ATXN7L3
entrez
56970
canonical
uniprot
Q14CW9
canonical
ensembl
ENSG00000087152
resolver
ensp
ENSP00000397259
resolver
ensp
ENSP00000465614
resolver
ensp
ENSP00000559894
resolver
ensp
ENSP00000559895
resolver
ensp
ENSP00000559898
resolver
ensp
ENSP00000583398
resolver
ensp
ENSP00000583402
resolver
ensp
ENSP00000583403
resolver
genesymbol
ATXN7L3
resolver
hgnc
HGNC:25416
resolver
uniprot
Q8IY68
resolver
uniprot
Q96N40
resolver
uniprot
Q9NPU5
resolver
uniprot_entry
AT7L3_HUMAN
resolver
uniprot_sec
Q8IY68
resolver
uniprot_sec
Q96N40
resolver
uniprot_sec
Q9NPU5
resolver
amino_acid_sequence
MKMEEMSLSGLDNSKLEAIAQEIYADLVEDSCLGFCFEVHRAVKCGYFFLDDTDPDSMKDFEIVDQPGLDIFGQVFNQWKSKECVCPNCSRSIAASRFAPHLEKCLGMGRNSSRIANRRIANSNNMNKSESDQEDNDDINDNDWSYGSEKKAKKRKSDKNPNSPRRSKSLKHKNGELSNSDPFKYNNSTGISYETLGPEELRSLLTTQCGVISEHTKKMCTRSLRCPQHTDEQRRTVRIYFLGPSAVLPEVESSLDNDSFDMTDSQALISRLQWDGSSDLSPSDSGSSKTSENQGWGLGTNSSESRKTKKKKSHLSLVGTASGLGSNKKKKPKPPAPPTPSIYDDIN
uniprot
proteins
disease_involvement
DISEASE: Harel-Tora neurodevelopmental syndrome (HATONS) [MIM:621377]: An autosomal dominant disorder characterized by global motor and language developmental delay, hypotonia, variably impaired intellectual development, and dysmorphic facial features, including hypertelorism, epicanthal folds, blepharoptosis, a small nose and mouth, and low-set, posteriorly rotated ears. {ECO:0000269|PubMed:38753057}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B (PubMed:18206972, PubMed:21746879). The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and ENY2 into the SAGA complex (PubMed:18206972). Regulates H2B monoubiquitination (H2Bub1) levels. Affects subcellular distribution of ENY2, USP22 and ATXN7L3B (PubMed:27601583). {ECO:0000255|HAMAP-Rule:MF_03047, ECO:0000269|PubMed:18206972, ECO:0000269|PubMed:21746879, ECO:0000269|PubMed:27601583}.
uniprot
proteins
mass_dalton
38651
uniprot
proteins
protein_family
SGF11 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18206972
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20634802
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21746879
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27601583
uniprot
proteins
pubmed
38753057
uniprot
proteins
sequence_length
347
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03047, ECO:0000269|PubMed:27601583}.
uniprot
proteins