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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
External Ids for SLC25A1 Gene
- HGNC: 10979
- Entrez Gene: 6576
- Ensembl: ENSG00000100075
- OMIM: 190315
- UniProtKB: P53007
Previous HGNC Symbols for SLC25A1 Gene
- SLC20A3
Previous GeneCards Identifiers for SLC25A1 Gene
- GC22M016103
- GC22M017537
- GC22M019163
- GC22M002784
Summaries 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 Glucose metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include citrate transmembrane transporter activity. An important paralog of this gene is SLC25A18.
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).
Additional gene information for SLC25A1 Gene
- HGNC(10979)
- Entrez Gene(6576)
- Ensembl(ENSG00000100075)
- OMIM(190315)
- UniProtKB(P53007)
- Open Targets Platform(ENSG00000100075)
- Monarch Initiative
- Search for SLC25A1 at DataMed
- Search for SLC25A1 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A1
- 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:
-
- 22q11.21 by HGNC
- 22q11.21 by Entrez Gene
- 22q11.21 by Ensembl
SLC25A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A8K8E8
- Q9BSK6
Protein attributes for SLC25A1 Gene
- Size:
- 311 amino acids
- Molecular mass:
- 34013 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLC25A1 Gene
Post-translational modifications for SLC25A1 Gene
Other Protein References for SLC25A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- GeneTex Anti-SLC25A1 antibody [N1C1] and Anti-SLC25A1 antibody
- Novus Biologicals Antibodies for SLC25A1
-
Abcam antibodies for SLC25A1
- Invitrogen Antibodies for SLC25A1 (AFLGC-SLC25A1)
Protein Products
-
OriGene Purified Proteins for SLC25A1
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC25A1
- Origene Custom Protein Services for SLC25A1
- Novus Biologicals lysates for SLC25A1
- antibodies-online: Show 5 available Slc25a1 Proteins ranked by validation data
- Compare Top Slc25a1 Proteins
-
Quality Products:
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
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the mitochondrial carrier (TC 2.A.29) family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005347 | ATP transmembrane transporter activity | IEA | -- |
| 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 |
Phenotypes for SLC25A1 Gene
- GenomeRNAi human phenotypes for SLC25A1:
Animal Model Products
-
Taconic Biosciences Mouse Models for SLC25A1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC25A1 - Select products 50% OFF >
- * SLC25A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC25A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC25A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A1
miRNA for SLC25A1 Gene
- miRTarBase miRNAs that target SLC25A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC25A1
- Browse OriGene Inhibitory RNA Products For SLC25A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A1
Clone Products
- Applied Biological Materials (abm): Clones for SLC25A1 - Select products 50% OFF >
- * SLC25A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC25A1
- Addgene plasmids for SLC25A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC25A1
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| extracellular | 4 |
| nucleus | 4 |
| plasma membrane | 3 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC25A1 Gene
Pathways & Interactions for SLC25A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fatty Acyl-CoA Biosynthesis | ||
| 2 | Glucose metabolism |
.46
|
|
| 3 | Metabolism |
.40
|
|
| 4 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
| 5 | Glycosaminoglycan metabolism | ||
Pathways by source for SLC25A1 Gene
8 Reactome pathways for SLC25A1 Gene
Interacting Proteins for SLC25A1 Gene
Selected Interacting proteins:
P53007-TXTP_HUMAN
ENSP00000215882
for SLC25A1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for SLC25A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006094 | gluconeogenesis | TAS | -- |
| GO:0006843 | mitochondrial citrate transmembrane transport | IBA | 21873635 |
| GO:0015867 | ATP transport | IEA | -- |
| GO:0046949 | fatty-acyl-CoA biosynthetic process | TAS | -- |
| GO:0055085 | transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for SLC25A1 Gene
Drugs & Compounds for SLC25A1 Gene
Transcripts for SLC25A1 Gene
mRNA/cDNA for SLC25A1 Gene
- 3 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000215882 1548 nts (view in UCSC)
- ENST00000451283 1514 nts (view in UCSC)
- ENST00000461267 804 nts (view in UCSC)
- ENST00000468824 307 nts (view in UCSC)
- ENST00000470922 1598 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC25A1 - Select products 50% OFF >
- * SLC25A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC25A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC25A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC25A1
- Browse OriGene Inhibitory RNA Products For SLC25A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A1
