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Protein

Phosphate carrier protein, mitochondrial

Gene

SLC25A3

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

Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H+. May play a role regulation of the mitochondrial permeability transition pore (mPTP).

<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

  • inorganic phosphate transmembrane transporter activity Source: GO_Central
  • phosphate:proton symporter activity Source: ProtInc
  • protein-containing complex binding Source: MGI

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 processSymport, Transport

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.29.4.2 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:
Phosphate carrier protein, mitochondrial
Alternative name(s):
Phosphate transport protein
Short name:
PTP
Solute carrier family 25 member 3
<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:SLC25A3
Synonyms:PHC
ORF Names:OK/SW-cl.48
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000075415.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10989 SLC25A3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600370 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q00325

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini50 – 63Mitochondrial intermembraneSequence analysisAdd BLAST14
<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>Transmembranei64 – 86Helical; Name=1Sequence analysisAdd BLAST23
Topological domaini87 – 121Mitochondrial matrixSequence analysisAdd BLAST35
Transmembranei122 – 141Helical; Name=2Sequence analysisAdd BLAST20
Topological domaini142 – 161Mitochondrial intermembraneSequence analysisAdd BLAST20
Transmembranei162 – 183Helical; Name=3Sequence analysisAdd BLAST22
Topological domaini184 – 218Mitochondrial matrixSequence analysisAdd BLAST35
Transmembranei219 – 238Helical; Name=4Sequence analysisAdd BLAST20
Topological domaini239 – 261Mitochondrial intermembraneSequence analysisAdd BLAST23
Transmembranei262 – 284Helical; Name=5Sequence analysisAdd BLAST23
Topological domaini285 – 314Mitochondrial matrixSequence analysisAdd BLAST30
Transmembranei315 – 333Helical; Name=6Sequence analysisAdd BLAST19
Topological domaini334 – 362Mitochondrial intermembraneSequence analysisAdd BLAST29

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

Mitochondrial phosphate carrier deficiency (MPCD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionFatal disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life.
See also OMIM:610773
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_03285072G → E in MPCD. 1 PublicationCorresponds to variant dbSNP:rs104894375EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
5250

MalaCards human disease database

More...
MalaCardsi
SLC25A3
MIMi610773 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000075415

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

More...
Orphaneti
91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35865

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC25A3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
730052

<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 – 49MitochondrionBy similarityAdd BLAST49
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001925650 – 362Phosphate carrier protein, mitochondrialAdd BLAST313

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 residuei99N6-acetyllysineCombined sources1
Modified residuei112N6-methyllysineCombined sources1
Modified residuei196PhosphotyrosineCombined sources1
Modified residuei209N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q00325

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q00325

MaxQB - The MaxQuant DataBase

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MaxQBi
Q00325

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

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PaxDbi
Q00325

PeptideAtlas

More...
PeptideAtlasi
Q00325

PRoteomics IDEntifications database

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PRIDEi
Q00325

ProteomicsDB human proteome resource

More...
ProteomicsDBi
57843
57844 [Q00325-2]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q00325-1 [Q00325-1]
Q00325-2 [Q00325-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q00325

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

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PhosphoSitePlusi
Q00325

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q00325

<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

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Bgeei
ENSG00000075415 Expressed in 233 organ(s), highest expression level in left ventricle myocardium

CleanEx database of gene expression profiles

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CleanExi
HS_SLC25A3

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q00325 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q00325 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA045709

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PPIF; the interaction is impaired by CsA.By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111269, 161 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q00325

Protein interaction database and analysis system

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IntActi
Q00325, 60 interactors

Molecular INTeraction database

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MINTi
Q00325

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000228318

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q00325

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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>Repeati63 – 147Solcar 1Add BLAST85
Repeati160 – 244Solcar 2Add BLAST85
Repeati261 – 339Solcar 3Add BLAST79

<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

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eggNOGi
KOG0767 Eukaryota
ENOG410XPST LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000008708

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000164438

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG024440

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q00325

KEGG Orthology (KO)

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KOi
K15102

Identification of Orthologs from Complete Genome Data

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OMAi
GFQWWIY

Database of Orthologous Groups

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OrthoDBi
963446at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q00325

TreeFam database of animal gene trees

More...
TreeFami
TF314119

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.50.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR040062 Mitochondrial_carrier_protein
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR24089 PTHR24089, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00153 Mito_carr, 3 hits

