• Gene id: 10717

Gene Summary

• Gene Symbol: AP4B1   Gene   UCSC   Ensembl
• Aliases: BETA-4, CPSQ5, SPG47
• Gene name: adaptor related protein complex 4 subunit beta 1
• Alternate names: AP-4 complex subunit beta-1, AP-4 adaptor complex subunit beta, adaptor related protein complex 4 beta 1 subunit, beta 4 subunit of AP-4, beta4-adaptin, spastic paraplegia 47,
• Gene location: 1p13.2 (113905066: 113894193)     Exons: 13     NC_000001.11
• Gene summary(Entrez): This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic
• OMIM: 604516

Protein Summary

• Protein general information: Q9Y6B7  
  • Name: AP 4 complex subunit beta 1 (AP 4 adaptor complex subunit beta) (Adaptor related protein complex 4 subunit beta 1) (Beta subunit of AP 4) (Beta4 adaptin)
  • Length: 739  
  • Mass: 83260
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRYMTQGLDMSGVFMEMVKASATVDIVQKKLVYLYMCTY
  APLKPDLALLAINTLCKDCSDPNPMVRGLALRSMCSLRMPGVQEYIQQPILNGLRDKASYVRRVAVLGCAKMHNL
  HGDSEVDGALVNELYSLLRDQDPIVVVNCLRSLEEILKQEGGVVINKPIAHHLLNRMSKLDQWGQAEVLNFLLRY
  QPRSEEELFDILNLLDSFLKSSSPGVVMGATKLFLILAKMFPHVQTDVLVRVKGPLLAACSSESRELCFVALCHV
  RQILHSLPGHFSSHYKKFFCSYSEPHYIKLQKVEVLCELVNDENVQQVLEELRGYCTDVSADFAQAAIFAIGGIA
  RTYTDQCVQILTELLGLRQEHITTVVVQTFRDLVWLCPQCTEAVCQALPGCEENIQDSEGKQALIWLLGVHGERI
  PNAPYVLEDFVENVKSETFPAVKMELLTALLRLFLSRPAECQDMLGRLLYYCIEEEKDMAVRDRGLFYYRLLLVG
  IDEVKRILCSPKSDPTLGLLEDPAERPVNSWASDFNTLVPVYGKAHWATISKCQGAERCDPELPKTSSFAASGPL
  IPEENKERVQELPDSGALMLVPNRQLTADYFEKTWLSLKVAHQQVLPWRGEFHPDTLQMALQVVNIQTIAMSRAG
  SRPWKAYLSAQDDTGCLFLTELLLEPGNSEMQISVKQNEARTETLNSFISVLETVIGTIEEIKS

• Structural information:
  • Interpro: IPR026739  IPR016342  IPR011989  IPR016024  IPR015151   IPR002553  IPR012295  
  • PDB: 2MJ7
  • PDBsum: 2MJ7
  • DIP: 24209
  • STRING: ENSP00000358582
• Other Databases: GeneCards:  AP4B1  Malacards:  AP4B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0006605	protein targeting	IC	biological process
GO:0019898	extrinsic component of membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0008104	protein localization	IC	biological process
GO:0030124	AP-4 adaptor complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0030131	clathrin adaptor complex	IEA	cellular component
GO:0030276	clathrin binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0031904	endosome lumen	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	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:0005794	Golgi apparatus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881