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... See more...

Aliases for SLC25A1 Gene

Aliases for SLC25A1 Gene

  • Solute Carrier Family 25 Member 1 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Carrier; Citrate Transporter), Member 1 2 3
  • Solute Carrier Family 20 (Mitochondrial Citrate Transporter), Member 3 2 3
  • Tricarboxylate Transport Protein, Mitochondrial 3 4
  • Tricarboxylate Carrier Protein 3 4
  • Citrate Transport Protein 3 4
  • SLC20A3 3 4
  • CTP 3 4
  • D2L2AD 3
  • CMS23 3
  • SEA 3

External Ids for SLC25A1 Gene

Previous HGNC Symbols for SLC25A1 Gene

  • SLC20A3

Previous GeneCards Identifiers for SLC25A1 Gene

  • GC22M016103
  • GC22M017537
  • GC22M019163
  • 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 Myasthenic Syndrome, Congenital, 23, Presynaptic. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include citrate transmembrane transporter activity. An important paralog of this gene is SLC25A22.

UniProtKB/Swiss-Prot Summary for SLC25A1 Gene

  • Citrate transporter that mediates the exchange of mitochondrial citrate for cytosolic malate (PubMed:29031613, PubMed:29238895). Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis- but not trans-aconitate and to a lesser extend maleate and succinate (PubMed:29031613). 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. Required for proper neuromuscular junction formation (Probable).

Gene Wiki entry for SLC25A1 Gene

Additional gene information for SLC25A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A1 Gene

Genomics for SLC25A1 Gene

GeneHancer (GH) Regulatory Elements for SLC25A1 Gene

Promoters and enhancers for SLC25A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC25A1 gene promoter:
  • AhR
  • AREB6
  • ARP-1
  • FAC1
  • GATA-2
  • IRF-7A
  • MRF-2
  • Sp1
  • USF-1
  • USF1

Genomic Locations for SLC25A1 Gene

Genomic Locations for SLC25A1 Gene
chr22:19,175,575-19,178,863
(GRCh38/hg38)
Size:
3,289 bases
Orientation:
Minus strand
chr22:19,163,094-19,166,343
(GRCh37/hg19)
Size:
3,250 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

Post-translational modifications for SLC25A1 Gene

  • Ubiquitination at Lys160, Lys178, and Lys255
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A1 Gene

No data available for DME Specific Peptides for SLC25A1 Gene

Domains & Families for SLC25A1 Gene

Gene Families for SLC25A1 Gene

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

Protein Domains for SLC25A1 Gene

Suggested Antigen Peptide Sequences for SLC25A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60026, highly similar to Tricarboxylate transport protein, mitochondrial (B4DP62_HUMAN)
  • Plasma membrane citrate carrier (D9HTE9_HUMAN)
  • Tricarboxylate carrier protein (TXTP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P53007

UniProtKB/Swiss-Prot:

TXTP_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 SLC25A1: view

Function for SLC25A1 Gene

Molecular function for SLC25A1 Gene

UniProtKB/Swiss-Prot Function:
Citrate transporter that mediates the exchange of mitochondrial citrate for cytosolic malate (PubMed:29031613, PubMed:29238895). Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis- but not trans-aconitate and to a lesser extend maleate and succinate (PubMed:29031613). 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. Required for proper neuromuscular junction formation (Probable).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.5 uM for citrate {ECO:0000269 PubMed:29031613};
GENATLAS Biochemistry:
solute carrier family 25 mitochondrial,member A1,citrate transporter,disrupted by ADU breakpoint

Phenotypes From GWAS Catalog for SLC25A1 Gene

Gene Ontology (GO) - Molecular Function for SLC25A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015137 citrate transmembrane transporter activity TAS 8666394
GO:0015142 tricarboxylic acid transmembrane transporter activity TAS --
GO:0022857 transmembrane transporter activity IEA --
GO:0071913 citrate secondary active transmembrane transporter activity IDA 29031613
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

Clone 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
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 SLC25A1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
cytosol 1
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for SLC25A1 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 SLC25A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0006094 gluconeogenesis TAS --
GO:0006843 mitochondrial citrate transmembrane transport IBA 21873635
GO:0046949 fatty-acyl-CoA biosynthetic process TAS --
GO:0055085 transmembrane transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sodium citrate Approved, Investigational Pharma Transporter, substrate 1437
NAD Experimental Pharma Full agonist, Agonist, Activator 0
1,2,3-benzenetricarboxylic acid Pharma Inhibition, Inhibitor 0
genes like me logo Genes that share compounds with SLC25A1: view

