AP2S1 - adaptor related protein complex 2 subunit sigma 1 Gene

中文名称：适配器相关蛋白复合物 2 亚基西格玛 1

种属: Homo sapiens

同用名: AP17; FBH3; HHC3; FBHOk; CLAPS2

基因 ID: 1175 | 基因类型: protein coding

关于 AP2S1

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:46,838,167-46,850,846 (from NCBI)

This gene has 10 transcripts (splice variants), 205 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 25.3), brain (RPKM 23.2) and 25 other tissues.

功能概要

两个主要的网格蛋白相关接头复合物之一 AP-2 是与质膜相关的异四聚体。这个复合体由两条大链、一条中链和一条小链组成。该基因编码该复合物的小链。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

AP2S1 基因产物(5)

mRNA	Protein	Name
NM_001301076.3	NP_001288005.1	AP-2 complex subunit sigma isoform 3
NM_001301078.3	NP_001288007.1	AP-2 complex subunit sigma isoform 4
NM_001301081.3	NP_001288010.1	AP-2 complex subunit sigma isoform 5
NM_004069.6	NP_004060.2	AP-2 complex subunit sigma isoform AP17
NM_021575.5	NP_067586.1	AP-2 complex subunit sigma isoform AP17delta

基因本体论

分子功能
生物过程

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	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
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

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

AP2S1 蛋白结构

Clat_adaptor_s

0
100
142 a.a.

蛋白主名

其他名称

AP-2 complex subunit sigma

HA2 17 kDa subunit

AP2S1 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	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Y2H Array	25416956
种属内	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Anti Tag CoIP	35271311
种属内	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Y2H Array	32296183
种属内	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Validated Y2H	32296183
种属内	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Anti Tag CoIP	33961781
种属内	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Anti Tag CoIP	28514442
种属内	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Y2H Prey Pooling	32296183

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

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

Hypocalciuric Hypercalcemia, Familial, Type I

HHC1	Familial Hypocalciuric Hypercalcemia 1
Fhh1	Familial Benign Hypercalcemia 1
Fbh1	Hypocalciuric Hypercalcemia, Type I
Fhh Type 1	Hhc
Fhh	Hypercalcemia, Familial Benign
Hypocalciuric Hypercalcemia Type I	Familial Hypocalciuric Hypercalcemia Type 1
Hypocalciuric Hypercalcemia, Familial, Type 1	Familial Hypocalciuric Hypercalcemia Type I
Familial Benign Hypercalcemia Type 1	Hypercalcemia, Familial Benign Type 1
Hypocalciuric Hypercalcemia, Familial 1	Familial Benign Hypocalciuric Hypercalcemia 1
Fbhh1

Hypocalciuric Hypercalcemia, Familial, Type Ii

HHC2	Familial Hypocalciuric Hypercalcemia 2
Fbh2	Familial Hypocalciuric Hypercalcemia Type 2
Hypocalciuric Hypercalcemia, Type Ii	Fhh Type 2
Familial Benign Hypercalcemia, Type Ii	Hypercalcemia, Familial Benign, Type Ii
Hypocalciuric Hypercalcemia Type Ii	Familial Benign Hypercalcemia, Type 2
Hypercalcemia, Familial Benign Type 2	Hypocalciuric Hypercalcemia, Familial, Type 2
Hypocalciuric Hypercalcemia, Familial 2	Familial Benign Hypercalcemia Type Ii
Hypocalciuric Hypercalcemia-2

Familial Hypocalciuric Hypercalcemia

Familial Benign Hypercalcemia	Fbh
Fbhh	Fhh
Familial Benign Hypocalciuric Hypercalcemia	Hypocalciuric Hypercalcemia, Familial, Type 1

Chondrocalcinosis

Pseudogout	Calcium Pyrophosphate Deposition Disease
Familial Chondrocalcinosis	Chondrocalcinosis Nos
Cppd - [Calcium Pyrophosphate Deposition Disease]	Cpdd - [Calcium Pyrophosphate Deposition Disease]
Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site	Chondrocalcinosis, Cause Unspecified
Chondrocalcinosis Due To Pyrophosphate Crystals	Chondrocalcinosis Articularis
Calcium Pyrophosphate Arthritis And Periarthritis

Hypoparathyroidism

Hypoparathyroidism, Idiopathic	Parathyroid, Underactivity Of
Syndrome With Hypoparathyroidism	Deficiency Of Parathyroid Hormone
Parathyroid Gland Insufficiency	Parathyroid Insufficiency
Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Osteitis Fibrosa

Osteitis Fibrosa Cystica	Hyperparathyroid Bone Disease
Osteitis Fibrosa Cystica Generalisata	Von Recklinghausen'S Bone Disease
Osteitis Fibrosa Disseminata

Multiple Endocrine Neoplasia, Type Iv

Multiple Endocrine Neoplasia Type 4	MEN4
Multiple Endocrine Neoplasia 4	Neoplasia, Endocrine, Multiple, Type Iv

Parathyroid Gland Disease

Parathyroid Diseases	Disease Of Parathyroid Glands
Parathyroid Disease

Parathyroid Adenoma

Adenoma Of Parathyroid	Adenoma Of The Parathyroid Gland
Parathyroid Gland Adenoma

Familial Isolated Hypoparathyroidism

Fih

Primary Hyperparathyroidism

Familial Primary Hyperparathyroidism	Hyperparathyroidism, Primary
Hyperparathyroidism Primary	Hypocalciuric Hypercalcemia, Familial, Type 1
Familial Benign Hypercalcemia	Familial Hyperparathyroidism
Parathyroid Enlargement

Mineral Metabolism Disease

Mineral Metabolism Disorder

Disorder Of Mineral Metabolism

Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1	MEN1
Wermer Syndrome	Multiple Endocrine Neoplasia 1
Multiple Endocrine Neoplasia, Type 1	Men I
Endocrine Adenomatosis, Multiple	Mea I
Men Type I	Wermer'S Syndrome
Men1 Syndrome	Multiple Endocrine Adenomatosis
Endocrine Adenomatosis Multiple	Men 1
Familial Multiple Endocrine Neoplasia Type I	Neoplasia, Endocrine, Multiple, Type 1
Multiple Endocrine Neoplasia

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-RS00788	AP2S1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	AP2S1	VGNC	VGNC:97353
Mus musculus	AP2S1	MGD	MGI:2141861
Canis familiaris	AP2S1	VGNC	VGNC:37962
Macaca mulatta	AP2S1	VGNC	VGNC:69966
Rattus norvegicus	AP2S1	RGD	RGD:620188
Bos taurus	AP2S1	VGNC	VGNC:25986

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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

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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）

AP2S1 - adaptor related protein complex 2 subunit sigma 1 Gene

关于 AP2S1

功能概要

AP2S1 基因产物(5)

AP2S1 蛋白结构

AP2S1 蛋白互作信息

关联疾病

直系同源

热门区域

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AP2S1 - adaptor related protein complex 2 subunit sigma 1 Gene

关于 AP2S1

功能概要

AP2S1 基因产物(5)

AP2S1 蛋白结构

AP2S1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z