AP3B1 - adaptor related protein complex 3 subunit beta 1 Gene

中文名称：适配器相关蛋白复合物 3 亚基 beta 1

种属: Homo sapiens

同用名: PE; HPS; HPS2; ADTB3; ADTB3A

基因 ID: 8546 | 基因类型: protein coding

关于 AP3B1

Cytogenetic location: 5q14.1 Genomic coordinates (GRCh38): 5:78,000,522-78,294,698 (from NCBI)

This gene has 29 transcripts (splice variants), 226 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 10.7), colon (RPKM 8.6) and 25 other tissues.

功能概要

该基因编码的蛋白质可能在与黑素体、血小板致密颗粒和溶酶体相关的细胞器生物发生中发挥作用。编码的蛋白质是异四聚体 AP-3 蛋白复合物的一部分，它与支架蛋白网格蛋白相互作用。该基因的突变与 2 型 Hermansky-Pudlak 综合征相关。已发现该基因的两种转录本变体编码不同的亚型。[RefSeq 提供，2012 年 11 月]

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

AP3B1 基因产物(3)

mRNA	Protein	Name
NM_001271769.2	NP_001258698.1	AP-3 complex subunit beta-1 isoform 2
NM_001410752.1	NP_001397681.1	AP-3 complex subunit beta-1 isoform 3
NM_003664.5	NP_003655.3	AP-3 complex subunit beta-1 isoform 1

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 GTP-dependent protein binding	IPI IPI: 通过物理相互作用推断	22511774	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	19934039	GOA
enables protein phosphatase binding	IPI IPI: 通过物理相互作用推断	17622474	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in melanosome organization	IMP IMP: 通过突变表型推断	11452004	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

AP3B1 蛋白结构

Adaptin_N

SEEEED

AP3B1_C

0
200
400
600
800
1000
1094 a.a.

蛋白主名

其他名称

AP-3 complex subunit beta-1

AP-3 complex beta-3A subunit

AP3B1 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	AP3B1	O00203	ALS2	Homo sapiens	A0A0S2Z5Q7	Y2H Array	32814053
种属内	AP3B1	O00203	ALS2	Homo sapiens	A0A0S2Z5Q7	Validated Y2H	32814053
种属内	AP3B1	O00203	ALS2	Homo sapiens	A0A0S2Z5Q7	Y2H Pooling	32814053
种属内	AP3B1	O00203	HTT	Homo sapiens	P42858	Validated Y2H	32814053
种属内	AP3B1	O00203	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
种属内	AP3B1	O00203	HTT	Homo sapiens	P42858	Y2H Array	32814053
种属内	AP3B1	O00203	SNCA	Homo sapiens	P37840	Validated Y2H	32814053
种属内	AP3B1	O00203	SNCA	Homo sapiens	P37840	Y2H Pooling	32814053
种属内	AP3B1	O00203	SNCA	Homo sapiens	P37840	Y2H Array	32814053

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

Hermansky-Pudlak Syndrome 2

HPS2	Hermansky Pudlak Syndrome 2
Platelet Defects And Oculocutaneous Albinism	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 2
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermansky-Pudlak Syndrome Due To Ap-3 Deficiency

Hermansky-Pudlak Syndrome With Neutropenia

Autoinflammatory Syndrome

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Oculocutaneous Albinism

Albinism, Oculocutaneous	Oca
Albinism Oculocutaneous	Oca - [Oculocutaneous Albinism]

Hermansky-Pudlak Syndrome 1

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells	HPS1
Delta Storage Pool Disease	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Hermansky-Pudlak Syndrome, Type 1	Platelet Storage Pool Deficiency

Griscelli Syndrome

Chediak-Higashi-Like Syndrome	Griscelli-Prunieras Syndrome
Partial Albinism-Immunodeficiency Syndrome	Griscelli Disease
Gs	Hypopigmentation Immunodeficiency Disease
Partial Albinism With Immunodeficiency	Immunodeficiency Syndrome With Hypopigmentation
Hypopigmentation-Immunodeficiency Disease

Lymphoproliferative Syndrome, X-Linked, 2

XLP2	Xiap Deficiency
X-Linked Lymphoproliferative Syndrome 2	X-Linked Lymphoproliferative Disease Due To Xiap Deficiency
Xiap-Related Lymphoproliferative Disease, X-Linked	X-Linked Lymphoproliferative Syndrome Type 2
Xiap Deficiency Syndrome

Griscelli Syndrome, Type 2

Griscelli Syndrome Type 2	GS2
Griscelli Syndrome With Hemophagocytic Syndrome	Partial Albinism And Immunodeficiency Syndrome
Paid Syndrome	Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome
Griscelli-Prunieras Syndrome Type 2	Griscelli-Pruniéras Syndrome Type 2
Griscelli Syndrome 2

