• Gene id: 154810

Gene Summary

• Gene Symbol: AMOTL1   Gene   UCSC   Ensembl
• Aliases: JEAP
• Gene name: angiomotin like 1
• Alternate names: angiomotin-like protein 1, junction-enriched and associated protein,
• Gene location: 11q21 (94706417: 94876747)     Exons: 19     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 612473

Protein Summary

• Protein general information: Q8IY63  
  • Name: Angiomotin like protein 1
  • Length: 956  
  • Mass: 106574
• Sequence:

  MWRAKLRRGTCEPAVKGSPSACYSPSSPVQVLEDSTYFSPDFQLYSGRHETSALTVEATSSIREKVVEDPLCNFH
  SPNFLRISEVEMRGSEDAAAGTVLQRLIQEQLRYGTPTENMNLLAIQHQATGSAGPAHPTNNFSSTENLTQEDPQ
  MVYQSARQEPQGQEHQVDNTVMEKQVRSTQPQQNNEELPTYEEAKAQSQFFRGQQQQQQQQGAVGHGYYMAGGTS
  QKSRTEGRPTVNRANSGQAHKDEALKELKQGHVRSLSERIMQLSLERNGAKQHLPGSGNGKGFKVGGGPSPAQPA
  GKVLDPRGPPPEYPFKTKQMMSPVSKTQEHGLFYGDQHPGMLHEMVKPYPAPQPVRTDVAVLRYQPPPEYGVTSR
  PCQLPFPSTMQQHSPMSSQTSSASGPLHSVSLPLPLPMALGAPQPPPAASPSQQLGPDAFAIVERAQQMVEILTE
  ENRVLHQELQGYYDNADKLHKFEKELQRISEAYESLVKSTTKRESLDKAMRNKLEGEIRRLHDFNRDLRDRLETA
  NRQLSSREYEGHEDKAAEGHYASQNKEFLKEKEKLEMELAAVRTASEDHRRHIEILDQALSNAQARVIKLEEELR
  EKQAYVEKVEKLQQALTQLQSACEKREQMERRLRTWLERELDALRTQQKHGNGQPANMPEYNAPALLELVREKEE
  RILALEADMTKWEQKYLEESTIRHFAMNAAATAAAERDTTIINHSRNGSYGESSLEAHIWQEEEEVVQANRRCQD
  MEYTIKNLHAKIIEKDAMIKVLQQRSRKDAGKTDSSSLRPARSVPSIAAATGTHSRQTSLTSSQLAEEKKEEKTW
  KGSIGLLLGKEHHEHASAPLLPPPPTSALSSIASTTAASSAHAKTGSKDSSTQTDKSAELFWPSMASLPSRGRLS
  TTPAHSPVLKHPAAKGTAEKLENSPGHGKSPDHRGRVSSLLHKPEFPDGEMMEVLI

• Structural information:
  • Interpro: IPR009114  IPR024646  
  • DIP: 50682
  • STRING: ENSP00000387739
• Other Databases: GeneCards:  AMOTL1  Malacards:  AMOTL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035329	hippo signaling	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0030334	regulation of cell migration	IBA	biological process
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0005923	bicellular tight junction	IBA	cellular component
GO:0001525	angiogenesis	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0003365	establishment of cell polarity involved in ameboidal cell migration	IBA	biological process
GO:0008180	COP9 signalosome	IDA	colocalizes with
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0035329	hippo signaling	TAS	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0003365	establishment of cell polarity involved in ameboidal cell migration	IEA	biological process
GO:0043536	positive regulation of blood vessel endothelial cell migration	IEA	biological process
GO:0035329	hippo signaling	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray