This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endoth... See more...

Aliases for AMOT Gene

Aliases for AMOT Gene

  • Angiomotin 2 3 4 5
  • KIAA1071 2 4
  • AMOT 5

External Ids for AMOT Gene

Previous GeneCards Identifiers for AMOT Gene

  • GC0XM107187
  • GC0XM109089
  • GC0XM110042
  • GC0XM110781
  • GC0XM111823
  • GC0XM112017

Summaries for AMOT Gene

Entrez Gene Summary for AMOT Gene

  • This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for AMOT Gene

AMOT (Angiomotin) is a Protein Coding gene. Diseases associated with AMOT include Papilloma and Myeloproliferative Syndrome, Transient. Among its related pathways are Signaling by GPCR and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include angiostatin binding. An important paralog of this gene is AMOTL1.

UniProtKB/Swiss-Prot Summary for AMOT Gene

  • Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also play a role in the assembly of endothelial cell-cell junctions.

Gene Wiki entry for AMOT Gene

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

Genomics for AMOT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMOT 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
GH0XJ112839 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 269.1 +0.3 282 3.4 SP1 POLR2A YY1 FEZF1 ZNF341 KLF7 ZNF217 CTBP1 KLF9 ZNF610 AMOT LOC101928437 LOC107985651 lnc-LHFPL1-3 piR-39314 LHFPL1
GH0XJ112823 Promoter 0.3 EPDnew 250.4 +17.7 17716 0.1 AMOT piR-39314 lnc-LHFPL1-3 MIR4329 LHFPL1
GH0XJ112850 Enhancer 0.9 Ensembl ENCODE 16.9 -10.8 -10791 2.9 BCLAF1 SP1 BCL11A KLF7 EZH2 EBF1 CBFB SMARCA5 PRDM6 BATF AMOT piR-35564-154 LOC107985651 LOC101928437
GH0XJ112678 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 6.7 +161.2 161191 2.8 POLR2A EBF1 BHLHE40 ELF1 NRF1 TAF1 STAT5A IKZF1 NFATC1 TCF7 LHFPL1 lnc-LHFPL1-2 AMOT ENSG00000200436 RTL4
GH0XJ112866 Enhancer 0.3 Ensembl 29.8 -25.4 -25356 0.6 PKNOX1 AMOT RF00017-8002 piR-31282 LOC101928437
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the AMOT gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FOXD3
  • FOXO4
  • Sox9

Genomic Locations for AMOT Gene

Latest Assembly
chrX:112,774,503-112,840,945
(GRCh38/hg38)
Size:
66,443 bases
Orientation:
Minus strand

Previous Assembly
chrX:112,018,105-112,084,059
(GRCh37/hg19 by Entrez Gene)
Size:
65,955 bases
Orientation:
Minus strand

chrX:112,017,731-112,084,043
(GRCh37/hg19 by Ensembl)
Size:
66,313 bases
Orientation:
Minus strand

Genomic View for AMOT Gene

Genes around AMOT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AMOT Gene

Proteins for AMOT Gene

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

    Protein Symbol:
    Q4VCS5-AMOT_HUMAN
    Recommended name:
    Angiomotin
    Protein Accession:
    Q4VCS5
    Secondary Accessions:
    • Q504X5
    • Q9HD27
    • Q9UPT1

    Protein attributes for AMOT Gene

    Size:
    1084 amino acids
    Molecular mass:
    118085 Da
    Quaternary structure:
    • Component of a complex whose core is composed of ARHGAP17, AMOT, MPP5/PALS1, PATJ and PARD3/PAR3. Interacts with MAGI1. Isoform 1 interacts with angiostatin.
    SequenceCaution:
    • Sequence=AAH94712.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
    Miscellaneous:
    • 'Motus' means 'motility' in Latin.

    Three dimensional structures from OCA and Proteopedia for AMOT Gene

    Alternative splice isoforms for AMOT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMOT Gene

Post-translational modifications for AMOT Gene

  • Polyubiquitinated by NEDD4, NEDD4L and ITCH, leading to proteasomal degradation.
  • Ubiquitination at Lys94, Lys113, and Lys219
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AMOT Gene

Domains & Families for AMOT Gene

Gene Families for AMOT Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AMOT Gene

Suggested Antigen Peptide Sequences for AMOT Gene

GenScript: Design optimal peptide antigens:
  • AMOT protein (A2BDD9_HUMAN)
  • Angiomotin (AMOT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4VCS5

UniProtKB/Swiss-Prot:

AMOT_HUMAN :
  • The coiled coil domain interacts directly with the BAR domain of ARHGAP17.
  • Belongs to the angiomotin family.
Domain:
  • The coiled coil domain interacts directly with the BAR domain of ARHGAP17.
  • The angiostatin binding domain (871-1005) allows the binding to angiostatin.
Family:
  • Belongs to the angiomotin family.
genes like me logo Genes that share domains with AMOT: view

Function for AMOT Gene

Molecular function for AMOT Gene

UniProtKB/Swiss-Prot Function:
Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also play a role in the assembly of endothelial cell-cell junctions.

Gene Ontology (GO) - Molecular Function for AMOT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11257124
GO:0038023 signaling receptor activity IDA 11257124
GO:0043532 angiostatin binding IDA 11257124
genes like me logo Genes that share ontologies with AMOT: view
genes like me logo Genes that share phenotypes with AMOT: view

Animal Models for AMOT Gene

MGI Knock Outs for AMOT:

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AMOT Gene

Localization for AMOT Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMOT Gene

Cell junction, tight junction. Note=Localized on the cell surface. May act as a transmembrane protein.

