KANSL1
entrez
284058
canonical
uniprot
Q7Z3B3
canonical
ensembl
ENSG00000120071
resolver
ensembl
ENSG00000278458
resolver
ensp
ENSP00000262419
resolver
ensp
ENSP00000387393
resolver
ensp
ENSP00000461299
resolver
ensp
ENSP00000461484
resolver
ensp
ENSP00000461812
resolver
ensp
ENSP00000480995
resolver
ensp
ENSP00000482074
resolver
ensp
ENSP00000484212
resolver
ensp
ENSP00000487763
resolver
ensp
ENSP00000491765
resolver
ensp
ENSP00000492576
resolver
ensp
ENSP00000497628
resolver
ensp
ENSP00000572860
resolver
ensp
ENSP00000572861
resolver
ensp
ENSP00000572862
resolver
ensp
ENSP00000572863
resolver
ensp
ENSP00000572864
resolver
ensp
ENSP00000588977
resolver
enst
ENST00000574590
resolver
enst
ENST00000575318
resolver
enst
ENST00000610328
resolver
enst
ENST00000613150
resolver
enst
ENST00000622036
resolver
enst
ENST00000633819
resolver
enst
ENST00000638275
resolver
enst
ENST00000648792
resolver
enst
ENST00000902802
resolver
enst
ENST00000902804
resolver
enst
ENST00000918918
resolver
genesymbol
KANSL1
resolver
genesymbol_syn
CENP-36
resolver
genesymbol_syn
KIAA1267
resolver
genesymbol_syn
MSL1V1
resolver
genesymbol_syn
NSL1
resolver
hgnc
HGNC:24565
resolver
uniprot
A0A0G2JNB1
resolver
uniprot
A0A0G2JNT7
resolver
uniprot
A0A1W2PRB5
resolver
uniprot
A0A3B3IT55
resolver
uniprot
A0A9S7M8F4
resolver
uniprot
A8K5E4
resolver
uniprot
B3KT49
resolver
uniprot
I3L4J3
resolver
uniprot
Q6AW85
resolver
uniprot
Q8IYH1
resolver
uniprot
Q9BRH0
resolver
uniprot
Q9NTE7
resolver
uniprot
Q9UFT0
resolver
uniprot
Q9ULF3
resolver
uniprot_entry
A0A0G2JNB1_HUMAN
resolver
uniprot_entry
A0A0G2JNT7_HUMAN
resolver
uniprot_entry
A0A1W2PRB5_HUMAN
resolver
uniprot_entry
A0A3B3IT55_HUMAN
resolver
uniprot_entry
A0A9S7M8F4_HUMAN
resolver
uniprot_entry
KANL1_HUMAN
resolver
uniprot_sec
A8K5E4
resolver
uniprot_sec
B3KT49
resolver
uniprot_sec
I3L4J3
resolver
uniprot_sec
Q6AW85
resolver
uniprot_sec
Q8IYH1
resolver
uniprot_sec
Q9BRH0
resolver
uniprot_sec
Q9NTE7
resolver
uniprot_sec
Q9UFT0
resolver
uniprot_sec
Q9ULF3
resolver
amino_acid_sequence
MAAMAPALTDAAAEAHHIRFKLAPPSSTLSPGSAENNGNANILIAANGTKRKAIAAEDPSLDFRNNPTKEDLGKLQPLVASYLCSDVTSVPSKESLKLQGVFSKQTVLKSHPLLSQSYELRAELLGRQPVLEFSLENLRTMNTSGQTALPQAPVNGLAKKLTKSSTHSDHDNSTSLNGGKRALTSSALHGGEMGGSESGDLKGGMTNCTLPHRSLDVEHTTLYSNNSTANKSSVNSMEQPALQGSSRLSPGTDSSSNLGGVKLEGKKSPLSSILFSALDSDTRITALLRRQADIESRARRLQKRLQVVQAKQVERHIQHQLGGFLEKTLSKLPNLESLRPRSQLMLTRKAEAALRKAASETTTSEGLSNFLKSNSISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTRADPEQRHVPLRRRSEWKWAADRAAIVSRWNWLQAHVSDLEYRIRQQTDIYKQIRANKGLIVLGEVPPPEHTTDLFLPLSSEVKTDHGTDKLIESVSQPLENHGAPIIGHISESLSTKSCGALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCVAARTRPVLSCKKRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQLDSCVHPVLAFPDDVPTSLHFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSARKDRHKLVSSFLTTAKLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAERLLNPPPPVHDPNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDSPAPASSSSQVTASTSQQPVRRRRGESSFDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKGSPDEENEEIEDLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYRSSDGRTTPQLGSANPSTPQPASPDVSSSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRCSTPELGLDEQSVQPWERRTFPLAHSPQAECEDQLDAQERAARCTRRTSGSKTGRETEAAPTSPPIVPLKSRHLVAAATAQRPTHR
uniprot
proteins
disease_involvement
