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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 ‘Function’ 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 bindingi65CalciumCombined sources1 Publication1
Metal bindingi67CalciumCombined sources1 Publication1
Metal bindingi69CalciumCombined sources1
Metal bindingi71Calcium; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi76CalciumCombined sources1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi65 – 7611 PublicationAdd BLAST12
Calcium bindingi99 – 1102Add BLAST12
Calcium bindingi170 – 1813PROSITE-ProRule annotationAdd BLAST12

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

GO - Biological processi

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

Biological processTransport
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1268020 Mitochondrial protein import
R-HSA-70263 Gluconeogenesis

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_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:
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_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:SLC25A12
Synonyms:ARALAR1
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000115840.13

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

<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 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

Epileptic encephalopathy, early infantile, 39 (EIEE39)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. EIEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive.
See also OMIM:612949
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 EIEE39; significant loss in ability to transport aspartate or glutamate. 1 PublicationCorresponds to variant dbSNP:rs886037851EnsemblClinVar.1
Natural variantiVAR_063253590Q → R in EIEE39; 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 mutation

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

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00128 L-Aspartic Acid

Polymorphism and mutation 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_processing_section">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.<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

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 human proteome resource

More...
ProteomicsDBi
50177

PTM databases

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 226 organ(s), highest expression level in muscle of leg

CleanEx database of gene expression profiles

More...
CleanExi
HS_SLC25A12

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
HPA035333
HPA035334

<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

Homodimer (via N-terminus).1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114164, 37 interactors

Protein interaction database and analysis system

More...
IntActi
O75746, 35 interactors

Molecular INTeraction database

More...
MINTi
O75746

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000388658

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O75746

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

More...
SMRi
O75746

Database of comparative protein structure models

More...
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 <a href="http://www.uniprot.org/help/family_and_domains_section">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 1PROSITE-ProRule annotationAdd BLAST12
Domaini86 – 121EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini125 – 155EF-hand 3PROSITE-ProRule annotationAdd 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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0751 Eukaryota
ENOG410XNRM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155963

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000180633

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG005350

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O75746

KEGG Orthology (KO)

More...
KOi
K15105

Identification of Orthologs from Complete Genome Data

More...
OMAi
ADYWIAF

Database of Orthologous Groups

More...
OrthoDBi
EOG091G08GT

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
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

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_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 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 '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
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

Note: No experimental confirmation available.
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
cDNA FLJ57722, highly similar to Ca...
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 EIEE39; 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 EIEE39; 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. 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_0544691 – 108MAVKV…GEVTF → M in isoform 2. 1 PublicationAdd BLAST108

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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CCDSi
CCDS33327.1 [O75746-1]

NCBI Reference Sequences

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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.470608

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000422440; ENSP00000388658; ENSG00000115840 [O75746-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8604

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8604

UCSC genome browser

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UCSCi
uc002uhh.4 human [O75746-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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]
UniGeneiHs.470608

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4P5XX-ray2.26A2-311[»]
4P60X-ray2.40A/B2-311[»]
ProteinModelPortaliO75746
SMRiO75746
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114164, 37 interactors
IntActiO75746, 35 interactors
MINTiO75746
STRINGi9606.ENSP00000388658

Chemistry databases

DrugBankiDB00128 L-Aspartic Acid

Protein family/group databases

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

PTM databases

iPTMnetiO75746
PhosphoSitePlusiO75746
SwissPalmiO75746

Polymorphism and mutation databases

BioMutaiSLC25A12

Proteomic databases

EPDiO75746
MaxQBiO75746
PaxDbiO75746
PeptideAtlasiO75746
PRIDEiO75746
ProteomicsDBi50177

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
8604
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000422440; ENSP00000388658; ENSG00000115840 [O75746-1]
GeneIDi8604
KEGGihsa:8604
UCSCiuc002uhh.4 human [O75746-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
8604
DisGeNETi8604
EuPathDBiHostDB:ENSG00000115840.13

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC25A12

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0002590
HGNCiHGNC:10982 SLC25A12
HPAiHPA035333
HPA035334
MalaCardsiSLC25A12
MIMi603667 gene
612949 phenotype
neXtProtiNX_O75746
OpenTargetsiENSG00000115840
Orphaneti353217 Epileptic encephalopathy with global cerebral demyelination
PharmGKBiPA35858

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0751 Eukaryota
ENOG410XNRM LUCA
GeneTreeiENSGT00940000155963
HOGENOMiHOG000180633
HOVERGENiHBG005350
InParanoidiO75746
KOiK15105
OMAiADYWIAF
OrthoDBiEOG091G08GT
PhylomeDBiO75746
TreeFamiTF313209

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import
R-HSA-70263 Gluconeogenesis

Miscellaneous databases

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

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ChiTaRSi
SLC25A12 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SLC25A12

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

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GenomeRNAii
8604

Protein Ontology

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PROi
PR:O75746

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115840 Expressed in 226 organ(s), highest expression level in muscle of leg
CleanExiHS_SLC25A12
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
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
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

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 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_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: February 21, 2001
Last sequence update: September 23, 2008
Last modified: December 5, 2018
This is version 182 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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