Transcripts for SLC25A1 Gene

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SLC25A1 Gene



Protein tissue co-expression partners for SLC25A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC25A1 Gene:

SLC25A1

SOURCE GeneReport for Unigene cluster for SLC25A1 Gene:

Hs.111024

Evidence on tissue expression from TISSUES for SLC25A1 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Kidney(4.3)
  • Pancreas(2.6)
  • Eye(2)
  • Heart(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • epiglottis
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • sternum
  • trachea
Abdomen:
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with SLC25A1: view

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 33
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A1 33
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a1 33
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A1 33
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC25A1 33
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A1 33
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A1 33
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A1 33
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76218 32
African clawed frog
(Xenopus laevis)
Amphibia slc25a1-prov 32
zebrafish
(Danio rerio)
Actinopterygii SLC25A1 (3 of 3) 33
  • 83 (a)
OneToMany
slc25a1b 33 32
  • 72.92 (n)
OneToMany
slc25a1a 33
  • 66 (a)
OneToMany
zgc63578 32
fruit fly
(Drosophila melanogaster)
Insecta CG6782 34
  • 66 (a)
sea 33
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K11H3.3 33 34
  • 59 (a)
OneToMany
Y37B11A.3 33
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CTP1 35 33 32
  • 46.32 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E18723g 32
  • 45.91 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3482 33
  • 68 (a)
OneToOne
Cin.8914 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8914 32
Species where no ortholog for SLC25A1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A1: view image

Paralogs for SLC25A1 Gene

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

  • TXTP_HUMAN
  • B4DP62_HUMAN
  • D9HTE9_HUMAN
genes like me logo Genes that share paralogs with SLC25A1: view

Variants for SLC25A1 Gene

Sequence variations from dbSNP and Humsavar for SLC25A1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1331417017 Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182] 19,176,884(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs144180074 benign, likely-benign, not specified, not provided 19,176,172(-) A/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1555922652 uncertain-significance, Inborn genetic diseases 19,177,191(-) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1555922904 uncertain-significance, Inborn genetic diseases 19,177,727(-) C/T coding_sequence_variant, intron_variant, synonymous_variant
rs2070255 benign-likely-benign, benign, not specified, not provided 19,177,965(-) A/G 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv3575418 CNV gain 25503493
nsv588213 CNV gain 21841781
nsv588216 CNV gain 21841781
nsv834122 CNV loss 17160897

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)

Additional Variant Information for SLC25A1 Gene

Human Gene Mutation Database (HGMD)
SLC25A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A1

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

Disorders for SLC25A1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SLC25A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined d-2- and l-2-hydroxyglutaric aciduria
  • d2l2ad
myasthenic syndrome, congenital, 23, presynaptic
  • cms23
2-hydroxyglutaric aciduria
  • combined d-2- and l-2-hydroxyglutaric aciduria
presynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, presynaptic
l-2-hydroxyglutaric aciduria
  • l2hga
- 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:23393310, ECO:0000269 PubMed:23561848, ECO:0000269 PubMed:25614306, ECO:0000269 PubMed:27306203, ECO:0000269 PubMed:29031613, ECO:0000269 PubMed:29226520, ECO:0000269 PubMed:29238895}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 23, presynaptic (CMS23) [MIM:618197]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS23 inheritance is autosomal recessive. {ECO:0000269 PubMed:26870663, ECO:0000269 PubMed:29031613}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC25A1

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 SLC25A1: view

No data available for Genatlas for SLC25A1 Gene

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 ML (Genomics 1996) 3 4 23 56
  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 56
  3. Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis. (PMID: 29031613) Majd H … Kunji ERS (Biochimica et biophysica acta. Bioenergetics 2018) 3 4 56
  4. A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. (PMID: 29226520) Cohen I … Birk OS (American journal of medical genetics. Part A 2018) 3 4 56
  5. Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. (PMID: 23393310) Edvardson S … Elpeleg O (Journal of medical genetics 2013) 3 4 56

Products for SLC25A1 Gene

Sources for SLC25A1 Gene