for SLC25A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process TAS --
GO:0006412 translation IBA --
GO:0006810 transport IEA --
GO:0035674 tricarboxylic acid transmembrane transport TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SLC25A1: view

No data available for SIGNOR curated interactions for SLC25A1 Gene

Drugs & Compounds for SLC25A1 Gene

(2) Drugs for SLC25A1 Gene - From: DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1,2,3-benzenetricarboxylic acid Pharma Inhibition, Inhibitor 0
NAD Pharma Full agonist, Agonist 0
genes like me logo Genes that share compounds with SLC25A1: view

Transcripts for SLC25A1 Gene

Unigene Clusters for SLC25A1 Gene

Solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A1 Gene

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

Relevant External Links for SLC25A1 Gene

GeneLoc Exon Structure for
SLC25A1
ECgene alternative splicing isoforms for
SLC25A1

Expression for SLC25A1 Gene

mRNA expression in normal human tissues for SLC25A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC25A1 Gene

This gene is overexpressed in Nasal epithelium (31.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC25A1 Gene



SOURCE GeneReport for Unigene cluster for SLC25A1 Gene Hs.111024

genes like me logo Genes that share expression patterns with SLC25A1: view

Protein tissue co-expression partners for SLC25A1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SLC25A1 Gene

Orthologs for SLC25A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC25A1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A1 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC25A1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A1 36
  • 62 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC25A1 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76218 35
African clawed frog
(Xenopus laevis)
Amphibia slc25a1-prov 35
zebrafish
(Danio rerio)
Actinopterygii slc25a1b 35
  • 72.92 (n)
  • 82.59 (a)
zgc63578 35
SLC25A1 (3 of 3) 36
  • 83 (a)
OneToMany
slc25a1a 36
  • 66 (a)
OneToMany
slc25a1b 36
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6782 37
  • 66 (a)
sea 36
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K11H3.3 37
  • 65 (a)
K11H3.3 36
  • 59 (a)
OneToMany
Y37B11A.3 36
  • 29 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E18723g 35
  • 45.91 (n)
  • 38.1 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CTP1 35
  • 46.32 (n)
  • 40.81 (a)
CTP1 36
  • 37 (a)
OneToOne
CTP1 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8914 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3482 36
  • 68 (a)
OneToOne
Species with no ortholog for SLC25A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC25A1 Gene

ENSEMBL:
Gene Tree for SLC25A1 (if available)
TreeFam:
Gene Tree for SLC25A1 (if available)

Paralogs for SLC25A1 Gene

(6) SIMAP similar genes for SLC25A1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC25A1: view

No data available for Paralogs for SLC25A1 Gene

Variants for SLC25A1 Gene

Sequence variations from dbSNP and Humsavar for SLC25A1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_069490 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)
VAR_069491 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)
VAR_069492 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)
VAR_069493 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)
VAR_069494 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)

Structural Variations from Database of Genomic Variants (DGV) for SLC25A1 Gene

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
nsv914268 CNV Gain 21882294
nsv834122 CNV Loss 17160897
nsv914269 CNV Loss 21882294
dgv4838n71 CNV Loss 21882294

Variation tolerance for SLC25A1 Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC25A1 Gene

Human Gene Mutation Database (HGMD)
SLC25A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A1 Gene

Disorders for SLC25A1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SLC25A1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined d-2- and l-2-hydroxyglutaric aciduria
  • d2l2ad
d,l-2-hydroxyglutaric aciduria
  • combined d-2-hydroxyglutaric acidemia and l-2-hydroxyglutaric acidemia
presynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, presynaptic
l-2-hydroxyglutaric aciduria
  • l-2-hydroxyglutaric acidemia
2-hydroxyglutaric aciduria
  • combined d-2- and l-2-hydroxyglutaric aciduria
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TXTP_HUMAN
  • Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]: An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts. {ECO:0000269 PubMed:23561848}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC25A1

Genetic Association Database (GAD)
SLC25A1
Human Genome Epidemiology (HuGE) Navigator
SLC25A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC25A1
genes like me logo Genes that share disorders with SLC25A1: view

No data available for Genatlas for SLC25A1 Gene

Publications for SLC25A1 Gene

  1. Localization of the human mitochondrial citrate transporter protein gene to chromosome 22q11 in the DiGeorge syndrome critical region. (PMID: 8666394) Heisterkamp N. … Groffen J. (Genomics 1995) 2 3 4 67
  2. Organization and sequence of the human gene for the mitochondrial citrate transport protein. (PMID: 9254007) Iacobazzi V. … Palmieri F. (DNA Seq. 1997) 2 3
  3. Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. (PMID: 8660975) Goldmuntz E. … Budarf M.L. (Genomics 1996) 3 23
  4. The mitochondrial tricarboxylate transport protein. cDNA cloning, primary structure, and comparison with other mitochondrial transport proteins. (PMID: 8514800) Kaplan R.S. … Wood D.O. (J. Biol. Chem. 1993) 3 23
  5. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3

Products for SLC25A1 Gene

Sources for SLC25A1 Gene

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