AP3M1 - adaptor related protein complex 3 subunit mu 1 Gene

Homo sapiens

Gene ID: 26985 | Gene type: protein coding

About AP3M1

Cytogenetic location: 10q22.2 Genomic coordinates (GRCh38): 10:74,120,255-74,150,828 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues and 7 paralogues. Ubiquitous expression in placenta (RPKM 10.7), thyroid (RPKM 10.7) and 25 other tissues.

Summary

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]

AP3M1 Products(5)

mRNA	Protein	Name
NM_001320263.2	NP_001307192.1	AP-3 complex subunit mu-1 isoform a
NM_001320264.2	NP_001307193.1	AP-3 complex subunit mu-1 isoform a
NM_001320265.2	NP_001307194.1	AP-3 complex subunit mu-1 isoform b
NM_012095.6	NP_036227.1	AP-3 complex subunit mu-1 isoform a
NM_207012.4	NP_996895.1	AP-3 complex subunit mu-1 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19116314	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	22511774	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

AP3M1 Protein Structure

Clat_adaptor_s

Adap_comp_sub

0
100
200
300
418 a.a.

Protein Preferred Names

Protein Names

AP-3 complex subunit mu-1

AP-3 adapter complex mu3A subunit

Related Diseases

Diseases

Alias

Hermansky-Pudlak Syndrome

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

Ulceroglandular Tularemia

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

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-RS00792	AP3M1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AP3M1	VGNC	VGNC:69970
Mus musculus	AP3M1	MGD	MGI:1929212
Canis familiaris	AP3M1	VGNC	VGNC:37966
Bos taurus	AP3M1	VGNC	VGNC:25989
Rattus norvegicus	AP3M1	RGD	RGD:620417
Felis catus	AP3M1	VGNC	VGNC:67728

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