Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

AMOT (angiomotin)

Written2010-03Roshan Mandrawalia, Ranjan Tamuli
Department of Biotechnology, Indian Institute of Technology Guwahati, Guwahati-781 039, Assam, India

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)KIAA1071
Other alias
HGNC (Hugo) AMOT
LocusID (NCBI) 154796
Atlas_Id 632
Location Xq23  [Link to chromosome band Xq23]
Location_base_pair Starts at 112774877 and ends at 112823126 bp from pter ( according to hg19-Feb_2009)  [Mapping AMOT.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BCL11B (14q32.2) / AMOT (Xq23)COL3A1 (2q32.2) / AMOT (Xq23)

DNA/RNA

 
Description DNA size 66.31 kb, mRNA size 6888 bp, 12 exons.

Protein

 
Description Angiomotin protein is 1084 amino acid residues in length. It contains two coiled coil domains 429-689 (261), 721-751 (31), a PDZ-binding motif 1081-1084 (4), a SMC_prok_B region 429-549 (121), and an angiomotin_C terminal 599-794 (196). Phosphorylations occur on S305, S312, S712, S714, T717, Y719, and T1061. Phosphorylated upon DNA damage, probably by ATM or ATR.
Isoforms:
- Isoform 1: p130 angiomotin
1084 amino acids, 118085 Da. This isoform has been chosen as the 'canonical' sequence.
- Isoform 2: p80 angiomotin
675 amino acids, 72540 Da. The isoform differs from the canonical sequence with N-terminal alternative splicing region 1-409 (409) missing, which mediates the binding of angiomotin to F-actin stress fibres. The SMC_prok_B region is also missing in this isoform.
Expression Expressed in placenta and skeletal muscle. Predominantly expressed in endothelial cells of capillaries, larger vessels of the placenta.
Localisation Cell junction, tight junction. Localized on the cell surface. May act as a transmembrane protein.
Function Mediates inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels in the larger vessels of the placenta. Isoform-1 is found to control cell shape by association with F-actin fibres through N-terminal part of protein. The isoform 2 (p80) promotes angiogenesis, in part, by conferring a hypermigratory phenotype to endothelial cells.
Homology The percent identity below represents identity of AMOT over an aligned region in Unigene.
Mus musculus: 88.1 (percent identity)
Oryctolagus cuniculus: 79
Sus scrofa: 72
Danio rerio: 68.9
Fugu rubripes: 65
Xenopus laevis: 61.8
Caenorhabditis elegans: 46
Saccharomyces cerevisiae: 47
Drosophila melanogaster: 36

Mutations

Note Several polymorphisms have been found but none of them has shown any association with a disease. Furthermore, endothelial cells expressing mutated angiomotins have been reported failure in their function, including failure to migrate and inhibition of angiogenesis. Mutation with deletion of three amino acids from PDZ-binding motif results in inhibition of chemotaxis, embryos with this mutation may lead to death on embryonic day 9.5.

Implicated in

Note
  
Entity Breast cancer
Note Angiomotin is linked to angiogenesis and aggressive nature of breast tumours. Angiomotin shows high level of expression in mammary tissues during tumour stages as compared to normal expression level (33.1 ± 11 in normal versus 86.5 ± 13.7 in tumour tissues, p=0.0003). Significant high expression was found in aggressive tumours (grade 2, grade 3 and with nodal involvement) compared with less aggressive grade 1 tumour (p<0.001 and p=0.05 respectively). Angiogenesis is the essential process in the development and spread of breast cancer, by providing blood supply to tumours and escape route for tumour cells to other part of the body.
  
  
Entity Hemangioendothelioma invasion
Disease Angiomotin expression promotes hemangioendothelioma invasion. Expression of human angiomotin in mouse aortic endothelial (MAE) cells results in stabilization of tubes in the Matrigel assay. Cells from the established tubes invaded into the solidified matrigel, however, cells expressing a functional mutant lacking the PDZ protein interaction motif did not migrate and form tubes. Angiomotin may promote angiogenesis by both stimulating invasion as well as stabilizing established tubes.
  
  
Entity Endothelial cell migration and tube formation
Note Upon expression of angiomotin in HeLa cells, angiomotin bound and internalized fluorescein-labeled angiostatin, a circulating inhibitor of angiogenesis. In endothelial cells, angiomotin protein is localized to the leading edge of migrating cells and results in increased cell migration. Angiomotin-transfected MAE cells bind and respond to angiostatin by inhibition of cell migration and tube formation, which suggest that angiomotin regulates endothelial cell migration and tube formation.
  

