AP3B1 - adaptor related protein complex 3 subunit beta 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8546

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	References	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	References	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

AP3B1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AP3B1	O00203	ALS2	Homo sapiens	A0A0S2Z5Q7	Y2H Array	32814053
Intra	AP3B1	O00203	ALS2	Homo sapiens	A0A0S2Z5Q7	Validated Y2H	32814053
Intra	AP3B1	O00203	ALS2	Homo sapiens	A0A0S2Z5Q7	Y2H Pooling	32814053
Intra	AP3B1	O00203	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	AP3B1	O00203	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	AP3B1	O00203	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	AP3B1	O00203	SNCA	Homo sapiens	P37840	Validated Y2H	32814053
Intra	AP3B1	O00203	SNCA	Homo sapiens	P37840	Y2H Pooling	32814053
Intra	AP3B1	O00203	SNCA	Homo sapiens	P37840	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	AP3B1	NCBI