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 AMOT gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 4
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMOT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA --
GO:0001726 ruffle IDA 11257124
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AMOT: view

Pathways & Interactions for AMOT Gene

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

Pathways by source for AMOT Gene

2 Reactome pathways for AMOT Gene
2 KEGG pathways for AMOT Gene
2 Cell Signaling Technology pathways for AMOT Gene

SIGNOR curated interactions for AMOT Gene

Inactivates:

Gene Ontology (GO) - Biological Process for AMOT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IBA 21873635
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001702 gastrulation with mouth forming second IEA --
GO:0003365 establishment of cell polarity involved in ameboidal cell migration IBA 21873635
genes like me logo Genes that share ontologies with AMOT: view

Drugs & Compounds for AMOT Gene

No Compound Related Data Available

Transcripts for AMOT Gene

mRNA/cDNA for AMOT Gene

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

Inhibitory RNAs for research

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

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1:
SP2:
SP3:
SP4:
SP5: - - - - - -
SP6:
SP7: -
SP8:

Relevant External Links for AMOT Gene

GeneLoc Exon Structure for
AMOT

Expression for AMOT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AMOT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (x4.4).

Protein differential expression in normal tissues from HIPED for AMOT Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (45.4) and Blymphocyte (6.3).

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



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

SOURCE GeneReport for Unigene cluster for AMOT Gene:

Hs.528051

mRNA Expression by UniProt/SwissProt for AMOT Gene:

Q4VCS5-AMOT_HUMAN
Tissue specificity: Expressed in placenta and skeletal muscle. Found in the endothelial cells of capillaries as well as larger vessels of the placenta.

Evidence on tissue expression from TISSUES for AMOT Gene

  • Nervous system(4.6)
  • Muscle(2.6)
  • Kidney(2.3)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with AMOT: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AMOT Gene

Orthologs for AMOT Gene

This gene was present in the common ancestor of animals.

Orthologs for AMOT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AMOT 29 30
  • 99.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AMOT 29 30
  • 92.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AMOT 29 30
  • 91.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Amot 29 16 30
  • 87.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Amot 29
  • 87.51 (n)
Oppossum
(Monodelphis domestica)
Mammalia AMOT 30
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AMOT 30
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AMOT 29 30
  • 75.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AMOT 30
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia amot 29
  • 68.94 (n)
Zebrafish
(Danio rerio)
Actinopterygii amot 29 30
  • 64.53 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F59C12.3 30
  • 20 (a)
OneToMany
Species where no ortholog for AMOT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 AMOT Gene

ENSEMBL:
Gene Tree for AMOT (if available)
TreeFam:
Gene Tree for AMOT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AMOT: view image
Alliance of Genome Resources:
Additional Orthologs for AMOT

Paralogs for AMOT Gene

Paralogs for AMOT Gene

(2) SIMAP similar genes for AMOT Gene using alignment to 4 proteins:

  • AMOT_HUMAN
  • A2BDD9_HUMAN
  • A6NP16_HUMAN
  • E7ERM3_HUMAN
genes like me logo Genes that share paralogs with AMOT: view

Variants for AMOT Gene

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

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs138992506 Benign: not provided 112,779,059(-) G/A
NM_001113490.1(AMOT):c.3095C>T (p.Ala1032Val)
MISSENSE
rs140857846 Likely Benign: not provided 112,779,653(-) G/T
NM_001113490.1(AMOT):c.2501C>A (p.Ala834Asp)
MISSENSE
rs143986904 Benign: not provided 112,815,802(-) A/G
NM_001113490.1(AMOT):c.948T>C (p.Ser316=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs147756573 Benign: not provided 112,811,385(-) T/C
NM_001113490.1(AMOT):c.1401A>G (p.Thr467=)
SYNONYMOUS
rs147791527 Benign: not provided 112,779,459(-) T/C
NM_001113490.1(AMOT):c.2695A>G (p.Thr899Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AMOT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3361732 OTHER inversion 20981092
esv3574314 CNV loss 25503493

Variation tolerance for AMOT Gene

Residual Variation Intolerance Score: 20.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.74; 57.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMOT Gene

Human Gene Mutation Database (HGMD)
AMOT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMOT
Leiden Open Variation Database (LOVD)
AMOT

SNP Genotyping and Copy Number Assays for research

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

Disorders for AMOT Gene

MalaCards: The human disease database

(6) MalaCards diseases for AMOT Gene - From: COP and GCD

Disorder Aliases PubMed IDs
papilloma
  • papillomatosis
myeloproliferative syndrome, transient
  • mst
nasal cavity benign neoplasm
  • neoplasm of nasal cavity
wilson-turner x-linked mental retardation syndrome
  • wts
meningioma, familial
  • meningioma, familial, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search AMOT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMOT

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AMOT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AMOT Gene

Publications for AMOT Gene

  1. Angiomotin: an angiostatin binding protein that regulates endothelial cell migration and tube formation. (PMID: 11257124) Troyanovsky B … Holmgren L (The Journal of cell biology 2001) 2 3 4 22
  2. A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells. (PMID: 16678097) Wells CD … Pawson T (Cell 2006) 3 4 22
  3. Angiomotin regulates endothelial cell-cell junctions and cell motility. (PMID: 16043488) Bratt A … Holmgren L (The Journal of biological chemistry 2005) 2 3 4
  4. Angiomotin belongs to a novel protein family with conserved coiled-coil and PDZ binding domains. (PMID: 12406577) Bratt A … Meir EG (Gene 2002) 2 3 22
  5. The Nedd4-like ubiquitin E3 ligases target angiomotin/p130 to ubiquitin-dependent degradation. (PMID: 22385262) Wang C … Yu L (The Biochemical journal 2012) 3 4

Products for AMOT Gene

Sources for AMOT Gene