Gene Gene information from NCBI Gene database.
Entrez ID 154810
Gene name Angiomotin like 1
Gene symbol AMOTL1
Synonyms (NCBI Gene)
CFCHSJEAP
Chromosome 11
Chromosome location 11q21
Summary The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to an
miRNA miRNA information provided by mirtarbase database.
1303
miRTarBase ID miRNA Experiments Reference
MIRT049611 hsa-miR-92a-3p CLASH 23622248
MIRT046290 hsa-miR-23b-3p CLASH 23622248
MIRT042034 hsa-miR-484 CLASH 23622248
MIRT061247 hsa-miR-124-3p GFP reporter assayWestern blotqRT-PCR 25218344
MIRT061247 hsa-miR-124-3p GFP reporter assayWestern blotqRT-PCR 25218344
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IBA
GO:0003365 Process Establishment of cell polarity involved in ameboidal cell migration IBA
GO:0005515 Function Protein binding IPI 21187284, 35481651
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614657 17811 ENSG00000166025
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IY63
Protein name Angiomotin-like protein 1
Protein function Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12240 Angiomotin_C 605 811 Angiomotin C terminal Family
Sequence
MWRAKLRRGTCEPAVKGSPSACYSPSSPVQVLEDSTYFSPDFQLYSGRHETSALTVEATS
SIREKVVEDPLCNFHSPNFLRISEVEMRGSEDAAAGTVLQRLIQEQLRYGTPTENMNLLA
IQHQATGSAGPAHPTNNFSSTENLTQEDPQMVYQSARQEPQGQEHQVDNTVMEKQVRSTQ
PQQNNEELPTYEEAKAQSQFFRGQQQQQQQQGAVGHGYYMAGGTSQKSRTEGRPTVNRAN
SGQAHKDEALKELKQGHVRSLSERIMQLSLERNGAKQHLPGSGNGKGFKVGGGPSPAQPA
GKVLDPRGPPPEYPFKTKQMMSPVSKTQEHGLFYGDQHPGMLHEMVKPYPAPQPVRTDVA
VLRYQPPPEYGVTSRPCQLPFPSTMQQHSPMSSQTSSASGPLHSVSLPLPLPMALGAPQP
PPAASPSQQLGPDAFAIVERAQQMVEILTEENRVLHQELQGYYDNADKLHKFEKELQRIS
EAYESLVKSTTKRESLDKAMRNKLEGEIRRLHDFNRDLRDRLETANRQLSSREYEGHEDK
AAEGHYASQNKEFLKEKEKLEMELAAVRTASEDHRRHIEILDQALSNAQARVIKLEEELR
EKQAYVEKVEKLQQALTQLQSACEKREQMERRLRTWLERELDALRTQQKHGNGQPANMPE
YNAPALLELVREKEERILALEADMTKWEQKYLEESTIRHFAMNAAATAAAERDTTIINHS
RNGSYGESSLEAHIWQEEEEVVQANRRCQDMEYTIKNLHAKIIEKDAMIKVLQQRSRKDA
GKTDSSSLRPARSVPSIAAATGTHSRQTSLT
SSQLAEEKKEEKTWKGSIGLLLGKEHHEH
ASAPLLPPPPTSALSSIASTTAASSAHAKTGSKDSSTQTDKSAELFWPSMASLPSRGRLS
TTPAHSPVLKHPAAKGTAEKLENSPGHGKSPDHRGRVSSLLHKPEFPDGEMMEVLI
Sequence length 956
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Tight junction   Signaling by Hippo
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Craniofaciocardiohepatic syndrome Pathogenic rs2496020401 RCV005409944
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thyroid cancer, nonmedullary, 1 Benign rs181764487 RCV005906203
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 31819016
Carcinogenesis Associate 37558679
Cognition Disorders Associate 27075728
Colorectal Neoplasms Associate 35927308
Lymphoma B Cell Marginal Zone Associate 24349473, 27338637
Nasopharyngeal Carcinoma Associate 37558679
Pregnancy Ectopic Associate 34215268
Prostatic Neoplasms Associate 30531834