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Q9UJS0

- CMC2_HUMAN

UniProt

Q9UJS0 - CMC2_HUMAN

Protein

Calcium-binding mitochondrial carrier protein Aralar2

Gene

SLC25A13

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 2 (21 Feb 2001)
      Previous versions | rss
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    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

    1. calcium ion binding Source: UniProtKB
    2. L-aspartate transmembrane transporter activity Source: UniProtKB
    3. L-glutamate transmembrane transporter activity Source: UniProtKB
    4. transporter activity Source: UniProtKB

    GO - Biological processi

    1. aspartate transport Source: UniProtKB
    2. ATP biosynthetic process Source: UniProtKB
    3. carbohydrate metabolic process Source: Reactome
    4. cellular respiration Source: UniProtKB
    5. gluconeogenesis Source: Reactome
    6. glucose metabolic process Source: Reactome
    7. L-glutamate transport Source: UniProtKB
    8. malate-aspartate shuttle Source: UniProtKB
    9. response to calcium ion Source: UniProtKB
    10. small molecule metabolic process Source: Reactome
    11. transport Source: UniProtKB

    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: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:10983. SLC25A13.

    Subcellular locationi

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

    GO - Cellular componenti

    1. integral component of plasma membrane Source: UniProtKB
    2. mitochondrial inner membrane Source: UniProtKB
    3. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Citrullinemia 2 (CTLN2) [MIM:603471]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) [MIM:605814]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.

    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

    ArrayExpressiQ9UJS0.
    BgeeiQ9UJS0.
    CleanExiHS_SLC25A13.
    GenevestigatoriQ9UJS0.

    Organism-specific databases

    HPAiHPA018997.

    Interactioni

    Protein-protein interaction databases

    BioGridi115467. 21 interactions.
    IntActiQ9UJS0. 28 interactions.
    MINTiMINT-3081120.
    STRINGi9606.ENSP00000265631.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UJS0.
    SMRiQ9UJS0. Positions 19-295, 332-604.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    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

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

    Family and domain databases

    Gene3Di1.10.238.10. 2 hits.
    1.50.40.10. 1 hit.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    IPR002067. Mit_carrier.
    IPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view]
    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. Align

    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

    MAAAKVALTK RADPAELRTI FLKYASIEKN GEFFMSPNDF VTRYLNIFGE    50
    SQPNPKTVEL LSGVVDQTKD GLISFQEFVA FESVLCAPDA LFMVAFQLFD 100
    KAGKGEVTFE DVKQVFGQTT IHQHIPFNWD SEFVQLHFGK ERKRHLTYAE 150
    FTQFLLEIQL EHAKQAFVQR DNARTGRVTA IDFRDIMVTI RPHVLTPFVE 200
    ECLVAAAGGT TSHQVSFSYF NGFNSLLNNM ELIRKIYSTL AGTRKDVEVT 250
    KEEFVLAAQK FGQVTPMEVD ILFQLADLYE PRGRMTLADI ERIAPLEEGT 300
    LPFNLAEAQR QKASGDSARP VLLQVAESAY RFGLGSVAGA VGATAVYPID 350
    LVKTRMQNQR STGSFVGELM YKNSFDCFKK VLRYEGFFGL YRGLLPQLLG 400
    VAPEKAIKLT VNDFVRDKFM HKDGSVPLAA EILAGGCAGG SQVIFTNPLE 450
    IVKIRLQVAG EITTGPRVSA LSVVRDLGFF GIYKGAKACF LRDIPFSAIY 500
    FPCYAHVKAS FANEDGQVSP GSLLLAGAIA GMPAASLVTP ADVIKTRLQV 550
    AARAGQTTYS GVIDCFRKIL REEGPKALWK GAGARVFRSS PQFGVTLLTY 600
    ELLQRWFYID FGGVKPMGSE PVPKSRINLP APNPDHVGGY KLAVATFAGI 650
    ENKFGLYLPL FKPSVSTSKA IGGGP 675
    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.
    The sequence AAB70112.1 differs from that shown. Reason: Erroneous gene model prediction.

