RCBTB1
entrez
55213
canonical
uniprot
Q8NDN9
canonical
ensembl
ENSG00000136144
resolver
ensp
ENSP00000258646
resolver
ensp
ENSP00000367552
resolver
ensp
ENSP00000530991
resolver
ensp
ENSP00000530993
resolver
ensp
ENSP00000619694
resolver
ensp
ENSP00000716111
resolver
ensp
ENSP00000716120
resolver
ensp
ENSP00000716121
resolver
ensp
ENSP00000783547
resolver
ensp
ENSP00000783549
resolver
genesymbol
RCBTB1
resolver
genesymbol_syn
CLLD7
resolver
genesymbol_syn
E4.5
resolver
hgnc
HGNC:18243
resolver
uniprot
B3KR20
resolver
uniprot
Q8IY29
resolver
uniprot
Q969U9
resolver
uniprot_entry
B3KR20_HUMAN
resolver
uniprot_entry
RCBT1_HUMAN
resolver
uniprot_sec
Q8IY29
resolver
uniprot_sec
Q969U9
resolver
amino_acid_sequence
MVDVGKWPIFTLLSPQEIASIRKACVFGTSASEALYVTDNDEVFVFGLNYSNCLGTGDNQSTLVPKKLEGLCGKKIKSLSYGSGPHVLLSTEDGVVYAWGHNGYSQLGNGTTNQGIAPVQVCTNLLIKQVVEVACGSHHSMALAADGEVFAWGYNNCGQVGSGSTANQPTPRKVTNCLHIKRVVGIACGQTSSMAVLDNGEVYGWGYNGNGQLGLGNNGNQLTPVRVAALHSVCVNQIVCGYAHTLALTDEGLLYAWGANTYGQLGTGNKNNLLSPAHIMVEKERVVEIAACHSAHTSAAKTQGGHVYMWGQCRGQSVILPHLTHFSCTDDVFACFATPAVSWRLLSVEHEDFLTVAESLKKEFDSPETADLKFRIDGKYIHVHKAVLKIRCEHFRSMFQSYWNEDMKEVIEIDQFSYPVYRAFLQYLYTDTVDLPPEDAIGLLDLATSYCENRLKKLCQHIIKRGITVENAFSLFSAAVRYDAEDLEEFCFKFCINHLTEVTQTAAFWQMDGPLLKEFIAKASKCGAFKN
uniprot
proteins
disease_involvement
DISEASE: Retinal dystrophy with or without extraocular anomalies (RDEOA) [MIM:617175]: An autosomal recessive disease characterized by progressive retinal dystrophy, chorioretinal macular atrophy, reduced cone and rod responses on ERG, and decrease visual acuity. Extraocular anomalies are variably present in some patients and include pulmonary fibrosis, sensorineural hearing loss, and endocrine features such as goiter and primary ovarian insufficiency. {ECO:0000269|PubMed:27486781}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in cell cycle regulation by chromatin remodeling. {ECO:0000269|PubMed:11306461}.
uniprot
proteins
mass_dalton
58252
uniprot
proteins
pubmed
11306461
uniprot
proteins
pubmed
14565662
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
27486781
uniprot
proteins
sequence_length
531
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins