Human Gene AMOTL1 (ENST00000317829.12) from GENCODE V44
  Description: Homo sapiens angiomotin like 1 (AMOTL1), transcript variant 2, mRNA. (from RefSeq NM_001301007)
RefSeq Summary (NM_001301007): 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].
Gencode Transcript: ENST00000317829.12
Gencode Gene: ENSG00000166025.18
Transcript (Including UTRs)
   Position: hg38 chr11:94,768,342-94,876,748 Size: 108,407 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr11:94,768,512-94,870,795 Size: 102,284 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:94,768,342-94,876,748)mRNA (may differ from genome)Protein (906 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AMOL1_HUMAN
DESCRIPTION: RecName: Full=Angiomotin-like protein 1;
FUNCTION: Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus.
SUBCELLULAR LOCATION: Cell junction, tight junction (By similarity).
PTM: Polyubiquitinated by NEDD4, leading to proteasomal degradation.
SIMILARITY: Belongs to the angiomotin family.
SEQUENCE CAUTION: Sequence=BAB84910.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB84910.1; Type=Frameshift; Positions=592, 944;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AMOTL1
Diseases sorted by gene-association score: splenic marginal zone lymphoma (11)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.86 RPKM in Muscle - Skeletal
Total median expression: 482.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -78.30170-0.461 Picture PostScript Text
3' UTR -1883.105953-0.316 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009114 - Angiomotin
IPR024646 - Angiomotin_C

Pfam Domains:
PF12240 - Angiomotin C terminal

ModBase Predicted Comparative 3D Structure on Q8IY63
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042802 identical protein binding

Biological Process:
GO:0003365 establishment of cell polarity involved in ameboidal cell migration
GO:0016055 Wnt signaling pathway
GO:0035329 hippo signaling
GO:0043536 positive regulation of blood vessel endothelial cell migration

Cellular Component:
GO:0005829 cytosol
GO:0005923 bicellular tight junction
GO:0016324 apical plasma membrane
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0031410 cytoplasmic vesicle
GO:0008180 COP9 signalosome


-  Descriptions from all associated GenBank mRNAs
  BX648729 - Homo sapiens mRNA; cDNA DKFZp451H0710 (from clone DKFZp451H0710).
AK093699 - Homo sapiens cDNA FLJ36380 fis, clone THYMU2008383.
AX748266 - Sequence 1791 from Patent EP1308459.
AF453742 - Homo sapiens angiomotin like 1 (Amotl1) mRNA, partial cds.
BC037539 - Homo sapiens angiomotin like 1, mRNA (cDNA clone MGC:45737 IMAGE:3533422), complete cds.
AK074084 - Homo sapiens mRNA for FLJ00155 protein.
AM393663 - Synthetic construct Homo sapiens clone IMAGE:100002205 for hypothetical protein (AMOTL1 gene).
BC014126 - Homo sapiens, Similar to RIKEN cDNA 4932416D09 gene, clone IMAGE:4578228, mRNA, partial cds.
AL833833 - Homo sapiens mRNA; cDNA DKFZp434O2216 (from clone DKFZp434O2216).
BC040683 - Homo sapiens, Similar to angiomotin like 1, clone IMAGE:5420889, mRNA.
JD064447 - Sequence 45471 from Patent EP1572962.
JD328387 - Sequence 309411 from Patent EP1572962.
JD242473 - Sequence 223497 from Patent EP1572962.
JD559940 - Sequence 540964 from Patent EP1572962.
JD113591 - Sequence 94615 from Patent EP1572962.
JD333970 - Sequence 314994 from Patent EP1572962.
JD328091 - Sequence 309115 from Patent EP1572962.
JD302232 - Sequence 283256 from Patent EP1572962.
JD460089 - Sequence 441113 from Patent EP1572962.
JD282737 - Sequence 263761 from Patent EP1572962.
JD080850 - Sequence 61874 from Patent EP1572962.
JD490332 - Sequence 471356 from Patent EP1572962.
JD201194 - Sequence 182218 from Patent EP1572962.
JD429494 - Sequence 410518 from Patent EP1572962.
JD298496 - Sequence 279520 from Patent EP1572962.
JD086326 - Sequence 67350 from Patent EP1572962.
JD172273 - Sequence 153297 from Patent EP1572962.
JD242309 - Sequence 223333 from Patent EP1572962.
JD482509 - Sequence 463533 from Patent EP1572962.
JD529993 - Sequence 511017 from Patent EP1572962.
JD326610 - Sequence 307634 from Patent EP1572962.
JD537720 - Sequence 518744 from Patent EP1572962.
JD058646 - Sequence 39670 from Patent EP1572962.
JD167308 - Sequence 148332 from Patent EP1572962.
JD564671 - Sequence 545695 from Patent EP1572962.
AK024350 - Homo sapiens cDNA FLJ14288 fis, clone PLACE1006382.
AL137281 - Homo sapiens mRNA; cDNA DKFZp434C2016 (from clone DKFZp434C2016).
BC018449 - Homo sapiens cDNA clone IMAGE:4517085, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04530 - Tight junction

Reactome (by CSHL, EBI, and GO)

Protein Q8IY63 (Reactome details) participates in the following event(s):

R-HSA-2028724 AMOT proteins bind YAP1
R-HSA-2028735 AMOT proteins bind WWTR1 (TAZ)
R-HSA-2028269 Signaling by Hippo
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: AMOL1_HUMAN, ENST00000317829.1, ENST00000317829.10, ENST00000317829.11, ENST00000317829.2, ENST00000317829.3, ENST00000317829.4, ENST00000317829.5, ENST00000317829.6, ENST00000317829.7, ENST00000317829.8, ENST00000317829.9, NM_001301007, Q63HK7, Q8IY63, Q8NDN0, Q8TEN8, Q8WXD1, Q96CM5, uc001pfc.1, uc001pfc.2, uc001pfc.3, uc001pfc.4
UCSC ID: ENST00000317829.12
RefSeq Accession: NM_001301007
Protein: Q8IY63 (aka AMOL1_HUMAN)
CCDS: CCDS73368.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.