CCDC50
entrez
152137
canonical
uniprot
Q8IVM0
canonical
ensembl
ENSG00000152492
resolver
ensp
ENSP00000376249
resolver
ensp
ENSP00000376250
resolver
ensp
ENSP00000648608
resolver
genesymbol
CCDC50
resolver
genesymbol_syn
C3orf6
resolver
hgnc
HGNC:18111
resolver
uniprot
Q86VH7
resolver
uniprot_entry
CCD50_HUMAN
resolver
uniprot_sec
Q86VH7
resolver
amino_acid_sequence
MAEVSIDQSKLPGVKEVCRDFAVLEDHTLAHSLQEQEIEHHLASNVQRNRLVQHDLQVAKQLQEEDLKAQAQLQKRYKDLEQQDCEIAQEIQEKLAIEAERRRIQEKKDEDIARLLQEKELQEEKKRKKHFPEFPATRAYADSYYYEDGGMKPRVMKEAVSTPSRMAHRDQEWYDAEIARKLQEEELLATQVDMRAAQVAQDEEIARLLMAEEKKAYKKAKEREKSSLDKRKQDPEWKPKTAKAANSKSKESDEPHHSKNERPARPPPPIMTDGEDADYTHFTNQQSSTRHFSKSESSHKGFHYKH
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 44 (DFNA44) [MIM:607453]: A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. {ECO:0000269|PubMed:17503326}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in EGFR signaling. {ECO:0000269|PubMed:15314609}.
uniprot
proteins
mass_dalton
35822
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on tyrosine residues. {ECO:0000269|PubMed:15314609}.
uniprot
proteins
pubmed
14527723
uniprot
proteins
pubmed
15314609
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17503326
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23418353
uniprot
proteins
sequence_length
306
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Note=Associated with microtubules of the cytoskeleton and mitotic apparatus. {ECO:0000250}.
uniprot
proteins