Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O75746

- CMC1_HUMAN

UniProt

O75746 - CMC1_HUMAN

Protein

Calcium-binding mitochondrial carrier protein Aralar1

Gene

SLC25A12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 2 (23 Sep 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 bindingi65 – 76121Add
    BLAST
    Calcium bindingi99 – 110122Add
    BLAST
    Calcium bindingi170 – 181123Add
    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

    GO - Biological processi

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

    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.29.14.1. the mitochondrial carrier (mc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Calcium-binding mitochondrial carrier protein Aralar1
    Alternative name(s):
    Mitochondrial aspartate glutamate carrier 1
    Solute carrier family 25 member 12
    Gene namesi
    Name:SLC25A12
    Synonyms:ARALAR1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:10982. SLC25A12.

    Subcellular locationi

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

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Global cerebral hypomyelination (GCHM) [MIM:612949]: A disorder with onset in infancy and characterized by severe psychomotor retardation, hypotonia, seizures, hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti590 – 5901Q → R in GCHM; the mutant protein is unable to transport aspartate or glutamate although it is able to integrate normally into the inner mitochondrial membrane. 1 Publication
    VAR_063253

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi612949. phenotype.
    Orphaneti353217. Epileptic encephalopathy with global cerebral demyelination.
    PharmGKBiPA35858.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 678677Calcium-binding mitochondrial carrier protein Aralar1PRO_0000090598Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO75746.
    PaxDbiO75746.
    PRIDEiO75746.

    PTM databases

    PhosphoSiteiO75746.

    Expressioni

    Tissue specificityi

    High levels in heart and skeletal muscle, low in brain and very low in kidney.2 Publications

    Gene expression databases

    ArrayExpressiO75746.
    BgeeiO75746.
    CleanExiHS_SLC25A12.
    GenevestigatoriO75746.

    Organism-specific databases

    HPAiHPA035333.

    Interactioni

    Protein-protein interaction databases

    BioGridi114164. 17 interactions.
    IntActiO75746. 10 interactions.
    STRINGi9606.ENSP00000388658.

    Structurei

    3D structure databases

    ProteinModelPortaliO75746.
    SMRiO75746. Positions 19-285, 330-602.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei330 – 34718Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei391 – 41020Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei434 – 44714Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei483 – 50220Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei522 – 53918Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei579 – 59820Helical; Name=6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini65 – 7612EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini86 – 12136EF-hand 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini125 – 15531EF-hand 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini157 – 19236EF-hand 4PROSITE-ProRule annotationAdd
    BLAST
    Repeati324 – 41693Solcar 1Add
    BLAST
    Repeati424 – 50885Solcar 2Add
    BLAST
    Repeati516 – 60489Solcar 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.
    InParanoidiO75746.
    KOiK15105.
    OMAiFESVLCT.
    OrthoDBiEOG70GMF1.
    PhylomeDBiO75746.
    TreeFamiTF313209.

    Family and domain databases

    Gene3Di1.10.238.10. 2 hits.
    1.50.40.10. 1 hit.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    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. 3 hits.
    [Graphical view]
    SUPFAMiSSF103506. SSF103506. 1 hit.
    PROSITEiPS00018. EF_HAND_1. 1 hit.
    PS50222. 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: O75746-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAVKVQTTKR GDPHELRNIF LQYASTEVDG ERYMTPEDFV QRYLGLYNDP    50
    NSNPKIVQLL AGVADQTKDG LISYQEFLAF ESVLCAPDSM FIVAFQLFDK 100
    SGNGEVTFEN VKEIFGQTII HHHIPFNWDC EFIRLHFGHN RKKHLNYTEF 150
    TQFLQELQLE HARQAFALKD KSKSGMISGL DFSDIMVTIR SHMLTPFVEE 200
    NLVSAAGGSI SHQVSFSYFN AFNSLLNNME LVRKIYSTLA GTRKDVEVTK 250
    EEFAQSAIRY GQVTPLEIDI LYQLADLYNA SGRLTLADIE RIAPLAEGAL 300
    PYNLAELQRQ QSPGLGRPIW LQIAESAYRF TLGSVAGAVG ATAVYPIDLV 350
    KTRMQNQRGS GSVVGELMYK NSFDCFKKVL RYEGFFGLYR GLIPQLIGVA 400
    PEKAIKLTVN DFVRDKFTRR DGSVPLPAEV LAGGCAGGSQ VIFTNPLEIV 450
    KIRLQVAGEI TTGPRVSALN VLRDLGIFGL YKGAKACFLR DIPFSAIYFP 500
    VYAHCKLLLA DENGHVGGLN LLAAGAMAGV PAASLVTPAD VIKTRLQVAA 550
    RAGQTTYSGV IDCFRKILRE EGPSAFWKGT AARVFRSSPQ FGVTLVTYEL 600
    LQRWFYIDFG GLKPAGSEPT PKSRIADLPP ANPDHIGGYR LATATFAGIE 650
    NKFGLYLPKF KSPSVAVVQP KAAVAATQ 678
    Length:678
    Mass (Da):74,762
    Last modified:September 23, 2008 - v2
    Checksum:iD00A7D3D4244539F
    GO
    Isoform 2 (identifier: O75746-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-108: MAVKVQTTKR...DKSGNGEVTF → M

    Note: No experimental confirmation available.

