UniProtKB - P53007 (TXTP_HUMAN)
Protein
Tricarboxylate transport protein, mitochondrial
Gene
SLC25A1
Organism
Homo sapiens (Human)
Status
Functioni
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).1 Publication2 Publications
Kineticsi
- KM=7.5 µM for citrate1 Publication
GO - Molecular functioni
- citrate secondary active transmembrane transporter activity Source: UniProtKB
- citrate transmembrane transporter activity Source: UniProtKB
- tricarboxylic acid transmembrane transporter activity Source: Reactome
GO - Biological processi
- fatty-acyl-CoA biosynthetic process Source: Reactome
- gluconeogenesis Source: Reactome
- mitochondrial citrate transmembrane transport Source: GO_Central
Keywordsi
Biological process | Transport |
Enzyme and pathway databases
PathwayCommonsi | P53007 |
Reactomei | R-HSA-70263, Gluconeogenesis R-HSA-75105, Fatty acyl-CoA biosynthesis |
Protein family/group databases
TCDBi | 2.A.29.7.2, the mitochondrial carrier (mc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Tricarboxylate transport protein, mitochondrialAlternative name(s): Citrate transport protein Short name: CTP Solute carrier family 25 member 1 Tricarboxylate carrier protein |
Gene namesi | Name:SLC25A1 Synonyms:SLC20A3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10979, SLC25A1 |
MIMi | 190315, gene |
neXtProti | NX_P53007 |
VEuPathDBi | HostDB:ENSG00000100075.9 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane By similarity; Multi-pass membrane protein Sequence analysis
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Mitochondrion
- mitochondrial inner membrane Source: Reactome
Nucleus
- nucleus Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 29 – 46 | Helical; Name=1Sequence analysisAdd BLAST | 18 | |
Transmembranei | 86 – 105 | Helical; Name=2Sequence analysisAdd BLAST | 20 | |
Transmembranei | 129 – 143 | Helical; Name=3Sequence analysisAdd BLAST | 15 | |
Transmembranei | 183 – 202 | Helical; Name=4Sequence analysisAdd BLAST | 20 | |
Transmembranei | 224 – 241 | Helical; Name=5Sequence analysisAdd BLAST | 18 | |
Transmembranei | 278 – 297 | Helical; Name=6Sequence analysisAdd BLAST | 20 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD)7 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081661 | 28 | A → T in D2L2AD; unknown pathological significance; very mild decrease of citrate transport rates. 1 Publication | 1 | |
Natural variantiVAR_081662 | 40 | I → N in D2L2AD; reduced rates of citrate transport. 1 Publication | 1 | |
Natural variantiVAR_069490 | 45 | P → L in D2L2AD; severely reduced rates of citrate transport. 3 Publications | 1 | |
Natural variantiVAR_081663 | 47 | E → K in D2L2AD; severely reduced rates of citrate transport. 1 PublicationCorresponds to variant dbSNP:rs1555923307Ensembl. | 1 | |
Natural variantiVAR_081664 | 93 | G → D in D2L2AD; severely reduced rates of citrate transport. 1 Publication | 1 | |
Natural variantiVAR_081665 | 130 | G → D in D2L2AD; severely reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs368647424EnsemblClinVar. | 1 | |
Natural variantiVAR_069491 | 144 | E → Q in D2L2AD; abolishes citrate transport. 2 Publications | 1 | |
Natural variantiVAR_069492 | 167 | G → R in D2L2AD. 1 Publication | 1 | |
Natural variantiVAR_069493 | 193 | S → W in D2L2AD; reduced rates of citrate transport. 3 PublicationsCorresponds to variant dbSNP:rs781925968Ensembl. | 1 | |
Natural variantiVAR_077511 | 198 | R → H in D2L2AD; severely reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs1331417017Ensembl. | 1 | |