Superfamily database of structural and functional annotation

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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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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 describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q00325-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MFSSVAHLAR ANPFNTPHLQ LVHDGLGDLR SSSPGPTGQP RRPRNLAAAA
60 70 80 90 100
VEEQYSCDYG SGRFFILCGL GGIISCGTTH TALVPLDLVK CRMQVDPQKY
110 120 130 140 150
KGIFNGFSVT LKEDGVRGLA KGWAPTFLGY SMQGLCKFGF YEVFKVLYSN
160 170 180 190 200
MLGEENTYLW RTSLYLAASA SAEFFADIAL APMEAAKVRI QTQPGYANTL
210 220 230 240 250
RDAAPKMYKE EGLKAFYKGV APLWMRQIPY TMMKFACFER TVEALYKFVV
260 270 280 290 300
PKPRSECSKP EQLVVTFVAG YIAGVFCAIV SHPADSVVSV LNKEKGSSAS
310 320 330 340 350
LVLKRLGFKG VWKGLFARII MIGTLTALQW FIYDSVKVYF RLPRPPPPEM
360
PESLKKKLGL TQ
Length:362
Mass (Da):40,095
Last modified:February 1, 1995 - 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:i78714C85931B22D5
GO
Isoform B (identifier: Q00325-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     54-83: QYSCDYGSGRFFILCGLGGIISCGTTHTAL → YSCEFGSAKYYALCGFGGVLSCGLTHTAV

Show »
Length:361
Mass (Da):39,959
Checksum:i43AD380B15553DA6
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 are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VWR4F8VWR4_HUMAN
Phosphate carrier protein, mitochon...
SLC25A3
154Annotation score:

Annotation score:2 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>
F8VVM2F8VVM2_HUMAN
Phosphate carrier protein, mitochon...
SLC25A3
324Annotation score:

Annotation score:2 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>
F8VZL5F8VZL5_HUMAN
Phosphate carrier protein, mitochon...
SLC25A3
153Annotation score:

Annotation score:2 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>
F8VWQ0F8VWQ0_HUMAN
Phosphate carrier protein, mitochon...
SLC25A3
156Annotation score:

Annotation score:2 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>
F8VY00F8VY00_HUMAN
Phosphate carrier protein, mitochon...
SLC25A3
104Annotation 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>
F8VYH5F8VYH5_HUMAN
Phosphate carrier protein, mitochon...
SLC25A3
122Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03285072G → E in MPCD. 1 PublicationCorresponds to variant dbSNP:rs104894375EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00326954 – 83QYSCD…THTAL → YSCEFGSAKYYALCGFGGVL SCGLTHTAV in isoform B. 3 PublicationsAdd BLAST30

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
X77337 Genomic DNA Translation: CAB56611.1
X77337 Genomic DNA Translation: CAB56612.1
X60036 mRNA Translation: CAA42641.1
AB064666 mRNA Translation: BAB93517.1
AK092689 mRNA Translation: BAG52596.1
CH471054 Genomic DNA Translation: EAW97595.1
CH471054 Genomic DNA Translation: EAW97597.1
BC000998 mRNA Translation: AAH00998.1
BC001328 mRNA Translation: AAH01328.1
BC003504 mRNA Translation: AAH03504.1
BC004345 mRNA Translation: AAH04345.1
BC006455 mRNA Translation: AAH06455.1
BC011574 mRNA Translation: AAH11574.1
BC011641 mRNA Translation: AAH11641.1
BC014019 mRNA Translation: AAH14019.1
BC015379 mRNA Translation: AAH15379.2
BC051367 mRNA Translation: AAH51367.2

The Consensus CDS (CCDS) project

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CCDSi
CCDS9065.1 [Q00325-2]
CCDS9066.1 [Q00325-1]

Protein sequence database of the Protein Information Resource

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PIRi
A53737
B53737

NCBI Reference Sequences

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RefSeqi
NP_002626.1, NM_002635.3 [Q00325-2]
NP_005879.1, NM_005888.3 [Q00325-1]
NP_998776.1, NM_213611.2 [Q00325-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.290404

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000188376; ENSP00000188376; ENSG00000075415 [Q00325-2]
ENST00000228318; ENSP00000228318; ENSG00000075415 [Q00325-1]
ENST00000401722; ENSP00000383898; ENSG00000075415 [Q00325-2]
ENST00000549338; ENSP00000447740; ENSG00000075415 [Q00325-2]
ENST00000551917; ENSP00000447310; ENSG00000075415 [Q00325-1]
ENST00000552981; ENSP00000448708; ENSG00000075415 [Q00325-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5250

