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Entry version 198 (29 Sep 2021)
Sequence version 2 (11 Feb 2002)
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Protein

Tricarboxylate transport protein, mitochondrial

Gene

SLC25A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=7.5 µM for citrate1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P53007

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-70263, Gluconeogenesis
R-HSA-75105, Fatty acyl-CoA biosynthesis

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.29.7.2, the mitochondrial carrier (mc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Tricarboxylate transport protein, mitochondrial
Alternative name(s):
Citrate transport protein
Short name:
CTP
Solute carrier family 25 member 1
Tricarboxylate carrier protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC25A1
Synonyms:SLC20A3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10979, SLC25A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
190315, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P53007

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000100075

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei29 – 46Helical; Name=1Sequence analysisAdd BLAST18
Transmembranei86 – 105Helical; Name=2Sequence analysisAdd BLAST20
Transmembranei129 – 143Helical; Name=3Sequence analysisAdd BLAST15
Transmembranei183 – 202Helical; Name=4Sequence analysisAdd BLAST20
Transmembranei224 – 241Helical; Name=5Sequence analysisAdd BLAST18
Transmembranei278 – 297Helical; Name=6Sequence analysisAdd BLAST20

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08166128A → T in D2L2AD; unknown pathological significance; very mild decrease of citrate transport rates. 1 Publication1
Natural variantiVAR_08166240I → N in D2L2AD; reduced rates of citrate transport. 1 Publication1
Natural variantiVAR_06949045P → L in D2L2AD; severely reduced rates of citrate transport. 3 Publications1
Natural variantiVAR_08166347E → K in D2L2AD; severely reduced rates of citrate transport. 1 PublicationCorresponds to variant dbSNP:rs1555923307Ensembl.1
Natural variantiVAR_08166493G → D in D2L2AD; severely reduced rates of citrate transport. 1 Publication1
Natural variantiVAR_081665130G → D in D2L2AD; severely reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs368647424EnsemblClinVar.1
Natural variantiVAR_069491144E → Q in D2L2AD; abolishes citrate transport. 2 Publications1
Natural variantiVAR_069492167G → R in D2L2AD. 1 Publication1
Natural variantiVAR_069493193S → W in D2L2AD; reduced rates of citrate transport. 3 PublicationsCorresponds to variant dbSNP:rs781925968Ensembl.1
Natural variantiVAR_077511198R → H in D2L2AD; severely reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs1331417017Ensembl.1
Natural variantiVAR_069494202M → T in D2L2AD; reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs782335811Ensembl.1
Natural variantiVAR_081666238N → S in D2L2AD; disease phenotype may include decreased activity of mitochondrial respiratory chain complex V. 1 Publication1
Natural variantiVAR_081668256 – 311Missing in D2L2AD; no protein detected by Western blot in patient fibroblasts; severely reduced rates of citrate transport. 2 PublicationsAdd BLAST56
Natural variantiVAR_081669262C → R in D2L2AD; reduced rates of citrate transport. 1 Publication1
Natural variantiVAR_069495282R → C in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar.1
Natural variantiVAR_069496282R → G in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar.1
Natural variantiVAR_081670282R → H in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905510EnsemblClinVar.1
Natural variantiVAR_069497297Y → C in D2L2AD; reduced rates of citrate transport. 2 Publications1
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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081667247R → Q in CMS23; reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs781908532EnsemblClinVar.1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
6576

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SLC25A1

MalaCards human disease database

More...
MalaCardsi
SLC25A1
MIMi615182, phenotype
618197, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100075

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
356978, D,L-2-hydroxyglutaric aciduria
98914, Presynaptic congenital myasthenic syndromes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35855

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P53007, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB09154, Sodium citrate

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC25A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20141931

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 13MitochondrionBy similarityAdd BLAST13
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001926214 – 311Tricarboxylate transport protein, mitochondrialAdd BLAST298

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei156PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-586
CPTAC-587

Encyclopedia of Proteome Dynamics

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EPDi
P53007

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P53007

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P53007

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P53007

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P53007

PeptideAtlas

More...
PeptideAtlasi
P53007

PRoteomics IDEntifications database

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PRIDEi
P53007

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
56567

Consortium for Top Down Proteomics

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TopDownProteomicsi
P53007

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P53007

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P53007

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P53007

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000100075, Expressed in liver and 232 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P53007, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P53007, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000100075, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
112464, 189 interactors

Protein interaction database and analysis system

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IntActi
P53007, 81 interactors

Molecular INTeraction database

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MINTi
P53007

STRING: functional protein association networks

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STRINGi
9606.ENSP00000215882

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P53007, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati23 – 111Solcar 1Add BLAST89
Repeati122 – 208Solcar 2Add BLAST87
Repeati218 – 303Solcar 3Add BLAST86

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0756, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00550000074856

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_015166_5_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P53007

Identification of Orthologs from Complete Genome Data

More...
OMAi
CPAFIVG

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P53007

TreeFam database of animal gene trees

More...
TreeFami
TF105786

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.50.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002067, Mit_carrier
IPR018108, Mitochondrial_sb/sol_carrier
IPR023395, Mt_carrier_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00153, Mito_carr, 3 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00926, MITOCARRIER

