• Gene id: 8546

Gene Summary

• Gene Symbol: AP3B1   Gene   UCSC   Ensembl
• Aliases: ADTB3, ADTB3A, HPS, HPS2, PE
• Gene name: adaptor related protein complex 3 subunit beta 1
• Alternate names: AP-3 complex subunit beta-1, AP-3 complex beta-3A subunit, adaptor protein complex AP-3 subunit beta-1, adaptor related protein complex 3 beta 1 subunit, beta-3A-adaptin, clathrin assembly protein complex 3 beta-1 large chain,
• Gene location: 5q14.1 (78294703: 78000521)     Exons: 29     NC_000005.10
• Gene summary(Entrez): This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding pro
• OMIM: 603401

SNPs

rs3000811

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.227400755G>A
NC_000001.11   g.227400755G>C
NC_000001.10   g.227588456G>A
NC_000001.10   g.227588456G>C|SEQ=[G/A/C]|GENE=LINC01641

Protein Summary

• Protein general information: O00203  
  • Name: AP 3 complex subunit beta 1 (Adaptor protein complex AP 3 subunit beta 1) (Adaptor related protein complex 3 subunit beta 1) (Beta 3A adaptin) (Clathrin assembly protein complex 3 beta 1 large chain)
  • Length: 1094  
  • Mass: 121320
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKN
  ASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPI
  MMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKN
  YRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLL
  IRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSF
  YVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLL
  SNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSF
  TSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLA
  QKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKF
  YSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKS
  DSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFN
  PVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMV
  SIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNI
  QPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRFAAKTV
  HSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG

• Structural information:
  • Interpro: IPR026740  IPR029394  IPR029390  IPR026739  IPR016024   IPR015151  IPR002553  
  • DIP: 24208
  • STRING: ENSP00000255194
• Other Databases: GeneCards:  AP3B1  Malacards:  AP3B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030742	GTP-dependent protein binding	IPI	molecular function
GO:0030742	GTP-dependent protein binding	IPI	molecular function
GO:0032438	melanosome organization	IMP	biological process
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0048490	anterograde synaptic vesicle transport	IBA	biological process
GO:0048490	anterograde synaptic vesicle transport	ISS	biological process
GO:0032438	melanosome organization	IMP	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:0030117	membrane coat	IEA	cellular component
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:0005794	Golgi apparatus	TAS	cellular component
GO:0006886	intracellular protein transport	TAS	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0003016	respiratory system process	IEA	biological process
GO:0007040	lysosome organization	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0016182	synaptic vesicle budding from endosome	IEA	biological process
GO:0019882	antigen processing and presentation	IEA	biological process
GO:0051138	positive regulation of NK T cell differentiation	IEA	biological process
GO:0060155	platelet dense granule organization	IEA	biological process
GO:0061024	membrane organization	IEA	biological process
GO:0090152	establishment of protein localization to mitochondrial membrane involved in mitochondrial fission	IEA	biological process
GO:0006622	protein targeting to lysosome	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0032438	melanosome organization	IEA	biological process
GO:0034394	protein localization to cell surface	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0048007	antigen processing and presentation, exogenous lipid antigen via MHC class Ib	IEA	biological process
GO:0048490	anterograde synaptic vesicle transport	IEA	biological process
GO:0060425	lung morphogenesis	IEA	biological process
GO:0098773	skin epidermis development	IEA	biological process
GO:0030665	clathrin-coated 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:1904115	axon cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0019903	protein phosphatase binding	IPI	molecular function
GO:0005765	lysosomal 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
neutropenia	PMID:12125811
Interstitial lung disease	PMID:22009278
Hermansky-Pudlak syndrome	PMID:12125811
Pulmonary fibrosis	PMID:12125811
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq