ATG16L1 - autophagy related 16 like 1 Gene

中文名称：自噬相关 16 like 1

种属: Homo sapiens

同用名: IBD10; WDR30; APG16L; ATG16A; ATG16L

基因 ID: 55054 | 基因类型: protein coding

关于 ATG16L1

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:233,251,673-233,295,669 (from NCBI)

This gene has 18 transcripts (splice variants), 1 gene allele, 207 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 12.7), testis (RPKM 12.0) and 25 other tissues.

功能概要

由该基因编码的蛋白质是自噬所必需的大型蛋白质复合物的一部分，自噬是细胞内成分靶向溶酶体进行降解的主要过程。该基因的缺陷是易患 10 型炎症性肠病 (IBD10) 的原因。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2010 年 6 月]

The protein encoded by this gene is part of a large protein complex that is necessary for Autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

ATG16L1 基因产物(6)

mRNA	Protein	Name
NM_001190266.2	NP_001177195.1	autophagy-related protein 1月16日 isoform 4
NM_001190267.2	NP_001177196.1	autophagy-related protein 1月16日 isoform 5
NM_001363742.2	NP_001350671.1	autophagy-related protein 1月16日 isoform 6
NM_017974.4	NP_060444.3	autophagy-related protein 1月16日 isoform 2
NM_030803.7	NP_110430.5	autophagy-related protein 1月16日 isoform 1
NM_198890.3	NP_942593.2	autophagy-related protein 1月16日 isoform 3

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 GTPase binding	IPI IPI: 通过物理相互作用推断	25891078	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	20562859	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20562859	GOA
enables protein-membrane adaptor activity	IMP IMP: 通过突变表型推断	30778222	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in C-terminal protein lipidation	IDA IDA: 通过直接分析推断	33586810	GOA
involved in autophagosome assembly	IMP IMP: 通过突变表型推断	30778222	GOA
involved in macroautophagy	IDA IDA: 通过直接分析推断	29317426	GOA
involved in microautophagy	IDA IDA: 通过直接分析推断	29317426	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Atg12-Atg5-Atg16 complex	IDA IDA: 通过直接分析推断	29317426	GOA
part of Atg12-Atg5-Atg16 complex	IPI IPI: 通过物理相互作用推断	23202584	GOA
is active in autophagosome membrane	IDA IDA: 通过直接分析推断	29317426	GOA
is active in endolysosome membrane	IDA IDA: 通过直接分析推断	29317426	GOA
located in vacuole-isolation membrane contact site	IDA IDA: 通过直接分析推断	28890335	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

ATG16L1 蛋白结构

ATG16

WD40

0
100
200
300
400
500
607 a.a.

蛋白主名

其他名称

autophagy-related protein 16-1

APG16L beta

ATG16L1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	ATG16L1	Q676U5	ATG5	Homo sapiens	Q9H1Y0	Anti Tag CoIP	23392225
种属内	ATG16L1	Q676U5	ATG5	Homo sapiens	Q9H1Y0	Anti Tag CoIP	20562859
种属内	ATG16L1	Q676U5	ATG5	Homo sapiens	Q9H1Y0	Anti Tag CoIP	33961781
种属内	ATG16L1	Q676U5	RB1CC1	Homo sapiens	Q8TDY2	Anti Tag CoIP	23392225
种属内	ATG16L1	Q676U5	MAP1LC3C	Homo sapiens	Q9BXW4	Pull Down	20562859
种属内	ATG16L1	Q676U5	RAB33B	Homo sapiens	Q9H082	Validated Y2H	32296183
种属内	ATG16L1	Q676U5	MAP1LC3B	Homo sapiens	Q9GZQ8	Pull Down	20562859
种属内	ATG16L1	Q676U5	ATG12	Homo sapiens	O94817	Anti Tag CoIP	33961781
种属内	ATG16L1	Q676U5	TMEM59	Homo sapiens	Q9BXS4	Pull Down	23376921
种属内	ATG16L1	Q676U5	GABARAPL2	Homo sapiens	P60520	Pull Down	20562859

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Inflammatory Bowel Disease 10

