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UniProtKB - O75746 (CMC1_HUMAN)

Entry version 201 (25 May 2022)
Sequence version 2 (23 Sep 2008)
Previous versions | rss
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Protein

Calcium-binding mitochondrial carrier protein Aralar1

Gene

SLC25A12

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

Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934).

May have a function in the urea cycle (PubMed:11566871).

2 Publications

Miscellaneous

Binds to one calcium ion with high affinity.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi65Calcium 1Combined sources1 Publication1
Metal bindingi67Calcium 1Combined sources1 Publication1
Metal bindingi69Calcium 1Combined sources1
Metal bindingi71Calcium 1; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi76Calcium 1Combined sources1 Publication1
Metal bindingi99Calcium 2Curated1
Metal bindingi101Calcium 2Curated1
Metal bindingi103Calcium 2Curated1
Metal bindingi105Calcium 2Curated1
Metal bindingi170Calcium 3PROSITE-ProRule annotation1
Metal bindingi172Calcium 3PROSITE-ProRule annotation1
Metal bindingi174Calcium 3PROSITE-ProRule annotation1
Metal bindingi176Calcium 3PROSITE-ProRule annotation1
Metal bindingi181Calcium 3PROSITE-ProRule annotation1

<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 processTransport
LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O75746

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1268020, Mitochondrial protein import
R-HSA-70263, Gluconeogenesis
R-HSA-8963693, Aspartate and asparagine metabolism

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O75746

SIGNOR Signaling Network Open Resource

More...SIGNORi		O75746

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.29.14.1, 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:
Calcium-binding mitochondrial carrier protein Aralar1
Alternative name(s):
Mitochondrial aspartate glutamate carrier 1
Solute carrier family 25 member 12
<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:SLC25A12
Synonyms:ARALAR1
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:10982, SLC25A12

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603667, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75746

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000115840

<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%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>Transmembranei330 – 347Helical; Name=11 PublicationAdd BLAST18
Transmembranei391 – 410Helical; Name=21 PublicationAdd BLAST20
Transmembranei434 – 447Helical; Name=31 PublicationAdd BLAST14
Transmembranei483 – 502Helical; Name=41 PublicationAdd BLAST20
Transmembranei522 – 539Helical; Name=51 PublicationAdd BLAST18
Transmembranei579 – 598Helical; Name=61 PublicationAdd 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

Developmental and epileptic encephalopathy 39 (DEE39)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive.
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_071976353R → Q in DEE39; significant loss in ability to transport aspartate or glutamate. 1 PublicationCorresponds to variant dbSNP:rs886037851EnsemblClinVar.1
Natural variantiVAR_063253590Q → R in DEE39; the mutant protein is unable to transport aspartate or glutamate although it is able to integrate normally into the inner mitochondrial membrane. 1 PublicationCorresponds to variant dbSNP:rs121434396EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		8604

MalaCards human disease database

More...MalaCardsi		SLC25A12
MIMi612949, phenotype

Open Targets

More...OpenTargetsi		ENSG00000115840

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

More...Orphaneti		353217, Epileptic encephalopathy with global cerebral demyelination

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35858

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75746, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00128, Aspartic acid

DrugCentral

More...DrugCentrali		O75746

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC25A12

<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 methionineiRemovedCombined sources1 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_00000905982 – 678Calcium-binding mitochondrial carrier protein Aralar1Add BLAST677

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-acetylalanineCombined sources1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75746

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75746

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75746

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75746

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

More...PaxDbi		O75746

PeptideAtlas

More...PeptideAtlasi		O75746

PRoteomics IDEntifications database

More...PRIDEi		O75746

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3583
50177 [O75746-1]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O75746, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75746

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

More...PhosphoSitePlusi		O75746

SwissPalm database of S-palmitoylation events

More...SwissPalmi		O75746

<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 predominantly in the heart and skeletal muscle, weakly in brain and kidney.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000115840, Expressed in muscle of leg and 239 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75746, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75746, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000115840, Tissue enhanced (skeletal)

<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 (via N-terminus).

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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114164, 223 interactors

Protein interaction database and analysis system

More...IntActi		O75746, 61 interactors

Molecular INTeraction database

More...MINTi		O75746

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000388658

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75746, 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

Secondary structure

1678
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		O75746

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

More...SMRi		O75746

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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 <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini65 – 76EF-hand 1CuratedAdd BLAST12
Domaini86 – 121EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini125 – 155EF-hand 3CuratedAdd BLAST31
Domaini157 – 192EF-hand 4PROSITE-ProRule annotationAdd BLAST36
<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>Repeati324 – 416Solcar 1PROSITE-ProRule annotationAdd BLAST93
Repeati424 – 508Solcar 2PROSITE-ProRule annotationAdd BLAST85
Repeati516 – 604Solcar 3PROSITE-ProRule annotationAdd BLAST89

