AP2M1 - adaptor related protein complex 2 subunit mu 1 Gene

中文名称：适配器相关蛋白复合物 2 亚基 mu 1

种属: Homo sapiens

同用名: mu2; AP50; MRD60; CLAPM1

基因 ID: 1173 | 基因类型: protein coding

关于 AP2M1

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:184,174,855-184,184,091 (from NCBI)

This gene has 34 transcripts (splice variants), 241 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 196.0), adrenal (RPKM 156.4) and 25 other tissues.

功能概要

该基因编码异四聚体外壳组装蛋白复合物 2 (AP2) 的一个亚基，它属于衔接复合物中等亚基家族。编码的蛋白质是液泡 ATP 酶活性所必需的，它负责在内体和溶酶体酸化过程中发生的质子泵送。编码的蛋白质也可能在调节 CTLA-4 蛋白的细胞内运输和功能中发挥重要作用。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供，2015 年 7 月]

This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

AP2M1 基因产物(3)

mRNA	Protein	Name
NM_001025205.2	NP_001020376.1	AP-2 complex subunit mu isoform b
NM_001311198.2	NP_001298127.1	AP-2 complex subunit mu isoform c
NM_004068.4	NP_004059.2	AP-2 complex subunit mu 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 protein binding	IPI IPI: 通过物理相互作用推断	12032142	GOA
enables signal sequence binding	IDA IDA: 通过直接分析推断	8918456	GOA
enables transmembrane transporter binding	IPI IPI: 通过物理相互作用推断	23529131	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in clathrin-dependent endocytosis	IDA IDA: 通过直接分析推断	23676497	GOA
involved in negative regulation of protein localization to plasma membrane	IMP IMP: 通过突变表型推断	19581412	GOA
involved in receptor internalization	IMP IMP: 通过突变表型推断	25898166	GOA
involved in regulation of vesicle size	IMP IMP: 通过突变表型推断	25898166	GOA
involved in synaptic vesicle endocytosis	IDA IDA: 通过直接分析推断	11102472	GOA
involved in synaptic vesicle endocytosis	IMP IMP: 通过突变表型推断	11102472	GOA
involved in vesicle budding from membrane	IMP IMP: 通过突变表型推断	25898166	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of AP-2 adaptor complex	IDA IDA: 通过直接分析推断	23676497	GOA
located in clathrin-coated pit	IDA IDA: 通过直接分析推断	31104773	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

AP2M1 蛋白结构

Clat_adaptor_s

Adap_comp_sub

0
100
200
300
400
435 a.a.

蛋白主名

其他名称

AP-2 complex subunit mu

AP-2 mu 2 chain

AP2M1 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	AP2M1	Q96CW1	TMA16	Homo sapiens	Q96EY4	Validated Y2H	32296183
种属内	AP2M1	Q96CW1	H2BC13	Homo sapiens	Q99880	Validated Y2H	32296183
种属内	AP2M1	Q96CW1	NAA11	Homo sapiens	Q9BSU3	Validated Y2H	32296183
种属内	AP2M1	Q96CW1	PRPF18	Homo sapiens	Q99633	Validated Y2H	32296183
种属内	AP2M1	Q96CW1	EGFR	Homo sapiens	P00533	Ub Reconstruction	20029029
种属内	AP2M1	Q96CW1	EGFR	Homo sapiens	P00533	TAP	24189400
种属内	AP2M1	Q96CW1	EGFR	Homo sapiens	P00533	FPS	37100772
种属内	AP2M1	Q96CW1	AP2B1	Homo sapiens	P63010	Anti Tag CoIP	33961781
种属内	AP2M1	Q96CW1	AP2B1	Homo sapiens	P63010	Crosslink	30021884
种属内	AP2M1	Q96CW1	AP2B1	Homo sapiens	P63010	TAP	24189400
种属内	AP2M1	Q96CW1	HEXIM2	Homo sapiens	Q96MH2	Validated Y2H	32296183
种属内	AP2M1	Q96CW1	FXR1	Homo sapiens	P51114	Y2H Pooling	21653829
种属内	AP2M1	Q96CW1	FXR1	Homo sapiens	P51114	Anti Tag CoIP	21653829
种属内	AP2M1	Q96CW1	ATG9A	Homo sapiens	Q7Z3C6	Phage Display	37219487
种属内	AP2M1	Q96CW1	ATG9A	Homo sapiens	Q7Z3C6	FPS	37100772
种属内	AP2M1	Q96CW1	ATG9A	Homo sapiens	Q7Z3C6	FPS	34799561
种属内	AP2M1	Q96CW1	ATG9A	Homo sapiens	Q7Z3C6	FPS	37219487
种属内	AP2M1	Q96CW1	PRR13	Homo sapiens	Q9NZ81	Validated Y2H	32296183
种属内	AP2M1	Q96CW1	TBC1D5	Homo sapiens	Q92609	Pull Down	24603492
种属内	AP2M1	Q96CW1	TBC1D5	Homo sapiens	Q92609	Y2H Array	31515488
种属内	AP2M1	Q96CW1	TBC1D5	Homo sapiens	Q92609	Y2H Pooling	16189514
种属内	AP2M1	Q96CW1	MMTAG2	Homo sapiens	Q9BU76	Validated Y2H	32296183
种属内	AP2M1	Q96CW1	ZNF581	Homo sapiens	Q9P0T4	Validated Y2H	32296183
种属内	AP2M1	Q96CW1	RUNDC3A	Homo sapiens	Q59EK9	Y2H Pooling	16189514
种属内	AP2M1	Q96CW1	UTP25	Homo sapiens	Q68CQ4	Anti Tag CoIP	33961781
种属内	AP2M1	Q96CW1	RSPH14	Homo sapiens	Q9UHP6	Y2H Pooling	16189514
种属内	AP2M1	Q96CW1	RSPH14	Homo sapiens	Q9UHP6	Validated Y2H	32296183
种属内	AP2M1	Q96CW1	CLDN2	Homo sapiens	P57739	Anti Bait CoIP	34964704
种属内	AP2M1	Q96CW1	EAF1	Homo sapiens	Q96JC9	Validated Y2H	32296183
种属内	AP2M1	Q96CW1	ACE2	Homo sapiens	Q9BYF1	FPS	33436498
种属间	AP2M1	Q96CW1	N	Mumps virus	Q77IS8	Phage Display	37100772
种属间	AP2M1	Q96CW1	N	Mumps virus	Q77IS8	FPS	37100772
种属间	AP2M1	Q96CW1	P27958-PRO_0000037566	Hepatitis C virus	P27958-PRO_0000037566	Anti Bait CoIP	22916011
种属间	AP2M1	Q96CW1	P27958-PRO_0000037566	Hepatitis C virus	P27958-PRO_0000037566	SLC	22916011
种属间	AP2M1	Q96CW1	NP	Zaire ebolavirus	P18272	FPS	37100772

