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Q8NEM0

- MCPH1_HUMAN

UniProt

Q8NEM0 - MCPH1_HUMAN

Protein

Microcephalin

Gene

MCPH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.3 Publications

    GO - Molecular functioni

    1. identical protein binding Source: IntAct
    2. protein binding Source: IntAct

    GO - Biological processi

    1. cerebral cortex development Source: InterPro
    2. mitotic cell cycle Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_172744. Condensation of Prophase Chromosomes.
    SignaLinkiQ8NEM0.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Microcephalin
    Gene namesi
    Name:MCPH1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:6954. MCPH1.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-KW
    2. microtubule organizing center Source: UniProtKB-SubCell
    3. nucleoplasm Source: Reactome

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Microcephaly 1, primary, autosomal recessive (MCPH1) [MIM:251200]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271T → R in MCPH1; mild phenotype. 1 Publication
    VAR_046745

    Keywords - Diseasei

    Mental retardation, Primary microcephaly

    Organism-specific databases

    MIMi251200. phenotype.
    Orphaneti2512. Autosomal recessive primary microcephaly.
    52183. Premature chromosome condensation with microcephaly and intellectual disability.
    PharmGKBiPA30701.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 835835MicrocephalinPRO_0000096296Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei333 – 3331Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8NEM0.
    PaxDbiQ8NEM0.
    PRIDEiQ8NEM0.

    PTM databases

    PhosphoSiteiQ8NEM0.

    Expressioni

    Tissue specificityi

    Expressed in fetal brain, liver and kidney.1 Publication

    Gene expression databases

    ArrayExpressiQ8NEM0.
    BgeeiQ8NEM0.
    CleanExiHS_MCPH1.
    GenevestigatoriQ8NEM0.

    Organism-specific databases

    HPAiCAB012177.
    HPA008238.

    Interactioni

    Subunit structurei

    Interacts with CDC27 and maybe other components of the APC/C complex. Interacts with histone variant H2AFX under DNA damage conditions.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself2EBI-1565483,EBI-1565483
    E2F1Q010946EBI-1565483,EBI-448924

    Protein-protein interaction databases

    BioGridi122776. 23 interactions.
    DIPiDIP-39802N.
    IntActiQ8NEM0. 7 interactions.
    STRINGi9606.ENSP00000342924.

    Structurei

    Secondary structure

    1
    835
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Turni5 – 84
    Beta strandi10 – 167
    Helixi25 – 3410
    Beta strandi49 – 546
    Helixi57 – 6610
    Beta strandi69 – 713
    Helixi73 – 8210
    Helixi88 – 903
    Turni96 – 994
    Beta strandi649 – 6546
    Helixi657 – 67014
    Beta strandi674 – 6785
    Beta strandi683 – 6908
    Helixi695 – 7028
    Beta strandi706 – 7094
    Helixi711 – 7199
    Helixi726 – 7283
    Turni731 – 7333
    Helixi736 – 74611
    Beta strandi748 – 7503
    Turni755 – 7584
    Beta strandi762 – 7643
    Helixi772 – 78110
    Beta strandi786 – 7894
    Helixi790 – 7923
    Beta strandi794 – 7985
    Beta strandi809 – 8113
    Helixi813 – 82210
    Helixi828 – 8314

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2WT8X-ray1.60A/B/C/D1-95[»]
    3KTFX-ray1.60A/B/C1-101[»]
    3PA6X-ray1.50A/B/C1-105[»]
    3SHTX-ray1.95A/B/C639-835[»]
    3SHVX-ray2.10A/B639-835[»]
    3SZMX-ray2.63A/B/C/D/E/F/G/H640-835[»]
    3T1NX-ray2.60A/B640-835[»]
    3U3ZX-ray1.50A640-835[»]
    ProteinModelPortaliQ8NEM0.
    SMRiQ8NEM0. Positions 2-100, 646-834.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ8NEM0.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 9393BRCT 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini640 – 73091BRCT 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini751 – 83383BRCT 3PROSITE-ProRule annotationAdd
    BLAST

    Domaini

    BRCT domain 1 is required to prevent abnormal chromosome condensation. It binds directly to the SWI-SNF chromatin remodeling complex (PubMed:19925808).1 Publication
    BRCT domains 2 and 3 recognize phosphoserine/phosphothreonine marks on proteins with high selectivity, and mediate interaction with phosphorylated CDC27. They also mediate the dual recognition of phosphoserine and phosphotyrosine in the C-terminal tail of histone H2AFX (PubMed:22139841, PubMed:22908299 and PubMed:22908299).