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>Regioni2 – 294N-terminal domain1 PublicationAdd BLAST293
Regioni295 – 310Linker loop domain1 PublicationAdd BLAST16
Regioni320 – 612Carrier domain1 PublicationAdd BLAST293
Regioni613 – 675C-terminal domain1 PublicationAdd BLAST63

<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

Upon calcium binding, the EF-hand-containing regulatory N-terminal domain binds to the C-terminal domain, opening a vestibule which allows the substrates to be translocated through the carrier domain (PubMed:25410934). In the absence of calcium, the linker loop domain may close the vestibule, which may prevent substrates from entering the carrier domain (PubMed:25410934).1 Publication

<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		KOG0751, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155963

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_014931_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75746

Identification of Orthologs from Complete Genome Data

More...OMAi		DWDCEWA

Database of Orthologous Groups

More...OrthoDBi		1007928at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75746

TreeFam database of animal gene trees

More...TreeFami		TF313209

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
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
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

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00054, EFh, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF103506, SSF103506, 1 hit
SSF47473, SSF47473, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00018, EF_HAND_1, 1 hit
PS50222, EF_HAND_2, 2 hits
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>Sequences (2+)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 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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75746-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAVKVQTTKR GDPHELRNIF LQYASTEVDG ERYMTPEDFV QRYLGLYNDP 
        60         70         80         90        100
NSNPKIVQLL AGVADQTKDG LISYQEFLAF ESVLCAPDSM FIVAFQLFDK 
       110        120        130        140        150
SGNGEVTFEN VKEIFGQTII HHHIPFNWDC EFIRLHFGHN RKKHLNYTEF 
       160        170        180        190        200
TQFLQELQLE HARQAFALKD KSKSGMISGL DFSDIMVTIR SHMLTPFVEE 
       210        220        230        240        250
NLVSAAGGSI SHQVSFSYFN AFNSLLNNME LVRKIYSTLA GTRKDVEVTK 
       260        270        280        290        300
EEFAQSAIRY GQVTPLEIDI LYQLADLYNA SGRLTLADIE RIAPLAEGAL 
       310        320        330        340        350
PYNLAELQRQ QSPGLGRPIW LQIAESAYRF TLGSVAGAVG ATAVYPIDLV 
       360        370        380        390        400
KTRMQNQRGS GSVVGELMYK NSFDCFKKVL RYEGFFGLYR GLIPQLIGVA 
       410        420        430        440        450
PEKAIKLTVN DFVRDKFTRR DGSVPLPAEV LAGGCAGGSQ VIFTNPLEIV 
       460        470        480        490        500
KIRLQVAGEI TTGPRVSALN VLRDLGIFGL YKGAKACFLR DIPFSAIYFP 
       510        520        530        540        550
VYAHCKLLLA DENGHVGGLN LLAAGAMAGV PAASLVTPAD VIKTRLQVAA 
       560        570        580        590        600
RAGQTTYSGV IDCFRKILRE EGPSAFWKGT AARVFRSSPQ FGVTLVTYEL 
       610        620        630        640        650
LQRWFYIDFG GLKPAGSEPT PKSRIADLPP ANPDHIGGYR LATATFAGIE 
       660        670 
NKFGLYLPKF KSPSVAVVQP KAAVAATQ
Length:678
Mass (Da):74,762
Last modified:September 23, 2008 - 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:iD00A7D3D4244539F
GO
Isoform 2 (identifier: O75746-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-108: MAVKVQTTKR...DKSGNGEVTF → M

Show »
Length:571
Mass (Da):62,720
Checksum:i76841A88D6370748
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DGK6B4DGK6_HUMAN
Calcium-binding mitochondrial carri...
SLC25A12
210Annotation 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>
H0YFB2H0YFB2_HUMAN
Calcium-binding mitochondrial carri...
SLC25A12
175Annotation 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>
F8W9J0F8W9J0_HUMAN
Calcium-binding mitochondrial carri...
SLC25A12
87Annotation 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 conflicti596 – 597VT → AH in CAA74834 (PubMed:9722566).Curated2
Sequence conflicti600L → V in CAA74834 (PubMed:9722566).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071976353R → Q in DEE39; significant loss in ability to transport aspartate or glutamate. 1 PublicationCorresponds to variant dbSNP:rs886037851EnsemblClinVar.1
Natural variantiVAR_047917473R → Q. Corresponds to variant dbSNP:rs35565687EnsemblClinVar.1
Natural variantiVAR_063253590Q → R in DEE39; the mutant protein is unable to transport aspartate or glutamate although it is able to integrate normally into the inner mitochondrial membrane. 1 PublicationCorresponds to variant dbSNP:rs121434396EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0544691 – 108MAVKV…GEVTF → M in isoform 2. 1 PublicationAdd BLAST108

