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UniProtKB - P12235 (ADT1_HUMAN)

Entry version 230 (10 Feb 2021)
Sequence version 4 (23 Jan 2007)
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Protein

ADP/ATP translocase 1

Gene

SLC25A4

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

Involved in mitochondrial ADP/ATP transport. Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei80ADPBy similarity1
Binding sitei92ADPBy similarity1
Binding sitei235ADPBy similarity1

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 processHost-virus interaction, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P12235

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1268020, Mitochondrial protein import
R-HSA-180897, Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization
R-HSA-83936, Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane

SIGNOR Signaling Network Open Resource

More...SIGNORi		P12235

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.29.1.2, 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%5Fand%5Ftaxonomy%5Fsection">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:
ADP/ATP translocase 1
Alternative name(s):
ADP,ATP carrier protein 1
ADP,ATP carrier protein, heart/skeletal muscle isoform T1
Adenine nucleotide translocator 1
Short name:
ANT 1
Solute carrier family 25 member 4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SLC25A4
Synonyms:ANT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 4

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:10990, SLC25A4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		103220, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P12235

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000151729.10

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei8 – 37Helical; Name=1By similarityAdd BLAST30
Transmembranei75 – 99Helical; Name=2By similarityAdd BLAST25
Transmembranei110 – 130Helical; Name=3By similarityAdd BLAST21
Transmembranei179 – 199Helical; Name=4By similarityAdd BLAST21
Transmembranei211 – 231Helical; Name=5By similarityAdd BLAST21
Transmembranei274 – 291Helical; Name=6By similarityAdd BLAST18

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

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)7 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
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_03881490A → D in PEOA2; decreased function in ADP transport. 2 Publications1
Natural variantiVAR_02245998L → P in PEOA2; decreased function in ADP transport. 3 PublicationsCorresponds to variant dbSNP:rs104893876EnsemblClinVar.1
Natural variantiVAR_022460104D → G in PEOA2; decreased function in ADP transport. 2 PublicationsCorresponds to variant dbSNP:rs28999114EnsemblClinVar.1
Natural variantiVAR_012111114A → P in PEOA2; decreased function in ADP transport. 3 PublicationsCorresponds to variant dbSNP:rs104893873EnsemblClinVar.1
Natural variantiVAR_012112289V → M in PEOA2. 2 PublicationsCorresponds to variant dbSNP:rs104893874EnsemblClinVar.1
Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type (MTDPS12B)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038815123A → D in MTDPS12B; loss of function in ADP transport. 2 PublicationsCorresponds to variant dbSNP:rs121912683EnsemblClinVar.1
Natural variantiVAR_078073236R → P in MTDPS12B; loss of function in ADP transport. 2 PublicationsCorresponds to variant dbSNP:rs770816416EnsemblClinVar.1
Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type (MTDPS12A)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant mitochondrial disorder characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07807180R → H in MTDPS12A; decreased function in ADP transport. 1 PublicationCorresponds to variant dbSNP:rs886041081EnsemblClinVar.1
Natural variantiVAR_078072235R → G in MTDPS12A; severely decreased function in ADP transport. 1 PublicationCorresponds to variant dbSNP:rs886041082EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease variant, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNET

More...DisGeNETi		291

MalaCards human disease database

More...MalaCardsi		SLC25A4
MIMi609283, phenotype
615418, phenotype
617184, phenotype

Open Targets

More...OpenTargetsi		ENSG00000151729

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

More...Orphaneti		254892, Autosomal dominant progressive external ophthalmoplegia
1369, Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35866

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P12235, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB01736, [3-(Dodecanoylamino)Propyl](Hydroxy)Dimethylammonium
DB00171, ATP
DB02426, Carboxyatractyloside
DB00720, Clodronic acid
DB04178, Di-Stearoyl-3-Sn-Phosphatidylcholine
DB01077, Etidronic acid
DB03429, Tetrastearoyl cardiolipin

