AMOTL1
entrez
154810
canonical
uniprot
Q8IY63
canonical
ensembl
ENSG00000166025
resolver
ensp
ENSP00000320968
resolver
ensp
ENSP00000387739
resolver
ensp
ENSP00000776513
resolver
genesymbol
AMOTL1
resolver
hgnc
HGNC:17811
resolver
uniprot
Q63HK7
resolver
uniprot
Q8NDN0
resolver
uniprot
Q8TEN8
resolver
uniprot
Q8WXD1
resolver
uniprot
Q96CM5
resolver
uniprot_entry
AMOL1_HUMAN
resolver
uniprot_sec
Q63HK7
resolver
uniprot_sec
Q8NDN0
resolver
uniprot_sec
Q8TEN8
resolver
uniprot_sec
Q8WXD1
resolver
uniprot_sec
Q96CM5
resolver
amino_acid_sequence
MWRAKLRRGTCEPAVKGSPSACYSPSSPVQVLEDSTYFSPDFQLYSGRHETSALTVEATSSIREKVVEDPLCNFHSPNFLRISEVEMRGSEDAAAGTVLQRLIQEQLRYGTPTENMNLLAIQHQATGSAGPAHPTNNFSSTENLTQEDPQMVYQSARQEPQGQEHQVDNTVMEKQVRSTQPQQNNEELPTYEEAKAQSQFFRGQQQQQQQQGAVGHGYYMAGGTSQKSRTEGRPTVNRANSGQAHKDEALKELKQGHVRSLSERIMQLSLERNGAKQHLPGSGNGKGFKVGGGPSPAQPAGKVLDPRGPPPEYPFKTKQMMSPVSKTQEHGLFYGDQHPGMLHEMVKPYPAPQPVRTDVAVLRYQPPPEYGVTSRPCQLPFPSTMQQHSPMSSQTSSASGPLHSVSLPLPLPMALGAPQPPPAASPSQQLGPDAFAIVERAQQMVEILTEENRVLHQELQGYYDNADKLHKFEKELQRISEAYESLVKSTTKRESLDKAMRNKLEGEIRRLHDFNRDLRDRLETANRQLSSREYEGHEDKAAEGHYASQNKEFLKEKEKLEMELAAVRTASEDHRRHIEILDQALSNAQARVIKLEEELREKQAYVEKVEKLQQALTQLQSACEKREQMERRLRTWLERELDALRTQQKHGNGQPANMPEYNAPALLELVREKEERILALEADMTKWEQKYLEESTIRHFAMNAAATAAAERDTTIINHSRNGSYGESSLEAHIWQEEEEVVQANRRCQDMEYTIKNLHAKIIEKDAMIKVLQQRSRKDAGKTDSSSLRPARSVPSIAAATGTHSRQTSLTSSQLAEEKKEEKTWKGSIGLLLGKEHHEHASAPLLPPPPTSALSSIASTTAASSAHAKTGSKDSSTQTDKSAELFWPSMASLPSRGRLSTTPAHSPVLKHPAAKGTAEKLENSPGHGKSPDHRGRVSSLLHKPEFPDGEMMEVLI
uniprot
proteins
disease_involvement
DISEASE: Craniofaciocardiohepatic syndrome (CFCHS) [MIM:621192]: An autosomal dominant disorder characterized by orofacial clefting, congenital heart disease, tall stature, auricular anomalies, gastrointestinal manifestations, and developmental delay. {ECO:0000269|PubMed:30375152, ECO:0000269|PubMed:33026150, ECO:0000269|PubMed:36751037}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. {ECO:0000269|PubMed:22362771}.
uniprot
proteins
mass_dalton
106574
uniprot
proteins
post_translational_modification
PTM: Polyubiquitinated by NEDD4, leading to proteasomal degradation. {ECO:0000269|PubMed:22385262}.
uniprot
proteins
protein_family
Angiomotin family
uniprot
proteins
pubmed
12406577
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
22362771
uniprot
proteins
pubmed
22385262
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30375152
uniprot
proteins
pubmed
33026150
uniprot
proteins
pubmed
36751037
uniprot
proteins
pubmed
37428002
uniprot
proteins
sequence_length
956
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250}.
uniprot
proteins