Bibliography

Angiomotin regulates endothelial cell-cell junctions and cell motility.
Bratt A, Birot O, Sinha I, Veitonmaki N, Aase K, Ernkvist M, Holmgren L.
J Biol Chem. 2005 Oct 14;280(41):34859-69. Epub 2005 Jul 25.
PMID 16043488
 
Angiomotin belongs to a novel protein family with conserved coiled-coil and PDZ binding domains.
Bratt A, Wilson WJ, Troyanovsky B, Aase K, Kessler R, Van Meir EG, Holmgren L.
Gene. 2002 Sep 18;298(1):69-77.
PMID 12406577
 
The Amot/Patj/Syx signaling complex spatially controls RhoA GTPase activity in migrating endothelial cells.
Ernkvist M, Luna Persson N, Audebert S, Lecine P, Sinha I, Liu M, Schlueter M, Horowitz A, Aase K, Weide T, Borg JP, Majumdar A, Holmgren L.
Blood. 2009 Jan 1;113(1):244-53. Epub 2008 Sep 29.
PMID 18824598
 
Human angiomotin-like 1 associates with an angiomotin protein complex through its coiled-coil domain and induces the remodeling of the actin cytoskeleton.
Gagne V, Moreau J, Plourde M, Lapointe M, Lord M, Gagnon E, Fernandes MJ.
Cell Motil Cytoskeleton. 2009 Sep;66(9):754-68.
PMID 19565639
 
A DNA vaccine targeting angiomotin inhibits angiogenesis and suppresses tumor growth.
Holmgren L, Ambrosino E, Birot O, Tullus C, Veitonmaki N, Levchenko T, Carlson LM, Musiani P, Iezzi M, Curcio C, Forni G, Cavallo F, Kiessling R.
Proc Natl Acad Sci U S A. 2006 Jun 13;103(24):9208-13. Epub 2006 Jun 5.
PMID 16754857
 
Angiomotin and angiomotin like proteins, their expression and correlation with angiogenesis and clinical outcome in human breast cancer.
Jiang WG, Watkins G, Douglas-Jones A, Holmgren L, Mansel RE.
BMC Cancer. 2006 Jan 23;6:16.
PMID 16430777
 
Angiomotin expression promotes hemangioendothelioma invasion.
Levchenko T, Bratt A, Arbiser JL, Holmgren L.
Oncogene. 2004 Feb 19;23(7):1469-73.
PMID 14730344
 
Angiomotin: an angiostatin binding protein that regulates endothelial cell migration and tube formation.
Troyanovsky B, Levchenko T, Mansson G, Matvijenko O, Holmgren L.
J Cell Biol. 2001 Mar 19;152(6):1247-54.
PMID 11257124
 
A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells.
Wells CD, Fawcett JP, Traweger A, Yamanaka Y, Goudreault M, Elder K, Kulkarni S, Gish G, Virag C, Lim C, Colwill K, Starostine A, Metalnikov P, Pawson T.
Cell. 2006 May 5;125(3):535-48.
PMID 16678097
 
Hold that line. Angiomotin regulates endothelial cell motility.
Zetter BR.
J Cell Biol. 2001 Mar 19;152(6):F35-6.
PMID 11257132
 

Citation

This paper should be referenced as such :
Mandrawalia, R ; Tamuli, R
AMOT (angiomotin)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(12):1121-1123.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AMOTID632chXq23.html