DrugCentral

More...DrugCentrali		P12235

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC25A4

Domain mapping of disease mutations (DMDM)

More...DMDMi		113455

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00000905742 – 298ADP/ATP translocase 1Add BLAST297

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 residuei2N-acetylglycine1 Publication1
Modified residuei7PhosphoserineBy similarity1
Modified residuei52N6,N6,N6-trimethyllysineBy similarity1
Modified residuei147N6-succinyllysineBy similarity1
Modified residuei160S-nitrosocysteineBy similarity1
Modified residuei245N6-succinyllysineBy similarity1
Modified residuei272N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein, S-nitrosylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P12235

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P12235

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P12235

MaxQB - The MaxQuant DataBase

More...MaxQBi		P12235

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

More...PaxDbi		P12235

PeptideAtlas

More...PeptideAtlasi		P12235

PRoteomics IDEntifications database

More...PRIDEi		P12235

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		52836

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P12235

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P12235

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P12235

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

More...PhosphoSitePlusi		P12235

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P12235

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in erythrocytes (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000151729, Expressed in left ventricle myocardium and 247 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P12235, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P12235, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000151729, Group enriched (heart muscle, skeletal muscle, tongue)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (By similarity).

Found in a complex with ARL2, ARL2BP and SLC25A4 (By similarity).

Interacts with ARL2BP (By similarity).

By similarity

(Microbial infection) Interacts with HIV-1 Vpr.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106788, 116 interactors

Database of interacting proteins

More...DIPi		DIP-33116N

Protein interaction database and analysis system

More...IntActi		P12235, 44 interactors

Molecular INTeraction database

More...MINTi		P12235

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000281456

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P12235, 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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P12235

Database of comparative protein structure models

More...ModBasei		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>Repeati6 – 98Solcar 1Add BLAST93
Repeati111 – 201Solcar 2Add BLAST91
Repeati212 – 297Solcar 3Add BLAST86

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni235 – 240Important for transport activity1 Publication6

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi235 – 240Nucleotide carrier signature motifBy similarity6

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue.By similarity

<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

Belongs to the mitochondrial carrier (TC 2.A.29) family. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0749, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154622

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P12235

Identification of Orthologs from Complete Genome Data

More...OMAi		LGWIVTT

Database of Orthologous Groups

More...OrthoDBi		870903at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P12235

TreeFam database of animal gene trees

More...TreeFami		TF300743

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.50.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002113, ADT_euk_type
IPR002067, Mit_carrier
IPR018108, Mitochondrial_sb/sol_carrier
IPR023395, Mt_carrier_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR45635, PTHR45635, 1 hit

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		PR00927, ADPTRNSLCASE
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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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

P12235-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGDHAWSFLK DFLAGGVAAA VSKTAVAPIE RVKLLLQVQH ASKQISAEKQ 
        60         70         80         90        100
YKGIIDCVVR IPKEQGFLSF WRGNLANVIR YFPTQALNFA FKDKYKQLFL 
       110        120        130        140        150
GGVDRHKQFW RYFAGNLASG GAAGATSLCF VYPLDFARTR LAADVGKGAA 
       160        170        180        190        200
QREFHGLGDC IIKIFKSDGL RGLYQGFNVS VQGIIIYRAA YFGVYDTAKG 
       210        220        230        240        250
MLPDPKNVHI FVSWMIAQSV TAVAGLVSYP FDTVRRRMMM QSGRKGADIM 
       260        270        280        290 
YTGTVDCWRK IAKDEGAKAF FKGAWSNVLR GMGGAFVLVL YDEIKKYV
Length:298
Mass (Da):33,064
Last modified:January 23, 2007 - v4
<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:i59F0DFAEC4E7CFBB
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
V9GYG0V9GYG0_HUMAN
ADP/ATP translocase 1
SLC25A4
208Annotation 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>

