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Q8NEM0

- MCPH1_HUMAN

UniProt

Q8NEM0 - MCPH1_HUMAN

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Protein

Microcephalin

Gene

MCPH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

GO - Biological processi

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

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. cytoskeleton Source: UniProtKB-KW
  3. nucleoplasm Source: Reactome
Complete GO annotation...

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

BgeeiQ8NEM0.
CleanExiHS_MCPH1.
ExpressionAtlasiQ8NEM0. baseline and differential.
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. 24 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.
GeneTreeiENSGT00390000018842.
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

        10         20         30         40         50
MAAPILKDVV AYVEVWSSNG TENYSKTFTT QLVDMGAKVS KTFNKQVTHV
60 70 80 90 100
IFKDGYQSTW DKAQKRGVKL VSVLWVEKCR TAGAHIDESL FPAANMNEHL
110 120 130 140 150
SSLIKKKRKC MQPKDFNFKT PENDKRFQKK FEKMAKELQR QKTNLDDDVP
160 170 180 190 200
ILLFESNGSL IYTPTIEINS RHHSAMEKRL QEMKEKRENL SPTSSQMIQQ
210 220 230 240 250
SHDNPSNSLC EAPLNISRDT LCSDEYFAGG LHSSFDDLCG NSGCGNQERK
260 270 280 290 300
LEGSINDIKS DVCISSLVLK ANNIHSSPSF THLDKSSPQK FLSNLSKEEI
310 320 330 340 350
NLQRNIAGKV VTPDQKQAAG MSQETFEEKY RLSPTLSSTK GHLLIHSRPR
360 370 380 390 400
SSSVKRKRVS HGSHSPPKEK CKRKRSTRRS IMPRLQLCRS EDRLQHVAGP
410 420 430 440 450
ALEALSCGES SYDDYFSPDN LKERYSENLP PESQLPSSPA QLSCRSLSKK
460 470 480 490 500
ERTSIFEMSD FSCVGKKTRT VDITNFTAKT ISSPRKTGNG EGRATSSCVT
510 520 530 540 550
SAPEEALRCC RQAGKEDACP EGNGFSYTIE DPALPKGHDD DLTPLEGSLE
560 570 580 590 600
EMKEAVGLKS TQNKGTTSKI SNSSEGEAQS EHEPCFIVDC NMETSTEEKE
610 620 630 640 650
NLPGGYSGSV KNRPTRHDVL DDSCDGFKDL IKPHEELKKS GRGKKPTRTL
660 670 680 690 700
VMTSMPSEKQ NVVIQVVDKL KGFSIAPDVC ETTTHVLSGK PLRTLNVLLG
710 720 730 740 750
IARGCWVLSY DWVLWSLELG HWISEEPFEL SHHFPAAPLC RSECHLSAGP
760 770 780 790 800
YRGTLFADQP VMFVSPASSP PVAKLCELVH LCGGRVSQVP RQASIVIGPY
810 820 830
SGKKKATVKY LSEKWVLDSI TQHKVCAPEN YLLSQ
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. 24 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.
GeneTreei ENSGT00390000018842.
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

Bgeei Q8NEM0.
CleanExi HS_MCPH1.
ExpressionAtlasi Q8NEM0. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 113 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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