1. Gene
  2. ATG7 - autophagy related 7 Gene

ATG7 - autophagy related 7 Gene

中文名称:自噬相关 7

种属: Homo sapiens

同用名: GSA7; APG7L; SCAR31; APG7-LIKE

基因 ID: 10533 | 基因类型: protein coding

关于 ATG7

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:11,272,397-11,576,353 (from NCBI)

This gene has 26 transcripts (splice variants), 199 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 10.0), thyroid (RPKM 8.3) and 25 other tissues.

功能概要

该基因编码一种 E1 样激活酶,该酶对于自噬和细胞质至液泡的运输至关重要。编码的蛋白质也被认为在长期代谢应激期间调节 p53 依赖性细胞周期途径。它与多种功能相关,包括轴突膜运输、轴突稳态、线粒体自噬、脂肪分化和造血干细胞维持。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 9 月]

This gene encodes an E1-like activating Enzyme that is essential for Autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, Mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

ATG7 基因产物(10)

mRNA Protein Name
NM_001136031.3 NP_001129503.2 ubiquitin-like modifier-activating enzyme ATG7 isoform b
NM_001144912.2 NP_001138384.1 ubiquitin-like modifier-activating enzyme ATG7 isoform c
NM_001349232.2 NP_001336161.1 ubiquitin-like modifier-activating enzyme ATG7 isoform a
NM_001349233.2 NP_001336162.1 ubiquitin-like modifier-activating enzyme ATG7 isoform a
NM_001349234.2 NP_001336163.1 ubiquitin-like modifier-activating enzyme ATG7 isoform a
NM_001349235.2 NP_001336164.1 ubiquitin-like modifier-activating enzyme ATG7 isoform a
NM_001349236.2 NP_001336165.1 ubiquitin-like modifier-activating enzyme ATG7 isoform d
NM_001349237.2 NP_001336166.1 ubiquitin-like modifier-activating enzyme ATG7 isoform e
NM_001349238.2 NP_001336167.1 ubiquitin-like modifier-activating enzyme ATG7 isoform f
NM_006395.3 NP_006386.1 ubiquitin-like modifier-activating enzyme ATG7 isoform a
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 Atg12 activating enzyme activity IDA
IDA: 通过直接分析推断
37943659 GOA
enables Atg12 activating enzyme activity IMP
IMP: 通过突变表型推断
22170151 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11096062 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
11096062 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagosome assembly IMP
IMP: 通过突变表型推断
22170151 GOA
involved in autophagy IGI
IGI: 通过遗传相互作用推断
28389568 GOA
acts upstream of or within autophagy IMP
IMP: 通过突变表型推断
25327288 GOA
involved in autophagy IMP
IMP: 通过突变表型推断
20543840 GOA
involved in cellular response to hyperoxia IDA
IDA: 通过直接分析推断
20543840 GOA
involved in cellular response to starvation IDA
IDA: 通过直接分析推断
20543840 GOA
involved in cellular response to stress IDA
IDA: 通过直接分析推断
37943659 GOA
involved in defense response to virus IMP
IMP: 通过突变表型推断
23290079 GOA
involved in macroautophagy IMP
IMP: 通过突变表型推断
22354037 GOA
involved in mitophagy IGI
IGI: 通过遗传相互作用推断
19279012 GOA
involved in positive regulation of apoptotic process IMP
IMP: 通过突变表型推断
20543840 GOA
involved in positive regulation of protein catabolic process IMP
IMP: 通过突变表型推断
20543840 GOA
acts upstream of or within positive regulation of protein modification process IDA
IDA: 通过直接分析推断
12890687 GOA
acts upstream of or within protein lipidation IDA
IDA: 通过直接分析推断
12890687 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
20543840 GOA
is active in phagophore assembly site IDA
IDA: 通过直接分析推断
37943659 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

ATG7 蛋白结构

ThiF

ThiF: ThiF family (355 - 508)

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

ubiquitin-like modifier-activating enzyme ATG7

APG7 autophagy 7-like

关联疾病

疾病名称 别名
Spinocerebellar Ataxia, Autosomal Recessive 31

SCAR31

Spinocerebellar Ataxia, Autosomal Recessive, 31

Fatty Liver Disease, Nonalcoholic 1

NAFLD1

Hepatic Steatosis

Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1

Non-Alcoholic Fatty Liver Disease 1

Fatty Liver

Steatohepatitis

Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Danon Disease

Pseudoglycogenosis Ii

Antopol Disease

Glycogen Storage Disease Iib

Glycogen Storage Disease Type 2b

Glycogen Storage Disease Type Iib

Gsd2b

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency

Vacuolar Cardiomyopathy And Myopathy X-Linked

Vacuolar Cardiomyopathy And Myopathy, X-Linked

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly

Gsd2b, Formerly

Gsd Iib, Formerly

Glycogen Storage Cardiomyopathy

Glycogen Storage Disease Limited To The Heart

Pseudoglycogenosis 2

X-Linked Vacuolar Cardiomyopathy And Myopathy

Lysosomal Glycogen Storage Disease With Normal Acid Maltase

Glycogen Storage Disease Due To Lamp-2 Deficiency

Gsd Due To Lamp-2 Deficiency

Glycogenosis Due To Lamp-2 Deficiency

Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity

DAND

Gsd-Iib

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Vici Syndrome

Absent Corpus Callosum Cataract Immunodeficiency

VICIS

Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum

Dionisi Vici Sabetta Gambarara Syndrome

Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum

Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome

Dionisi-Vici-Sabetta-Gambarara Syndrome

Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Acute Laryngopharyngitis

Pharyngolaryngitis

Laryngopharyngitis

Hypopharyngitis

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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
Rattus norvegicus ATG7 RGD RGD:1304817
Mus musculus ATG7 MGD MGI:1921494
Bos taurus ATG7 VGNC VGNC:26261
Canis familiaris ATG7 VGNC VGNC:38227
Macaca mulatta ATG7 VGNC VGNC:70086
Felis catus ATG7 VGNC VGNC:60006
Others ATG7 NCBI