POGZ
entrez
23126
canonical
uniprot
Q7Z3K3
canonical
ensembl
ENSG00000143442
resolver
ensp
ENSP00000271715
resolver
ensp
ENSP00000357856
resolver
ensp
ENSP00000376484
resolver
ensp
ENSP00000386836
resolver
ensp
ENSP00000390156
resolver
ensp
ENSP00000431259
resolver
ensp
ENSP00000515214
resolver
enst
ENST00000703168
resolver
genesymbol
POGZ
resolver
genesymbol_syn
KIAA0461
resolver
genesymbol_syn
SUHW5
resolver
genesymbol_syn
ZNF280E
resolver
genesymbol_syn
ZNF635
resolver
hgnc
HGNC:18801
resolver
uniprot
A0A8V8TQ67
resolver
uniprot
B4DTP8
resolver
uniprot
B4DYL9
resolver
uniprot
B7ZBY5
resolver
uniprot
E9PM80
resolver
uniprot
O75049
resolver
uniprot
Q3LIC4
resolver
uniprot
Q5SZS1
resolver
uniprot
Q5SZS2
resolver
uniprot
Q5SZS3
resolver
uniprot
Q5SZS4
resolver
uniprot
Q8TDZ7
resolver
uniprot
Q9Y4X7
resolver
uniprot_entry
A0A8V8TQ67_HUMAN
resolver
uniprot_entry
POGZ_HUMAN
resolver
uniprot_sec
B4DTP8
resolver
uniprot_sec
B4DYL9
resolver
uniprot_sec
B7ZBY5
resolver
uniprot_sec
E9PM80
resolver
uniprot_sec
O75049
resolver
uniprot_sec
Q3LIC4
resolver
uniprot_sec
Q5SZS1
resolver
uniprot_sec
Q5SZS2
resolver
uniprot_sec
Q5SZS3
resolver
uniprot_sec
Q5SZS4
resolver
uniprot_sec
Q8TDZ7
resolver
uniprot_sec
Q9Y4X7
resolver
amino_acid_sequence
MADTDLFMECEEEELEPWQKISDVIEDSVVEDYNSVDKTTTVSVSQQPVSAPVPIAAHASVAGHLSTSTTVSSSGAQNSDSTKKTLVTLIANNNAGNPLVQQGGQPLILTQNPAPGLGTMVTQPVLRPVQVMQNANHVTSSPVASQPIFITTQGFPVRNVRPVQNAMNQVGIVLNVQQGQTVRPITLVPAPGTQFVKPTVGVPQVFSQMTPVRPGSTMPVRPTTNTFTTVIPATLTIRSTVPQSQSQQTKSTPSTSTTPTATQPTSLGQLAVQSPGQSNQTTNPKLAPSFPSPPAVSIASFVTVKRPGVTGENSNEVAKLVNTLNTIPSLGQSPGPVVVSNNSSAHGSQRTSGPESSMKVTSSIPVFDLQDGGRKICPRCNAQFRVTEALRGHMCYCCPEMVEYQKKGKSLDSEPSVPSAAKPPSPEKTAPVASTPSSTPIPALSPPTKVPEPNENVGDAVQTKLIMLVDDFYYGRDGGKVAQLTNFPKVATSFRCPHCTKRLKNNIRFMNHMKHHVELDQQNGEVDGHTICQHCYRQFSTPFQLQCHLENVHSPYESTTKCKICEWAFESEPLFLQHMKDTHKPGEMPYVCQVCQYRSSLYSEVDVHFRMIHEDTRHLLCPYCLKVFKNGNAFQQHYMRHQKRNVYHCNKCRLQFLFAKDKIEHKLQHHKTFRKPKQLEGLKPGTKVTIRASRGQPRTVPVSSNDTPPSALQEAAPLTSSMDPLPVFLYPPVQRSIQKRAVRKMSVMGRQTCLECSFEIPDFPNHFPTYVHCSLCRYSTCCSRAYANHMINNHVPRKSPKYLALFKNSVSGIKLACTSCTFVTSVGDAMAKHLVFNPSHRSSSILPRGLTWIAHSRHGQTRDRVHDRNVKNMYPPPSFPTNKAATVKSAGATPAEPEELLTPLAPALPSPASTATPPPTPTHPQALALPPLATEGAECLNVDDQDEGSPVTQEPELASGGGGSGGVGKKEQLSVKKLRVVLFALCCNTEQAAEHFRNPQRRIRRWLRRFQASQGENLEGKYLSFEAEEKLAEWVLTQREQQLPVNEETLFQKATKIGRSLEGGFKISYEWAVRFMLRHHLTPHARRAVAHTLPKDVAENAGLFIDFVQRQIHNQDLPLSMIVAIDEISLFLDTEVLSSDDRKENALQTVGTGEPWCDVVLAILADGTVLPTLVFYRGQMDQPANMPDSILLEAKESGYSDDEIMELWSTRVWQKHTACQRSKGMLVMDCHRTHLSEEVLAMLSASSTLPAVVPAGCSSKIQPLDVCIKRTVKNFLHKKWKEQAREMADTACDSDVLLQLVLVWLGEVLGVIGDCPELVQRSFLVASVLPGPDGNINSPTRNADMQEELIASLEEQLKLSGEHSESSTPRPRSSPEETIEPESLHQLFEGESETESFYGFEEADLDLMEI
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in POGZ may be associated with neuropsychiatric disorders such as autism spectrum disorders (ASD), bipolar affective disorders and early dementia onset. ASD are characterized by impairments in reciprocal social interaction and communication as well as restricted and stereotyped patterns of interest and activities. ASD include forms with moderate to severe cognitive impairment and milder forms with higher cognitive ability (Asperger