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Protein

Calcium-binding mitochondrial carrier protein Aralar2

Gene

SLC25A13

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 bindingi66CalciumCombined sources1 Publication1
Metal bindingi70CalciumCombined sources1 Publication1
Metal bindingi72Calcium; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi77CalciumCombined 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 bindingi66 – 7711 PublicationAdd BLAST12
Calcium bindingi100 – 1112Add BLAST12
Calcium bindingi171 – 1823Add 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.29.14.2 the mitochondrial carrier (mc) family

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Calcium-binding mitochondrial carrier protein Aralar2
Alternative name(s):
Citrin
Mitochondrial aspartate glutamate carrier 2
Solute carrier family 25 member 13
<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:SLC25A13
Synonyms:ARALAR2
<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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000004864.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10983 SLC25A13

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603859 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UJS0

<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>Transmembranei332 – 349Helical; Name=1By similarityAdd BLAST18
Transmembranei393 – 412Helical; Name=2By similarityAdd BLAST20
Transmembranei436 – 449Helical; Name=3By similarityAdd BLAST14
Transmembranei485 – 504Helical; Name=4By similarityAdd BLAST20
Transmembranei524 – 541Helical; Name=5By similarityAdd BLAST18
Transmembranei581 – 600Helical; Name=6By similarityAdd 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

Citrullinemia 2 (CTLN2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years.
See also OMIM:603471
Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms.
See also OMIM:605814
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_016601601E → K in NICCD. 1 PublicationCorresponds to variant dbSNP:rs80338727EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

DisGeNET

More...
DisGeNETi
10165

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

More...
GeneReviewsi
SLC25A13

MalaCards human disease database

More...
MalaCardsi
SLC25A13
MIMi603471 phenotype
605814 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000004864

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

More...
Orphaneti
247585 Citrullinemia type II
247598 Neonatal intrahepatic cholestasis due to citrin deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35859

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
SLC25A13

Domain mapping of disease mutations (DMDM)

More...
DMDMi
13124095

<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 sources
<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_00000906002 – 675Calcium-binding mitochondrial carrier protein Aralar2Add BLAST674

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
Modified residuei353N6-acetyllysineBy similarity1
Modified residuei372N6-acetyllysineBy similarity1
Modified residuei453N6-methyllysineCombined sources1
Modified residuei484N6-acetyllysine; alternateBy similarity1
Modified residuei484N6-succinyllysine; alternateBy similarity1
Modified residuei580N6-succinyllysineBy similarity1
Modified residuei662N6-acetyllysineBy similarity1
Modified residuei666PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UJS0

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

More...
PaxDbi
Q9UJS0

PeptideAtlas

More...
PeptideAtlasi
Q9UJS0

PRoteomics IDEntifications database

More...
PRIDEi
Q9UJS0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
84641
84642 [Q9UJS0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UJS0

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

More...
PhosphoSitePlusi
Q9UJS0

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9UJS0

<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

High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000004864 Expressed in 221 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_SLC25A13

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UJS0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UJS0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA018997

<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
115467, 60 interactors

Protein interaction database and analysis system

More...
IntActi
Q9UJS0, 70 interactors

Molecular INTeraction database

More...
MINTi
Q9UJS0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000400101

<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

1675
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
Q9UJS0

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

More...
SMRi
Q9UJS0

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>Domaini51 – 86EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini87 – 122EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini125 – 157EF-hand 3PROSITE-ProRule annotationAdd BLAST33
Domaini158 – 193EF-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>Repeati326 – 418Solcar 1PROSITE-ProRule annotationAdd BLAST93
Repeati426 – 510Solcar 2PROSITE-ProRule annotationAdd BLAST85
Repeati518 – 606Solcar 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 – 295N-terminal domain1 PublicationAdd BLAST294
Regioni296 – 311Linker loop domainBy similarityAdd BLAST16
Regioni321 – 612Carrier domain1 PublicationAdd BLAST292
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 helix loop domain may close the vestibule, which may prevent substrates from entering the carrier domain (By similarity).By similarity1 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
ENSGT00940000159344

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
Q9UJS0

KEGG Orthology (KO)

