2. Gene
  3. AP3M1 - adaptor related protein complex 3 subunit mu 1 Gene

AP3M1 - adaptor related protein complex 3 subunit mu 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

AP3M1 Protein Structure

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (1 - 128)

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (165 - 418)

  • 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 / 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