Format

Send to:

Choose Destination

AMOTL1 angiomotin like 1 [ Homo sapiens (human) ]

Gene ID: 154810, updated on 12-Aug-2018

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; Vega:OTTHUMG00000167828
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

Genomic context

See AMOTL1 in Genome Data Viewer
Location:
11q21
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (94706418..94876753)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (94439602..94609918)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369438 Neighboring gene piwi like RNA-mediated gene silencing 4 Neighboring gene uncharacterized LOC105369436 Neighboring gene uncharacterized LOC107984376 Neighboring gene ST13, Hsp70 interacting protein pseudogene 11 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hippo, organism-specific biosystem (from REACTOME)
    Signaling by Hippo, organism-specific biosystemHuman Hippo signaling is a network of reactions that regulates cell proliferation and apoptosis, centered on a three-step kinase cascade. The cascade was discovered by analysis of Drosophila mutation...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001301007.1NP_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, OTTHUMP00000237751, ENST00000317829.12, OTTHUMT00000397834
    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_130847.2NP_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
    Q8IY63
    UniProtKB/TrEMBL
    A0A024R3A6
    Related
    ENSP00000387739.2, OTTHUMP00000236978, ENST00000433060.2, OTTHUMT00000396474
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    94706418..94876753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718772.3XP_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
  2. XM_005273798.4XP_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
  3. XM_011542626.2XP_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
  4. XM_005273801.4XP_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
  5. XM_011542628.2XP_011540930.1  angiomotin-like protein 1 isoform X5

    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
Support Center