    Show »
    Length:571
    Mass (Da):62,720
    Checksum:i76841A88D6370748
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti596 – 5972VT → AH in CAA74834. (PubMed:9722566)Curated
    Sequence conflicti600 – 6001L → V in CAA74834. (PubMed:9722566)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti473 – 4731R → Q.
    Corresponds to variant rs35565687 [ dbSNP | Ensembl ].
    VAR_047917
    Natural varianti590 – 5901Q → R in GCHM; the mutant protein is unable to transport aspartate or glutamate although it is able to integrate normally into the inner mitochondrial membrane. 1 Publication
    VAR_063253

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 108108MAVKV…GEVTF → M in isoform 2. 1 PublicationVSP_054469Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y14494 mRNA. Translation: CAA74834.1.
    AJ496568 mRNA. Translation: CAD43090.1.
    AK091071 mRNA. Translation: BAG52276.1.
    AC015976 Genomic DNA. No translation available.
    AC068039 Genomic DNA. Translation: AAY24134.1.
    AC114745 Genomic DNA. No translation available.
    CH471058 Genomic DNA. Translation: EAX11196.1.
    BC016932 mRNA. Translation: AAH16932.1.
    CCDSiCCDS33327.1. [O75746-1]
    RefSeqiNP_003696.2. NM_003705.4. [O75746-1]
    UniGeneiHs.470608.

    Genome annotation databases

    EnsembliENST00000422440; ENSP00000388658; ENSG00000115840. [O75746-1]
    GeneIDi8604.
    KEGGihsa:8604.
    UCSCiuc002uhh.3. human. [O75746-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y14494 mRNA. Translation: CAA74834.1 .
    AJ496568 mRNA. Translation: CAD43090.1 .
    AK091071 mRNA. Translation: BAG52276.1 .
    AC015976 Genomic DNA. No translation available.
    AC068039 Genomic DNA. Translation: AAY24134.1 .
    AC114745 Genomic DNA. No translation available.
    CH471058 Genomic DNA. Translation: EAX11196.1 .
    BC016932 mRNA. Translation: AAH16932.1 .
    CCDSi CCDS33327.1. [O75746-1 ]
    RefSeqi NP_003696.2. NM_003705.4. [O75746-1 ]
    UniGenei Hs.470608.

    3D structure databases

    ProteinModelPortali O75746.
    SMRi O75746. Positions 19-285, 330-602.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114164. 17 interactions.
    IntActi O75746. 10 interactions.
    STRINGi 9606.ENSP00000388658.

    Chemistry

    DrugBanki DB00128. L-Aspartic Acid.

    Protein family/group databases

    TCDBi 2.A.29.14.1. the mitochondrial carrier (mc) family.

    PTM databases

    PhosphoSitei O75746.

    Proteomic databases

    MaxQBi O75746.
    PaxDbi O75746.
    PRIDEi O75746.

    Protocols and materials databases

    DNASUi 8604.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000422440 ; ENSP00000388658 ; ENSG00000115840 . [O75746-1 ]
    GeneIDi 8604.
    KEGGi hsa:8604.
    UCSCi uc002uhh.3. human. [O75746-1 ]

    Organism-specific databases

    CTDi 8604.
    GeneCardsi GC02M172604.
    H-InvDB HIX0002590.
    HGNCi HGNC:10982. SLC25A12.
    HPAi HPA035333.
    MIMi 603667. gene.
    612949. phenotype.
    neXtProti NX_O75746.
    Orphaneti 353217. Epileptic encephalopathy with global cerebral demyelination.
    PharmGKBi PA35858.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG292991.
    HOGENOMi HOG000180633.
    HOVERGENi HBG005350.
    InParanoidi O75746.
    KOi K15105.
    OMAi FESVLCT.
    OrthoDBi EOG70GMF1.
    PhylomeDBi O75746.
    TreeFami TF313209.

    Enzyme and pathway databases

    Reactomei REACT_118595. Mitochondrial protein import.
    REACT_1520. Gluconeogenesis.

    Miscellaneous databases

    GeneWikii SLC25A12.
    GenomeRNAii 8604.
    NextBioi 32241.
    PROi O75746.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75746.
    Bgeei O75746.
    CleanExi HS_SLC25A12.
    Genevestigatori O75746.

    Family and domain databases

    Gene3Di 1.10.238.10. 2 hits.
    1.50.40.10. 1 hit.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    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. 3 hits.
    [Graphical view ]
    SUPFAMi SSF103506. SSF103506. 1 hit.
    PROSITEi PS00018. EF_HAND_1. 1 hit.
    PS50222. EF_HAND_2. 2 hits.
    PS50920. SOLCAR. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain."
      Del Arco A., Satrustegui J.
      J. Biol. Chem. 273:23327-23334(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, CALCIUM-BINDING.
      Tissue: Heart.
    2. "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 1), FUNCTION.
      Tissue: Heart.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Caudate nucleus.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [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: Lymph.
    7. "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: TISSUE SPECIFICITY.
    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. Cited for: VARIANT GCHM ARG-590, CHARACTERIZATION OF VARIANT GCHM ARG-590.

    Entry informationi

    Entry nameiCMC1_HUMAN
    AccessioniPrimary (citable) accession number: O75746
    Secondary accession number(s): B3KR64, Q96AM8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: September 23, 2008
    Last modified: October 1, 2014
    This is version 138 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 2
      Human chromosome 2: 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