External links

Nomenclature
HGNC (Hugo)AMOT   17810
Cards
AtlasAMOTID632chXq23
Entrez_Gene (NCBI)AMOT  154796  angiomotin
Aliases
GeneCards (Weizmann)AMOT
Ensembl hg19 (Hinxton)ENSG00000126016 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126016 [Gene_View]  chrX:112774877-112823126 [Contig_View]  AMOT [Vega]
ICGC DataPortalENSG00000126016
TCGA cBioPortalAMOT
AceView (NCBI)AMOT
Genatlas (Paris)AMOT
WikiGenes154796
SOURCE (Princeton)AMOT
Genetics Home Reference (NIH)AMOT
Genomic and cartography
GoldenPath hg38 (UCSC)AMOT  -     chrX:112774877-112823126 -  Xq23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AMOT  -     Xq23   [Description]    (hg19-Feb_2009)
EnsemblAMOT - Xq23 [CytoView hg19]  AMOT - Xq23 [CytoView hg38]
Mapping of homologs : NCBIAMOT [Mapview hg19]  AMOT [Mapview hg38]
OMIM300410   
Gene and transcription
Genbank (Entrez)AB028994 AF286598 AK024344 AK301573 AY987378
RefSeq transcript (Entrez)NM_001113490 NM_133265
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AMOT
Cluster EST : UnigeneHs.528051 [ NCBI ]
CGAP (NCI)Hs.528051
Alternative Splicing GalleryENSG00000126016
Gene ExpressionAMOT [ NCBI-GEO ]   AMOT [ EBI - ARRAY_EXPRESS ]   AMOT [ SEEK ]   AMOT [ MEM ]
Gene Expression Viewer (FireBrowse)AMOT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)154796
GTEX Portal (Tissue expression)AMOT
Human Protein AtlasENSG00000126016-AMOT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ4VCS5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ4VCS5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ4VCS5
Splice isoforms : SwissVarQ4VCS5
PhosPhoSitePlusQ4VCS5
Domains : Interpro (EBI)Angiomotin    Angiomotin_C   
Domain families : Pfam (Sanger)Angiomotin_C (PF12240)   
Domain families : Pfam (NCBI)pfam12240   
Conserved Domain (NCBI)AMOT
DMDM Disease mutations154796
Blocks (Seattle)AMOT
SuperfamilyQ4VCS5
Human Protein Atlas [tissue]ENSG00000126016-AMOT [tissue]
Peptide AtlasQ4VCS5
HPRD02327
IPIIPI00163085   IPI00644547   IPI00908689   IPI00978494   IPI00642249   IPI01012028   
Protein Interaction databases
DIP (DOE-UCLA)Q4VCS5
IntAct (EBI)Q4VCS5
FunCoupENSG00000126016
BioGRIDAMOT
STRING (EMBL)AMOT
ZODIACAMOT
Ontologies - Pathways
QuickGOQ4VCS5
Ontology : AmiGOvasculogenesis  in utero embryonic development  gastrulation with mouth forming second  ruffle  establishment of cell polarity involved in ameboidal cell migration  receptor activity  protein binding  cytosol  actin filament  bicellular tight junction  chemotaxis  COP9 signalosome  external side of plasma membrane  negative regulation of angiogenesis  lamellipodium  actin cytoskeleton organization  endocytic vesicle  regulation of cell migration  negative regulation of GTPase activity  cellular protein localization  hippo signaling  hippo signaling  positive regulation of embryonic development  cell migration involved in gastrulation  angiostatin binding  blood vessel endothelial cell migration  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIvasculogenesis  in utero embryonic development  gastrulation with mouth forming second  ruffle  establishment of cell polarity involved in ameboidal cell migration  receptor activity  protein binding  cytosol  actin filament  bicellular tight junction  chemotaxis  COP9 signalosome  external side of plasma membrane  negative regulation of angiogenesis  lamellipodium  actin cytoskeleton organization  endocytic vesicle  regulation of cell migration  negative regulation of GTPase activity  cellular protein localization  hippo signaling  hippo signaling  positive regulation of embryonic development  cell migration involved in gastrulation  angiostatin binding  blood vessel endothelial cell migration  regulation of small GTPase mediated signal transduction  
Pathways : KEGGHippo signaling pathway   
NDEx NetworkAMOT
Atlas of Cancer Signalling NetworkAMOT
Wikipedia pathwaysAMOT
Orthology - Evolution
OrthoDB154796
GeneTree (enSembl)ENSG00000126016
Phylogenetic Trees/Animal Genes : TreeFamAMOT
HOVERGENQ4VCS5
HOGENOMQ4VCS5
Homologs : HomoloGeneAMOT
Homology/Alignments : Family Browser (UCSC)AMOT
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAMOT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMOT
dbVarAMOT
ClinVarAMOT
1000_GenomesAMOT 
Exome Variant ServerAMOT
ExAC (Exome Aggregation Consortium)ENSG00000126016
GNOMAD BrowserENSG00000126016
Genetic variants : HAPMAP154796
Genomic Variants (DGV)AMOT [DGVbeta]
DECIPHERAMOT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAMOT 
Mutations
ICGC Data PortalAMOT 
TCGA Data PortalAMOT 
Broad Tumor PortalAMOT
OASIS PortalAMOT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMOT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAMOT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch AMOT
DgiDB (Drug Gene Interaction Database)AMOT
DoCM (Curated mutations)AMOT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AMOT (select a term)
intoGenAMOT
NCG5 (London)AMOT
Cancer3DAMOT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300410   
Orphanet
MedgenAMOT
Genetic Testing Registry AMOT
NextProtQ4VCS5 [Medical]
TSGene154796
GENETestsAMOT
Target ValidationAMOT
Huge Navigator AMOT [HugePedia]
snp3D : Map Gene to Disease154796
BioCentury BCIQAMOT
ClinGenAMOT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD154796
Chemical/Pharm GKB GenePA24773
Clinical trialAMOT
Miscellaneous
canSAR (ICR)AMOT (select the gene name)
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAMOT
EVEXAMOT
GoPubMedAMOT
iHOPAMOT
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 12 16:16:05 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.