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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-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)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi66 – 77121Add
BLAST
Calcium bindingi100 – 111122Add
BLAST
Calcium bindingi171 – 182123Add
BLAST

GO - Molecular functioni

  • 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
  • carbohydrate metabolic process Source: Reactome
  • cellular respiration Source: UniProtKB
  • gluconeogenesis Source: Reactome
  • glucose metabolic process Source: Reactome
  • L-aspartate transmembrane transport Source: GOC
  • L-glutamate transmembrane transport Source: GOC
  • L-glutamate transport Source: UniProtKB
  • malate-aspartate shuttle Source: UniProtKB
  • response to calcium ion Source: UniProtKB
  • small molecule metabolic process Source: Reactome
  • transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_118595. Mitochondrial protein import.
REACT_1520. 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
ProteomesiUP000005640 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)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei332 – 34918Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei393 – 41220Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei436 – 44914Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei485 – 50420Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei524 – 54118Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei581 – 60020Helical; Name=6Sequence AnalysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti601 – 6011E → K in NICCD. 1 Publication
VAR_016601

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

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

Chemistry

DrugBankiDB00128. L-Aspartic Acid.

Polymorphism and mutation databases

BioMutaiSLC25A13.
DMDMi13124095.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 675674Calcium-binding mitochondrial carrier protein Aralar2PRO_0000090600Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Modified residuei353 – 3531N6-acetyllysineBy similarity
Modified residuei372 – 3721N6-acetyllysineBy similarity
Modified residuei484 – 4841N6-acetyllysine; alternateBy similarity
Modified residuei484 – 4841N6-succinyllysine; alternateBy similarity
Modified residuei580 – 5801N6-succinyllysineBy similarity
Modified residuei662 – 6621N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9UJS0.
PaxDbiQ9UJS0.
PRIDEiQ9UJS0.

PTM databases

PhosphoSiteiQ9UJS0.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9UJS0.
CleanExiHS_SLC25A13.
ExpressionAtlasiQ9UJS0. baseline and differential.
GenevisibleiQ9UJS0. HS.

Organism-specific databases

HPAiHPA018997.

Interactioni

Protein-protein interaction databases

BioGridi115467. 29 interactions.
IntActiQ9UJS0. 35 interactions.
MINTiMINT-3081120.
STRINGi9606.ENSP00000400101.

Structurei

Secondary structure

1
675
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi14 – 2411Combined sources
Beta strandi27 – 293Combined sources
Beta strandi32 – 354Combined sources
Helixi37 – 404Combined sources
Turni41 – 444Combined sources
Helixi55 – 6511Combined sources
Beta strandi70 – 734Combined sources
Helixi75 – 8612Combined sources
Helixi90 – 9910Combined sources
Helixi109 – 11810Combined sources
Helixi120 – 1245Combined sources
Helixi132 – 1387Combined sources
Turni139 – 1424Combined sources
Helixi148 – 17023Combined sources
Beta strandi175 – 1795Combined sources
Helixi180 – 19011Combined sources
Helixi192 – 1943Combined sources
Helixi197 – 20812Combined sources
Beta strandi213 – 2164Combined sources
Helixi217 – 22812Combined sources
Helixi230 – 24112Combined sources
Helixi251 – 2588Combined sources
Helixi266 – 27914Combined sources
Beta strandi283 – 2853Combined sources
Helixi287 – 2937Combined sources
Helixi638 – 6425Combined sources
Helixi643 – 65412Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4P5WX-ray2.40A/B2-319[»]
A/B612-675[»]
ProteinModelPortaliQ9UJS0.
SMRiQ9UJS0. Positions 9-295, 332-604, 629-658.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini51 – 8636EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini87 – 12236EF-hand 2PROSITE-ProRule annotationAdd
BLAST
Domaini125 – 15733EF-hand 3PROSITE-ProRule annotationAdd
BLAST
Domaini158 – 19336EF-hand 4PROSITE-ProRule annotationAdd
BLAST
Repeati326 – 41893Solcar 1Add
BLAST
Repeati426 – 51085Solcar 2Add
BLAST
Repeati518 – 60689Solcar 3Add
BLAST

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

eggNOGiNOG292991.
GeneTreeiENSGT00530000062944.
HOGENOMiHOG000180633.
HOVERGENiHBG005350.
InParanoidiQ9UJS0.
KOiK15105.
OMAiCDEFEAV.
OrthoDBiEOG70GMF1.
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.
PfamiPF13405. EF-hand_6. 1 hit.
PF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
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 AAB67049.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence AAB70112.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti231 – 2322EL → VH in CAB62206 (PubMed:10642534).Curated
Sequence conflicti532 – 5321M → T in CAB62206 (PubMed:10642534).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti141 – 1411E → K.
Corresponds to variant rs1131697 [ dbSNP | Ensembl ].
VAR_050126
Natural varianti232 – 2321L → I.
Corresponds to variant rs10255762 [ dbSNP | Ensembl ].
VAR_050127
Natural varianti601 – 6011E → K in NICCD. 1 Publication
VAR_016601

