1. Gene
  2. AMOTL1 - angiomotin like 1 Gene

AMOTL1 - angiomotin like 1 Gene

Homo sapiens

Also known as JEAP

Gene ID: 154810 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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