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5250

UCSC genome browser

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UCSCi
uc001tfm.4 human [Q00325-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
X77337 Genomic DNA Translation: CAB56611.1
X77337 Genomic DNA Translation: CAB56612.1
X60036 mRNA Translation: CAA42641.1
AB064666 mRNA Translation: BAB93517.1
AK092689 mRNA Translation: BAG52596.1
CH471054 Genomic DNA Translation: EAW97595.1
CH471054 Genomic DNA Translation: EAW97597.1
BC000998 mRNA Translation: AAH00998.1
BC001328 mRNA Translation: AAH01328.1
BC003504 mRNA Translation: AAH03504.1
BC004345 mRNA Translation: AAH04345.1
BC006455 mRNA Translation: AAH06455.1
BC011574 mRNA Translation: AAH11574.1
BC011641 mRNA Translation: AAH11641.1
BC014019 mRNA Translation: AAH14019.1
BC015379 mRNA Translation: AAH15379.2
BC051367 mRNA Translation: AAH51367.2
CCDSiCCDS9065.1 [Q00325-2]
CCDS9066.1 [Q00325-1]
PIRiA53737
B53737
RefSeqiNP_002626.1, NM_002635.3 [Q00325-2]
NP_005879.1, NM_005888.3 [Q00325-1]
NP_998776.1, NM_213611.2 [Q00325-2]
UniGeneiHs.290404

3D structure databases

ProteinModelPortaliQ00325
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111269, 161 interactors
CORUMiQ00325
IntActiQ00325, 60 interactors
MINTiQ00325
STRINGi9606.ENSP00000228318

Protein family/group databases

TCDBi2.A.29.4.2 the mitochondrial carrier (mc) family

PTM databases

iPTMnetiQ00325
PhosphoSitePlusiQ00325
SwissPalmiQ00325

Polymorphism and mutation databases

BioMutaiSLC25A3
DMDMi730052

Proteomic databases

EPDiQ00325
jPOSTiQ00325
MaxQBiQ00325
PaxDbiQ00325
PeptideAtlasiQ00325
PRIDEiQ00325
ProteomicsDBi57843
57844 [Q00325-2]
TopDownProteomicsiQ00325-1 [Q00325-1]
Q00325-2 [Q00325-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
5250
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000188376; ENSP00000188376; ENSG00000075415 [Q00325-2]
ENST00000228318; ENSP00000228318; ENSG00000075415 [Q00325-1]
ENST00000401722; ENSP00000383898; ENSG00000075415 [Q00325-2]
ENST00000549338; ENSP00000447740; ENSG00000075415 [Q00325-2]
ENST00000551917; ENSP00000447310; ENSG00000075415 [Q00325-1]
ENST00000552981; ENSP00000448708; ENSG00000075415 [Q00325-2]
GeneIDi5250
KEGGihsa:5250
UCSCiuc001tfm.4 human [Q00325-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5250
DisGeNETi5250
EuPathDBiHostDB:ENSG00000075415.12

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC25A3
HGNCiHGNC:10989 SLC25A3
HPAiHPA045709
MalaCardsiSLC25A3
MIMi600370 gene
610773 phenotype
neXtProtiNX_Q00325
OpenTargetsiENSG00000075415
Orphaneti91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome
PharmGKBiPA35865

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0767 Eukaryota
ENOG410XPST LUCA
GeneTreeiENSGT00390000008708
HOGENOMiHOG000164438
HOVERGENiHBG024440
InParanoidiQ00325
KOiK15102
OMAiGFQWWIY
OrthoDBi963446at2759
PhylomeDBiQ00325
TreeFamiTF314119

Miscellaneous databases

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

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ChiTaRSi
SLC25A3 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SLC25A3

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

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GenomeRNAii
5250

Protein Ontology

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PROi
PR:Q00325

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000075415 Expressed in 233 organ(s), highest expression level in left ventricle myocardium
CleanExiHS_SLC25A3
ExpressionAtlasiQ00325 baseline and differential
GenevisibleiQ00325 HS

Family and domain databases

Gene3Di1.50.40.10, 2 hits
InterProiView protein in InterPro
IPR040062 Mitochondrial_carrier_protein
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PANTHERiPTHR24089 PTHR24089, 1 hit
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<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 nameiMPCP_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: Q00325
Secondary accession number(s): B3KS34, Q7Z7N7, Q96A03
<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: December 1, 1992
Last sequence update: February 1, 1995
Last modified: January 16, 2019
This is version 192 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
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