种属间: 跨种属相互作用 种属内: 同种属相互作用

AP2M1 抗体

目录号	产品名	应用	反应物种
HY-P82368	Phospho-AP2M1 (Thr156) Antibody (YA2113)	WB	Human
HY-P83361	AP2M1 Antibody (YA3106)	WB	Human, Mouse, Rat

关联疾病

疾病名称

别名

Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures

Intellectual Developmental Disorder 60 With Seizures	MRD60
Mental Retardation, Autosomal Dominant 60, With Seizures

Epilepsy With Myoclonic-Atonic Seizures

Myoclonic Astatic Epilepsy	Doose Syndrome
Epilepsy With Myoclonic-Astatic Seizures	Epilepsy With Myoclono-Astatic Crisis
Myoclonic-Astatic Epilepsy	Emas
Mae	Myoclonic Atonic Epilepsy
Myoclonic-Astatic Epilepsy In Early Childhood

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Hypocalciuric Hypercalcemia, Familial, Type Iii

HHC3	Familial Hypocalciuric Hypercalcemia 3
Fbh3	Familial Hypocalciuric Hypercalcemia Type 3
Hypercalcemia, Familial Benign, Oklahoma Type	Hypocalciuric Hypercalcemia, Type Iii
Fhh Type 3	Hypocalciuric Hypercalcemia Type Iii
Familial Benign Hypercalcemia, Type Iii	Hypercalcemia, Familial Benign, Type Iii
Fbhok	Familial Benign Hypercalcemia, Oklahoma Variant
Familial Benign Hypercalcemia, Type 3	Hypercalcemia, Familial Benign, Type 3
Hypocalciuric Hypercalcemia, Familial, Type 3	Hypocalciuric Hypercalcemia, Familial 3
Familial Benign Hypercalcemia 3	Familial Benign Hypercalcemia Oklahoma Type
Familial Benign Hypocalciuric Hypercalcemia 3	Fbhh3
Fhh3

Brachydactyly, Type D

Brachydactyly Type D	BDD
Stub Thumb	Brachydactyly D

Dyslexia

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To
Ahus	AHUS1
Hemolytic-Uremic Syndrome	Ahus 1
Ahus, Susceptibility To, 1	Hemolytic Uremic Syndrome, Atypical
Non-Shiga-Like Toxin-Associated Hus	Non-Stx-Hus
Nonenteropathic Hus	Atypical Hus
Shiga Toxin-Associated Hemolytic Uremic Syndrome	D+ Hus
Ehec-Hus	Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli
Hemolytic Uremic Syndrome With Diarrhea	Stec-Hus
Shiga-Like Toxin-Associated Hus	Stx-Hus
Typical Hus	Typical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies	Atypical Hus With Anti-Factor H Antibodies
Ahus With Anti-Factor H Antibodies	Ahus With Neutralizing Autoantibodies Against Factor H
Hemolytic Uremic Syndrome Atypical 1	Atypical Hemolytic Uremic Syndrome With H Factor Anomaly
D Hus	Hemolytic-Uremic Syndrome Without Diarrhea
Hemolytic-Uremic Syndrome, Atypical, Type 1	Hemolytic Uremic Syndrome, Typical

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-161261	SARS-CoV-2-IN-81	Inhibitor	/	否
HY-169405	AAK1/HDACs-IN-1	Inhibitor	/	否
HY-RS00787	AP2M1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	AP2M1	MGD	MGI:1298405
Felis catus	AP2M1	VGNC	VGNC:67726
Canis familiaris	AP2M1	VGNC	VGNC:37961
Rattus norvegicus	AP2M1	RGD	RGD:620135
Macaca mulatta	AP2M1	VGNC	VGNC:69965
Bos taurus	AP2M1	VGNC	VGNC:25985

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4