Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Calcium-binding mitochondrial carrier protein Aralar2

Gene

SLC25A13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi66 – 771Add BLAST12
Calcium bindingi100 – 1112Add BLAST12
Calcium bindingi171 – 1823Add BLAST12

GO - Molecular functioni

  • acidic amino acid transmembrane transporter activity Source: Reactome
  • calcium ion binding Source: UniProtKB
  • L-aspartate transmembrane transporter activity Source: UniProtKB
  • L-glutamate transmembrane transporter activity Source: UniProtKB
  • transporter activity Source: UniProtKB

GO - Biological processi

  • aspartate transport Source: UniProtKB
  • ATP biosynthetic process Source: UniProtKB
  • cellular respiration Source: UniProtKB
  • gluconeogenesis Source: Reactome
  • L-glutamate transport Source: UniProtKB
  • malate-aspartate shuttle Source: UniProtKB
  • response to calcium ion Source: UniProtKB
  • transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000004864-MONOMER.
ReactomeiR-HSA-1268020. Mitochondrial protein import.
R-HSA-70263. Gluconeogenesis.

Protein family/group databases

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

Names & Taxonomyi

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
Gene namesi
Name:SLC25A13
Synonyms:ARALAR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:10983. SLC25A13.

Subcellular locationi

  • Mitochondrion inner membrane 1 Publication; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei332 – 349Helical; Name=1Sequence analysisAdd BLAST18
Transmembranei393 – 412Helical; Name=2Sequence analysisAdd BLAST20
Transmembranei436 – 449Helical; Name=3Sequence analysisAdd BLAST14
Transmembranei485 – 504Helical; Name=4Sequence analysisAdd BLAST20
Transmembranei524 – 541Helical; Name=5Sequence analysisAdd BLAST18
Transmembranei581 – 600Helical; Name=6Sequence analysisAdd BLAST20

GO - Cellular componenti

  • integral component of plasma membrane Source: UniProtKB
  • mitochondrial inner membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

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
Natural variantiVAR_016601601E → K in NICCD. 1 PublicationCorresponds to variant rs80338727dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

DisGeNETi10165.
MalaCardsiSLC25A13.
MIMi603471. phenotype.
605814. phenotype.
OpenTargetsiENSG00000004864.
Orphaneti247585. Citrullinemia type II.
247598. Neonatal intrahepatic cholestasis due to citrin deficiency.
PharmGKBiPA35859.

Chemistry databases

DrugBankiDB00128. L-Aspartic Acid.

Polymorphism and mutation databases

BioMutaiSLC25A13.
DMDMi13124095.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000906002 – 675Calcium-binding mitochondrial carrier protein Aralar2Add BLAST674

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

EPDiQ9UJS0.
PaxDbiQ9UJS0.
PeptideAtlasiQ9UJS0.
PRIDEiQ9UJS0.

PTM databases

iPTMnetiQ9UJS0.
PhosphoSitePlusiQ9UJS0.
SwissPalmiQ9UJS0.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000004864.
CleanExiHS_SLC25A13.
ExpressionAtlasiQ9UJS0. baseline and differential.
GenevisibleiQ9UJS0. HS.

Organism-specific databases

HPAiHPA018997.

Interactioni

Protein-protein interaction databases

BioGridi115467. 44 interactors.
IntActiQ9UJS0. 49 interactors.
MINTiMINT-3081120.
STRINGi9606.ENSP00000400101.