Natural variantiVAR_069494 | 202 | M → T in D2L2AD; reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs782335811Ensembl. | 1 | |
Natural variantiVAR_081666 | 238 | N → S in D2L2AD; disease phenotype may include decreased activity of mitochondrial respiratory chain complex V. 1 Publication | 1 | |
Natural variantiVAR_081668 | 256 – 311 | Missing in D2L2AD; no protein detected by Western blot in patient fibroblasts; severely reduced rates of citrate transport. 2 PublicationsAdd BLAST | 56 | |
Natural variantiVAR_081669 | 262 | C → R in D2L2AD; reduced rates of citrate transport. 1 Publication | 1 | |
Natural variantiVAR_069495 | 282 | R → C in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar. | 1 | |
Natural variantiVAR_069496 | 282 | R → G in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar. | 1 | |
Natural variantiVAR_081670 | 282 | R → H in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905510EnsemblClinVar. | 1 | |
Natural variantiVAR_069497 | 297 | Y → C in D2L2AD; reduced rates of citrate transport. 2 Publications | 1 |
Myasthenic syndrome, congenital, 23, presynaptic (CMS23)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081667 | 247 | R → Q in CMS23; reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs781908532EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital myasthenic syndrome, Disease variantOrganism-specific databases
DisGeNETi | 6576 |
GeneReviewsi | SLC25A1 |
MalaCardsi | SLC25A1 |
MIMi | 615182, phenotype 618197, phenotype |
OpenTargetsi | ENSG00000100075 |
Orphaneti | 356978, D,L-2-hydroxyglutaric aciduria 98914, Presynaptic congenital myasthenic syndromes |
PharmGKBi | PA35855 |
Miscellaneous databases
Pharosi | P53007, Tbio |
Chemistry databases
DrugBanki | DB09154, Sodium citrate |
Genetic variation databases
BioMutai | SLC25A1 |
DMDMi | 20141931 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 13 | MitochondrionBy similarityAdd BLAST | 13 | |
ChainiPRO_0000019262 | 14 – 311 | Tricarboxylate transport protein, mitochondrialAdd BLAST | 298 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 156 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
CPTACi | CPTAC-586 CPTAC-587 |
EPDi | P53007 |
jPOSTi | P53007 |
MassIVEi | P53007 |
MaxQBi | P53007 |
PaxDbi | P53007 |
PeptideAtlasi | P53007 |
PRIDEi | P53007 |
ProteomicsDBi | 56567 |
TopDownProteomicsi | P53007 |
PTM databases
iPTMneti | P53007 |
PhosphoSitePlusi | P53007 |
SwissPalmi | P53007 |
Expressioni
Gene expression databases
Bgeei | ENSG00000100075, Expressed in liver and 231 other tissues |
ExpressionAtlasi | P53007, baseline and differential |
Genevisiblei | P53007, HS |
Organism-specific databases
HPAi | ENSG00000100075, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 112464, 179 interactors |
IntActi | P53007, 79 interactors |
MINTi | P53007 |
STRINGi | 9606.ENSP00000215882 |
Miscellaneous databases
RNActi | P53007, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 23 – 111 | Solcar 1Add BLAST | 89 | |
Repeati | 122 – 208 | Solcar 2Add BLAST | 87 | |
Repeati | 218 – 303 | Solcar 3Add BLAST | 86 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Transit peptide, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0756, Eukaryota |
GeneTreei | ENSGT00550000074856 |
HOGENOMi | CLU_015166_5_1_1 |
InParanoidi | P53007 |
OMAi | FLSNKMR |
PhylomeDBi | P53007 |
TreeFami | TF105786 |
Family and domain databases
Gene3Di | 1.50.40.10, 1 hit |
InterProi | View protein in InterPro IPR002067, Mit_carrier IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