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 conflicti16G → A in AAA61223 (PubMed:2823266).Curated1
Sequence conflicti147 – 149KGA → RR in AAA61223 (PubMed:2823266).Curated3
Sequence conflicti227V → L in AAA61223 (PubMed:2823266).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07807180R → H in MTDPS12A; decreased function in ADP transport. 1 PublicationCorresponds to variant dbSNP:rs886041081EnsemblClinVar.1
Natural variantiVAR_03881490A → D in PEOA2; decreased function in ADP transport. 2 Publications1
Natural variantiVAR_02245998L → P in PEOA2; decreased function in ADP transport. 3 PublicationsCorresponds to variant dbSNP:rs104893876EnsemblClinVar.1
Natural variantiVAR_022460104D → G in PEOA2; decreased function in ADP transport. 2 PublicationsCorresponds to variant dbSNP:rs28999114EnsemblClinVar.1
Natural variantiVAR_012111114A → P in PEOA2; decreased function in ADP transport. 3 PublicationsCorresponds to variant dbSNP:rs104893873EnsemblClinVar.1
Natural variantiVAR_038815123A → D in MTDPS12B; loss of function in ADP transport. 2 PublicationsCorresponds to variant dbSNP:rs121912683EnsemblClinVar.1
Natural variantiVAR_078072235R → G in MTDPS12A; severely decreased function in ADP transport. 1 PublicationCorresponds to variant dbSNP:rs886041082EnsemblClinVar.1
Natural variantiVAR_078073236R → P in MTDPS12B; loss of function in ADP transport. 2 PublicationsCorresponds to variant dbSNP:rs770816416EnsemblClinVar.1
Natural variantiVAR_012112289V → M in PEOA2. 2 PublicationsCorresponds to variant dbSNP:rs104893874EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
J02966 mRNA Translation: AAA61223.1
J04982 Genomic DNA Translation: AAA51736.1
HQ206346 Genomic DNA Translation: ADP92294.1
HQ206347 Genomic DNA Translation: ADP92295.1
HQ206348 Genomic DNA Translation: ADP92296.1
HQ206349 Genomic DNA Translation: ADP92297.1
HQ206350 Genomic DNA Translation: ADP92298.1
HQ206351 Genomic DNA Translation: ADP92299.1
HQ206352 Genomic DNA Translation: ADP92300.1
HQ206353 Genomic DNA Translation: ADP92301.1
HQ206354 Genomic DNA Translation: ADP92302.1
HQ206355 Genomic DNA Translation: ADP92303.1
HQ206356 Genomic DNA Translation: ADP92304.1
HQ206357 Genomic DNA Translation: ADP92305.1
HQ206358 Genomic DNA Translation: ADP92306.1
HQ206359 Genomic DNA Translation: ADP92307.1
HQ206360 Genomic DNA Translation: ADP92308.1
HQ206361 Genomic DNA Translation: ADP92309.1
HQ206362 Genomic DNA Translation: ADP92310.1
HQ206363 Genomic DNA Translation: ADP92311.1
HQ206364 Genomic DNA Translation: ADP92312.1
HQ206365 Genomic DNA Translation: ADP92313.1
HQ206366 Genomic DNA Translation: ADP92314.1
HQ206367 Genomic DNA Translation: ADP92315.1
HQ206368 Genomic DNA Translation: ADP92316.1
HQ206369 Genomic DNA Translation: ADP92317.1
HQ206370 Genomic DNA Translation: ADP92318.1
HQ206371 Genomic DNA Translation: ADP92319.1
HQ206372 Genomic DNA Translation: ADP92320.1
HQ206373 Genomic DNA Translation: ADP92321.1
HQ206374 Genomic DNA Translation: ADP92322.1
HQ206375 Genomic DNA Translation: ADP92323.1
HQ206376 Genomic DNA Translation: ADP92324.1
HQ206377 Genomic DNA Translation: ADP92325.1
HQ206378 Genomic DNA Translation: ADP92326.1
HQ206379 Genomic DNA Translation: ADP92327.1
HQ206380 Genomic DNA Translation: ADP92328.1
HQ206381 Genomic DNA Translation: ADP92329.1
HQ206382 Genomic DNA Translation: ADP92330.1
HQ206383 Genomic DNA Translation: ADP92331.1
HQ206384 Genomic DNA Translation: ADP92332.1
HQ206385 Genomic DNA Translation: ADP92333.1
CH471056 Genomic DNA Translation: EAX04655.1
CH471056 Genomic DNA Translation: EAX04656.1
BC008664 mRNA Translation: AAH08664.1
BC061589 mRNA Translation: AAH61589.1
BC063643 mRNA Translation: AAH63643.1
J03593 mRNA Translation: AAA36751.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34114.1

