MSL3
entrez
10943
canonical
uniprot
Q8N5Y2
canonical
ensembl
ENSG00000005302
resolver
ensp
ENSP00000312244
resolver
ensp
ENSP00000338078
resolver
ensp
ENSP00000354562
resolver
ensp
ENSP00000381538
resolver
ensp
ENSP00000498017
resolver
genesymbol
MSL3
resolver
genesymbol_syn
MSL3L1
resolver
hgnc
HGNC:7370
resolver
uniprot
A6NCU2
resolver
uniprot
A6NHW8
resolver
uniprot
A8K165
resolver
uniprot
B4DUV8
resolver
uniprot
B7Z227
resolver
uniprot
Q9UG70
resolver
uniprot
Q9Y5Z8
resolver
uniprot_entry
MS3L1_HUMAN
resolver
uniprot_sec
A6NCU2
resolver
uniprot_sec
A6NHW8
resolver
uniprot_sec
A8K165
resolver
uniprot_sec
B4DUV8
resolver
uniprot_sec
B7Z227
resolver
uniprot_sec
Q9UG70
resolver
uniprot_sec
Q9Y5Z8
resolver
amino_acid_sequence
MSASEGMKFKFHSGEKVLCFEPDPTKARVLYDAKIVDVIVGKDEKGRKIPEYLIHFNGWNRSWDRWAAEDHVLRDTDENRRLQRKLARKAVARLRSTGRKKKRCRLPGVDSVLKGLPTEEKDENDENSLSSSSDCSENKDEEISEESDIEEKTEVKEEPELQTRREMEERTITIEIPEVLKKQLEDDCYYINRRKRLVKLPCQTNIITILESYVKHFAINAAFSANERPRHHHVMPHANMNVHYIPAEKNVDLCKEMVDGLRITFDYTLPLVLLYPYEQAQYKKVTSSKFFLPIKESATSTNRSQEELSPSPPLLNPSTPQSTESQPTTGEPATPKRRKAEPEALQSLRRSTRHSANCDRLSESSASPQPKRRQQDTSASMPKLFLHLEKKTPVHSRSSSPIPLTPSKEGSAVFAGFEGRRTNEINEVLSWKLVPDNYPPGDQPPPPSYIYGAQHLLRLFVKLPEILGKMSFSEKNLKALLKHFDLFLRFLAEYHDDFFPESAYVAACEAHYSTKNPRAIY
uniprot
proteins
disease_involvement
DISEASE: Basilicata-Akhtar syndrome (MRXSBA) [MIM:301032]: An X-linked syndrome characterized by intellectual disability, global developmental delay, progressive gait disturbance, poor or absent speech, facial dysmorphism, and mild distal skeletal anomalies. {ECO:0000269|PubMed:30224647, ECO:0000269|PubMed:33173220}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction (PubMed:16227571, PubMed:16543150, PubMed:20018852, PubMed:20657587, PubMed:20943666, PubMed:21217699, PubMed:30224647, PubMed:33837287). The MSL complex is required for chromosome stability and genome integrity by maintaining homeostatic levels of H4K16ac (PubMed:33837287). The MSL complex is also involved in gene dosage by promoting up-regulation of genes expressed by the X chromosome (By similarity). X up-regulation is required to compensate for autosomal biallelic expression (By similarity). The MSL complex also participates in gene dosage compensation by promoting expression of Tsix non-coding RNA (By similarity). Acts as a histone reader that specifically recognizes and binds histone H4 monomethylated at 'Lys-20' (H4K20Me1) in a DNA-dependent manner and is proposed to be involved in chromosomal targeting of the MSL complex (PubMed:20657587, PubMed:20943666). May play a role X inactivation in females (PubMed:21217699). {ECO:0000250|UniProtKB:Q9D1P2, ECO:0000250|UniProtKB:Q9WVG9, ECO:0000269|PubMed:16227571, ECO:0000269|PubMed:16543150, ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:20657587, ECO:0000269|PubMed:20943666, ECO:0000269|PubMed:21217699, ECO:0000269|PubMed:30224647, ECO:0000269|PubMed:33837287}.
uniprot
proteins
mass_dalton
59824
uniprot
proteins
mutagenesis
MUTAGEN 31; /note="Y->A: Diminishes interaction with histone H4 monomethylated at 'Lys-20'(H4K20Me1)."; /evidence="ECO:0000269|PubMed:20943666"; MUTAGEN 55; /note="H->A: Diminishes DNA-binding; when associated with A-65."; /evidence="ECO:0000269|PubMed:20657587"; MUTAGEN 56; /note="F->A: Abolishes interaction with histone H4 monomethylated at 'Lys-20'(H4K20Me1)."; MUTAGEN 59; /note="W->G: Diminishes DNA-binding."; /evidence="ECO:0000269|PubMed:20657587"; MUTAGEN 65; /note="R->A: Diminishes DNA-binding; when associated with A-55."; /evidence="ECO:0000269|PubMed:20657587
uniprot
proteins
pubmed
10395802
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16227571
uniprot
proteins
pubmed
16543150
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20018852
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20657587
uniprot
proteins
pubmed
20943666
uniprot
proteins
pubmed
21217699
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22547026
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30224647
uniprot
proteins
pubmed
33173220
uniprot
proteins
pubmed
33837287
uniprot
proteins
sequence_length
521
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:30224647}.
uniprot
proteins