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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
  • Angiomotin-Like Protein 1 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. Diseases associated with AMOTL1 include Splenic Marginal Zone Lymphoma. Among its related pathways are Signaling by Hippo and Signaling by GPCR. Gene Ontology (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

Additional gene information for AMOTL1 Gene

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

Genomics for AMOTL1 Gene

GeneHancer (GH) Regulatory Elements for AMOTL1 Gene

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
GH11I094765 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.2 +62.2 62195 6.7 PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZNF766 ZNF213 E2F8 ZNF143 KLF13 AMOTL1 LOC105369438 ENSG00000270578 BUD13P1 ENSG00000256469 KDM4E MRE11 GC11M094750 GC11M094788
GH11I094705 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 556.6 +0.2 212 2.8 MEIS2 PKNOX1 ZSCAN4 ZNF398 FEZF1 ZBTB40 ZSCAN21 ZNF335 ZNF274 PRDM6 AMOTL1 MED17 SNORA1 MRE11 ANKRD49 KDM4E LOC105369438
GH11I094710 Enhancer 0.2 dbSUPER 550.8 +1.9 1877 0.5 AMOTL1 LOC105369438
GH11I094729 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.4 +26.2 26223 6.1 ATF1 TCF12 FOS ATF7 ATF4 MAFF SMARCA4 ZNF585B GLIS1 STAT3 AMOTL1 KDM4E LOC105369438
GH11I094745 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +43.7 43680 8.6 PKNOX1 ZSCAN4 RAD21 ZNF766 FOS ATF7 NFYA CEBPB NR2F2 SP1 GC11M094750 AMOTL1 ENSG00000256469 LOC105369438
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AMOTL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AMOTL1 gene promoter:

Genomic Locations for AMOTL1 Gene

Genomic Locations for AMOTL1 Gene
chr11:94,706,431-94,876,753
(GRCh38/hg38)
Size:
170,323 bases
Orientation:
Plus strand
chr11:94,439,597-94,609,918
(GRCh37/hg19)

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

Post-translational modifications for AMOTL1 Gene

  • Polyubiquitinated by NEDD4, leading to proteasomal degradation.
  • Ubiquitination at Lys195, posLast=227227, posLast=302302, 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:

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

miRNA for AMOTL1 Gene

miRTarBase miRNAs that target AMOTL1

Clone Products

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
nucleus 3
plasma membrane 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Cytosol (3)
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:0005923 bicellular tight junction IDA 16019084
GO:0008180 colocalizes_with COP9 signalosome IDA 18850735
GO:0016324 apical plasma membrane IEA --
GO:0030027 lamellipodium IEA --
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:0003365 establishment of cell polarity involved in ameboidal cell migration IEA --
GO:0016055 Wnt signaling pathway IEA --
GO:0035329 hippo signaling TAS,IEA --
GO:0043536 positive regulation of blood vessel endothelial cell migration 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for AMOTL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of AMOTL1 Gene:

AMOTL1

SOURCE GeneReport for Unigene cluster for AMOTL1 Gene:

Hs.503594

Evidence on tissue expression from TISSUES for AMOTL1 Gene

  • Nervous system(4.7)
  • Muscle(4.4)
  • Liver(4.2)
  • Skin(4.2)
  • Spleen(4.2)
  • Heart(2.2)
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 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia AMOTL1 33 34
  • 87.77 (n)
cow
(Bos Taurus)
Mammalia AMOTL1 33 34
  • 87.38 (n)
mouse
(Mus musculus)
Mammalia Amotl1 33 16 34
  • 85.06 (n)
rat
(Rattus norvegicus)
Mammalia Amotl1 33
  • 84.95 (n)
oppossum
(Monodelphis domestica)
Mammalia AMOTL1 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 37 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 75 (a)
ManyToMany
AMOTL1 33
  • 74.79 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 67 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia amotl1 33
  • 70.53 (n)
Str.10885 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15676 33
zebrafish
(Danio rerio)
Actinopterygii CABZ01086041.1 34
  • 38 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F59C12.3 34
  • 20 (a)
OneToMany
Species where no ortholog for AMOTL1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000000062 -- 94,706,546(+) T/G 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000008670 -- 94,749,901(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000010273 -- 94,872,080(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000019012 -- 94,748,280(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000044312 -- 94,793,086(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

(1) MalaCards diseases for AMOTL1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
splenic marginal zone lymphoma
  • smzl
- 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 22 58
  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 22 58
  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 44 58
  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 58
  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 58

Products for AMOTL1 Gene

Sources for AMOTL1 Gene

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