Protein sequence database of the Protein Information Resource

More...PIRi		A44778

NCBI Reference Sequences

More...RefSeqi		NP_001142.2, NM_001151.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000281456; ENSP00000281456; ENSG00000151729

Database of genes from NCBI RefSeq genomes

More...GeneIDi		291

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:291

UCSC genome browser

More...UCSCi		uc003ixd.4, 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
J02966 mRNA Translation: AAA61223.1
J04982 Genomic DNA Translation: AAA51736.1
HQ206346 Genomic DNA Translation: ADP92294.1
HQ206347 Genomic DNA Translation: ADP92295.1
HQ206348 Genomic DNA Translation: ADP92296.1
HQ206349 Genomic DNA Translation: ADP92297.1
HQ206350 Genomic DNA Translation: ADP92298.1
HQ206351 Genomic DNA Translation: ADP92299.1
HQ206352 Genomic DNA Translation: ADP92300.1
HQ206353 Genomic DNA Translation: ADP92301.1
HQ206354 Genomic DNA Translation: ADP92302.1
HQ206355 Genomic DNA Translation: ADP92303.1
HQ206356 Genomic DNA Translation: ADP92304.1
HQ206357 Genomic DNA Translation: ADP92305.1
HQ206358 Genomic DNA Translation: ADP92306.1
HQ206359 Genomic DNA Translation: ADP92307.1
HQ206360 Genomic DNA Translation: ADP92308.1
HQ206361 Genomic DNA Translation: ADP92309.1
HQ206362 Genomic DNA Translation: ADP92310.1
HQ206363 Genomic DNA Translation: ADP92311.1
HQ206364 Genomic DNA Translation: ADP92312.1
HQ206365 Genomic DNA Translation: ADP92313.1
HQ206366 Genomic DNA Translation: ADP92314.1
HQ206367 Genomic DNA Translation: ADP92315.1
HQ206368 Genomic DNA Translation: ADP92316.1
HQ206369 Genomic DNA Translation: ADP92317.1
HQ206370 Genomic DNA Translation: ADP92318.1
HQ206371 Genomic DNA Translation: ADP92319.1
HQ206372 Genomic DNA Translation: ADP92320.1
HQ206373 Genomic DNA Translation: ADP92321.1
HQ206374 Genomic DNA Translation: ADP92322.1
HQ206375 Genomic DNA Translation: ADP92323.1
HQ206376 Genomic DNA Translation: ADP92324.1
HQ206377 Genomic DNA Translation: ADP92325.1
HQ206378 Genomic DNA Translation: ADP92326.1
HQ206379 Genomic DNA Translation: ADP92327.1
HQ206380 Genomic DNA Translation: ADP92328.1
HQ206381 Genomic DNA Translation: ADP92329.1
HQ206382 Genomic DNA Translation: ADP92330.1
HQ206383 Genomic DNA Translation: ADP92331.1
HQ206384 Genomic DNA Translation: ADP92332.1
HQ206385 Genomic DNA Translation: ADP92333.1
CH471056 Genomic DNA Translation: EAX04655.1
CH471056 Genomic DNA Translation: EAX04656.1
BC008664 mRNA Translation: AAH08664.1
BC061589 mRNA Translation: AAH61589.1
BC063643 mRNA Translation: AAH63643.1
J03593 mRNA Translation: AAA36751.1
CCDSiCCDS34114.1
PIRiA44778
RefSeqiNP_001142.2, NM_001151.3

