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AMOTL1 angiomotin like 1 [ Homo sapiens (human) ]

Gene ID: 154810, updated on 13-Apr-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
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Genomic context

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Location:
11q21
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (94706460..94876748)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (94713440..94883739)
105.20220307 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
  • 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. 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,
  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. 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
  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. Angiomotin-like 1 plays a tumor-promoting role in glioma by enhancing the activation of YAP1 signaling. Xu G, et al. Environ Toxicol, 2021 Dec. PMID 34480788

See all (77) 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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NEW Try the new Transcript table

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_2023_10

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

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