KCTD15
entrez
79047
canonical
uniprot
Q96SI1
canonical
ensembl
ENSG00000153885
resolver
ensp
ENSP00000284006
resolver
ensp
ENSP00000464812
resolver
ensp
ENSP00000467612
resolver
ensp
ENSP00000508199
resolver
ensp
ENSP00000562983
resolver
ensp
ENSP00000562984
resolver
ensp
ENSP00000562985
resolver
ensp
ENSP00000562986
resolver
ensp
ENSP00000562988
resolver
ensp
ENSP00000562989
resolver
ensp
ENSP00000562990
resolver
ensp
ENSP00000582196
resolver
ensp
ENSP00000582197
resolver
ensp
ENSP00000747488
resolver
genesymbol
KCTD15
resolver
hgnc
HGNC:23297
resolver
uniprot
A8K600
resolver
uniprot
Q9BVI6
resolver
uniprot_entry
KCD15_HUMAN
resolver
uniprot_sec
A8K600
resolver
uniprot_sec
Q9BVI6
resolver
amino_acid_sequence
MPHRKERPSGSSLHTHGSTGTAEGGNMSRLSLTRSPVSPLAAQGIPLPAQLTKSNAPVHIDVGGHMYTSSLATLTKYPDSRISRLFNGTEPIVLDSLKQHYFIDRDGEIFRYVLSFLRTSKLLLPDDFKDFSLLYEEARYYQLQPMVRELERWQQEQEQRRRSRACDCLVVRVTPDLGERIALSGEKALIEEVFPETGDVMCNSVNAGWNQDPTHVIRFPLNGYCRLNSVQVLERLFQRGFSVAASCGGGVDSSQFSEYVLCREERRPQPTPTAVRIKQEPLD
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in KCTD15, affecting the BTB domain of the protein, may be the cause of a distinctive frontonasal dysplasia syndrome characterized by a midline mass containing fatty or hamartomatous tissue that overlies the frontonasal region, sparse scalp hair, and aplasia cutis of the scalp. Additionally, congenital heart disease has been observed in one family. {ECO:0000269|PubMed:38296633}.
uniprot
proteins
function
FUNCTION: During embryonic development, it is involved in neural crest formation (By similarity). Inhibits AP2 transcriptional activity by interaction with its activation domain (PubMed:23382213). {ECO:0000250|UniProtKB:Q6DC02, ECO:0000269|PubMed:23382213}.
uniprot
proteins
mass_dalton
31942
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23382213
uniprot
proteins
pubmed
38113115
uniprot
proteins
pubmed
38296633
uniprot
proteins
sequence_length
283
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:38113115}.
uniprot
proteins