AP3M1

Protein identityUniProt · HPA

UniProt accession

Q9Y2T2

Gene

AP3M1

Ensembl

ENSG00000185009

Chromosome

10

Canonical length

418 aa

Protein class

Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

418 residues, UniProt reviewed canonical sequence.

>Q9Y2T2|AP3M1
     1  MIHSLFLINC SGDIFLEKHW KSVVSQSVCD YFFEAQEKAA DVENVPPVIS TPHHYLISIY
    61  RDKLFFVSVI QTEVPPLFVI EFLHRVADTF QDYFGECSEA AIKDNVVIVY ELLEEMLDNG
   121  FPLATESNIL KELIKPPTIL RSVVNSITGS SNVGDTLPTG QLSNIPWRRA GVKYTNNEAY
   181  FDVVEEIDAI IDKSGSTVFA EIQGVIDACI KLSGMPDLSL SFMNPRLLDD VSFHPCIRFK
   241  RWESERVLSF IPPDGNFRLI SYRVSSQNLV AIPVYVKHSI SFKENSSCGR FDITIGPKQN
   301  MGKTIEGITV TVHMPKVVLN MNLTPTQGSY TFDPVTKVLT WDVGKITPQK LPSLKGLVNL
   361  QSGAPKPEEN PSLNIQFKIQ QLAISGLKVN RLDMYGEKYK PFKGVKYVTK AGKFQVRT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AP3M1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

34 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.64

gnomAD pLI

0.03

gnomAD missense Z

1.23

DepMap mean gene effect

-0.21

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anterograde axonal transport
• anterograde synaptic vesicle transport
• clathrin-coated vesicle cargo loading, AP-3-mediated
• endocytosis
• melanosome assembly
• platelet dense granule organization
• postsynaptic neurotransmitter receptor internalization
• protein targeting to lysosome
• vesicle-mediated transport

Molecular functions

• small GTPase binding

Cellular components

• AP-3 adaptor complex
• axon cytoplasm
• clathrin adaptor complex
• cytoplasmic vesicle
• cytoplasmic vesicle membrane
• early endosome
• Golgi apparatus
• lysosomal membrane
• lysosome
• postsynaptic recycling endosome

Protein domainsUniProt · Pfam · InterPro

• Clathrin adaptor, mu subunit
• Longin-like domain superfamily
• Clathrin adaptor, mu subunit, conserved site
• AP complex, mu/sigma subunit
• Mu homology domain
• AP-2 complex subunit mu, C-terminal superfamily
• Adaptor complexes medium subunit
• Adaptor complexes medium subunit family
• Clathrin adaptor complex small chain

KeywordsUniProt

• Cytoplasmic vesicle
• Golgi apparatus
• Host-virus interaction
• Membrane
• Protein transport
• Transport

InteractionsUniProt · HPA

Protein binding partners of AP3M1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• AGAP1
• DTNBP1
• AP3B1
• AP3S1
• RSPH14
• SLC12A4