    Sequence similaritiesi

    Contains 3 BRCT domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG293743.
    HOGENOMiHOG000113501.
    HOVERGENiHBG052433.
    InParanoidiQ8NEM0.
    OrthoDBiEOG7VX8X3.
    PhylomeDBiQ8NEM0.
    TreeFamiTF332942.

    Family and domain databases

    Gene3Di3.40.50.10190. 3 hits.
    InterProiIPR001357. BRCT_dom.
    IPR022047. Microcephalin-like.
    IPR029504. Microcephalin_mammal.
    [Graphical view]
    PANTHERiPTHR14625. PTHR14625. 1 hit.
    PfamiPF00533. BRCT. 1 hit.
    PF12258. Microcephalin. 1 hit.
    PF12738. PTCB-BRCT. 1 hit.
    [Graphical view]
    SMARTiSM00292. BRCT. 3 hits.
    [Graphical view]
    SUPFAMiSSF52113. SSF52113. 3 hits.
    PROSITEiPS50172. BRCT. 3 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NEM0-1) [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

    MAAPILKDVV AYVEVWSSNG TENYSKTFTT QLVDMGAKVS KTFNKQVTHV    50
    IFKDGYQSTW DKAQKRGVKL VSVLWVEKCR TAGAHIDESL FPAANMNEHL 100
    SSLIKKKRKC MQPKDFNFKT PENDKRFQKK FEKMAKELQR QKTNLDDDVP 150
    ILLFESNGSL IYTPTIEINS RHHSAMEKRL QEMKEKRENL SPTSSQMIQQ 200
    SHDNPSNSLC EAPLNISRDT LCSDEYFAGG LHSSFDDLCG NSGCGNQERK 250
    LEGSINDIKS DVCISSLVLK ANNIHSSPSF THLDKSSPQK FLSNLSKEEI 300
    NLQRNIAGKV VTPDQKQAAG MSQETFEEKY RLSPTLSSTK GHLLIHSRPR 350
    SSSVKRKRVS HGSHSPPKEK CKRKRSTRRS IMPRLQLCRS EDRLQHVAGP 400
    ALEALSCGES SYDDYFSPDN LKERYSENLP PESQLPSSPA QLSCRSLSKK 450
    ERTSIFEMSD FSCVGKKTRT VDITNFTAKT ISSPRKTGNG EGRATSSCVT 500
    SAPEEALRCC RQAGKEDACP EGNGFSYTIE DPALPKGHDD DLTPLEGSLE 550
    EMKEAVGLKS TQNKGTTSKI SNSSEGEAQS EHEPCFIVDC NMETSTEEKE 600
    NLPGGYSGSV KNRPTRHDVL DDSCDGFKDL IKPHEELKKS GRGKKPTRTL 650
    VMTSMPSEKQ NVVIQVVDKL KGFSIAPDVC ETTTHVLSGK PLRTLNVLLG 700
    IARGCWVLSY DWVLWSLELG HWISEEPFEL SHHFPAAPLC RSECHLSAGP 750
    YRGTLFADQP VMFVSPASSP PVAKLCELVH LCGGRVSQVP RQASIVIGPY 800
    SGKKKATVKY LSEKWVLDSI TQHKVCAPEN YLLSQ 835
    Length:835
    Mass (Da):92,877
    Last modified:May 18, 2010 - v3
    Checksum:iD1797320C5D0D928
    GO
    Isoform 2 (identifier: Q8NEM0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         146-194: DDDVPILLFESNGSLIYTPTIEINSRHHSAMEKRLQEMKEKRENLSPTS → A
         610-610: V → M
         611-835: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:562
    Mass (Da):62,333
    Checksum:iFEF23EDAC81BBF8E
    GO
    Isoform 3 (identifier: Q8NEM0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         610-610: V → M
         611-835: Missing.

