PHC1
entrez
1911
canonical
uniprot
P78364
canonical
ensembl
ENSG00000111752
resolver
ensp
ENSP00000437659
resolver
ensp
ENSP00000440674
resolver
ensp
ENSP00000561365
resolver
ensp
ENSP00000561366
resolver
ensp
ENSP00000561367
resolver
ensp
ENSP00000561368
resolver
ensp
ENSP00000561369
resolver
ensp
ENSP00000606689
resolver
ensp
ENSP00000606693
resolver
ensp
ENSP00000606694
resolver
ensp
ENSP00000606697
resolver
ensp
ENSP00000606706
resolver
ensp
ENSP00000606709
resolver
ensp
ENSP00000606711
resolver
ensp
ENSP00000606718
resolver
ensp
ENSP00000606726
resolver
ensp
ENSP00000606727
resolver
ensp
ENSP00000606728
resolver
ensp
ENSP00000606730
resolver
ensp
ENSP00000606732
resolver
ensp
ENSP00000606733
resolver
ensp
ENSP00000606734
resolver
ensp
ENSP00000606735
resolver
enst
ENST00000543824
resolver
enst
ENST00000544916
resolver
enst
ENST00000891310
resolver
enst
ENST00000936667
resolver
enst
ENST00000936668
resolver
enst
ENST00000936669
resolver
enst
ENST00000936671
resolver
enst
ENST00000936673
resolver
enst
ENST00000936675
resolver
enst
ENST00000936676
resolver
genesymbol
PHC1
resolver
genesymbol_syn
EDR1
resolver
genesymbol_syn
PH1
resolver
hgnc
HGNC:3182
resolver
uniprot
D3DUV4
resolver
uniprot
Q6GMQ3
resolver
uniprot
Q8WVM3
resolver
uniprot
Q9BU63
resolver
uniprot_entry
PHC1_HUMAN
resolver
uniprot_entry
Q6GMQ3_HUMAN
resolver
uniprot_sec
D3DUV4
resolver
uniprot_sec
Q8WVM3
resolver
uniprot_sec
Q9BU63
resolver
amino_acid_sequence
METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQALQALQRQPNAAQYFHQFMLQQQLSNAQLHSLAAVQQATIAASRQASSPNTSTTQQQTTTTQASINLATTSAAQLISRSQSVSSPSATTLTQSVLLGNTTSPPLNQSQAQMYLRPQLGNLLQVNRTLGRNVPLASQLILMPNGAVAAVQQEVPSAQSPGVHADADQVQNLAVRNQQASAQGPQMQGSTQKAIPPGASPVSSLSQASSQALAVAQASSGATNQSLNLSQAGGGSGNSIPGSMGPGGGGQAHGGLGQLPSSGMGGGSCPRKGTGVVQPLPAAQTVTVSQGSQTEAESAAAKKAEADGSGQQNVGMNLTRTATPAPSQTLISSATYTQIQPHSLIQQQQQIHLQQKQVVIQQQIAIHHQQQFQHRQSQLLHTATHLQLAQQQQQQQQQQQQQQQPQATTLTAPQPPQVPPTQQVPPSQSQQQAQTLVVQPMLQSSPLSLPPDAAPKPPIPIQSKPPVAPIKPPQLGAAKMSAAQQPPPHIPVQVVGTRQPGTAQAQALGLAQLAAAVPTSRGMPGTVQSGQAHLASSPPSSQAPGALQECPPTLAPGMTLAPVQGTAHVVKGGATTSSPVVAQVPAAFYMQSVHLPGKPQTLAVKRKADSEEERDDVSTLGSMLPAKASPVAESPKVMDEKSSLGEKAESVANVNANTPSSELVALTPAPSVPPPTLAMVSRQMGDSKPPQAIVKPQILTHIIEGFVIQEGAEPFPVGCSQLLKESEKPLQTGLPTGLTENQSGGPLGVDSPSAELDKKANLLKCEYCGKYAPAEQFRGSKRFCSMTCAKRYNVSCSHQFRLKRKKMKEFQEANYARVRRRGPRRSSSDIARAKIQGKCHRGQEDSSRGSDNSSYDEALSPTSPGPLSVRAGHGERDLGNPNTAPPTPELHGINPVFLSSNPSRWSVEEVYEFIASLQGCQEIAEEFRSQEIDGQALLLLKEEHLMSAMNIKLGPALKICAKINVLKET
uniprot
proteins
disease_involvement
DISEASE: Microcephaly 11, primary, autosomal recessive (MCPH11) [MIM:615414]: A form of microcephaly, 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. {ECO:0000269|PubMed:23418308}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular levels of GMNN expression. {ECO:0000269|PubMed:23418308}.
uniprot
proteins
mass_dalton
105534
uniprot
proteins
pubmed
12167701
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19636380
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21282530
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23418308
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
9121482
uniprot
proteins
pubmed
9199346
uniprot
proteins
sequence_length
1004
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21282530, ECO:0000269|PubMed:9121482}.
uniprot
proteins