• Gene id: 8943

Gene Summary

• Gene Symbol: AP3D1   Gene   UCSC   Ensembl
• Aliases: ADTD, HPS10, hBLVR
• Gene name: adaptor related protein complex 3 subunit delta 1
• Alternate names: AP-3 complex subunit delta-1, AP-3 complex delta subunit, partial CDS, adapter-related protein complex 3 subunit delta-1, adaptor related protein complex 3 delta 1 subunit, delta adaptin, subunit of putative vesicle coat adaptor complex AP-3,
• Gene location: 19p13.3 (178153959: 178149462)     Exons: 4     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the
• OMIM: 607246

Protein Summary

• Protein general information: O14617  
  • Name: AP 3 complex subunit delta 1 (AP 3 complex subunit delta) (Adaptor related protein complex 3 subunit delta 1) (Delta adaptin)
  • Length: 1153  
  • Mass: 130158
  • Tissue specificity: Present in all adult tissues examined with the highest levels in skeletal muscle, heart, pancreas and testis. {ECO
• Sequence:

  MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWA
  AFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLAND
  IMTLMSHTKPYIRKKAVLIMYKVFLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLF
  FKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSAS
  IQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLME
  IVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKA
  IRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQN
  VVKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALF
  AGELNPVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQE
  QANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKE
  KKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPIQKHRNTE
  TSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEE
  AAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNAR
  MARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLIT
  TPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGEN
  SVSVDGKCSDSTLLSNLLEEMKATLAKC

• Structural information:
  • Interpro: IPR017105  IPR011989  IPR016024  IPR002553  
  • PDB: 4AFI
  • PDBsum: 4AFI
  • DIP: 46793
  • STRING: ENSP00000347416
• Other Databases: GeneCards:  AP3D1  Malacards:  AP3D1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035646	endosome to melanosome transport	IMP	biological process
GO:0032438	melanosome organization	IC	biological process
GO:0072657	protein localization to membrane	IMP	biological process
GO:0006623	protein targeting to vacuole	IBA	biological process
GO:0016182	synaptic vesicle budding from endosome	IBA	biological process
GO:0030123	AP-3 adaptor complex	IBA	cellular component
GO:0043195	terminal bouton	IBA	cellular component
GO:0048499	synaptic vesicle membrane organization	IBA	biological process
GO:0098830	presynaptic endosome	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0006896	Golgi to vacuole transport	IBA	biological process
GO:0010008	endosome membrane	IBA	cellular component
GO:0048490	anterograde synaptic vesicle transport	IBA	biological process
GO:0098943	neurotransmitter receptor transport, postsynaptic endosome to lysosome	IBA	biological process
GO:0010008	endosome membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0048490	anterograde synaptic vesicle transport	ISS	biological process
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0030123	AP-3 adaptor complex	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	TAS	cellular component
GO:0006886	intracellular protein transport	TAS	biological process
GO:0016182	synaptic vesicle budding from endosome	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098830	presynaptic endosome	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0051138	positive regulation of NK T cell differentiation	IEA	biological process
GO:0048499	synaptic vesicle membrane organization	IEA	biological process
GO:0043195	terminal bouton	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0019882	antigen processing and presentation	IEA	biological process
GO:0016182	synaptic vesicle budding from endosome	IEA	biological process
GO:0099003	vesicle-mediated transport in synapse	IEA	biological process
GO:0098943	neurotransmitter receptor transport, postsynaptic endosome to lysosome	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0048490	anterograde synaptic vesicle transport	IEA	biological process
GO:0048007	antigen processing and presentation, exogenous lipid antigen via MHC class Ib	IEA	biological process
GO:0033365	protein localization to organelle	IEA	biological process
GO:0010008	endosome membrane	IEA	cellular component
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0061088	regulation of sequestering of zinc ion	IMP	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Hermansky-Pudlak syndrome	KEGG:H00166
Hermansky-Pudlak syndrome	KEGG:H00166
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray