SIN3A
entrez
25942
canonical
uniprot
Q96ST3
canonical
ensembl
ENSG00000169375
resolver
ensp
ENSP00000353622
resolver
ensp
ENSP00000378402
resolver
ensp
ENSP00000378403
resolver
ensp
ENSP00000454296
resolver
ensp
ENSP00000455204
resolver
ensp
ENSP00000515834
resolver
ensp
ENSP00000535559
resolver
ensp
ENSP00000535563
resolver
ensp
ENSP00000535564
resolver
ensp
ENSP00000535565
resolver
ensp
ENSP00000594446
resolver
ensp
ENSP00000594448
resolver
ensp
ENSP00000594449
resolver
ensp
ENSP00000632575
resolver
enst
ENST00000360439
resolver
enst
ENST00000394947
resolver
enst
ENST00000394949
resolver
enst
ENST00000564778
resolver
enst
ENST00000565264
resolver
enst
ENST00000704312
resolver
enst
ENST00000865500
resolver
enst
ENST00000865504
resolver
enst
ENST00000865505
resolver
enst
ENST00000865506
resolver
enst
ENST00000924387
resolver
enst
ENST00000924389
resolver
enst
ENST00000924390
resolver
enst
ENST00000962516
resolver
genesymbol
SIN3A
resolver
hgnc
HGNC:19353
resolver
uniprot
B2RNS5
resolver
uniprot
Q8N8N4
resolver
uniprot
Q8NC83
resolver
uniprot
Q8WV18
resolver
uniprot
Q96L98
resolver
uniprot
Q9UFQ1
resolver
uniprot_entry
SIN3A_HUMAN
resolver
uniprot_sec
B2RNS5
resolver
uniprot_sec
Q8N8N4
resolver
uniprot_sec
Q8NC83
resolver
uniprot_sec
Q8WV18
resolver
uniprot_sec
Q96L98
resolver
uniprot_sec
Q9UFQ1
resolver
amino_acid_sequence
MKRRLDDQESPVYAAQQRRIPGSTEAFPHQHRVLAPAPPVYEAVSETMQSATGIQYSVTPSYQVSAMPQSSGSHGPAIAAVHSSHHHPTAVQPHGGQVVQSHAHPAPPVAPVQGQQQFQRLKVEDALSYLDQVKLQFGSQPQVYNDFLDIMKEFKSQSIDTPGVISRVSQLFKGHPDLIMGFNTFLPPGYKIEVQTNDMVNVTTPGQVHQIPTHGIQPQPQPPPQHPSQPSAQSAPAPAQPAPQPPPAKVSKPSQLQAHTPASQQTPPLPPYASPRSPPVQPHTPVTISLGTAPSLQNNQPVEFNHAINYVNKIKNRFQGQPDIYKAFLEILHTYQKEQRNAKEAGGNYTPALTEQEVYAQVARLFKNQEDLLSEFGQFLPDANSSVLLSKTTAEKVDSVRNDHGGTVKKPQLNNKPQRPSQNGCQIRRHPTGTTPPVKKKPKLLNLKDSSMADASKHGGGTESLFFDKVRKALRSAEAYENFLRCLVIFNQEVISRAELVQLVSPFLGKFPELFNWFKNFLGYKESVHLETYPKERATEGIAMEIDYASCKRLGSSYRALPKSYQQPKCTGRTPLCKEVLNDTWVSFPSWSEDSTFVSSKKTQYEEHIYRCEDERFELDVVLETNLATIRVLEAIQKKLSRLSAEEQAKFRLDNTLGGTSEVIHRKALQRIYADKAADIIDGLRKNPSIAVPIVLKRLKMKEEEWREAQRGFNKVWREQNEKYYLKSLDHQGINFKQNDTKVLRSKSLLNEIESIYDERQEQATEENAGVPVGPHLSLAYEDKQILEDAAALIIHHVKRQTGIQKEDKYKIKQIMHHFIPDLLFAQRGDLSDVEEEEEEEMDVDEATGAVKKHNGVGGSPPKSKLLFSNTAAQKLRGMDEVYNLFYVNNNWYIFMRLHQILCLRLLRICSQAERQIEEENREREWEREVLGIKRDKSDSPAIQLRLKEPMDVDVEDYYPAFLDMVRSLLDGNIDSSQYEDSLREMFTIHAYIAFTMDKLIQSIVRQLQHIVSDEICVQVTDLYLAENNNGATGGQLNTQNSRSLLESTYQRKAEQLMSDENCFKLMFIQSQGQVQLTIELLDTEEENSDDPVEAERWSDYVERYMNSDTTSPELREHLAQKPVFLPRNLRRIRKCQRGREQQEKEGKEGNSKKTMENVDSLDKLECRFKLNSYKMVYVIKSEDYMYRRTALLRAHQSHERVSKRLHQRFQAWVDKWTKEHVPREMAAETSKWLMGEGLEGLVPCTTTCDTETLHFVSINKYRVKYGTVFKAP
uniprot
proteins
disease_involvement
DISEASE: Witteveen-Kolk syndrome (WITKOS) [MIM:613406]: An autosomal dominant syndrome characterized by global developmental delay, mild to severe intellectual disability, and facial dysmorphism. Additional features include short stature, microcephaly, joint hypermotility, and small hands and feet with digital abnormalities. Brain imaging shows dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria. {ECO:0000269|PubMed:27399968, ECO:0000269|PubMed:30267900}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA. Acts cooperatively with OGT to repress transcription in parallel with histone deacetylation. Involved in the control of the circadian rhythms. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation. Cooperates with FOXK1 to regulate cell cycle progression probably by repressing cell cycle inhibitor genes expression (By similarity). Required for cortical neuron differentiation and callosal axon elongation (By similarity). {ECO:0000250|UniProtKB:Q60520, ECO:0000269|PubMed:12150998}.
uniprot
proteins
mass_dalton
145175
uniprot
proteins
post_translational_modification
PTM: SUMO1 sumoylated by TOPORS. Probably desumoylated by SENP2. {ECO:0000269|PubMed:17803295}.
uniprot
proteins
pubmed
11259580
uniprot
proteins
pubmed
11897684
uniprot
proteins
pubmed
12150998
uniprot
proteins
pubmed
12670868
uniprot
proteins
pubmed
12724404
uniprot
proteins
pubmed
14525983
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15451426
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16820529
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17803295
uniprot
proteins
pubmed
17963697
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19729656
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21490601
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27399968
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30267900
uniprot
proteins
sequence_length
1273
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00810, ECO:0000269|PubMed:16820529}. Nucleus, nucleolus {ECO:0000269|PubMed:16820529}. Note=Recruited to the nucleolus by SAP30L.
uniprot
proteins