Clone Products
- Applied Biological Materials (abm): Clones for SLC25A1 - Select products 50% OFF >
- * SLC25A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC25A1
- Addgene plasmids for SLC25A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC25A1
| 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
Expression for SLC25A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A1
SOURCE GeneReport for Unigene cluster for SLC25A1 Gene:
Hs.111024Evidence on tissue expression from TISSUES for SLC25A1 Gene
- Nervous system(4.8)
- Liver(4.6)
- Kidney(4.5)
- Pancreas(3.2)
- Intestine(2.9)
- Skin(2.8)
- Eye(2.5)
- Blood(2.4)
- Muscle(2.4)
- Heart(2.4)
- Lung(2.3)
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
Primer Products
-
OriGene qPCR primer pairs for SLC25A1
-
OriGene qPCR primer pairs and template standards for SLC25A1
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC25A1 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC25A1 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc25a1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC25A1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SLC25A1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC25A1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC25A1 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC25A1 31 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | slc25a1-prov 30 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | MGC76218 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | SLC25A1 (3 of 3) 31 |
|
OneToMany | |
| slc25a1b 30 31 |
|
OneToMany | |||
| slc25a1a 31 |
|
OneToMany | |||
| zgc63578 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG6782 32 |
|
|
|
| sea 31 |
|
OneToOne | |||
| Worm (Caenorhabditis elegans) |
Secernentea | K11H3.3 31 32 |
|
OneToMany | |
| Y37B11A.3 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CTP1 30 31 33 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E18723g 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3482 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8914 30 |
|
- Species where no ortholog for SLC25A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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
Paralogs for SLC25A1 Gene
- SLC25A18 5
- SLC25A13 5
- SLC25A12 5
- SLC25A22 5
- SLC25A21 5
- SLC25A28 5
- SLC25A5 5
- SLC25A25 5
- SLC25A4 5
- SLC25A20 5
- SLC25A38 5
- SLC25A6 5
- SLC25A47 5
- SLC25A45 5
- SLC25A30 5
- UCP2 5
- SLC25A15 5
- SLC25A29 5
- UCP3 5
- SLC25A37 5
- SLC25A24 5
- SLC25A14 5
- SLC25A23 5
- SLC25A31 5
- SLC25A34 5
- UCP1 5
- SLC25A19 5
- SLC25A36 5
- SLC25A2 5
- SLC25A52 5
- SLC25A51 5
- SLC25A42 5
- SLC25A17 5
- SLC25A40 5
- SLC25A16 5
- SLC25A39 5
- SLC25A48 5
- SLC25A33 5
- SLC25A41 5
- SLC25A27 5
- SLC25A26 5
- SLC25A35 5
- SLC25A11 5
- SLC25A3 5
- SLC25A43 5
- SLC25A44 5
- SLC25A53 5
- SLC25A32 5
- ENSG00000262660 5
- ENSG00000285982 5
- SLC25A10 5
(6) SIMAP similar genes for SLC25A1 Gene using alignment to 3 proteins:
- TXTP_HUMAN
- B4DP62_HUMAN
- D9HTE9_HUMAN
Pseudogenes.org Pseudogenes for SLC25A1 Gene
Variants for SLC25A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A1 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 682556 | Likely Benign: not provided | 19,176,263(-) | G/A | INTRON_VARIANT | |
| 689643 | Pathogenic: Combined d-2- and l-2-hydroxyglutaric aciduria | 19,176,420(-) | C/T | SPLICE_DONOR_VARIANT | |
| 709443 | Benign: not provided | 19,176,139(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 729262 | Likely Benign: not provided | 19,176,205(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 729965 | Likely Benign: not provided | 19,178,022(-) | C/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A1 Gene
Disorders for SLC25A1 Gene
(11) MalaCards diseases for SLC25A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| combined d-2- and l-2-hydroxyglutaric aciduria |
|
|
| myasthenic syndrome, congenital, 23, presynaptic |
|
|
| presynaptic congenital myasthenic syndromes |
|
|
| l-2-hydroxyglutaric aciduria |
|
|
| congenital myasthenic syndrome |
|
|
Search SLC25A1 in MalaCards
View complete list of genes associated with diseases
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)
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No data available for Genatlas for SLC25A1 Gene
Publications for SLC25A1 Gene
- 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
- 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
- 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
- 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
- Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. (PMID: 23561848) Nota B … Salomons GS (American journal of human genetics 2013) 3 4
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Products for SLC25A1 Gene
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Sources for SLC25A1 Gene
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