syndrome). {ECO:0000269|PubMed:25694107}.; DISEASE: White-Sutton syndrome (WHSUS) [MIM:616364]: An autosomal dominant syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss. {ECO:0000269|PubMed:25533962, ECO:0000269|PubMed:26739615}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in mitotic cell cycle progression and is involved in kinetochore assembly and mitotic sister chromatid cohesion. Probably through its association with CBX5 plays a role in mitotic chromosome segregation by regulating aurora kinase B/AURKB activation and AURKB and CBX5 dissociation from chromosome arms (PubMed:20562864). Promotes the repair of DNA double-strand breaks through the homologous recombination pathway (PubMed:26721387). {ECO:0000269|PubMed:20562864, ECO:0000269|PubMed:26721387}.
uniprot
proteins
mass_dalton
155344
uniprot
proteins
mutagenesis
MUTAGEN 817; /note="C->A: Diminishes interaction with CBX5 and abolishes interaction with CBX1 and CBX5; when associated with A-820; A-833 and A-840."; /evidence="ECO:0000269|PubMed:20562864"; MUTAGEN 820; /note="C->A: Abolishes interaction with CBX1, CBX3 and CBX5; when associated with when associated with A-817; A-833 and A-840."; /evidence="ECO:0000269|PubMed:20562864"; MUTAGEN 833; /note="H->A: Abolishes interaction with CBX1, CBX3 and CBX5; when associated with A-817; A-820 and A-840."; /evidence="ECO:0000269|PubMed:20562864"; MUTAGEN 840; /note="H->A: Abolishes interaction with CBX1, CBX3 and CBX5; when associated with A-817; A-820 and A-833."; /evidence="ECO:0000269|PubMed:20562864"; MUTAGEN 1392; /note="S->A: Loss of phosphorylation. Loss of interaction with PSIP1; when associated with A-1396."; /evidence="ECO:0000269|PubMed:29997176"; MUTAGEN 1392; /note="S->D: Phosphomimetic mutant. Significant increase in interaction with PSIP1; when associated with D-1396."; /evidence="ECO:0000269|PubMed:29997176"; MUTAGEN 1396; /note="S->A: Loss of phosphorylation. Loss of interaction with PSIP1; when associated with A-1392."; /evidence="ECO:0000269|PubMed:29997176"; MUTAGEN 1396; /note="S->D: Phosphomimetic mutant. Significant increase in interaction with PSIP1; when associated with D-1392."; /evidence="ECO:0000269|PubMed:29997176
uniprot
proteins
post_translational_modification
PTM: Phosphorylation increases its interaction with PSIP1. {ECO:0000269|PubMed:29997176}.
uniprot
proteins
pubmed
10976766
uniprot
proteins
pubmed
12880961
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19244240
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20562864
uniprot
proteins
pubmed
20850016
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25082813
uniprot
proteins
pubmed
25533962
uniprot
proteins
pubmed
25694107
uniprot
proteins
pubmed
26721387
uniprot
proteins
pubmed
26739615
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29997176
uniprot
proteins
pubmed
9455484
uniprot
proteins
sequence_length
1410
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26721387}. Chromosome. Cytoplasm. Note=According to some authors, it is not localized to mitotic chromatin (PubMed:19244240). Recruited to trimethylated 'Lys-9' of histone H3 (H3K9me3). {ECO:0000269|PubMed:19244240}.
uniprot
proteins