    Show »
    Length:610
    Mass (Da):67,915
    Checksum:i615DA760A3F01C09
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271T → R in MCPH1; mild phenotype. 1 Publication
    VAR_046745
    Natural varianti171 – 1711R → S.4 Publications
    Corresponds to variant rs2442513 [ dbSNP | Ensembl ].
    VAR_046746
    Natural varianti212 – 2121A → T.
    Corresponds to variant rs2922828 [ dbSNP | Ensembl ].
    VAR_046747
    Natural varianti264 – 2641I → V.
    Corresponds to variant rs34121009 [ dbSNP | Ensembl ].
    VAR_046748
    Natural varianti288 – 2881P → H.
    Corresponds to variant rs35590577 [ dbSNP | Ensembl ].
    VAR_046749
    Natural varianti304 – 3041R → I.
    Corresponds to variant rs2083914 [ dbSNP | Ensembl ].
    VAR_046750
    Natural varianti314 – 3141D → H.4 Publications
    Corresponds to variant rs930557 [ dbSNP | Ensembl ].
    VAR_046751
    Natural varianti392 – 3921D → G.4 Publications
    Corresponds to variant rs2515569 [ dbSNP | Ensembl ].
    VAR_046752
    Natural varianti580 – 5801S → G.
    Corresponds to variant rs17076894 [ dbSNP | Ensembl ].
    VAR_046753
    Natural varianti602 – 6021L → F.
    Corresponds to variant rs34418490 [ dbSNP | Ensembl ].
    VAR_046754
    Natural varianti682 – 6821T → N.
    Corresponds to variant rs12674488 [ dbSNP | Ensembl ].
    VAR_046755
    Natural varianti761 – 7611V → A May be associated with cranial volume variation in males in a Chinese population. 1 Publication
    Corresponds to variant rs1057090 [ dbSNP | Ensembl ].
    VAR_046756
    Natural varianti828 – 8281P → S.1 Publication
    Corresponds to variant rs1057091 [ dbSNP | Ensembl ].
    VAR_046757

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei146 – 19449DDDVP…LSPTS → A in isoform 2. 2 PublicationsVSP_046135Add
    BLAST
    Alternative sequencei610 – 6101V → M in isoform 2 and isoform 3. 2 PublicationsVSP_046136
    Alternative sequencei611 – 835225Missing in isoform 2 and isoform 3. 2 PublicationsVSP_046137Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AX087870 mRNA. Translation: CAC34661.1.
    AK022909 mRNA. Translation: BAB14304.1.
    AK301702 mRNA. Translation: BAG63174.1.
    AC016065 Genomic DNA. No translation available.
    AC018398 Genomic DNA. No translation available.
    AF287957 Genomic DNA. No translation available.
    BC030702 mRNA. Translation: AAH30702.2.
    BK004076 mRNA. Translation: DAA04567.1.
    CCDSiCCDS43689.1. [Q8NEM0-1]
    CCDS55190.1. [Q8NEM0-3]
    CCDS55191.1. [Q8NEM0-2]
    RefSeqiNP_001166045.1. NM_001172574.1.
    NP_001166046.1. NM_001172575.1. [Q8NEM0-2]
    NP_078872.2. NM_024596.3.
    UniGeneiHs.656769.
    Hs.708770.

