AP3B1 - adaptor related protein complex 3 subunit beta 1 Gene

Homo sapiens

Also known as PE; HPS; HPS2; ADTB3; ADTB3A

Gene ID: 8546 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTP-dependent protein binding	IPI IPI: Inferred from physical interaction	22511774	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19934039	GOA
enables protein phosphatase binding	IPI IPI: Inferred from physical interaction	17622474	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in melanosome organization	IMP IMP: Inferred from mutant phenotype	11452004	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP3B1 Protein Structure

Adaptin_N

SEEEED

AP3B1_C

0
200
400
600
800
1000
1094 a.a.

Protein Preferred Names

Protein Names

AP-3 complex subunit beta-1

AP-3 complex beta-3A subunit

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00789	AP3B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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