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 va... See more...

Aliases for AMOTL1 Gene

Aliases for AMOTL1 Gene

  • Angiomotin Like 1 2 3 5
  • Junction-Enriched And Associated Protein 2 3
  • Angiomotin-Like Protein 1 3 4
  • JEAP 2 3
  • AMOTL1 5

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. Diseases associated with AMOTL1 include Splenic Marginal Zone Lymphoma and Spinocerebellar Ataxia 45. Among its related pathways are Signaling by GPCR and Signaling by Hippo. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is AMOT.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for AMOTL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMOTL1 Gene

Genomics for AMOTL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMOTL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J094765 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.2 +62.2 62208 6.7 ZNF221 CREB1 HNRNPL PRDM10 ZNF629 LEF1 IKZF1 ZNF692 PRDM1 ZNF143 AMOTL1 LOC105369438 ENSG00000256469 KDM4E MRE11 piR-32785-003 lnc-PIWIL4-6 CWC15
GH11J094705 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 606.5 +0.2 225 2.8 PRDM10 ZSCAN4 PKNOX1 SCRT2 ZBTB17 ZNF274 CTCF ZNF335 FEZF1 ATF3 AMOTL1 MED17 SNORA1 MRE11 ANKRD49 KDM4E NONHSAG009400.2 LOC105369438 CWC15
GH11J094710 Enhancer 0.2 dbSUPER 600.7 +1.9 1890 0.5 AMOTL1 LOC105369438 NONHSAG009400.2 CWC15
GH11J094729 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 15.4 +26.2 26236 6.1 LEF1 IKZF1 KDM1A JUND ZIC2 ZNF24 ZNF740 SP1 DPF2 HDAC1 NONHSAG009400.2 AMOTL1 KDM4E LOC105369438 CWC15
GH11J094745 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 12.8 +43.7 43693 8.6 JUND FOXA1 ZSCAN4 PKNOX1 EP300 CEBPB SP1 ZNF766 NFE2 HDAC2 AMOTL1 ENSG00000256469 LOC107984376 piR-32785-003 CWC15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMOTL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMOTL1

Top Transcription factor binding sites by QIAGEN in the AMOTL1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • LUN-1
  • NF-1
  • Pbx1a
  • STAT5A

Genomic Locations for AMOTL1 Gene

Genomic Locations for AMOTL1 Gene
chr11:94,706,418-94,876,748
(GRCh38/hg38)
Size:
170,331 bases
Orientation:
Plus strand
chr11:94,439,597-94,609,918
(GRCh37/hg19)
Size:
170,322 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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB84910.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for AMOTL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMOTL1 Gene

Post-translational modifications for AMOTL1 Gene

  • Polyubiquitinated by NEDD4, leading to proteasomal degradation.
  • Ubiquitination at Lys195, Lys227, Lys302, and Lys625
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AMOTL1 Gene

Domains & Families for AMOTL1 Gene

Gene Families for AMOTL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AMOTL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMOTL1 Gene

GenScript: Design optimal peptide antigens:
  • Angiomotin-like protein 1 (AMOL1_HUMAN)

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

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.

Phenotypes From GWAS Catalog for AMOTL1 Gene

Gene Ontology (GO) - Molecular Function for AMOTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21187284
GO:0042802 identical protein binding IDA 16019084
genes like me logo Genes that share ontologies with AMOTL1: view
genes like me logo Genes that share phenotypes with AMOTL1: view

Animal Model Products

CRISPR Products

miRNA for AMOTL1 Gene

miRTarBase miRNAs that target AMOTL1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMOTL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMOTL1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 3
cytoskeleton 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMOTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA 21873635
GO:0005923 bicellular tight junction IDA 16019084
GO:0008180 colocalizes_with COP9 signalosome IDA 18850735
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with AMOTL1: view

Pathways & Interactions for AMOTL1 Gene

PathCards logo

SuperPathways 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:0001525 angiogenesis IBA 21873635
GO:0003365 establishment of cell polarity involved in ameboidal cell migration IBA 21873635
GO:0016055 Wnt signaling pathway IEA --
GO:0030036 actin cytoskeleton organization IBA 21873635
GO:0030334 regulation of cell migration IBA 21873635
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

mRNA/cDNA for AMOTL1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMOTL1

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

No ASD Table

Relevant External Links for AMOTL1 Gene

GeneLoc Exon Structure for
AMOTL1

Expression for AMOTL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for AMOTL1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMOTL1

SOURCE GeneReport for Unigene cluster for AMOTL1 Gene:

Hs.503594

Evidence on tissue expression from TISSUES for AMOTL1 Gene

  • Nervous system(4.8)
  • Muscle(4.6)
  • Skin(4.4)
  • Liver(4.4)
  • Spleen(4.2)
  • Heart(2.5)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with AMOTL1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AMOTL1 30 31
  • 87.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AMOTL1 30 31
  • 87.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Amotl1 30 17 31
  • 85.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Amotl1 30
  • 84.95 (n)
Oppossum
(Monodelphis domestica)
Mammalia AMOTL1 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 37 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 75 (a)
ManyToMany
AMOTL1 30
  • 74.79 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 67 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia amotl1 30
  • 70.53 (n)
Str.10885 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15676 30
Zebrafish
(Danio rerio)
Actinopterygii CABZ01086041.1 31
  • 38 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea F59C12.3 31
  • 20 (a)
OneToMany
Species where no ortholog for AMOTL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for AMOTL1: view image

Paralogs for AMOTL1 Gene

Paralogs for AMOTL1 Gene

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

  • AMOL1_HUMAN
  • E7ESY6_HUMAN
  • F8WDH4_HUMAN
genes like me logo Genes that share paralogs with AMOTL1: view

Variants for AMOTL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMOTL1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
720475 Benign: not provided 94,869,292(+) G/A SYNONYMOUS_VARIANT
726884 Benign: not provided 94,799,904(+) T/C SYNONYMOUS_VARIANT
726885 Benign: not provided 94,800,030(+) C/T SYNONYMOUS_VARIANT
726886 Benign: not provided 94,850,220(+) G/A SYNONYMOUS_VARIANT
778543 Benign: not provided 94,859,536(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AMOTL1 Gene

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

Variant ID Type Subtype PubMed ID
dgv222e214 CNV gain 21293372
esv5757 OTHER inversion 19470904
nsv445 CNV insertion 18451855
nsv477997 CNV novel sequence insertion 20440878
nsv832234 CNV gain 17160897

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)

Additional Variant Information for AMOTL1 Gene

Human Gene Mutation Database (HGMD)
AMOTL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMOTL1

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

Disorders for AMOTL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AMOTL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
splenic marginal zone lymphoma
  • smzl
spinocerebellar ataxia 45
  • sca45
meningioma, familial
  • meningioma, familial, susceptibility to
wilson-turner x-linked mental retardation syndrome
  • wts
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AMOTL1

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

No data available for 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 … Meir EG (Gene 2002) 3 4 23
  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) Gagné V … Fernandes MJ (Cell motility and the cytoskeleton 2009) 3 23
  3. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PMID: 18951430) Anney RJ … Gill M (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. JEAP, a novel component of tight junctions in exocrine cells. (PMID: 11733531) Nishimura M … Takai Y (The Journal of biological chemistry 2002) 2 3

Products for AMOTL1 Gene

  • Signalway ELISA kits for AMOTL1
  • Signalway Proteins for AMOTL1

Sources for AMOTL1 Gene