MCPH1
entrez
79648
canonical
uniprot
Q8NEM0
canonical
ensembl
ENSG00000147316
resolver
ensp
ENSP00000342924
resolver
ensp
ENSP00000430768
resolver
ensp
ENSP00000430962
resolver
ensp
ENSP00000509054
resolver
ensp
ENSP00000509072
resolver
ensp
ENSP00000509554
resolver
ensp
ENSP00000510001
resolver
ensp
ENSP00000510536
resolver
ensp
ENSP00000510652
resolver
ensp
ENSP00000603227
resolver
ensp
ENSP00000756308
resolver
ensp
ENSP00000764096
resolver
ensp
ENSP00000785916
resolver
ensp
ENSP00000791499
resolver
enst
ENST00000685179
resolver
enst
ENST00000689348
resolver
enst
ENST00000689633
resolver
enst
ENST00000690826
resolver
enst
ENST00000691435
resolver
enst
ENST00000692938
resolver
genesymbol
MCPH1
resolver
hgnc
HGNC:6954
resolver
uniprot
A0A075B6F8
resolver
uniprot
A0A8I5KPV6
resolver
uniprot
A0A8I5KR64
resolver
uniprot
A0A8I5KR97
resolver
uniprot
A0A8I5KV10
resolver
uniprot
A0A8I5KW78
resolver
uniprot
A0A8I5KZ89
resolver
uniprot
B4DWW2
resolver
uniprot
E9PGU5
resolver
uniprot
E9PH63
resolver
uniprot
Q66GU1
resolver
uniprot
Q9H9C7
resolver
uniprot_entry
A0A8I5KPV6_HUMAN
resolver
uniprot_entry
A0A8I5KR64_HUMAN
resolver
uniprot_entry
A0A8I5KR97_HUMAN
resolver
uniprot_entry
A0A8I5KV10_HUMAN
resolver
uniprot_entry
A0A8I5KW78_HUMAN
resolver
uniprot_entry
A0A8I5KZ89_HUMAN
resolver
uniprot_entry
MCPH1_HUMAN
resolver
uniprot_sec
A0A075B6F8
resolver
uniprot_sec
B4DWW2
resolver
uniprot_sec
E9PGU5
resolver
uniprot_sec
E9PH63
resolver
uniprot_sec
Q66GU1
resolver
uniprot_sec
Q9H9C7
resolver
amino_acid_sequence
MAAPILKDVVAYVEVWSSNGTENYSKTFTTQLVDMGAKVSKTFNKQVTHVIFKDGYQSTWDKAQKRGVKLVSVLWVEKCRTAGAHIDESLFPAANMNEHLSSLIKKKRKCMQPKDFNFKTPENDKRFQKKFEKMAKELQRQKTNLDDDVPILLFESNGSLIYTPTIEINSRHHSAMEKRLQEMKEKRENLSPTSSQMIQQSHDNPSNSLCEAPLNISRDTLCSDEYFAGGLHSSFDDLCGNSGCGNQERKLEGSINDIKSDVCISSLVLKANNIHSSPSFTHLDKSSPQKFLSNLSKEEINLQRNIAGKVVTPDQKQAAGMSQETFEEKYRLSPTLSSTKGHLLIHSRPRSSSVKRKRVSHGSHSPPKEKCKRKRSTRRSIMPRLQLCRSEDRLQHVAGPALEALSCGESSYDDYFSPDNLKERYSENLPPESQLPSSPAQLSCRSLSKKERTSIFEMSDFSCVGKKTRTVDITNFTAKTISSPRKTGNGEGRATSSCVTSAPEEALRCCRQAGKEDACPEGNGFSYTIEDPALPKGHDDDLTPLEGSLEEMKEAVGLKSTQNKGTTSKISNSSEGEAQSEHEPCFIVDCNMETSTEEKENLPGGYSGSVKNRPTRHDVLDDSCDGFKDLIKPHEELKKSGRGKKPTRTLVMTSMPSEKQNVVIQVVDKLKGFSIAPDVCETTTHVLSGKPLRTLNVLLGIARGCWVLSYDWVLWSLELGHWISEEPFELSHHFPAAPLCRSECHLSAGPYRGTLFADQPAMFVSPASSPPVAKLCELVHLCGGRVSQVPRQASIVIGPYSGKKKATVKYLSEKWVLDSITQHKVCAPENYLLSQ
uniprot
proteins
disease_involvement
DISEASE: 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 have mild to severe intellectual disability. 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. {ECO:0000269|PubMed:12046007, ECO:0000269|PubMed:15199523, ECO:0000269|PubMed:16211557}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:12046007, ECO:0000269|PubMed:15199523, ECO:0000269|PubMed:15220350}.
uniprot
proteins
mass_dalton
92849
uniprot
proteins
pubmed
12046007
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15199523
uniprot
proteins
pubmed
15220350
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16211557
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
16479174
uniprot
proteins
pubmed
18204051
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19925808
uniprot
proteins
pubmed
22139841
uniprot
proteins
pubmed
22154951
uniprot
proteins
pubmed
22908299
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
835
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16479174}.
uniprot
proteins