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    AMOTL1 angiomotin like 1 [ Homo sapiens (human) ]

    Gene ID: 154810, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AMOTL1provided by HGNC
    Official Full Name
    angiomotin like 1provided by HGNC
    Primary source
    HGNC:HGNC:17811
    See related
    Ensembl:ENSG00000166025 MIM:614657; AllianceGenome:HGNC:17811
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JEAP
    Summary
    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]
    Expression
    Ubiquitous expression in prostate (RPKM 15.5), esophagus (RPKM 14.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AMOTL1 in Genome Data Viewer
    Location:
    11q21
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (94706460..94876748)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (94713440..94883739)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (94501522..94609913)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene PIWIL4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94300071-94300572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94300573-94301072 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:94317056-94318255 Neighboring gene piwi like RNA-mediated gene silencing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5405 Neighboring gene MPRA-validated peak1402 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94373181-94373680 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:94379786-94380519 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:94382939-94383514 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:94389595-94390531 Neighboring gene long intergenic non-protein coding RNA 2700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94404975-94405474 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:94439150-94440349 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:94467520-94468192 Neighboring gene Sharpr-MPRA regulatory region 14517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94522022-94522522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94522523-94523023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94609589-94610100 Neighboring gene ST13, Hsp70 interacting protein pseudogene 11 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:94705997-94706772 Neighboring gene CWC15 spliceosome associated protein homolog

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Energy stress regulates hippo-YAP signaling involving AMPK-mediated regulation of angiomotin-like 1 protein. DeRan M, et al. Cell Rep, 2014 Oct 23. PMID 25373897, Free PMC Article
    2. De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features. Rips J, et al. Am J Med Genet A, 2021 Jan. PMID 33026150
    3. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. Strong A, et al. Am J Med Genet A, 2023 May. PMID 36751037, Free PMC Article
    4. PIV5 M protein interaction with host protein angiomotin-like 1. Pei Z, et al. Virology, 2010 Feb 5. PMID 19932912, Free PMC Article
    5. Multivalent Angiomotin-like 1 and Yes-associated protein form a dynamic complex. Vogel A, et al. Protein Sci, 2022 May. PMID 35481651, Free PMC Article

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SRSF3/AMOTL1 splicing axis promotes the tumorigenesis of nasopharyngeal carcinoma through regulating the nucleus translocation of YAP1.
      Title: SRSF3/AMOTL1 splicing axis promotes the tumorigenesis of nasopharyngeal carcinoma through regulating the nucleus translocation of YAP1.
    2. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
      Title: A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
    3. Angiomotin-like 1 plays a tumor-promoting role in glioma by enhancing the activation of YAP1 signaling.
      Title: Angiomotin-like 1 plays a tumor-promoting role in glioma by enhancing the activation of YAP1 signaling.
    4. De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.
      Title: De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.
    5. AMOTL1 enhances YAP1 stability and promotes YAP1-driven gastric oncogenesis.
      Title: AMOTL1 enhances YAP1 stability and promotes YAP1-driven gastric oncogenesis.
    6. We found that AMOTL1 could link together parainfluenza virus 5 M proteins and NEDD4 family proteins.
      Title: Angiomotin-Like 1 Links Paramyxovirus M Proteins to NEDD4 Family Ubiquitin Ligases.
    7. RBM25 binds directly to circAMOTL1L and induces its biogenesis, whereas p53 regulates EMT via direct activation of RBM25 gene.
      Title: Dysregulation of p53-RBM25-mediated circAMOTL1L biogenesis contributes to prostate cancer progression through the circAMOTL1L-miR-193a-5p-Pcdha pathway.
    8. HECW2, a novel EC ubiquitin E3 ligase, plays a critical role in stabilizing endothelial cell-to-cell junctions by regulating AMOT-like 1 (AMOTL1) stability.
      Title: The endothelial E3 ligase HECW2 promotes endothelial cell junctions by increasing AMOTL1 protein stability via K63-linked ubiquitination.
    9. AMOTL1 Promotes Breast Cancer Progression and Is Antagonized by Merlin.
      Title: AMOTL1 Promotes Breast Cancer Progression and Is Antagonized by Merlin.
    10. phosphorylation-deficient S793Ala mutant of AMOTL1 showed a shorter half-life and conferred resistance to energy-stress-induced YAP inhibition.
      Title: Energy stress regulates hippo-YAP signaling involving AMPK-mediated regulation of angiomotin-like 1 protein.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Knockdown of Angiomotin (AMOT) by siRNA inhibits HIV-1 release and infectivity, but expression of AMOT-like protein 1 and AMOT-like protein 2 can rescue HIV-1 Gag release PubMed
    gag Angiomotin (AMOT), AMOT-like protein 1, and AMOT-like protein 2 bind directly and specifically to NEDD4L and HIV-1 Gag-delta p6 in protein pull-down experiments PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of cell polarity involved in ameboidal cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hippo signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    angiomotin-like protein 1
    Names
    junction-enriched and associated protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001301007.2 → NP_001287936.1  angiomotin-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001287936.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AP001152, BC014126, BX648729
      Consensus CDS
      CCDS73368.1
      UniProtKB/Swiss-Prot
      Q8IY63
      Related
      ENSP00000320968.8, ENST00000317829.12
      Conserved Domains (2) summary
      pfam12240
      Location:555 → 757
      Angiomotin_C; Angiomotin C terminal
      cl12013
      Location:417 → 589
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. NM_130847.3 → NP_570899.1  angiomotin-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_570899.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP001152, BC037539, BX648729
      Consensus CDS
      CCDS44712.1
      UniProtKB/Swiss-Prot
      Q63HK7, Q8IY63, Q8NDN0, Q8TEN8, Q8WXD1, Q96CM5
      Related
      ENSP00000387739.2, ENST00000433060.3
      Conserved Domains (2) summary
      pfam12240
      Location:605 → 807
      Angiomotin_C; Angiomotin C terminal
      cl12013
      Location:467 → 639
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      94706460..94876748
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273798.5 → XP_005273855.1  angiomotin-like protein 1 isoform X1

