ATXN7L3B
entrez
552889
canonical
uniprot
Q96GX2
canonical
ensembl
ENSG00000253719
resolver
ensp
ENSP00000430000
resolver
enst
ENST00000519948
resolver
genesymbol
ATXN7L3B
resolver
hgnc
HGNC:37931
resolver
uniprot_entry
A7L3B_HUMAN
resolver
amino_acid_sequence
MEEISLANLDTNKLEAIAQEIYVDLIEDSCLGFCFEVHRAVKCGYFYLEFAETGSVKDFGIQPVEDKGACRLPLCSLPGEPGNGPDQQLQRSPPEFQ
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving ATXN7L3B has been found in a mother and her two children with varying degrees of neurodevelopmental delay and cerebellar ataxia. One child also exhibits episodes of unresponsiveness suggestive of absence seizures and facial dysmorphism. Deletion at 12q21.1 deletes the entire single exon of ATXN7L3B. {ECO:0000269|PubMed:23475819}.
uniprot
proteins
function
FUNCTION: By binding to ENY2, interferes with the nuclear functions of the deubiquitinase (DUB) module of the SAGA complex which consists of ENY2, ATXN7, ATXN7L3 and the histone deubiquitinating component USP22. Affects USP22 DUB activity toward histones indirectly by changing the subcellular distribution of ENY2 and altering ENY2 availability for ATXN7L3 interaction. Regulates H2B monoubiquitination (H2Bub1) levels through cytoplasmic sequestration of ENY2 resulting in loss of nuclear ENY2-ATXN7L3 association which destabilizes ATXN7L3. Affects protein expression levels of ENY2 and ATXN7L3. {ECO:0000269|PubMed:27601583}.
uniprot
proteins
mass_dalton
10771
uniprot
proteins
protein_family
SGF11 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16680195
uniprot
proteins
pubmed
23475819
uniprot
proteins
pubmed
27601583
uniprot
proteins
sequence_length
97
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27601583}.
uniprot
proteins