Inflammatory Bowel Disease 10	IBD10
Inflammatory Bowel Disease 10, Susceptibility To	Bowel Disease, Inflammatory, Type 10

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Colitis

Ulcerative Colitis

Colitis Gravis	Left Sided Ulcerative Colitis
Left-Sided Ulcerative Colitis	Idiopathic Proctocolitis
Inflammatory Bowel Disease, Ulcerative Colitis Type	Uc
Colitis Ulcerative	Colitis, Ulcerative
Chronic Left-Sided Ulcerative Colitis	Uc - [Ulcerative Colitis]
Chronic Ulcerative Enteritis	Mucosal Proctocolitis
Ulcerative Mucosal Proctocolitis	Left Hemicolitis

Inflammatory Bowel Disease 5

IBD5

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Inflammatory Bowel Disease 1

Inflammatory Bowel Disease 1	IBD1
Crohn Disease-Associated Growth Failure	Crohn Disease
Regional Enteritis	Ulcerative Colitis
Crohn Disease-Associated Growth Failure, Susceptibility To	Inflammatory Bowel Disease 1, Crohn Disease
Bowel Disease, Inflammatory, Type 1

Crohn'S Colitis

Crohn Disease

Inflammatory Bowel Disease 6

IBD6

Ileocolitis

Iieocolitis

Inflammatory Bowel Disease 9

IBD9

Crohn'S Disease

Crohn Disease	Pediatric Crohn'S Disease
Regional Enteritis	Crohn'S Disease Of Large Bowel
Granulomatous Colitis	Enteritis, Granulomatous
Enteritis	Crohn'S Disease Of Colon
Colitis, Granulomatous	Crohn'S Enteritis
Enteritis, Regional	Ileitis
Adenoviral Enteritis	Acute Gastroenteropathy Due To Norwalk Agent
Viral Gastroenteritis Due To Norwalk Agent	Winter Vomiting
Epidemic Winter Vomiting Disease	Small Round Structured Virus Enteritis
Epidemic Vomiting Syndrome	Epidemic Vomiting
Epidemic Nausea	Epidemic Viral Gastroenteritis Due To Norwalk Virus
Noroviral Enteritis	Crohn Disease Nos
Crohns	Cd - [Crohn'S Disease]
Regional Enteritis Of Bowel	Crohn'S Regional Enteritis
Cobble-Stone Appearance Of Intestine	Intestinal Ulcer And Erosion Due To Crohn Disease
Granulomatous Enteritis

Ileitis

Crohn'S Ileitis

Salmonellosis

Salmonella Infections

Salmonella Infection

Autoimmune Disease Of Gastrointestinal Tract

Inflammatory Bowel Disease 18

IBD18

Celiac Disease 1

Celiac Disease	Coeliac Disease
Celiac Sprue	Celiac Disease, Susceptibility To
Gluten-Sensitive Enteropathy	Nontropical Sprue
Sprue	CELIAC1
Celiac Disease, Susceptibility To, 1	Celiac Sprue 1
Celiac Sprue, Susceptibility To, 1	Gluten-Sensitive Enteropathy 1
Gluten-Sensitive Enteropathy, Susceptibility To, 1	Idiopathic Steatorrhea
Cœliac Disease	Gluten Intolerance
Gluten-Induced Enteropathy	Gluten Enteropathy
Celiac Disease, Susceptibility To, Type 1	Childhood Celiac Disease
Coeliac Rickets	Gee Disease
Gee-Herter Disease	Heubner-Herter Disease
Idiopathic Steatorrhoea	Thaysen'S Disease
Herter Gee Syndrome

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

目录号	产品名	作用方式	纯度	是否罕见病
HY-100008	Peretinoin		99.79%	是

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01143	ATG16L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	ATG16L1	VGNC	VGNC:70108
Felis catus	ATG16L1	VGNC	VGNC:59998
Bos taurus	ATG16L1	VGNC	VGNC:26253
Mus musculus	ATG16L1	MGD	MGI:1924290
Rattus norvegicus	ATG16L1	RGD	RGD:1310631
Canis familiaris	ATG16L1	VGNC	VGNC:38219
Others	ATG16L1	NCBI

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