1. Gene
  2. APELA - apelin receptor early endogenous ligand Gene

APELA - apelin receptor early endogenous ligand Gene

中文名称:apelin 受体早期内源性配体

种属: Homo sapiens

同用名: ELA; tdl; Ende

基因 ID: 100506013 | 基因类型: protein coding

关于 APELA

Cytogenetic location: 4q32.3 Genomic coordinates (GRCh38): 4:164,877,178-164,899,007 (from NCBI)

This gene has 5 transcripts (splice variants) and 16 orthologues. Biased expression in prostate (RPKM 1.8), kidney (RPKM 0.5) and 2 other tissues.

功能概要

该基因编码一种与 Apelin 受体结合的肽激素。编码的蛋白质是斑马鱼心脏发育所必需的,并且已被证明可以通过激活 PI3K/Akt 通路来维持人类胚胎干细胞的自我更新。在人类和小鼠细胞系中进行的实验指出了编码蛋白在血管生成和血管张力调节中的其他作用。[RefSeq 提供,2016 年 7 月]

This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells through activation of the PI3K/Akt pathway. Experiments in human and mouse cell lines point to additional roles for the encoded protein in angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016]

APELA 基因产物(1)

mRNA Protein Name
NM_001297550.2 NP_001284479.1 apelin receptor early endogenous ligand precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables apelin receptor binding IDA
IDA: 通过直接分析推断
28137936 GOA
enables hormone activity IMP
IMP: 通过突变表型推断
25639753 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in apelin receptor signaling pathway IDA
IDA: 通过直接分析推断
25639753 GOA
involved in apelin receptor signaling pathway IMP
IMP: 通过突变表型推断
28137936 GOA
involved in positive regulation of G protein-coupled receptor internalization IMP
IMP: 通过突变表型推断
25639753 GOA
involved in positive regulation of angiogenesis IMP
IMP: 通过突变表型推断
25639753 GOA
involved in positive regulation of trophoblast cell migration IMP
IMP: 通过突变表型推断
28663440 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular region IDA
IDA: 通过直接分析推断
24316148 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
蛋白主名 其他名称

apelin receptor early endogenous ligand

protein Elabela

关联疾病

疾病名称 别名
Thyroid Cancer, Nonmedullary, 1

Papillary Thyroid Carcinoma

Familial Nonmedullary Thyroid Cancer, Papillary

Nonmedullary Thyroid Carcinoma, Papillary

Papillary Thyroid Cancer

NMTC1

Papillary Carcinoma Of Thyroid

Pact

Thyroid Carcinoma, Papillary

Non-Medullary Thyroid Carcinoma

Thyroid Cancer, Non-Medullary, 1

Familial Non-Medullary Thyroid Cancer

Fnmtc

Nmtc

Nonmedullary Thyroid Carcinoma

Ptc

Tpc

Thyroid Papillary Carcinoma

Cancer, Thyroid, Nonmedullary

Cancer, Thyroid, Nonmedullary, Type 1

Thyroid Carcinoma, Nonmedullary 1

Familial Nonmedullary Thyroid Gland Carcinoma

Papillary Carcinoma, Diffuse Sclerosing, Thyroid Gland

46,Xy Sex Reversal 8

SRXY8

Male Pseudohermaphroditism Due To Deficiency Of Testicular 17,20-Desmolase

Tdd

46,Xy Disorder Of Sex Development Due To Testicular 17,20-Desmolase Deficiency

46xy Sex Reversal 8

46xy Sex Reversal 8, Modifier Of

Male Pseudohermaphroditism: Deficiency Of Testicular 17,20-Desmolase

N Syndrome

NSX

Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

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

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