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei311 – 3111Q → QQ in isoform 2. 1 PublicationVSP_043747

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.
ENST00000416240; ENSP00000400101; ENSG00000004864. [Q9UJS0-2]
GeneIDi10165.
KEGGihsa:10165.
UCSCiuc003uof.4. human. [Q9UJS0-1]
uc003uog.4. human. [Q9UJS0-2]

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
EntryMethodResolution (Å)ChainPositionsPDBsum
4P5WX-ray2.40A/B2-319[»]
A/B612-675[»]
ProteinModelPortaliQ9UJS0.
SMRiQ9UJS0. Positions 9-295, 332-604, 629-658.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115467. 29 interactions.
IntActiQ9UJS0. 35 interactions.
MINTiMINT-3081120.
STRINGi9606.ENSP00000400101.

Chemistry

DrugBankiDB00128. L-Aspartic Acid.

Protein family/group databases

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

PTM databases

PhosphoSiteiQ9UJS0.

Polymorphism and mutation databases

BioMutaiSLC25A13.
DMDMi13124095.

Proteomic databases

MaxQBiQ9UJS0.
PaxDbiQ9UJS0.
PRIDEiQ9UJS0.

Protocols and materials databases

DNASUi10165.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265631; ENSP00000265631; ENSG00000004864.
ENST00000416240; ENSP00000400101; ENSG00000004864. [Q9UJS0-2]
GeneIDi10165.
KEGGihsa:10165.
UCSCiuc003uof.4. human. [Q9UJS0-1]
uc003uog.4. human. [Q9UJS0-2]

Organism-specific databases

CTDi10165.
GeneCardsiGC07M095749.
GeneReviewsiSLC25A13.
H-InvDBHIX0167840.
HGNCiHGNC:10983. SLC25A13.
HPAiHPA018997.
MIMi603471. phenotype.
603859. gene.
605814. phenotype.
neXtProtiNX_Q9UJS0.
Orphaneti247585. Citrullinemia type II.
247598. Neonatal intrahepatic cholestasis due to citrin deficiency.
PharmGKBiPA35859.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG292991.
GeneTreeiENSGT00530000062944.
HOGENOMiHOG000180633.
HOVERGENiHBG005350.
InParanoidiQ9UJS0.
KOiK15105.
OMAiCDEFEAV.
OrthoDBiEOG70GMF1.
PhylomeDBiQ9UJS0.
TreeFamiTF313209.

Enzyme and pathway databases

ReactomeiREACT_118595. Mitochondrial protein import.
REACT_1520. Gluconeogenesis.

Miscellaneous databases

ChiTaRSiSLC25A13. human.
GenomeRNAii10165.
NextBioi38486.
PROiQ9UJS0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UJS0.
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.
PfamiPF13405. EF-hand_6. 1 hit.
PF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50222. EF_HAND_2. 2 hits.
PS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein."
    Kobayashi K., Sinasac D.S., Iijima M., Boright A.P., Begum L., Lee J.R., Yasuda T., Ikeda S., Hirano R., Terazono H., Crackower M.A., Kondo I., Tsui L.-C., Scherer S.W., Saheki T.
    Nat. Genet. 22:159-163(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), INVOLVEMENT IN CTLN2, TISSUE SPECIFICITY.
  2. "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues."
    Del Arco A., Agudo M., Satrustegui J.
    Biochem. J. 345:725-732(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, CALCIUM-BINDING.
    Tissue: Liver.
  3. "Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria."
    Palmieri L., Pardo B., Lasorsa F.M., del Arco A., Kobayashi K., Iijima M., Runswick M.J., Walker J.E., Saheki T., Satrustegui J., Palmieri F.
    EMBO J. 20:5060-5069(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION.
  4. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Uterus.
  7. "Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue."
    Sinasac D.S., Crackower M.A., Lee J.R., Kobayashi K., Saheki T., Scherer S.W., Tsui L.-C.
    Genomics 62:289-292(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 6-251, INVOLVEMENT IN CTLN2.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  11. "Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations."
    Yamaguchi N., Kobayashi K., Yasuda T., Nishi I., Iijima M., Nakagawa M., Osame M., Kondo I., Saheki T.
    Hum. Mutat. 19:122-130(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NICCD LYS-601.

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: July 22, 2015
This is version 155 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

External Data

Dasty 3

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 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.