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103506, SSF103506, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50920, SOLCAR, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P53007-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:311
Mass (Da):34,013
Last modified:February 11, 2002 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF1341629924953D6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DP62B4DP62_HUMAN
Solute carrier family 25 (Mitochond...
SLC25A1 hCG_17246
208Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti26G → E in AAB08515 (PubMed:8666394).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08166128A → T in D2L2AD; unknown pathological significance; very mild decrease of citrate transport rates. 1 Publication1
Natural variantiVAR_08166240I → N in D2L2AD; reduced rates of citrate transport. 1 Publication1
Natural variantiVAR_06949045P → L in D2L2AD; severely reduced rates of citrate transport. 3 Publications1
Natural variantiVAR_08166347E → K in D2L2AD; severely reduced rates of citrate transport. 1 PublicationCorresponds to variant dbSNP:rs1555923307Ensembl.1
Natural variantiVAR_08166493G → D in D2L2AD; severely reduced rates of citrate transport. 1 Publication1
Natural variantiVAR_081665130G → D in D2L2AD; severely reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs368647424EnsemblClinVar.1
Natural variantiVAR_069491144E → Q in D2L2AD; abolishes citrate transport. 2 Publications1
Natural variantiVAR_069492167G → R in D2L2AD. 1 Publication1
Natural variantiVAR_069493193S → W in D2L2AD; reduced rates of citrate transport. 3 PublicationsCorresponds to variant dbSNP:rs781925968Ensembl.1
Natural variantiVAR_077511198R → H in D2L2AD; severely reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs1331417017Ensembl.1
Natural variantiVAR_069494202M → T in D2L2AD; reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs782335811Ensembl.1
Natural variantiVAR_081666238N → S in D2L2AD; disease phenotype may include decreased activity of mitochondrial respiratory chain complex V. 1 Publication1
Natural variantiVAR_081667247R → Q in CMS23; reduced rates of citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs781908532EnsemblClinVar.1
Natural variantiVAR_081668256 – 311Missing in D2L2AD; no protein detected by Western blot in patient fibroblasts; severely reduced rates of citrate transport. 2 PublicationsAdd BLAST56
Natural variantiVAR_081669262C → R in D2L2AD; reduced rates of citrate transport. 1 Publication1
Natural variantiVAR_069495282R → C in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar.1
Natural variantiVAR_069496282R → G in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905509EnsemblClinVar.1
Natural variantiVAR_081670282R → H in D2L2AD; abolishes citrate transport. 2 PublicationsCorresponds to variant dbSNP:rs431905510EnsemblClinVar.1
Natural variantiVAR_069497297Y → C in D2L2AD; reduced rates of citrate transport. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS13758.1

Protein sequence database of the Protein Information Resource

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PIRi
G01789

NCBI Reference Sequences

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RefSeqi
NP_005975.1, NM_005984.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000215882; ENSP00000215882; ENSG00000100075

Database of genes from NCBI RefSeq genomes

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GeneIDi
6576

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6576

UCSC genome browser

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UCSCi
uc002zoz.6, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS13758.1
PIRiG01789
RefSeqiNP_005975.1, NM_005984.4

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi112464, 189 interactors
IntActiP53007, 81 interactors
MINTiP53007
STRINGi9606.ENSP00000215882

Chemistry databases

DrugBankiDB09154, Sodium citrate

Protein family/group databases

TCDBi2.A.29.7.2, the mitochondrial carrier (mc) family

PTM databases

iPTMnetiP53007
PhosphoSitePlusiP53007
SwissPalmiP53007

Genetic variation databases

BioMutaiSLC25A1
DMDMi20141931

Proteomic databases

CPTACiCPTAC-586
CPTAC-587
EPDiP53007
jPOSTiP53007
MassIVEiP53007
MaxQBiP53007
PaxDbiP53007
PeptideAtlasiP53007
PRIDEiP53007
ProteomicsDBi56567
TopDownProteomicsiP53007

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
22859, 150 antibodies

The DNASU plasmid repository

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DNASUi
6576

Genome annotation databases

EnsembliENST00000215882; ENSP00000215882; ENSG00000100075
GeneIDi6576
KEGGihsa:6576
UCSCiuc002zoz.6, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6576
DisGeNETi6576

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC25A1
GeneReviewsiSLC25A1
HGNCiHGNC:10979, SLC25A1
HPAiENSG00000100075, Low tissue specificity
MalaCardsiSLC25A1
MIMi190315, gene
615182, phenotype
618197, phenotype
neXtProtiNX_P53007
OpenTargetsiENSG00000100075
Orphaneti356978, D,L-2-hydroxyglutaric aciduria
98914, Presynaptic congenital myasthenic syndromes
PharmGKBiPA35855
VEuPathDBiHostDB:ENSG00000100075

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0756, Eukaryota
GeneTreeiENSGT00550000074856
HOGENOMiCLU_015166_5_1_1
InParanoidiP53007
OMAiCPAFIVG
PhylomeDBiP53007
TreeFamiTF105786

Enzyme and pathway databases

PathwayCommonsiP53007
ReactomeiR-HSA-70263, Gluconeogenesis
R-HSA-75105, Fatty acyl-CoA biosynthesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
6576, 65 hits in 1017 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SLC25A1, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SLC25A1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6576
PharosiP53007, Tbio

Protein Ontology

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PROi
PR:P53007
RNActiP53007, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000100075, Expressed in liver and 232 other tissues
ExpressionAtlasiP53007, baseline and differential
GenevisibleiP53007, HS

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR002067, Mit_carrier
IPR018108, Mitochondrial_sb/sol_carrier
IPR023395, Mt_carrier_dom_sf
PfamiView protein in Pfam
PF00153, Mito_carr, 3 hits
PRINTSiPR00926, MITOCARRIER
SUPFAMiSSF103506, SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920, SOLCAR, 3 hits

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTXTP_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P53007
Secondary accession number(s): A8K8E8, Q9BSK6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 11, 2002
Last modified: September 29, 2021
This is version 198 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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