    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:
    EMBL
    GenBank
    DDBJ
    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.4. human. [Q9UJS0-1]
    uc003uog.4. human. [Q9UJS0-2]

    Polymorphism databases

    DMDMi13124095.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS55130.1. [Q9UJS0-2 ]
    CCDS5645.1. [Q9UJS0-1 ]
    RefSeqi NP_001153682.1. NM_001160210.1. [Q9UJS0-2 ]
    NP_055066.1. NM_014251.2. [Q9UJS0-1 ]
    UniGenei Hs.489190.

    3D structure databases

    ProteinModelPortali Q9UJS0.
    SMRi Q9UJS0. Positions 19-295, 332-604.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115467. 21 interactions.
    IntActi Q9UJS0. 28 interactions.
    MINTi MINT-3081120.
    STRINGi 9606.ENSP00000265631.

    Chemistry

    DrugBanki DB00128. L-Aspartic Acid.

    Protein family/group databases

    TCDBi 2.A.29.14.2. the mitochondrial carrier (mc) family.

    PTM databases

    PhosphoSitei Q9UJS0.

    Polymorphism databases

    DMDMi 13124095.

    Proteomic databases

    MaxQBi Q9UJS0.
    PaxDbi Q9UJS0.
    PRIDEi Q9UJS0.

    Protocols and materials databases

    DNASUi 10165.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265631 ; ENSP00000265631 ; ENSG00000004864 . [Q9UJS0-1 ]
    ENST00000416240 ; ENSP00000400101 ; ENSG00000004864 . [Q9UJS0-2 ]
    GeneIDi 10165.
    KEGGi hsa:10165.
    UCSCi uc003uof.4. human. [Q9UJS0-1 ]
    uc003uog.4. human. [Q9UJS0-2 ]

    Organism-specific databases

    CTDi 10165.
    GeneCardsi GC07M095749.
    GeneReviewsi SLC25A13.
    H-InvDB HIX0167840.
    HGNCi HGNC:10983. SLC25A13.
    HPAi HPA018997.
    MIMi 603471. phenotype.
    603859. gene.
    605814. phenotype.
    neXtProti NX_Q9UJS0.
    Orphaneti 247585. Citrullinemia type II.
    247598. Neonatal intrahepatic cholestasis due to citrin deficiency.
    PharmGKBi PA35859.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG292991.
    HOGENOMi HOG000180633.
    HOVERGENi HBG005350.
    InParanoidi Q9UJS0.
    KOi K15105.
    OMAi CDEFEAV.
    OrthoDBi EOG70GMF1.
    PhylomeDBi Q9UJS0.
    TreeFami TF313209.

    Enzyme and pathway databases

    Reactomei REACT_118595. Mitochondrial protein import.
    REACT_1520. Gluconeogenesis.

    Miscellaneous databases

    ChiTaRSi SLC25A13. human.
    GenomeRNAii 10165.
    NextBioi 38486.
    PROi Q9UJS0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UJS0.
    Bgeei Q9UJS0.
    CleanExi HS_SLC25A13.
    Genevestigatori Q9UJS0.

    Family and domain databases

    Gene3Di 1.10.238.10. 2 hits.
    1.50.40.10. 1 hit.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    IPR002067. Mit_carrier.
    IPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view ]
    Pfami PF13405. EF-hand_6. 1 hit.
    PF00153. Mito_carr. 3 hits.
    [Graphical view ]
    PRINTSi PR00926. MITOCARRIER.
    SMARTi SM00054. EFh. 2 hits.
    [Graphical view ]
    SUPFAMi SSF103506. SSF103506. 1 hit.
    PROSITEi PS50222. EF_HAND_2. 2 hits.
    PS50920. SOLCAR. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. "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: October 1, 2014
    This is version 147 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

    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3