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HUMAN:MCPH1

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) MCPH1
Protein Name(s) Microcephalin
External Links
UniProt Q8NEM0
EMBL AX087870
AK022909
AK301702
AC016065
AC018398
AF287957
BC030702
BK004076
CCDS CCDS43689.1
CCDS55190.1
CCDS55191.1
RefSeq NP_001166045.1
NP_001166046.1
NP_078872.2
UniGene Hs.656769
Hs.708770
PDB 2WT8
3KTF
3PA6
3SHT
3SHV
3SZM
3T1N
3U3Z
PDBsum 2WT8
3KTF
3PA6
3SHT
3SHV
3SZM
3T1N
3U3Z
ProteinModelPortal Q8NEM0
SMR Q8NEM0
BioGrid 122776
DIP DIP-39802N
IntAct Q8NEM0
STRING 9606.ENSP00000342924
PhosphoSite Q8NEM0
DMDM 296439305
MaxQB Q8NEM0
PaxDb Q8NEM0
PRIDE Q8NEM0
Ensembl ENST00000519480
ENST00000522905
GeneID 79648
KEGG hsa:79648
UCSC uc003wqi.3
CTD 79648
GeneCards GC08P006276
GeneReviews MCPH1
HGNC HGNC:6954
HPA CAB012177
HPA008238
MIM 251200
607117
neXtProt NX_Q8NEM0
Orphanet 2512
52183
PharmGKB PA30701
eggNOG NOG293743
GeneTree ENSGT00390000018842
HOGENOM HOG000113501
HOVERGEN HBG052433
InParanoid Q8NEM0
OrthoDB EOG7VX8X3
PhylomeDB Q8NEM0
TreeFam TF332942
Reactome REACT_172744
SignaLink Q8NEM0
ChiTaRS MCPH1
EvolutionaryTrace Q8NEM0
GenomeRNAi 79648
NextBio 35501988
PRO PR:Q8NEM0
Proteomes UP000005640
Bgee Q8NEM0
CleanEx HS_MCPH1
ExpressionAtlas Q8NEM0
Genevestigator Q8NEM0
GO GO:0005737
GO:0005815
GO:0005654
GO:0042802
GO:0021987
GO:0000278
Gene3D 3.40.50.10190
InterPro IPR001357
IPR022047
IPR029504
PANTHER PTHR14625
Pfam PF00533
PF12258
PF12738
SMART SM00292
SUPFAM SSF52113
PROSITE PS50172

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0071850

mitotic cell cycle arrest

PMID:24633962[1]

ECO:0000314

P

Figure 5: Shows that cells with overexpression of MCPH1 protein induces S phase cell cycle arrest

complete
CACAO 10024

involved_in

GO:0000122

negative regulation of transcription by RNA polymerase II

PMID:12837246[2]

ECO:0000314

direct assay evidence used in manual assertion

P

regulates_transcription_of:(ENSEMBL:ENSG00000164362)

Seeded From UniProt

complete

involved_in

GO:0071850

mitotic cell cycle arrest

PMID:24633962[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:18660752[3]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q8NEM0

F

Seeded From UniProt

complete

involved_in

GO:0097150

neuronal stem cell population maintenance

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q7TT79
ensembl:ENSMUSP00000037000

P

Seeded From UniProt

complete

involved_in

GO:0071539

protein localization to centrosome

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q7TT79
ensembl:ENSMUSP00000037000

P

Seeded From UniProt

complete

involved_in

GO:0060623

regulation of chromosome condensation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q7TT79
ensembl:ENSMUSP00000037000

P

Seeded From UniProt

complete

involved_in

GO:0060348

bone development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q7TT79
ensembl:ENSMUSP00000037000

P

Seeded From UniProt

complete

involved_in

GO:0050727

regulation of inflammatory response

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q7TT79
ensembl:ENSMUSP00000037000

P

Seeded From UniProt

complete

involved_in

GO:0046605

regulation of centrosome cycle

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q7TT79
ensembl:ENSMUSP00000037000

P

Seeded From UniProt

complete

involved_in

GO:0043549

regulation of kinase activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q7TT79
ensembl:ENSMUSP00000037000

P

Seeded From UniProt

complete

involved_in

GO:0021987

cerebral cortex development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q7TT79
ensembl:ENSMUSP00000037000

P

Seeded From UniProt

complete

involved_in

GO:0010468

regulation of gene expression

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q7TT79
ensembl:ENSMUSP00000037000

P

Seeded From UniProt

complete

involved_in

GO:0000132

establishment of mitotic spindle orientation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q7TT79
ensembl:ENSMUSP00000037000

P

Seeded From UniProt

complete

involved_in

GO:0021987

cerebral cortex development

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR029504

P

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-HSA-2429719

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005856

cytoskeleton

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0206

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963

C

Seeded From UniProt

complete

part_of

GO:0005815

microtubule organizing center

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0048

C

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 Mai, L et al. (2014) The overexpression of MCPH1 inhibits cell growth through regulating cell cycle-related proteins and activating cytochrome c-caspase 3 signaling in cervical cancer. Mol. Cell. Biochem. 392 95-107 PubMed GONUTS page
  2. Lin, SY & Elledge, SJ (2003) Multiple tumor suppressor pathways negatively regulate telomerase. Cell 113 881-9 PubMed GONUTS page
  3. Yang, SZ et al. (2008) MCPH1/BRIT1 cooperates with E2F1 in the activation of checkpoint, DNA repair and apoptosis. EMBO Rep. 9 907-15 PubMed GONUTS page