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
Y14494 mRNA Translation: CAA74834.1
AJ496568 mRNA Translation: CAD43090.1
AK091071 mRNA Translation: BAG52276.1
AC015976 Genomic DNA No translation available.
AC068039 Genomic DNA Translation: AAY24134.1
AC114745 Genomic DNA No translation available.
CH471058 Genomic DNA Translation: EAX11196.1
BC016932 mRNA Translation: AAH16932.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33327.1 [O75746-1]

NCBI Reference Sequences

More...RefSeqi		NP_003696.2, NM_003705.4 [O75746-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000422440.7; ENSP00000388658.2; ENSG00000115840.14

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8604

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8604

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000422440.7; ENSP00000388658.2; NM_003705.5; NP_003696.2

UCSC genome browser

More...UCSCi		uc002uhh.4, human [O75746-1]

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
Y14494 mRNA Translation: CAA74834.1
AJ496568 mRNA Translation: CAD43090.1
AK091071 mRNA Translation: BAG52276.1
AC015976 Genomic DNA No translation available.
AC068039 Genomic DNA Translation: AAY24134.1
AC114745 Genomic DNA No translation available.
CH471058 Genomic DNA Translation: EAX11196.1
BC016932 mRNA Translation: AAH16932.1
CCDSiCCDS33327.1 [O75746-1]
RefSeqiNP_003696.2, NM_003705.4 [O75746-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4P5XX-ray2.26A2-311[»]
4P60X-ray2.40A/B2-311[»]
AlphaFoldDBiO75746
SMRiO75746
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114164, 223 interactors
IntActiO75746, 61 interactors
MINTiO75746
STRINGi9606.ENSP00000388658

Chemistry databases

DrugBankiDB00128, Aspartic acid
DrugCentraliO75746

Protein family/group databases

TCDBi2.A.29.14.1, the mitochondrial carrier (mc) family

PTM databases

GlyGeniO75746, 1 site, 1 O-linked glycan (1 site)
iPTMnetiO75746
PhosphoSitePlusiO75746
SwissPalmiO75746

Genetic variation databases

BioMutaiSLC25A12

Proteomic databases

EPDiO75746
jPOSTiO75746
MassIVEiO75746
MaxQBiO75746
PaxDbiO75746
PeptideAtlasiO75746
PRIDEiO75746
ProteomicsDBi3583
50177 [O75746-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33855, 226 antibodies from 26 providers

The DNASU plasmid repository

More...DNASUi		8604

Genome annotation databases

EnsembliENST00000422440.7; ENSP00000388658.2; ENSG00000115840.14
GeneIDi8604
KEGGihsa:8604
MANE-SelectiENST00000422440.7; ENSP00000388658.2; NM_003705.5; NP_003696.2
UCSCiuc002uhh.4, human [O75746-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8604
DisGeNETi8604

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC25A12
HGNCiHGNC:10982, SLC25A12
HPAiENSG00000115840, Tissue enhanced (skeletal)
MalaCardsiSLC25A12
MIMi603667, gene
612949, phenotype
neXtProtiNX_O75746
OpenTargetsiENSG00000115840
Orphaneti353217, Epileptic encephalopathy with global cerebral demyelination
PharmGKBiPA35858
VEuPathDBiHostDB:ENSG00000115840

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0751, Eukaryota
GeneTreeiENSGT00940000155963
HOGENOMiCLU_014931_3_0_1
InParanoidiO75746
OMAiDWDCEWA
OrthoDBi1007928at2759
PhylomeDBiO75746
TreeFamiTF313209

Enzyme and pathway databases

PathwayCommonsiO75746
ReactomeiR-HSA-1268020, Mitochondrial protein import
R-HSA-70263, Gluconeogenesis
R-HSA-8963693, Aspartate and asparagine metabolism
SignaLinkiO75746
SIGNORiO75746

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8604, 9 hits in 1076 CRISPR screens

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

More...ChiTaRSi		SLC25A12, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SLC25A12

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

More...GenomeRNAii		8604
PharosiO75746, Tbio

Protein Ontology

More...PROi		PR:O75746
RNActiO75746, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000115840, Expressed in muscle of leg and 239 other tissues
ExpressionAtlasiO75746, baseline and differential
GenevisibleiO75746, HS

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
IPR002067, Mit_carrier
IPR018108, Mitochondrial_sb/sol_carrier
IPR023395, Mt_carrier_dom_sf
PfamiView protein in Pfam
PF00153, Mito_carr, 3 hits
PRINTSiPR00926, MITOCARRIER
SMARTiView protein in SMART
SM00054, EFh, 3 hits
SUPFAMiSSF103506, SSF103506, 1 hit
SSF47473, SSF47473, 2 hits
PROSITEiView protein in PROSITE
PS00018, EF_HAND_1, 1 hit
PS50222, EF_HAND_2, 2 hits
PS50920, SOLCAR, 3 hits

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 nameiCMC1_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: O75746
Secondary accession number(s): B3KR64, Q96AM8
<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: February 21, 2001
Last sequence update: September 23, 2008
Last modified: May 25, 2022
This is version 201 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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