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Q4G0Z9

- MCMD2_HUMAN

UniProt

Q4G0Z9 - MCMD2_HUMAN

Protein

MCM domain-containing protein 2

Gene

MCMDC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 72 (01 Oct 2014)
      Sequence version 3 (20 Apr 2010)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. ATP binding Source: InterPro
    2. DNA binding Source: InterPro

    GO - Biological processi

    1. DNA replication Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    MCM domain-containing protein 2
    Gene namesi
    Name:MCMDC2
    Synonyms:C8orf45
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:26368. MCMDC2.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672364.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 681681MCM domain-containing protein 2PRO_0000255258Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei292 – 2921Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ4G0Z9.
    PRIDEiQ4G0Z9.

    PTM databases

    PhosphoSiteiQ4G0Z9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ4G0Z9.
    BgeeiQ4G0Z9.
    CleanExiHS_C8orf45.
    GenevestigatoriQ4G0Z9.

    Organism-specific databases

    HPAiHPA026522.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000413632.

    Structurei

    3D structure databases

    ProteinModelPortaliQ4G0Z9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini533 – 62189MCMAdd
    BLAST

    Sequence similaritiesi

    Contains 1 MCM domain.Curated

    Phylogenomic databases

    eggNOGiNOG316873.
    HOGENOMiHOG000070159.
    HOVERGENiHBG081139.
    InParanoidiQ4G0Z9.
    OMAiKALHAFQ.
    OrthoDBiEOG7S7SDD.
    PhylomeDBiQ4G0Z9.
    TreeFamiTF332272.

    Family and domain databases

    InterProiIPR001208. MCM_DNA-dep_ATPase.
    [Graphical view]
    PfamiPF00493. MCM. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q4G0Z9-1) [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

    MSNLKMKEAA LIYLDRSGGL QKFIDDCKYY NDSKQSYAVY RFKILINPSD    50
    VVELDAELGN HILHQPLKAA EVFQSVCFIA VKTLSLIGQL QTETQINIVL 100
    KLTHLPPLPS YGLDLCEFPL DYTSQRFYMM QGIVIAMTTI TKYTQGARFL 150
    CSDEACPLSK GFQYIRVHVP GATESATIRN DFLCNLCASS LQEDRKFRVL 200
    GDKQIVEIIA TKALRAFQGY SNNQPFRFQS LTIFLRDESV NKMNIGNEYK 250
    IIGIPTCVKT SQTAVCIEAN SITFCNSKVP SGISDNFRCL LSLTSSSCWK 300
    FTAILANIFA SQITPPGTYN LLKLCLLMSL VQTTDRNKEL EDCLDILIIT 350
    SDTLLIDRLL NFSINLVPRG IRHLVSTEIF PTLSRNKYGT GAVSIQAGSA 400
    LLAKGGICFI GDLASHKKDK LEQLQTVLES RSITVYIPGK KFGEDIDQQM 450
    TFPVQCSFWS FVDVDSSSRR NAQKINTLIG QMDCSLIPAN LVEAFGLLIN 500
    CNESSPCHPF LPTVQHTLNK AINPEGLFYA ASRQFTTEDF EKLLAFAKNL 550
    NVEFSLEAER MTHGYYLASR RIRTGSVCGS KLSASALKYL VFLSEAHARL 600
    NLRNKVLKED VLIAALLFET SLTLKYGATV FCVAPNAVFP FELYNEEYLE 650
    QRDLYLTQCQ QQLEQFIATY GPGTTIFSSD E 681
    Length:681
    Mass (Da):76,219
    Last modified:April 20, 2010 - v3
    Checksum:i21FFAC8E243005BA
    GO
    Isoform 2 (identifier: Q4G0Z9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         591-681: Missing.

    Show »
    Length:590
    Mass (Da):65,838
    Checksum:i9EECC189AAEE1C48
    GO
    Isoform 3 (identifier: Q4G0Z9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-242: Missing.

    Show »
    Length:439
    Mass (Da):48,761
    Checksum:i7654BFE4316C3914
    GO
    Isoform 4 (identifier: Q4G0Z9-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-63: Missing.
         64-75: HQPLKAAEVFQS → MIASTTMVRSAK

    Show »
    Length:618
    Mass (Da):68,919
    Checksum:iC53B8ABF3869E76D
    GO

    Sequence cautioni

    The sequence AAH34576.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAH63108.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti94 – 941T → M in BAG63905. (PubMed:14702039)Curated
    Sequence conflicti164 – 1641Y → H in BAG65055. (PubMed:14702039)Curated
    Sequence conflicti168 – 1681H → Q in CAD97790. (PubMed:17974005)Curated
    Sequence conflicti258 – 2581V → I in CAD97790. (PubMed:17974005)Curated
    Sequence conflicti366 – 3661L → F in BAG65055. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti137 – 1371M → K.
    Corresponds to variant rs16933088 [ dbSNP | Ensembl ].
    VAR_028861
    Natural varianti322 – 3221L → V.
    Corresponds to variant rs17332410 [ dbSNP | Ensembl ].
    VAR_028862
    Natural varianti583 – 5831S → A.
    Corresponds to variant rs11778562 [ dbSNP | Ensembl ].
    VAR_028863