More...
KOi
K15105

Identification of Orthologs from Complete Genome Data

More...
OMAi
VRDKFMR

Database of Orthologous Groups

More...
OrthoDBi
EOG091G08GT

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UJS0

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
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

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
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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UJS0-1) [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
MAAAKVALTK RADPAELRTI FLKYASIEKN GEFFMSPNDF VTRYLNIFGE
60 70 80 90 100
SQPNPKTVEL LSGVVDQTKD GLISFQEFVA FESVLCAPDA LFMVAFQLFD
110 120 130 140 150
KAGKGEVTFE DVKQVFGQTT IHQHIPFNWD SEFVQLHFGK ERKRHLTYAE
160 170 180 190 200
FTQFLLEIQL EHAKQAFVQR DNARTGRVTA IDFRDIMVTI RPHVLTPFVE
210 220 230 240 250
ECLVAAAGGT TSHQVSFSYF NGFNSLLNNM ELIRKIYSTL AGTRKDVEVT
260 270 280 290 300
KEEFVLAAQK FGQVTPMEVD ILFQLADLYE PRGRMTLADI ERIAPLEEGT
310 320 330 340 350
LPFNLAEAQR QKASGDSARP VLLQVAESAY RFGLGSVAGA VGATAVYPID
360 370 380 390 400
LVKTRMQNQR STGSFVGELM YKNSFDCFKK VLRYEGFFGL YRGLLPQLLG
410 420 430 440 450
VAPEKAIKLT VNDFVRDKFM HKDGSVPLAA EILAGGCAGG SQVIFTNPLE
460 470 480 490 500
IVKIRLQVAG EITTGPRVSA LSVVRDLGFF GIYKGAKACF LRDIPFSAIY
510 520 530 540 550
FPCYAHVKAS FANEDGQVSP GSLLLAGAIA GMPAASLVTP ADVIKTRLQV
560 570 580 590 600
AARAGQTTYS GVIDCFRKIL REEGPKALWK GAGARVFRSS PQFGVTLLTY
610 620 630 640 650
ELLQRWFYID FGGVKPMGSE PVPKSRINLP APNPDHVGGY KLAVATFAGI
660 670
ENKFGLYLPL FKPSVSTSKA IGGGP
Length:675
Mass (Da):74,176
Last modified:February 21, 2001 - 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:iAD07EDBC6C68989B
GO
Isoform 2 (identifier: Q9UJS0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     311-311: Q → QQ

Show »
Length:676
Mass (Da):74,304
Checksum:iDE2CB869F95E5238
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
R4GN64R4GN64_HUMAN
Calcium-binding mitochondrial carri...
SLC25A13
73Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB67049 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAB70112 differs from that shown. Reason: Erroneous gene model prediction.Curated

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 conflicti231 – 232EL → VH in CAB62206 (PubMed:10642534).Curated2
Sequence conflicti532M → T in CAB62206 (PubMed:10642534).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050126141E → K. Corresponds to variant dbSNP:rs1131697EnsemblClinVar.1
Natural variantiVAR_050127232L → I. Corresponds to variant dbSNP:rs10255762Ensembl.1
Natural variantiVAR_016601601E → K in NICCD. 1 PublicationCorresponds to variant dbSNP:rs80338727EnsemblClinVar.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_043747311Q → QQ in isoform 2. 1 Publication1

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
AF118838 mRNA Translation: AAD38501.1
Y17571 mRNA Translation: CAB62206.1
AJ496569 mRNA Translation: CAD43091.1
AC002540 Genomic DNA Translation: AAB70112.1 Sequence problems.
AC002450 Genomic DNA Translation: AAB67049.1 Sequence problems.
AC004458 Genomic DNA No translation available.
AC084368 Genomic DNA No translation available.
AC096775 Genomic DNA No translation available.
CH471091 Genomic DNA Translation: EAW76748.1
BC006566 mRNA Translation: AAH06566.1
AH009104 Genomic DNA Translation: AAF28473.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS55130.1 [Q9UJS0-2]
CCDS5645.1 [Q9UJS0-1]

NCBI Reference Sequences

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RefSeqi
NP_001153682.1, NM_001160210.1 [Q9UJS0-2]
NP_055066.1, NM_014251.2 [Q9UJS0-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.489190

