AMOTL1 - angiomotin like 1 Gene

Also Known as JEAP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 154810

About AMOTL1

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:94,706,460-94,876,748 (from NCBI)

This gene has 5 transcripts (splice variants), 140 orthologues and 2 paralogues. Ubiquitous expression in prostate (RPKM 15.5), esophagus (RPKM 14.1) and 24 other tissues.

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]

AMOTL1 Products (2)

mRNA Protein Name
NM_001301007.2 NP_001287936.1 angiomotin-like protein 1 isoform 2
NM_130847.3 NP_570899.1 angiomotin-like protein 1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IDA
IDA: Inferred from direct assay
16019084 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21187284 GOA
Cellular Component GO Annotation Evidence References Source
part of COP9 signalosome IDA
IDA: Inferred from direct assay
18850735 GOA
located in bicellular tight junction IDA
IDA: Inferred from direct assay
16019084 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AMOTL1 Protein Structure

Angiomotin_C

Angiomotin_C: Angiomotin C terminal (605 - 812)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 956 a.a.
Protein Preferred Names Protein Names

angiomotin-like protein 1

  • junction-enriched and associated protein

Related Diseases

Diseases Alias
Tethered Spinal Cord Syndrome
  • Spinal Dysraphism

  • Tethered Cord Syndrome

  • Occult Spinal Dysraphism

  • Occult Spinal Dysraphism Sequence

  • Segmental Vertebral Anomalies

  • Tethered Spinal Cord Disease

  • Tethered Cord

  • Spina Bifida Occulta

  • Cryptomerorachischisis

  • Spina Bifida Occulta With Tethered Spinal Cord

  • Sbo - [Spina Bifida Occulta]

Cleft Lip/Palate
  • Cleft Lip And Palate

  • Alveolar Cleft Lip And Palate

  • Cleft Lip-Alveolus-Palate Syndrome

  • Flp

Hypertelorism
  • Eyes Wide Apart

  • Eyes Widely Set

  • Hypertelorism Of Orbit

  • Ocular Hypertelorism

  • Orbital Separation Excessive

Spinocerebellar Ataxia 45
  • SCA45

  • Spinocerebellar Ataxia Type 45

Pharynx Squamous Cell Carcinoma
Meningioma, Familial
  • Meningioma

  • Familial Meningioma

  • Meningioma, Familial, Susceptibility To

  • Meningeal Neoplasm

  • Meningeal Neoplasms

  • Meningiomas

  • Meningioma, Nf2-Related, Somatic

  • Meningioma, Sis-Related

  • Meningothelial Cell Tumor

  • Neoplasm Of The Meninges

  • Primary Meningeal Tumor

  • Familial Multiple Meningioma

  • MNGMA

  • Meningioma, Benign, No Icd-O Subtype

  • Intracranial Meningioma

  • Meningothelial Cell Neoplasm

  • Supratentorial Meningioma

  • Primary Neoplasm Of Spinal Meninges

  • Benign Intracranial Meningioma

  • Benign Meningioma

  • Meningeal Tumours

  • Meningeal Sarcoma Of Unspecified Site

  • Meningothelial Sarcoma Of Unspecified Site

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta AMOTL1 VGNC VGNC:69628
Canis familiaris AMOTL1 VGNC VGNC:37836
Mus musculus AMOTL1 MGD MGI:1922973
Rattus norvegicus AMOTL1 RGD RGD:1305268
Bos taurus AMOTL1 VGNC VGNC:25871
Felis catus AMOTL1 VGNC VGNC:59770
Others AMOTL1 NCBI