DISEASE: Koolen-De Vries syndrome (KDVS) [MIM:610443]: An autosomal dominant, multisystem disorder characterized by hypotonia, developmental delay, moderate to severe intellectual disability, and distinctive dysmorphic features including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. {ECO:0000269|PubMed:22544363, ECO:0000269|PubMed:22544367, ECO:0000269|PubMed:26424144}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-catalytic component of the NSL histone acetyltransferase complex, a multiprotein complex that mediates histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation (PubMed:20018852, PubMed:22547026, PubMed:33657400). The NSL complex also acts as a regulator of gene expression in mitochondria (PubMed:27768893). In addition to its role in transcription, KANSL1 also plays an essential role in spindle assembly during mitosis (PubMed:26243146). Associates with microtubule ends and contributes to microtubule stability (PubMed:26243146). {ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:22547026, ECO:0000269|PubMed:26243146, ECO:0000269|PubMed:27768893, ECO:0000269|PubMed:33657400}.
uniprot
proteins
mass_dalton
120966
uniprot
proteins
mutagenesis
MUTAGEN 852..855; /note="RRRR->AAAA: Abolishes KAT8 histone acetyltransferase activity."; /evidence="ECO:0000269|PubMed:22547026"; MUTAGEN 856..859; /note="GESS->AAAA: Strongly reduces KAT8 histone acetyltransferase activity."; /evidence="ECO:0000269|PubMed:22547026"; MUTAGEN 860..863; /note="FDIN->AAAA: Strongly reduces KAT8 histone acetyltransferase activity."; /evidence="ECO:0000269|PubMed:22547026"; MUTAGEN 864..867; /note="NIVI->AAAA: Abolishes KAT8 histone acetyltransferase activity."; /evidence="ECO:0000269|PubMed:22547026"; MUTAGEN 868..871; /note="PMSV->AAAA: Reduces KAT8 histone acetyltransferase activity."; /evidence="ECO:0000269|PubMed:22547026"; MUTAGEN 910; /note="E->R: Abolishes interaction with KAT8."; /evidence="ECO:0000269|PubMed:21217699"; MUTAGEN 917; /note="F->R: No effect on interaction with KAT8."; /evidence="ECO:0000269|PubMed:21217699"; MUTAGEN 921; /note="H->R: Abolishes interaction with KAT8."; /evidence="ECO:0000269|PubMed:21217699
uniprot
proteins
pubmed
10574462
uniprot
proteins
pubmed
11641718
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15960975
uniprot
proteins
pubmed
16227571
uniprot
proteins
pubmed
16543150
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20018852
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20620954
uniprot
proteins
pubmed
20813266
uniprot
proteins
pubmed
21217699
uniprot
proteins
pubmed
22544363
uniprot
proteins
pubmed
22544367
uniprot
proteins
pubmed
22547026
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26243146
uniprot
proteins
pubmed
26424144
uniprot
proteins
pubmed
27768893
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
33657400
uniprot
proteins
sequence_length
1105
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:26243146}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}. Mitochondrion {ECO:0000269|PubMed:27768893}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:26243146}. Note=Concentrated in the nucleus during interphase, localizes to the spindle poles and pericentriolar region during prometaphase and metaphase, and remains associated with the spindle poles throughout anaphase. {ECO:0000269|PubMed:26243146}.
uniprot
proteins