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AMOTL1 angiomotin like 1 [ Homo sapiens (human) ]

Gene ID: 154810, updated on 7-Jan-2024

Summary

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

See AMOTL1 in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001301007.2NP_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:555757
    Angiomotin_C; Angiomotin C terminal
    cl12013
    Location:417589
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. NM_130847.3NP_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:605807
    Angiomotin_C; Angiomotin C terminal
    cl12013
    Location:467639
    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_005273798.5XP_005273855.1  angiomotin-like protein 1 isoform X1

    Conserved Domains (2) summary
    pfam12240
    Location:634836
    Angiomotin_C; Angiomotin C terminal
    cl12013
    Location:496668
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_011542626.3XP_011540928.1  angiomotin-like protein 1 isoform X2

    Conserved Domains (2) summary
    pfam12240
    Location:584786
    Angiomotin_C; Angiomotin C terminal
    cl12013
    Location:446618
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_006718772.4XP_006718835.1  angiomotin-like protein 1 isoform X4

    Conserved Domains (2) summary
    pfam12240
    Location:634677
    Angiomotin_C; Angiomotin C terminal
    cl12013
    Location:496668
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  4. XM_047426452.1XP_047282408.1  angiomotin-like protein 1 isoform X6

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

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

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

  8. XM_005273801.5XP_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:519721
    Angiomotin_C; Angiomotin C terminal
    cl12013
    Location:381553
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  9. XM_011542628.3XP_011540930.1  angiomotin-like protein 1 isoform X7

    Conserved Domains (2) summary
    pfam12240
    Location:253455
    Angiomotin_C; Angiomotin C terminal
    cl12013
    Location:115287
    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_054367814.1XP_054223789.1  angiomotin-like protein 1 isoform X4

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

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

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

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

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

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

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