PRINTSi | PR00926, MITOCARRIER |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P53007-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MPAPRAPRAL AAAAPASGKA KLTHPGKAIL AGGLAGGIEI CITFPTEYVK
60 70 80 90 100
TQLQLDERSH PPRYRGIGDC VRQTVRSHGV LGLYRGLSSL LYGSIPKAAV
110 120 130 140 150
RFGMFEFLSN HMRDAQGRLD STRGLLCGLG AGVAEAVVVV CPMETIKVKF
160 170 180 190 200
IHDQTSPNPK YRGFFHGVRE IVREQGLKGT YQGLTATVLK QGSNQAIRFF
210 220 230 240 250
VMTSLRNWYR GDNPNKPMNP LITGVFGAIA GAASVFGNTP LDVIKTRMQG
260 270 280 290 300
LEAHKYRNTW DCGLQILKKE GLKAFYKGTV PRLGRVCLDV AIVFVIYDEV
310
VKLLNKVWKT D
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB4DP62 | B4DP62_HUMAN | Solute carrier family 25 (Mitochond... | SLC25A1 hCG_17246 | 208 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 26 | G → E in AAB08515 (PubMed:8666394).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081661 | 28 | A → T in D2L2AD; unknown pathological significance; very mild decrease of citrate transport rates. 1 Publication | 1 | |
Natural variantiVAR_081662 | 40 | I → N in D2L2AD; reduced rates of citrate transport. 1 Publication | 1 | |
Natural variantiVAR_069490 | 45 | P → L in D2L2AD; severely reduced rates of citrate transport. 3 Publications | 1 | |
Natural variantiVAR_081663 | 47 | E → K in D2L2AD; severely reduced rates of citrate transport. 1 PublicationCorresponds to variant dbSNP:rs1555923307Ensembl. | 1 | |
Natural variantiVAR_081664 | 93 | G → D in D2L2AD; severely reduced rates of citrate transport. 1 Publication | 1 | |
Natural variantiVAR_081665 | 130 | G → D in D2L2AD; severely reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs368647424EnsemblClinVar. | 1 | |
Natural variantiVAR_069491 | 144 | E → Q in D2L2AD; abolishes citrate transport. 2 Publications | 1 | |
Natural variantiVAR_069492 | 167 | G → R in D2L2AD. 1 Publication | 1 | |
Natural variantiVAR_069493 | 193 | S → W in D2L2AD; reduced rates of citrate transport. 3 PublicationsCorresponds to variant dbSNP:rs781925968Ensembl. | 1 | |
Natural variantiVAR_077511 | 198 | R → H in D2L2AD; severely reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs1331417017Ensembl. | 1 | |
Natural variantiVAR_069494 | 202 | M → T in D2L2AD; reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs782335811Ensembl. | 1 | |
Natural variantiVAR_081666 | 238 | N → S in D2L2AD; disease phenotype may include decreased activity of mitochondrial respiratory chain complex V. 1 Publication | 1 | |
Natural variantiVAR_081667 | 247 | R → Q in CMS23; reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs781908532EnsemblClinVar. | 1 | |
Natural variantiVAR_081668 | 256 – 311 | Missing in D2L2AD; no protein detected by Western blot in patient fibroblasts; severely reduced rates of citrate transport. 2 PublicationsAdd BLAST | 56 | |
Natural variantiVAR_081669 | 262 | C → R in D2L2AD; reduced rates of citrate transport. 1 Publication | 1 | |
Natural variantiVAR_069495 | 282 | R → C in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar. | 1 | |
Natural variantiVAR_069496 | 282 | R → G in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar. | 1 | |
Natural variantiVAR_081670 | 282 | R → H in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905510EnsemblClinVar. | 1 | |
Natural variantiVAR_069497 | 297 | Y → C in D2L2AD; reduced rates of citrate transport. 2 Publications | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U25147 mRNA Translation: AAB08515.1 L76134 Genomic DNA Translation: AAL40091.1 L75823 mRNA Translation: AAL40090.1 AK292313 mRNA Translation: BAF85002.1 BC004980 mRNA Translation: AAH04980.1 BC008061 mRNA Translation: AAH08061.1 |
