1. Gene
  2. AMOTL1 - angiomotin like 1 Gene

AMOTL1 - angiomotin like 1 Gene

中文名称:血管动蛋白样 1

种属: Homo sapiens

同用名: JEAP

基因 ID: 154810 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是一种外周膜蛋白,它是紧密连接或 TJ 的一个组成部分。 TJ 形成顶端连接结构,并起到控制细胞旁通透性和维持细胞极性的作用。这种蛋白质与血管动蛋白有关,血管动蛋白是一种调节内皮细胞迁移和毛细血管形成的血管抑制素结合蛋白。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2014 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IDA
IDA: 通过直接分析推断
16019084 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21187284 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of COP9 signalosome IDA
IDA: 通过直接分析推断
18850735 GOA
located in bicellular tight junction IDA
IDA: 通过直接分析推断
16019084 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

AMOTL1 蛋白结构

Angiomotin_C

Angiomotin_C: Angiomotin C terminal (605 - 812)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 956 a.a.
蛋白主名 其他名称

angiomotin-like protein 1

junction-enriched and associated protein

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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