Structurei

Secondary structure

1675
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi14 – 24Combined sources11
Beta strandi27 – 29Combined sources3
Beta strandi32 – 35Combined sources4
Helixi37 – 40Combined sources4
Turni41 – 44Combined sources4
Helixi55 – 65Combined sources11
Beta strandi70 – 73Combined sources4
Helixi75 – 86Combined sources12
Helixi90 – 99Combined sources10
Helixi109 – 118Combined sources10
Helixi120 – 124Combined sources5
Helixi132 – 138Combined sources7
Turni139 – 142Combined sources4
Helixi148 – 170Combined sources23
Beta strandi175 – 179Combined sources5
Helixi180 – 190Combined sources11
Helixi192 – 194Combined sources3
Helixi197 – 208Combined sources12
Beta strandi213 – 216Combined sources4
Helixi217 – 228Combined sources12
Helixi230 – 241Combined sources12
Helixi251 – 258Combined sources8
Helixi266 – 279Combined sources14
Beta strandi283 – 285Combined sources3
Helixi287 – 293Combined sources7
Helixi638 – 642Combined sources5
Helixi643 – 654Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4P5WX-ray2.40A/B2-319[»]
A/B612-675[»]
ProteinModelPortaliQ9UJS0.
SMRiQ9UJS0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Repeati326 – 418Solcar 1Add BLAST93
Repeati426 – 510Solcar 2Add BLAST85
Repeati518 – 606Solcar 3Add BLAST89

Sequence similaritiesi

Contains 4 EF-hand domains.PROSITE-ProRule annotation
Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0751. Eukaryota.
ENOG410XNRM. LUCA.
GeneTreeiENSGT00530000062944.
HOGENOMiHOG000180633.
HOVERGENiHBG005350.
InParanoidiQ9UJS0.
KOiK15105.
OMAiCDEFEAV.
OrthoDBiEOG091G08GT.
PhylomeDBiQ9UJS0.
TreeFamiTF313209.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
1.50.40.10. 1 hit.
InterProiIPR029658. Aralar2.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PANTHERiPTHR24089:SF265. PTHR24089:SF265. 1 hit.
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SUPFAMiSSF103506. SSF103506. 1 hit.
SSF47473. SSF47473. 2 hits.
PROSITEiPS50222. EF_HAND_2. 2 hits.
PS50920. SOLCAR. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

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
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 rs1131697dbSNPEnsembl.1
Natural variantiVAR_050127232L → I.Corresponds to variant rs10255762dbSNPEnsembl.1
Natural variantiVAR_016601601E → K in NICCD. 1 PublicationCorresponds to variant rs80338727dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043747311Q → QQ in isoform 2. 1 Publication1

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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4P5WX-ray2.40A/B2-319[»]
A/B612-675[»]
ProteinModelPortaliQ9UJS0.
SMRiQ9UJS0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115467. 44 interactors.
IntActiQ9UJS0. 49 interactors.
MINTiMINT-3081120.
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.

Protocols and materials databases

DNASUi10165.
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

CTDi10165.
DisGeNETi10165.
GeneCardsiSLC25A13.
GeneReviewsiSLC25A13.
H-InvDBHIX0167840.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0751. Eukaryota.
ENOG410XNRM. LUCA.
GeneTreeiENSGT00530000062944.
HOGENOMiHOG000180633.
HOVERGENiHBG005350.
InParanoidiQ9UJS0.
KOiK15105.
OMAiCDEFEAV.
OrthoDBiEOG091G08GT.
PhylomeDBiQ9UJS0.
TreeFamiTF313209.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000004864-MONOMER.
ReactomeiR-HSA-1268020. Mitochondrial protein import.
R-HSA-70263. Gluconeogenesis.

Miscellaneous databases

ChiTaRSiSLC25A13. human.
GenomeRNAii10165.
PROiQ9UJS0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000004864.
CleanExiHS_SLC25A13.
ExpressionAtlasiQ9UJS0. baseline and differential.
GenevisibleiQ9UJS0. HS.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
1.50.40.10. 1 hit.
InterProiIPR029658. Aralar2.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PANTHERiPTHR24089:SF265. PTHR24089:SF265. 1 hit.
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SUPFAMiSSF103506. SSF103506. 1 hit.
SSF47473. SSF47473. 2 hits.
PROSITEiPS50222. EF_HAND_2. 2 hits.
PS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCMC2_HUMAN
AccessioniPrimary (citable) accession number: Q9UJS0
Secondary accession number(s): O14566
, O14575, Q546F9, Q9NZW1, Q9UNI7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 21, 2001
Last modified: November 30, 2016
This is version 170 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Miscellaneous

Binds calcium.

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.