CCDSi | CCDS13758.1 |
PIRi | G01789 |
RefSeqi | NP_005975.1, NM_005984.4 |
Genome annotation databases
Ensembli | ENST00000215882; ENSP00000215882; ENSG00000100075 |
GeneIDi | 6576 |
KEGGi | hsa:6576 |
UCSCi | uc002zoz.6, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U25147 mRNA Translation: AAB08515.1 L76134 Genomic DNA Translation: AAL40091.1 L75823 mRNA Translation: AAL40090.1 AK292313 mRNA Translation: BAF85002.1 BC004980 mRNA Translation: AAH04980.1 BC008061 mRNA Translation: AAH08061.1 |
CCDSi | CCDS13758.1 |
PIRi | G01789 |
RefSeqi | NP_005975.1, NM_005984.4 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 112464, 179 interactors |
IntActi | P53007, 79 interactors |
MINTi | P53007 |
STRINGi | 9606.ENSP00000215882 |
Chemistry databases
DrugBanki | DB09154, Sodium citrate |
Protein family/group databases
TCDBi | 2.A.29.7.2, the mitochondrial carrier (mc) family |
PTM databases
iPTMneti | P53007 |
PhosphoSitePlusi | P53007 |
SwissPalmi | P53007 |
Genetic variation databases
BioMutai | SLC25A1 |
DMDMi | 20141931 |
Proteomic databases
CPTACi | CPTAC-586 CPTAC-587 |
EPDi | P53007 |
jPOSTi | P53007 |
MassIVEi | P53007 |
MaxQBi | P53007 |
PaxDbi | P53007 |
PeptideAtlasi | P53007 |
PRIDEi | P53007 |
ProteomicsDBi | 56567 |
TopDownProteomicsi | P53007 |
Protocols and materials databases
Antibodypediai | 22859, 131 antibodies |
DNASUi | 6576 |
Genome annotation databases
Ensembli | ENST00000215882; ENSP00000215882; ENSG00000100075 |
GeneIDi | 6576 |
KEGGi | hsa:6576 |
UCSCi | uc002zoz.6, human |
Organism-specific databases
CTDi | 6576 |
DisGeNETi | 6576 |
GeneCardsi | SLC25A1 |
GeneReviewsi | SLC25A1 |
HGNCi | HGNC:10979, SLC25A1 |
HPAi | ENSG00000100075, Low tissue specificity |
MalaCardsi | SLC25A1 |
MIMi | 190315, gene 615182, phenotype 618197, phenotype |
neXtProti | NX_P53007 |
OpenTargetsi | ENSG00000100075 |
Orphaneti | 356978, D,L-2-hydroxyglutaric aciduria 98914, Presynaptic congenital myasthenic syndromes |
PharmGKBi | PA35855 |
VEuPathDBi | HostDB:ENSG00000100075.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0756, Eukaryota |
GeneTreei | ENSGT00550000074856 |
HOGENOMi | CLU_015166_5_1_1 |
InParanoidi | P53007 |
OMAi | FLSNKMR |
PhylomeDBi | P53007 |
TreeFami | TF105786 |
Enzyme and pathway databases
PathwayCommonsi | P53007 |
Reactomei | R-HSA-70263, Gluconeogenesis R-HSA-75105, Fatty acyl-CoA biosynthesis |
Miscellaneous databases
BioGRID-ORCSi | 6576, 51 hits in 874 CRISPR screens |
ChiTaRSi | SLC25A1, human |
GeneWikii | SLC25A1 |
GenomeRNAii | 6576 |
Pharosi | P53007, Tbio |
PROi | PR:P53007 |
RNActi | P53007, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100075, Expressed in liver and 231 other tissues |
ExpressionAtlasi | P53007, baseline and differential |
Genevisiblei | P53007, HS |
Family and domain databases
Gene3Di | 1.50.40.10, 1 hit |
InterProi | View protein in InterPro IPR002067, Mit_carrier IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
PRINTSi | PR00926, MITOCARRIER |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TXTP_HUMAN | |
Accessioni | P53007Primary (citable) accession number: P53007 Secondary accession number(s): A8K8E8, Q9BSK6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | February 11, 2002 | |
Last modified: | February 10, 2021 | |
This is version 195 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families