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Q9H081

- MIS12_HUMAN

UniProt

Q9H081 - MIS12_HUMAN

Protein

Protein MIS12 homolog

Gene

MIS12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis.3 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. chromosome segregation Source: UniProtKB
    2. kinetochore assembly Source: UniProtKB
    3. mitotic cell cycle Source: Reactome
    4. mitotic nuclear division Source: UniProtKB-KW

    Keywords - Biological processi

    Cell cycle, Cell division, Chromosome partition, Mitosis

    Enzyme and pathway databases

    ReactomeiREACT_150425. Resolution of Sister Chromatid Cohesion.
    REACT_150471. Separation of Sister Chromatids.
    REACT_682. Mitotic Prometaphase.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein MIS12 homolog
    Gene namesi
    Name:MIS12Imported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:24967. MIS12.

    Subcellular locationi

    Nucleus. Chromosomecentromerekinetochore
    Note: Associated with the kinetochore.

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. MIS12/MIND type complex Source: UniProtKB
    3. nucleus Source: LIFEdb

    Keywords - Cellular componenti

    Centromere, Chromosome, Kinetochore, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134951024.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 205205Protein MIS12 homologPRO_0000248234Add
    BLAST

    Proteomic databases

    MaxQBiQ9H081.
    PaxDbiQ9H081.
    PRIDEiQ9H081.

    PTM databases

    PhosphoSiteiQ9H081.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H081.
    BgeeiQ9H081.
    CleanExiHS_MIS12.
    GenevestigatoriQ9H081.

    Organism-specific databases

    HPAiHPA044482.

    Interactioni

    Subunit structurei

    Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Also interacts with CASC5, CBX3, CBX5, NDC80 and ZWINT.1 Publication

    Protein-protein interaction databases

    BioGridi122474. 31 interactions.
    IntActiQ9H081. 26 interactions.
    MINTiMINT-4718912.
    STRINGi9606.ENSP00000370557.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H081.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili108 – 20598Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the mis12 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG45566.
    HOGENOMiHOG000251597.
    HOVERGENiHBG055269.
    InParanoidiQ9H081.
    KOiK11543.
    OMAiPMAYEAQ.
    PhylomeDBiQ9H081.
    TreeFamiTF101136.

    Family and domain databases

    InterProiIPR008685. Centromere_Mis12.
    [Graphical view]
    PfamiPF05859. Mis12. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9H081-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSVDPMTYEA QFFGFTPQTC MLRIYIAFQD YLFEVMQAVE QVILKKLDGI    50
    PDCDISPVQI RKCTEKFLCF MKGHFDNLFS KMEQLFLQLI LRIPSNILLP 100
    EDKCKETPYS EEDFQHLQKE IEQLQEKYKT ELCTKQALLA ELEEQKIVQA 150
    KLKQTLTFFD ELHNVGRDHG TSDFRESLVS LVQNSRKLQN IRDNVEKESK 200
    RLKIS 205
    Length:205
    Mass (Da):24,140
    Last modified:March 1, 2001 - v1
    Checksum:i8CC906E843D4BD56
    GO

    Sequence cautioni

    The sequence AK056072 differs from that shown. Reason: Frameshift at position 147.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti21 – 211M → V.
    Corresponds to variant rs16954781 [ dbSNP | Ensembl ].
    VAR_034106

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136906 mRNA. Translation: CAB66840.1.
    AK056072 mRNA. No translation available.
    CR533460 mRNA. Translation: CAG38491.1.
    BC000229 mRNA. Translation: AAH00229.1.
    CCDSiCCDS11074.1.
    RefSeqiNP_001245146.1. NM_001258217.1.
    NP_001245147.1. NM_001258218.1.
    NP_001245148.1. NM_001258219.1.
    NP_001245149.1. NM_001258220.1.
    NP_076944.1. NM_024039.2.
    XP_005256854.1. XM_005256797.2.
    XP_005256855.1. XM_005256798.2.
    XP_006721638.1. XM_006721575.1.
    UniGeneiHs.267194.