      Conserved Domains (2) summary
      pfam12240
      Location:634 → 836
      Angiomotin_C; Angiomotin C terminal
      cl12013
      Location:496 → 668
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. XM_011542626.3 → XP_011540928.1  angiomotin-like protein 1 isoform X2

      Conserved Domains (2) summary
      pfam12240
      Location:584 → 786
      Angiomotin_C; Angiomotin C terminal
      cl12013
      Location:446 → 618
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. XM_006718772.4 → XP_006718835.1  angiomotin-like protein 1 isoform X4

      Conserved Domains (2) summary
      pfam12240
      Location:634 → 677
      Angiomotin_C; Angiomotin C terminal
      cl12013
      Location:496 → 668
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    4. XM_047426452.1 → XP_047282408.1  angiomotin-like protein 1 isoform X6

    5. XM_047426451.1 → XP_047282407.1  angiomotin-like protein 1 isoform X5

    6. XM_047426453.1 → XP_047282409.1  angiomotin-like protein 1 isoform X8

    7. XM_047426450.1 → XP_047282406.1  angiomotin-like protein 1 isoform X3

    8. XM_005273801.5 → XP_005273858.1  angiomotin-like protein 1 isoform X3

      See identical proteins and their annotated locations for XP_005273858.1

      Conserved Domains (2) summary
      pfam12240
      Location:519 → 721
      Angiomotin_C; Angiomotin C terminal
      cl12013
      Location:381 → 553
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    9. XM_011542628.3 → XP_011540930.1  angiomotin-like protein 1 isoform X7

      Conserved Domains (2) summary
      pfam12240
      Location:253 → 455
      Angiomotin_C; Angiomotin C terminal
      cl12013
      Location:115 → 287
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      94713440..94883739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367814.1 → XP_054223789.1  angiomotin-like protein 1 isoform X4

    2. XM_054367811.1 → XP_054223786.1  angiomotin-like protein 1 isoform X1

    3. XM_054367812.1 → XP_054223787.1  angiomotin-like protein 1 isoform X2

    4. XM_054367816.1 → XP_054223791.1  angiomotin-like protein 1 isoform X6

    5. XM_054367815.1 → XP_054223790.1  angiomotin-like protein 1 isoform X5

    6. XM_054367818.1 → XP_054223793.1  angiomotin-like protein 1 isoform X8

    7. XM_054367813.1 → XP_054223788.1  angiomotin-like protein 1 isoform X3

    8. XM_054367817.1 → XP_054223792.1  angiomotin-like protein 1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IY63.1 GenPept UniProtKB/Swiss-Prot:Q8IY63

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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