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Aliases for AMOTL1 Gene

Aliases for AMOTL1 Gene

  • Angiomotin Like 1 2 3 5
  • Junction-Enriched And Associated Protein 2 3
  • JEAP 3

External Ids for AMOTL1 Gene

Previous GeneCards Identifiers for AMOTL1 Gene

  • GC11P096831
  • GC11P096010
  • GC11P094189
  • GC11P094141
  • GC11P094501
  • GC11P090566
  • GC11P094441

Summaries for AMOTL1 Gene

Entrez Gene Summary for AMOTL1 Gene

  • 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 angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

GeneCards Summary for AMOTL1 Gene

AMOTL1 (Angiomotin Like 1) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Tight junction. GO annotations related to this gene include identical protein binding. An important paralog of this gene is AMOT.

UniProtKB/Swiss-Prot for AMOTL1 Gene

  • Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus.

Gene Wiki entry for AMOTL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMOTL1 Gene

Genomics for AMOTL1 Gene

Regulatory Elements for AMOTL1 Gene

Promoters for AMOTL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AMOTL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AMOTL1 Gene

Chromosome:
11
Start:
94,706,431 bp from pter
End:
94,876,753 bp from pter
Size:
170,323 bases
Orientation:
Plus strand

Genomic View for AMOTL1 Gene

Genes around AMOTL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMOTL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMOTL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMOTL1 Gene

Proteins for AMOTL1 Gene

  • Protein details for AMOTL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY63-AMOL1_HUMAN
    Recommended name:
    Angiomotin-like protein 1
    Protein Accession:
    Q8IY63
    Secondary Accessions:
    • Q63HK7
    • Q8NDN0
    • Q8TEN8
    • Q8WXD1
    • Q96CM5

    Protein attributes for AMOTL1 Gene

    Size:
    956 amino acids
    Molecular mass:
    106574 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB84910.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB84910.1; Type=Frameshift; Positions=592, 944; Evidence={ECO:0000305};

    Alternative splice isoforms for AMOTL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMOTL1 Gene

Proteomics data for AMOTL1 Gene at MOPED

Post-translational modifications for AMOTL1 Gene

  • Polyubiquitinated by NEDD4, leading to proteasomal degradation.
  • Ubiquitination at Lys 195, Lys 227, Lys 302, and Lys 625
  • Modification sites at PhosphoSitePlus

Other Protein References for AMOTL1 Gene

Antibody Products

No data available for DME Specific Peptides for AMOTL1 Gene

Domains & Families for AMOTL1 Gene

Protein Domains for AMOTL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMOTL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IY63

UniProtKB/Swiss-Prot:

AMOL1_HUMAN :
  • Belongs to the angiomotin family.
Family:
  • Belongs to the angiomotin family.
genes like me logo Genes that share domains with AMOTL1: view

No data available for Gene Families for AMOTL1 Gene

Function for AMOTL1 Gene

Molecular function for AMOTL1 Gene

UniProtKB/Swiss-Prot Function:
Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus.
genes like me logo Genes that share phenotypes with AMOTL1: view

Animal Models for AMOTL1 Gene

MGI Knock Outs for AMOTL1:

Animal Model Products

miRNA for AMOTL1 Gene

miRTarBase miRNAs that target AMOTL1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AMOTL1 Gene

Localization for AMOTL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMOTL1 Gene

Cell junction, tight junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMOTL1 Gene COMPARTMENTS Subcellular localization image for AMOTL1 gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AMOTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016324 apical plasma membrane IEA --
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with AMOTL1: view

Pathways & Interactions for AMOTL1 Gene

genes like me logo Genes that share pathways with AMOTL1: view

Pathways by source for AMOTL1 Gene

2 Reactome pathways for AMOTL1 Gene
1 KEGG pathway for AMOTL1 Gene

Gene Ontology (GO) - Biological Process for AMOTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016055 Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with AMOTL1: view

No data available for SIGNOR curated interactions for AMOTL1 Gene

Drugs & Compounds for AMOTL1 Gene

No Compound Related Data Available

Transcripts for AMOTL1 Gene

Unigene Clusters for AMOTL1 Gene

Angiomotin like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AMOTL1 Gene

No ASD Table

Relevant External Links for AMOTL1 Gene

GeneLoc Exon Structure for
AMOTL1
ECgene alternative splicing isoforms for
AMOTL1

Expression for AMOTL1 Gene

mRNA expression in normal human tissues for AMOTL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMOTL1 Gene

This gene is overexpressed in Muscle - Skeletal (x8.8).

