KCTD1
entrez
284252
canonical
uniprot
Q719H9
canonical
ensembl
ENSG00000134504
resolver
ensp
ENSP00000314831
resolver
ensp
ENSP00000384367
resolver
ensp
ENSP00000408405
resolver
ensp
ENSP00000463041
resolver
ensp
ENSP00000464170
resolver
ensp
ENSP00000464261
resolver
enst
ENST00000317932
resolver
enst
ENST00000408011
resolver
enst
ENST00000417602
resolver
enst
ENST00000579973
resolver
enst
ENST00000580059
resolver
genesymbol
KCTD1
resolver
genesymbol_syn
C18orf5
resolver
hgnc
HGNC:18249
resolver
uniprot
A0A2U3U043
resolver
uniprot
A8K1F5
resolver
uniprot_entry
A0A2U3U043_HUMAN
resolver
uniprot_entry
KCTD1_HUMAN
resolver
uniprot_sec
A8K1F5
resolver
amino_acid_sequence
MSRPLITRSPASPLNNQGIPTPAQLTKSNAPVHIDVGGHMYTSSLATLTKYPESRIGRLFDGTEPIVLDSLKQHYFIDRDGQMFRYILNFLRTSKLLIPDDFKDYTLLYEEAKYFQLQPMLLEMERWKQDRETGRFSRPCECLVVRVAPDLGERITLSGDKSLIEEVFPEIGDVMCNSVNAGWNHDSTHVIRFPLNGYCHLNSVQVLERLQQRGFEIVGSCGGGVDSSQFSEYVLRRELRRTPRVPSVIRIKQEPLD
uniprot
proteins
disease_involvement
DISEASE: Scalp-ear-nipple syndrome (SENS) [MIM:181270]: An autosomal dominant ectodermal dysplasia characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Additional clinical features include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families. {ECO:0000269|PubMed:23541344, ECO:0000269|PubMed:31324836, ECO:0000269|PubMed:33000225, ECO:0000269|PubMed:33883917, ECO:0000269|PubMed:38113115, ECO:0000269|PubMed:39424163, ECO:0000269|PubMed:41086914}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Dental radicular dysplasia (DNRD) [MIM:621434]: An autosomal dominant disorder characterized by taurodontism, unseparated roots, long roots, tooth agenesis, torus palatinus, and torus mandibularis. {ECO:0000269|PubMed:38791218}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Is a regulator of different signaling pathways. Up-regulates ADCY5 thereby enhancing cAMP signaling, and is involved in the negative regulation of Wnt canonical, Hh and Notch signaling (PubMed:41086914). Is a repressor of transcriptional activation mediated by AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent (PubMed:18358072, PubMed:19115315, PubMed:33000225). {ECO:0000269|PubMed:18358072, ECO:0000269|PubMed:19115315, ECO:0000269|PubMed:33000225, ECO:0000269|PubMed:41086914}.
uniprot
proteins
mass_dalton
29405
uniprot
proteins
mutagenesis
MUTAGEN 1..27; /note="Missing: Decreased interaction with TFAP2A."; /evidence="ECO:0000269|PubMed:39191250"; MUTAGEN 69; /note="D->E: Loss of interaction with TFAP2A."; /evidence="ECO:0000269|PubMed:31324836, ECO:0000269|PubMed:33000225
uniprot
proteins
post_translational_modification
PTM: Sumoylated. {ECO:0000269|PubMed:15561718}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15561718
uniprot
proteins
pubmed
18358072
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19115315
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23541344
uniprot
proteins
pubmed
26334369
uniprot
proteins
pubmed
31324836
uniprot
proteins
pubmed
33000225
uniprot
proteins
pubmed
33883917
uniprot
proteins
pubmed
38113115
uniprot
proteins
pubmed
38791218
uniprot
proteins
pubmed
39111466
uniprot
proteins
pubmed
39191250
uniprot
proteins
pubmed
39424163
uniprot
proteins
pubmed
41086914
uniprot
proteins
sequence_length
257
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18358072, ECO:0000269|PubMed:38113115}.
uniprot
proteins