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 242242Missing in isoform 3. 1 PublicationVSP_038998Add
    BLAST
    Alternative sequencei1 – 6363Missing in isoform 4. 1 PublicationVSP_038999Add
    BLAST
    Alternative sequencei64 – 7512HQPLK…EVFQS → MIASTTMVRSAK in isoform 4. 1 PublicationVSP_039000Add
    BLAST
    Alternative sequencei591 – 68191Missing in isoform 2. 1 PublicationVSP_039001Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK302672 mRNA. Translation: BAG63905.1.
    AK303003 mRNA. Translation: BAG64136.1.
    AK304170 mRNA. Translation: BAG65055.1.
    AC011031 Genomic DNA. No translation available.
    BC034576 mRNA. Translation: AAH34576.2. Different initiation.
    BC063108 mRNA. Translation: AAH63108.1. Different initiation.
    BX537587 mRNA. Translation: CAD97790.2.
    CCDSiCCDS47869.1. [Q4G0Z9-2]
    CCDS6197.2. [Q4G0Z9-1]
    RefSeqiNP_001129633.1. NM_001136161.1. [Q4G0Z9-2]
    NP_775789.3. NM_173518.4. [Q4G0Z9-1]
    XP_005251231.1. XM_005251174.1. [Q4G0Z9-4]
    XP_006716495.1. XM_006716432.1. [Q4G0Z9-3]
    XP_006716496.1. XM_006716433.1. [Q4G0Z9-3]
    UniGeneiHs.437006.

    Genome annotation databases

    EnsembliENST00000396592; ENSP00000379837; ENSG00000178460. [Q4G0Z9-2]
    ENST00000422365; ENSP00000413632; ENSG00000178460. [Q4G0Z9-1]
    GeneIDi157777.
    KEGGihsa:157777.
    UCSCiuc003xwz.4. human. [Q4G0Z9-1]
    uc011lew.2. human. [Q4G0Z9-4]

    Polymorphism databases

    DMDMi294862519.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK302672 mRNA. Translation: BAG63905.1 .
    AK303003 mRNA. Translation: BAG64136.1 .
    AK304170 mRNA. Translation: BAG65055.1 .
    AC011031 Genomic DNA. No translation available.
    BC034576 mRNA. Translation: AAH34576.2 . Different initiation.
    BC063108 mRNA. Translation: AAH63108.1 . Different initiation.
    BX537587 mRNA. Translation: CAD97790.2 .
    CCDSi CCDS47869.1. [Q4G0Z9-2 ]
    CCDS6197.2. [Q4G0Z9-1 ]
    RefSeqi NP_001129633.1. NM_001136161.1. [Q4G0Z9-2 ]
    NP_775789.3. NM_173518.4. [Q4G0Z9-1 ]
    XP_005251231.1. XM_005251174.1. [Q4G0Z9-4 ]
    XP_006716495.1. XM_006716432.1. [Q4G0Z9-3 ]
    XP_006716496.1. XM_006716433.1. [Q4G0Z9-3 ]
    UniGenei Hs.437006.

    3D structure databases

    ProteinModelPortali Q4G0Z9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000413632.

    PTM databases

    PhosphoSitei Q4G0Z9.

    Polymorphism databases

    DMDMi 294862519.

    Proteomic databases

    PaxDbi Q4G0Z9.
    PRIDEi Q4G0Z9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000396592 ; ENSP00000379837 ; ENSG00000178460 . [Q4G0Z9-2 ]
    ENST00000422365 ; ENSP00000413632 ; ENSG00000178460 . [Q4G0Z9-1 ]
    GeneIDi 157777.
    KEGGi hsa:157777.
    UCSCi uc003xwz.4. human. [Q4G0Z9-1 ]
    uc011lew.2. human. [Q4G0Z9-4 ]

    Organism-specific databases

    CTDi 157777.
    GeneCardsi GC08P067783.
    H-InvDB HIX0007558.
    HGNCi HGNC:26368. MCMDC2.
    HPAi HPA026522.
    neXtProti NX_Q4G0Z9.
    PharmGKBi PA142672364.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG316873.
    HOGENOMi HOG000070159.
    HOVERGENi HBG081139.
    InParanoidi Q4G0Z9.
    OMAi KALHAFQ.
    OrthoDBi EOG7S7SDD.
    PhylomeDBi Q4G0Z9.
    TreeFami TF332272.

    Miscellaneous databases

    GenomeRNAii 157777.
    NextBioi 87554.
    PROi Q4G0Z9.

    Gene expression databases

    ArrayExpressi Q4G0Z9.
    Bgeei Q4G0Z9.
    CleanExi HS_C8orf45.
    Genevestigatori Q4G0Z9.

    Family and domain databases

    InterProi IPR001208. MCM_DNA-dep_ATPase.
    [Graphical view ]
    Pfami PF00493. MCM. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 1; 3 AND 4).
      Tissue: Testis and Trachea.
    2. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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 2).
      Tissue: Lung and Testis.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-357.
      Tissue: Rectum tumor.
    5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-292, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiMCMD2_HUMAN
    AccessioniPrimary (citable) accession number: Q4G0Z9
    Secondary accession number(s): B4DYZ3
    , B4DZM4, B4E293, Q6P533, Q7Z3P4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2006
    Last sequence update: April 20, 2010
    Last modified: October 1, 2014
    This is version 72 of the entry and version 3 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 8
      Human chromosome 8: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3