Protein differential expression in normal tissues from HIPED for AMOTL1 Gene

This gene is overexpressed in Placenta (37.0) and Breast (29.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AMOTL1 Gene



SOURCE GeneReport for Unigene cluster for AMOTL1 Gene Hs.503594

genes like me logo Genes that share expression patterns with AMOTL1: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for AMOTL1 Gene

Orthologs for AMOTL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AMOTL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMOTL1 35
  • 99.48 (n)
  • 99.69 (a)
AMOTL1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMOTL1 36
  • 90 (a)
OneToOne
AMOTL1 35
  • 87.38 (n)
  • 91.58 (a)
dog
(Canis familiaris)
Mammalia AMOTL1 35
  • 87.77 (n)
  • 91.44 (a)
AMOTL1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amotl1 36
  • 87 (a)
OneToOne
Amotl1 16
Amotl1 35
  • 85.06 (n)
  • 87.96 (a)
oppossum
(Monodelphis domestica)
Mammalia AMOTL1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 37 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Amotl1 35
  • 84.95 (n)
  • 88.9 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 75 (a)
ManyToMany
AMOTL1 35
  • 74.79 (n)
  • 75.84 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 67 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.15676 35
tropical clawed frog
(Silurana tropicalis)
Amphibia amotl1 35
  • 70.53 (n)
  • 71.11 (a)
Str.10885 35
zebrafish
(Danio rerio)
Actinopterygii CABZ01086041.1 36
  • 38 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F59C12.3 36
  • 20 (a)
OneToMany
Species with no ortholog for AMOTL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AMOTL1 Gene

ENSEMBL:
Gene Tree for AMOTL1 (if available)
TreeFam:
Gene Tree for AMOTL1 (if available)

Paralogs for AMOTL1 Gene

Paralogs for AMOTL1 Gene

(2) SIMAP similar genes for AMOTL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with AMOTL1: view

Variants for AMOTL1 Gene

Sequence variations from dbSNP and Humsavar for AMOTL1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs11020968 - 94,869,249(+) GCTGC(C/T)ACCCC reference, missense
rs191373 -- 94,851,542(-) CTCTC(A/C)GTATC intron-variant
rs179642 -- 94,851,245(-) AGAAG(A/C)CCCAG intron-variant
rs182827 -- 94,839,548(+) CTACG(G/T)ACCAG intron-variant
rs333010 -- 94,847,083(-) AATTT(A/G)GTGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AMOTL1 Gene

Variant ID Type Subtype PubMed ID
nsv832234 CNV Gain 17160897
nsv898186 CNV Gain 21882294
nsv445 CNV Insertion 18451855
esv5757 OTHER Inversion 19470904
nsv898187 CNV Loss 21882294

Variation tolerance for AMOTL1 Gene

Residual Variation Intolerance Score: 40.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.78; 66.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMOTL1 Gene

HapMap Linkage Disequilibrium report
AMOTL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMOTL1 Gene

Disorders for AMOTL1 Gene

Relevant External Links for AMOTL1

Genetic Association Database (GAD)
AMOTL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMOTL1

No disorders were found for AMOTL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AMOTL1 Gene

Publications for AMOTL1 Gene

  1. Angiomotin belongs to a novel protein family with conserved coiled- coil and PDZ binding domains. (PMID: 12406577) Bratt A. … Holmgren L. (Gene 2002) 3 4 23 67
  2. Human angiomotin-like 1 associates with an angiomotin protein complex through its coiled-coil domain and induces the remodeling of the actin cytoskeleton. (PMID: 19565639) GagnAc V. … Fernandes M.J. (Cell Motil. Cytoskeleton 2009) 3 23
  3. JEAP, a novel component of tight junctions in exocrine cells. (PMID: 11733531) Nishimura M. … Takai Y. (J. Biol. Chem. 2002) 2 3
  4. Angiomotin functions in HIV-1 assembly and budding. (PMID: 25633977) Mercenne G. … Sundquist W.I. (Elife 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for AMOTL1 Gene

Sources for AMOTL1 Gene

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