• Gene id: 26985

Gene Summary

• Gene Symbol: AP3M1   Gene   UCSC   Ensembl
• Gene name: adaptor related protein complex 3 subunit mu 1
• Alternate names: AP-3 complex subunit mu-1, AP-3 adapter complex mu3A subunit, adapter-related protein complex 3 mu-1 subunit, adaptor related protein complex 3 mu 1 subunit, clathrin adaptor complex AP3, mu-3A subunit, mu-adaptin 3A, mu3A-adaptin,
• Gene location: 10q22.2 (74151066: 74120011)     Exons: 11     NC_000010.11
• Gene summary(Entrez): 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 membr
• OMIM: 610366

Protein Summary

• Protein general information: Q9Y2T2  
  • Name: AP 3 complex subunit mu 1 (AP 3 adaptor complex mu3A subunit) (Adaptor related protein complex 3 subunit mu 1) (Mu adaptin 3A) (Mu3A adaptin)
  • Length: 418  
  • Mass: 46939
• Sequence:

  MIHSLFLINCSGDIFLEKHWKSVVSQSVCDYFFEAQEKAADVENVPPVISTPHHYLISIYRDKLFFVSVIQTEVP
  PLFVIEFLHRVADTFQDYFGECSEAAIKDNVVIVYELLEEMLDNGFPLATESNILKELIKPPTILRSVVNSITGS
  SNVGDTLPTGQLSNIPWRRAGVKYTNNEAYFDVVEEIDAIIDKSGSTVFAEIQGVIDACIKLSGMPDLSLSFMNP
  RLLDDVSFHPCIRFKRWESERVLSFIPPDGNFRLISYRVSSQNLVAIPVYVKHSISFKENSSCGRFDITIGPKQN
  MGKTIEGITVTVHMPKVVLNMNLTPTQGSYTFDPVTKVLTWDVGKITPQKLPSLKGLVNLQSGAPKPEENPSLNI
  QFKIQQLAISGLKVNRLDMYGEKYKPFKGVKYVTKAGKFQVRT

• Structural information:
  • Protein Domains: (176..41-)
    (/note="MHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00404"-)
  • Interpro: IPR036168  IPR022775  IPR001392  IPR018240  IPR011012   IPR028565  
  • Prosite: PS00990 PS00991 PS51072
  • STRING: ENSP00000347408
• Other Databases: GeneCards:  AP3M1  Malacards:  AP3M1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0048490	anterograde synaptic vesicle transport	ISS	biological process
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0030131	clathrin adaptor complex	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0006622	protein targeting to lysosome	TAS	biological process
GO:0005764	lysosome	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048490	anterograde synaptic vesicle transport	IEA	biological process
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)