Hereditary Alpha Tryptasemia Syndrome

Storage Pool Platelet Disease

Platelet Storage Pool Deficiency	Storage Pool Disease Of Platelets
Dense Body Defect	Platelet Dense Granule Deficiency
Platelet Storage Pool Defect	Platelet Storage Pool Diseases
Alpha Delta Granule Deficiency	Alpha Dense Granule Deficiency
Combined Alpha-Delta Platelet Storage Pool Deficiency

Familial Hemophagocytic Lymphohistiocytosis 5

Fhl5	Hlh5
Hplh5	Lymphohistiocytosis, Hemophagocytic, Familial, Type 5

Chediak-Higashi Syndrome

CHS	Chédiak-Higashi Syndrome
Chediak - Steinbrinck Anomaly	Chediak Higashi Syndrome
Chediak-Steinbrinck-Higashi Syndrome	Oculocutaneous Albinism With Leukocyte Defect
Chediak-Higashi Disease	Chediak-Higashi-Steinbrink Syndrome

Cyclic Neutropenia

Cyclic Hematopoiesis	Cyclical Neutropenia
Neutropenia Cyclic	Cyclic Hematopoesis
Neutropenia, Cyclic	Cyclic Agranulocytosis
Neutropenia, Periodic	Cyclic Leucopenia
Periodic Neutropenia	Cyclic Haematopoiesis
CH	Hematopoiesis, Cyclic
Neutropenia, Cyclical

Hemophagocytic Lymphohistiocytosis

Lymphohistiocytosis, Hemophagocytic	Haemophagocytic Syndrome
Lymphohistiocytosis Hemophagocytic	Hemophagocytic Syndrome
Familial Hemophagocytic Lymphocytosis	Histiocytoses Of Mononuclear Phagocytes
Haemophagocytic Lymphohistiocytosis Nos

Night Blindness

Nyctalopia

Lymphoproliferative Syndrome, X-Linked, 1

Lymphomatoid Papulosis	Duncan Disease
Purtilo Syndrome	X-Linked Lymphoproliferative Syndrome
Xlp	X-Linked Lymphoproliferative Disease
XLP1	Lyp
Lymphoproliferative Disease, X-Linked	Xlpd
X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency	Ebv Infection, Severe, Susceptibility To
Ebvs	Immunodeficiency 5
Imd5	X-Linked Lymphoproliferative Syndrome 1
Epstein-Barr Virus Infection, Familial Fatal	Ebv Infection, Severe
Infectious Mononucleosis, Severe	Infectious Mononucleosis, Severe, Susceptibility To
Immunodeficiency, X-Linked Progressive Combined Variable	Epstein Barr Virus Infection, Familial Fatal
X-Linked Progressive Combined Variable Immunodeficiency 5	Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males
Familial Fatal Epstein-Barr Infection	Severe Susceptibility To Ebv Infection
Severe Susceptibility To Infectious Mononucleosis	Sap Deficiency
Sh2d1a/Slam-Associated Protein Deficiency	X-Linked Lymphoproliferative Syndrome Type 1
X-Linked Progressive Combined Variable Immunodeficiency	Lymphoproliferative Syndrome, X-Linked
Sap	X-Linked Lymphoproliferative Disorder

Lymphoproliferative Syndrome 2

Cd27 Deficiency	LPFS2
Combined Immunodeficiency Due To Cd27 Deficiency	Autosomal Recessive Lymphoproliferative Disease Due To Cd27 Deficiency

Severe Congenital Neutropenia

Congenital Neutropenia	Neutropenia, Severe Congenital
Congenital Agranulocytosis	Infantile Genetic Agranulocytosis
Kostmann Disease	Kostmann'S Agranulocytosis
Kostmann'S Syndrome	Severe Infantile Genetic Neutropenia

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-RS00789	AP3B1 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	AP3B1	MGD	MGI:1333879
Macaca mulatta	AP3B1	VGNC	VGNC:69967
Felis catus	AP3B1	VGNC	VGNC:102160
Canis familiaris	AP3B1	VGNC	VGNC:37963
Rattus norvegicus	AP3B1	RGD	RGD:1310256
Bos taurus	AP3B1	VGNC	VGNC:25987

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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

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）

AP3B1 - adaptor related protein complex 3 subunit beta 1 Gene

关于 AP3B1

功能概要

AP3B1 基因产物(3)

AP3B1 蛋白结构

AP3B1 蛋白互作信息

关联疾病

直系同源

热门区域

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AP3B1 - adaptor related protein complex 3 subunit beta 1 Gene

关于 AP3B1

功能概要

AP3B1 基因产物(3)

AP3B1 蛋白结构

AP3B1 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