    Genome annotation databases

    EnsembliENST00000519480; ENSP00000430962; ENSG00000147316. [Q8NEM0-3]
    ENST00000522905; ENSP00000430768; ENSG00000147316. [Q8NEM0-2]
    GeneIDi79648.
    KEGGihsa:79648.
    UCSCiuc003wqi.3. human. [Q8NEM0-1]

    Polymorphism databases

    DMDMi296439305.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    A grey matter - Issue 64 of November 2005

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AX087870 mRNA. Translation: CAC34661.1 .
    AK022909 mRNA. Translation: BAB14304.1 .
    AK301702 mRNA. Translation: BAG63174.1 .
    AC016065 Genomic DNA. No translation available.
    AC018398 Genomic DNA. No translation available.
    AF287957 Genomic DNA. No translation available.
    BC030702 mRNA. Translation: AAH30702.2 .
    BK004076 mRNA. Translation: DAA04567.1 .
    CCDSi CCDS43689.1. [Q8NEM0-1 ]
    CCDS55190.1. [Q8NEM0-3 ]
    CCDS55191.1. [Q8NEM0-2 ]
    RefSeqi NP_001166045.1. NM_001172574.1.
    NP_001166046.1. NM_001172575.1. [Q8NEM0-2 ]
    NP_078872.2. NM_024596.3.
    UniGenei Hs.656769.
    Hs.708770.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2WT8 X-ray 1.60 A/B/C/D 1-95 [» ]
    3KTF X-ray 1.60 A/B/C 1-101 [» ]
    3PA6 X-ray 1.50 A/B/C 1-105 [» ]
    3SHT X-ray 1.95 A/B/C 639-835 [» ]
    3SHV X-ray 2.10 A/B 639-835 [» ]
    3SZM X-ray 2.63 A/B/C/D/E/F/G/H 640-835 [» ]
    3T1N X-ray 2.60 A/B 640-835 [» ]
    3U3Z X-ray 1.50 A 640-835 [» ]
    ProteinModelPortali Q8NEM0.
    SMRi Q8NEM0. Positions 2-100, 646-834.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122776. 23 interactions.
    DIPi DIP-39802N.
    IntActi Q8NEM0. 7 interactions.
    STRINGi 9606.ENSP00000342924.

    PTM databases

    PhosphoSitei Q8NEM0.

    Polymorphism databases

    DMDMi 296439305.

    Proteomic databases

    MaxQBi Q8NEM0.
    PaxDbi Q8NEM0.
    PRIDEi Q8NEM0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000519480 ; ENSP00000430962 ; ENSG00000147316 . [Q8NEM0-3 ]
    ENST00000522905 ; ENSP00000430768 ; ENSG00000147316 . [Q8NEM0-2 ]
    GeneIDi 79648.
    KEGGi hsa:79648.
    UCSCi uc003wqi.3. human. [Q8NEM0-1 ]

    Organism-specific databases

    CTDi 79648.
    GeneCardsi GC08P006276.
    GeneReviewsi MCPH1.
    HGNCi HGNC:6954. MCPH1.
    HPAi CAB012177.
    HPA008238.
    MIMi 251200. phenotype.
    607117. gene.
    neXtProti NX_Q8NEM0.
    Orphaneti 2512. Autosomal recessive primary microcephaly.
    52183. Premature chromosome condensation with microcephaly and intellectual disability.
    PharmGKBi PA30701.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG293743.
    HOGENOMi HOG000113501.
    HOVERGENi HBG052433.
    InParanoidi Q8NEM0.
    OrthoDBi EOG7VX8X3.
    PhylomeDBi Q8NEM0.
    TreeFami TF332942.

    Enzyme and pathway databases

    Reactomei REACT_172744. Condensation of Prophase Chromosomes.
    SignaLinki Q8NEM0.

    Miscellaneous databases

    ChiTaRSi MCPH1. human.
    EvolutionaryTracei Q8NEM0.
    GenomeRNAii 79648.
    NextBioi 35501988.
    PROi Q8NEM0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NEM0.
    Bgeei Q8NEM0.
    CleanExi HS_MCPH1.
    Genevestigatori Q8NEM0.