    Genome annotation databases

    EnsembliENST00000381165; ENSP00000370557; ENSG00000167842.
    ENST00000573759; ENSP00000461252; ENSG00000167842.
    GeneIDi79003.
    KEGGihsa:79003.
    UCSCiuc002gcd.4. human.

    Polymorphism databases

    DMDMi74733516.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136906 mRNA. Translation: CAB66840.1 .
    AK056072 mRNA. No translation available.
    CR533460 mRNA. Translation: CAG38491.1 .
    BC000229 mRNA. Translation: AAH00229.1 .
    CCDSi CCDS11074.1.
    RefSeqi NP_001245146.1. NM_001258217.1.
    NP_001245147.1. NM_001258218.1.
    NP_001245148.1. NM_001258219.1.
    NP_001245149.1. NM_001258220.1.
    NP_076944.1. NM_024039.2.
    XP_005256854.1. XM_005256797.2.
    XP_005256855.1. XM_005256798.2.
    XP_006721638.1. XM_006721575.1.
    UniGenei Hs.267194.

    3D structure databases

    ProteinModelPortali Q9H081.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122474. 31 interactions.
    IntActi Q9H081. 26 interactions.
    MINTi MINT-4718912.
    STRINGi 9606.ENSP00000370557.

    PTM databases

    PhosphoSitei Q9H081.

    Polymorphism databases

    DMDMi 74733516.

    Proteomic databases

    MaxQBi Q9H081.
    PaxDbi Q9H081.
    PRIDEi Q9H081.

    Protocols and materials databases

    DNASUi 79003.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000381165 ; ENSP00000370557 ; ENSG00000167842 .
    ENST00000573759 ; ENSP00000461252 ; ENSG00000167842 .
    GeneIDi 79003.
    KEGGi hsa:79003.
    UCSCi uc002gcd.4. human.

    Organism-specific databases

    CTDi 79003.
    GeneCardsi GC17P005390.
    HGNCi HGNC:24967. MIS12.
    HPAi HPA044482.
    MIMi 609178. gene.
    neXtProti NX_Q9H081.
    PharmGKBi PA134951024.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45566.
    HOGENOMi HOG000251597.
    HOVERGENi HBG055269.
    InParanoidi Q9H081.
    KOi K11543.
    OMAi PMAYEAQ.
    PhylomeDBi Q9H081.
    TreeFami TF101136.

    Enzyme and pathway databases

    Reactomei REACT_150425. Resolution of Sister Chromatid Cohesion.
    REACT_150471. Separation of Sister Chromatids.
    REACT_682. Mitotic Prometaphase.

    Miscellaneous databases

    GeneWikii MIS12.
    GenomeRNAii 79003.
    NextBioi 67625.
    PROi Q9H081.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H081.
    Bgeei Q9H081.
    CleanExi HS_MIS12.
    Genevestigatori Q9H081.

    Family and domain databases

    InterProi IPR008685. Centromere_Mis12.
    [Graphical view ]
    Pfami PF05859. Mis12. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: TestisImported.
    2. "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].
    3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "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].
      Tissue: EyeImported.
    5. "Human centromere chromatin protein hMis12, essential for equal segregation, is independent of CENP-A loading pathway."
      Goshima G., Kiyomitsu T., Yoda K., Yanagida M.
      J. Cell Biol. 160:25-39(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    6. "A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1."
      Obuse C., Iwasaki O., Kiyomitsu T., Goshima G., Toyoda Y., Yanagida M.
      Nat. Cell Biol. 6:1135-1141(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH CASC5; CBX3; CBX5; DSN1; NDC80; NSL1; PMF1 AND ZWINT, SUBCELLULAR LOCATION.
    7. "The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation."
      Kline S.L., Cheeseman I.M., Hori T., Fukagawa T., Desai A.
      J. Cell Biol. 173:9-17(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, COMPONENT OF MIS12 COMPLEX, SUBCELLULAR LOCATION.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiMIS12_HUMAN
    AccessioniPrimary (citable) accession number: Q9H081
    Secondary accession number(s): Q96N24
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 5, 2006
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 101 of the entry and version 1 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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