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Aliases for SLC25A1 Gene

Aliases for SLC25A1 Gene

  • Solute Carrier Family 25 (Mitochondrial Carrier; Citrate Transporter), Member 1 2 3
  • SLC20A3 3 4 6
  • CTP 3 4 6
  • Solute Carrier Family 20 (Mitochondrial Citrate Transporter), Member 3 2 3
  • Tricarboxylate Carrier Protein 3 4
  • Citrate Transport Protein 3 4
  • D2L2AD 3 6
  • Tricarboxylate Transport Protein, Mitochondrial 3
  • Solute Carrier Family 25 Member 1 4
  • 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 (Mitochondrial Carrier; Citrate Transporter), 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 Metabolism and Metabolism. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC25A1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys160, Lys178, and Lys255
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A1 Gene

Domains 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 :
  • P53007
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:0015137 citrate transmembrane transporter activity TAS 8666394
genes like me logo Genes that share ontologies with SLC25A1: view

Phenotypes for SLC25A1 Gene

GenomeRNAi human phenotypes for SLC25A1:
genes like me logo Genes that share phenotypes with SLC25A1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC25A1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
mitochondrion 5
chloroplast 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC25A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SLC25A1: view

Pathways for SLC25A1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SLC25A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS --
GO:0006810 transport --
GO:0015746 citrate transport TAS 8666394
genes like me logo Genes that share ontologies with SLC25A1: view

Compounds for SLC25A1 Gene

(1) HMDB Compounds for SLC25A1 Gene

Compound Synonyms Cas Number PubMed IDs
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9

(1) IUPHAR Ligand for SLC25A1 Gene

Ligand Type Action Affinity Pubmed IDs
1,2,3-benzenetricarboxylic acid Inhibitor Inhibition
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC25A1

Primer Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with SLC25A1: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia SLC25A1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a1 16
Slc25a1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC25A1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A1 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A1 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia slc25a1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76218 35
zebrafish
(Danio rerio)
Actinopterygii SLC25A1 (3 of 3) 36
  • 83 (a)
OneToMany
slc25a1a 36
  • 66 (a)
OneToMany
slc25a1b 35
  • 72.92 (n)
  • 82.59 (a)
slc25a1b 36
  • 62 (a)
OneToMany
zgc63578 35
fruit fly
(Drosophila melanogaster)
Insecta sea 36
  • 61 (a)
OneToOne
CG6782 37
  • 66 (a)
worm
(Caenorhabditis elegans)
Secernentea K11H3.3 36
  • 59 (a)
OneToMany
Y37B11A.3 36
  • 29 (a)
OneToMany
K11H3.3 37
  • 65 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CTP1 35
  • 46.32 (n)
  • 40.81 (a)
CTP1 36
  • 37 (a)
OneToOne
CTP1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E18723g 35
  • 45.91 (n)
  • 38.1 (a)
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

Selected 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 MAF
rs361659 -- 19,178,574(+) GAGGG(-/G)CCCAC upstream-variant-2KB, intron-variant
rs361714 -- 19,178,611(+) GTCAG(-/C)TTGGC upstream-variant-2KB, frameshift-variant, reference, nc-transcript-variant
rs361732 -- 19,178,660(+) gggcg(-/C)ggggc upstream-variant-2KB, frameshift-variant, reference, nc-transcript-variant
rs361736 -- 19,178,323(+) GGTCG(-/G)CGCGG frameshift-variant, reference, intron-variant
rs807668 -- 19,175,173(+) GGCAT(A/G)CCCCA downstream-variant-500B

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

Relevant External Links for SLC25A1 Gene

HapMap Linkage Disequilibrium report
SLC25A1
Human Gene Mutation Database (HGMD)
SLC25A1

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

Disorders for SLC25A1 Gene

(1) OMIM Diseases for SLC25A1 Gene (190315)

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.

(2) University of Copenhagen DISEASES for SLC25A1 Gene

Relevant External Links for SLC25A1

Genetic Association Database (GAD)
SLC25A1
Human Genome Epidemiology (HuGE) Navigator
SLC25A1
genes like me logo Genes that share disorders with SLC25A1: view

Publications for SLC25A1 Gene

  1. 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 4 23
  2. 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
  3. 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
  4. Organization and sequence of the human gene for the mitochondrial citrate transport protein. (PMID: 9254007) Iacobazzi V. … Palmieri F. (DNA Seq. 1997) 2 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for SLC25A1 Gene

Sources for SLC25A1 Gene

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