3D structure databases

SMRiP12235
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi106788, 116 interactors
DIPiDIP-33116N
IntActiP12235, 44 interactors
MINTiP12235
STRINGi9606.ENSP00000281456

Chemistry databases

DrugBankiDB01736, [3-(Dodecanoylamino)Propyl](Hydroxy)Dimethylammonium
DB00171, ATP
DB02426, Carboxyatractyloside
DB00720, Clodronic acid
DB04178, Di-Stearoyl-3-Sn-Phosphatidylcholine
DB01077, Etidronic acid
DB03429, Tetrastearoyl cardiolipin
DrugCentraliP12235

Protein family/group databases

TCDBi2.A.29.1.2, the mitochondrial carrier (mc) family

PTM databases

iPTMnetiP12235
MetOSiteiP12235
PhosphoSitePlusiP12235
SwissPalmiP12235

Genetic variation databases

BioMutaiSLC25A4
DMDMi113455

Proteomic databases

EPDiP12235
jPOSTiP12235
MassIVEiP12235
MaxQBiP12235
PaxDbiP12235
PeptideAtlasiP12235
PRIDEiP12235
ProteomicsDBi52836
TopDownProteomicsiP12235

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		28911, 152 antibodies

The DNASU plasmid repository

More...DNASUi		291

Genome annotation databases

EnsembliENST00000281456; ENSP00000281456; ENSG00000151729
GeneIDi291
KEGGihsa:291
UCSCiuc003ixd.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		291
DisGeNETi291

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC25A4
HGNCiHGNC:10990, SLC25A4
HPAiENSG00000151729, Group enriched (heart muscle, skeletal muscle, tongue)
MalaCardsiSLC25A4
MIMi103220, gene
609283, phenotype
615418, phenotype
617184, phenotype
neXtProtiNX_P12235
OpenTargetsiENSG00000151729
Orphaneti254892, Autosomal dominant progressive external ophthalmoplegia
1369, Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
PharmGKBiPA35866
VEuPathDBiHostDB:ENSG00000151729.10

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0749, Eukaryota
GeneTreeiENSGT00940000154622
InParanoidiP12235
OMAiLGWIVTT
OrthoDBi870903at2759
PhylomeDBiP12235
TreeFamiTF300743

Enzyme and pathway databases

PathwayCommonsiP12235
ReactomeiR-HSA-1268020, Mitochondrial protein import
R-HSA-180897, Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization
R-HSA-83936, Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
SIGNORiP12235

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		291, 6 hits in 874 CRISPR screens

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

More...ChiTaRSi		SLC25A4, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SLC25A4

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

More...GenomeRNAii		291
PharosiP12235, Tbio

Protein Ontology

More...PROi		PR:P12235
RNActiP12235, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000151729, Expressed in left ventricle myocardium and 247 other tissues
ExpressionAtlasiP12235, baseline and differential
GenevisibleiP12235, HS

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR002113, ADT_euk_type
IPR002067, Mit_carrier
IPR018108, Mitochondrial_sb/sol_carrier
IPR023395, Mt_carrier_dom_sf
PANTHERiPTHR45635, PTHR45635, 1 hit
PfamiView protein in Pfam
PF00153, Mito_carr, 3 hits
PRINTSiPR00927, ADPTRNSLCASE
PR00926, MITOCARRIER
SUPFAMiSSF103506, SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920, SOLCAR, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiADT1_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: P12235
Secondary accession number(s): D3DP59
<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%5Fand%5Fisoforms">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, 1989
Last sequence update: January 23, 2007
Last modified: February 10, 2021
This is version 230 of the entry and version 4 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

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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
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