    Family and domain databases

    Gene3Di 3.40.50.10190. 3 hits.
    InterProi IPR001357. BRCT_dom.
    IPR022047. Microcephalin-like.
    IPR029504. Microcephalin_mammal.
    [Graphical view ]
    PANTHERi PTHR14625. PTHR14625. 1 hit.
    Pfami PF00533. BRCT. 1 hit.
    PF12258. Microcephalin. 1 hit.
    PF12738. PTCB-BRCT. 1 hit.
    [Graphical view ]
    SMARTi SM00292. BRCT. 3 hits.
    [Graphical view ]
    SUPFAMi SSF52113. SSF52113. 3 hits.
    PROSITEi PS50172. BRCT. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prostate cancer-related gene 3 (pg3) and biallelic markers thereof."
      Barry C., Chumakov I., Blumenfeld M.
      Patent number WO0114550, 01-MAR-2001
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS SER-171 AND GLY-392.
    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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 96-835, VARIANTS SER-171; HIS-314 AND GLY-392.
      Tissue: Testis.
    3. "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].
    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] (ISOFORM 2), VARIANTS SER-171; HIS-314 AND GLY-392.
      Tissue: Testis.
    5. Lin S.-Y., Elledge S.J.
      Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-835 (ISOFORM 1), VARIANTS SER-171; HIS-314 AND GLY-392.
    6. Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN MCPH1.
    7. Cited for: FUNCTION, INVOLVEMENT IN MCPH1.
    8. "Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1."
      Xu X., Lee J., Stern D.F.
      J. Biol. Chem. 279:34091-34094(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    9. "Microcephalin encodes a centrosomal protein."
      Zhong X., Pfeifer G.P., Xu X.
      Cell Cycle 5:457-458(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-333, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "A pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation."
      Richards M.W., Leung J.W., Roe S.M., Li K., Chen J., Bayliss R.
      J. Mol. Biol. 395:908-915(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 1-95.
    12. "Molecular basis for the association of microcephalin (MCPH1) protein with the cell division cycle protein 27 (Cdc27) subunit of the anaphase-promoting complex."
      Singh N., Wiltshire T.D., Thompson J.R., Mer G., Couch F.J.
      J. Biol. Chem. 287:2854-2862(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 640-835 IN COMPLEX WITH PHOSPHORYLATED CDC27 PEPTIDE.
    13. "Specific recognition of phosphorylated tail of H2AX by the tandem BRCT domains of MCPH1 revealed by complex structure."
      Shao Z., Li F., Sy S.M., Yan W., Zhang Z., Gong D., Wen B., Huen M.S., Gong Q., Wu J., Shi Y.
      J. Struct. Biol. 177:459-468(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 639-835 OF MUTANT ALA-761 ALONE AND IN COMPLEX WITH H2FAX PEPTIDE.
    14. "Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1."
      Singh N., Basnet H., Wiltshire T.D., Mohammad D.H., Thompson J.R., Heroux A., Botuyan M.V., Yaffe M.B., Couch F.J., Rosenfeld M.G., Mer G.
      Proc. Natl. Acad. Sci. U.S.A. 109:14381-14386(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 640-835.
    15. "The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype."
      Trimborn M., Richter R., Sternberg N., Gavvovidis I., Schindler D., Jackson A.P., Prott E.-C., Sperling K., Gillessen-Kaesbach G., Neitzel H.
      Hum. Mutat. 26:496-496(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MCPH1 ARG-27.
    16. "A common SNP of MCPH1 is associated with cranial volume variation in Chinese population."
      Wang J.-K., Li Y., Su B.
      Hum. Mol. Genet. 17:1329-1335(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HIS-314; ALA-761 AND SER-828.

    Entry informationi

    Entry nameiMCPH1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NEM0
    Secondary accession number(s): B4DWW2
    , E9PGU5, E9PH63, Q66GU1, Q9H9C7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 24, 2004
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 112 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

    Miscellaneous

    MCPH1 deficient cells exhibit a delay in post-mitotic chromosome decondensation.

    Keywords - Technical termi

    3D-structure, 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. 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. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

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