Seroatlas · Human Serome Atlas

AMOTL1

Angiomotin-like protein 1

Also known as: AMOL1_HUMAN, JEAP

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8IY63
Gene
AMOTL1
Ensembl
ENSG00000166025
Chromosome
11
Canonical length
956 aa
Protein class
Predicted intracellular proteins
Subcellular location
Cell Junctions,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

956 residues, UniProt reviewed canonical sequence.

>Q8IY63|AMOTL1
     1  MWRAKLRRGT CEPAVKGSPS ACYSPSSPVQ VLEDSTYFSP DFQLYSGRHE TSALTVEATS
    61  SIREKVVEDP LCNFHSPNFL RISEVEMRGS EDAAAGTVLQ RLIQEQLRYG TPTENMNLLA
   121  IQHQATGSAG PAHPTNNFSS TENLTQEDPQ MVYQSARQEP QGQEHQVDNT VMEKQVRSTQ
   181  PQQNNEELPT YEEAKAQSQF FRGQQQQQQQ QGAVGHGYYM AGGTSQKSRT EGRPTVNRAN
   241  SGQAHKDEAL KELKQGHVRS LSERIMQLSL ERNGAKQHLP GSGNGKGFKV GGGPSPAQPA
   301  GKVLDPRGPP PEYPFKTKQM MSPVSKTQEH GLFYGDQHPG MLHEMVKPYP APQPVRTDVA
   361  VLRYQPPPEY GVTSRPCQLP FPSTMQQHSP MSSQTSSASG PLHSVSLPLP LPMALGAPQP
   421  PPAASPSQQL GPDAFAIVER AQQMVEILTE ENRVLHQELQ GYYDNADKLH KFEKELQRIS
   481  EAYESLVKST TKRESLDKAM RNKLEGEIRR LHDFNRDLRD RLETANRQLS SREYEGHEDK
   541  AAEGHYASQN KEFLKEKEKL EMELAAVRTA SEDHRRHIEI LDQALSNAQA RVIKLEEELR
   601  EKQAYVEKVE KLQQALTQLQ SACEKREQME RRLRTWLERE LDALRTQQKH GNGQPANMPE
   661  YNAPALLELV REKEERILAL EADMTKWEQK YLEESTIRHF AMNAAATAAA ERDTTIINHS
   721  RNGSYGESSL EAHIWQEEEE VVQANRRCQD MEYTIKNLHA KIIEKDAMIK VLQQRSRKDA
   781  GKTDSSSLRP ARSVPSIAAA TGTHSRQTSL TSSQLAEEKK EEKTWKGSIG LLLGKEHHEH
   841  ASAPLLPPPP TSALSSIAST TAASSAHAKT GSKDSSTQTD KSAELFWPSM ASLPSRGRLS
   901  TTPAHSPVLK HPAAKGTAEK LENSPGHGKS PDHRGRVSSL LHKPEFPDGE MMEVLI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMOTL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.62
Highest tissue expression
105 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 105 nTPM
  • tongue: 67 nTPM
  • colon: 34 nTPM
  • prostate: 30 nTPM
  • esophagus: 29 nTPM
  • urinary bladder: 26 nTPM

Single-cell type

  • thymic myoid cells: 831 nCPM
  • myonuclei: 391 nCPM
  • medullary thymic epithelial cells: 226 nCPM
  • early spermatids: 202 nCPM
  • ocular epithelial cells: 189 nCPM
  • pituicytes/fscs: 182 nCPM

Immune cell

  • naive B-cell: 0.7 nTPM
  • NK-cell: 0.5 nTPM
  • plasmacytoid DC: 0.2 nTPM
  • classical monocyte: 0.1 nTPM
  • intermediate monocyte: 0.1 nTPM
  • myeloid DC: 0.1 nTPM

Brain region

  • thalamus: 77 nTPM
  • midbrain: 76 nTPM
  • amygdala: 46 nTPM
  • pons: 42 nTPM
  • medulla oblongata: 40 nTPM
  • hypothalamus: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMOTL1.

Disease | AllUniProt

Conditions AMOTL1 is implicated in, by any mechanism.

  • Craniofaciocardiohepatic syndrome (CFCHS) MIM:621192

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 178 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Craniofaciocardiohepatic syndrome
  • AMOTL1-associated disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.47
gnomAD pLI
0
gnomAD missense Z
1.22
DepMap mean gene effect
0
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AMOTL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AMOTL1 as an antibody target. Whether an autoantibody or antibody against AMOTL1 could matter depends on whether native AMOTL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AMOTL1 is annotated at the cell surface, where native AMOTL1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label AMOTL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/AMOTL1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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