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000265631; ENSP00000265631; ENSG00000004864 [Q9UJS0-1]
ENST00000416240; ENSP00000400101; ENSG00000004864 [Q9UJS0-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10165

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10165

UCSC genome browser

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UCSCi
uc003uof.5 human [Q9UJS0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF118838 mRNA Translation: AAD38501.1
Y17571 mRNA Translation: CAB62206.1
AJ496569 mRNA Translation: CAD43091.1
AC002540 Genomic DNA Translation: AAB70112.1 Sequence problems.
AC002450 Genomic DNA Translation: AAB67049.1 Sequence problems.
AC004458 Genomic DNA No translation available.
AC084368 Genomic DNA No translation available.
AC096775 Genomic DNA No translation available.
CH471091 Genomic DNA Translation: EAW76748.1
BC006566 mRNA Translation: AAH06566.1
AH009104 Genomic DNA Translation: AAF28473.1
CCDSiCCDS55130.1 [Q9UJS0-2]
CCDS5645.1 [Q9UJS0-1]
RefSeqiNP_001153682.1, NM_001160210.1 [Q9UJS0-2]
NP_055066.1, NM_014251.2 [Q9UJS0-1]
UniGeneiHs.489190

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
4P5WX-ray2.40A/B2-319[»]
A/B612-675[»]
ProteinModelPortaliQ9UJS0
SMRiQ9UJS0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115467, 60 interactors
IntActiQ9UJS0, 70 interactors
MINTiQ9UJS0
STRINGi9606.ENSP00000400101

Chemistry databases

DrugBankiDB00128 L-Aspartic Acid

Protein family/group databases

TCDBi2.A.29.14.2 the mitochondrial carrier (mc) family

PTM databases

iPTMnetiQ9UJS0
PhosphoSitePlusiQ9UJS0
SwissPalmiQ9UJS0

Polymorphism and mutation databases

BioMutaiSLC25A13
DMDMi13124095

Proteomic databases

EPDiQ9UJS0
PaxDbiQ9UJS0
PeptideAtlasiQ9UJS0
PRIDEiQ9UJS0
ProteomicsDBi84641
84642 [Q9UJS0-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10165
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265631; ENSP00000265631; ENSG00000004864 [Q9UJS0-1]
ENST00000416240; ENSP00000400101; ENSG00000004864 [Q9UJS0-2]
GeneIDi10165
KEGGihsa:10165
UCSCiuc003uof.5 human [Q9UJS0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10165
DisGeNETi10165
EuPathDBiHostDB:ENSG00000004864.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC25A13
GeneReviewsiSLC25A13

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0167840
HGNCiHGNC:10983 SLC25A13
HPAiHPA018997
MalaCardsiSLC25A13
MIMi603471 phenotype
603859 gene
605814 phenotype
neXtProtiNX_Q9UJS0
OpenTargetsiENSG00000004864
Orphaneti247585 Citrullinemia type II
247598 Neonatal intrahepatic cholestasis due to citrin deficiency
PharmGKBiPA35859

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0751 Eukaryota
ENOG410XNRM LUCA
GeneTreeiENSGT00940000159344
HOGENOMiHOG000180633
HOVERGENiHBG005350
InParanoidiQ9UJS0
KOiK15105
OMAiVRDKFMR
OrthoDBiEOG091G08GT
PhylomeDBiQ9UJS0
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

More...
ChiTaRSi
SLC25A13 human

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

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GenomeRNAii
10165

Protein Ontology

More...
PROi
PR:Q9UJS0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000004864 Expressed in 221 organ(s), highest expression level in liver
CleanExiHS_SLC25A13
ExpressionAtlasiQ9UJS0 baseline and differential
GenevisibleiQ9UJS0 HS

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
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
SUPFAMiSSF103506 SSF103506, 1 hit
SSF47473 SSF47473, 2 hits
PROSITEiView protein in PROSITE
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 nameiCMC2_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: Q9UJS0
Secondary accession number(s): O14566
, O14575, Q546F9, Q9NZW1, Q9UNI7
<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: February 21, 2001
Last modified: December 5, 2018
This is version 191 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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  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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