• Gene id: 23431

Gene Summary

• Gene Symbol: AP4E1   Gene   UCSC   Ensembl
• Aliases: CPSQ4, SPG51, STUT1
• Gene name: adaptor related protein complex 4 subunit epsilon 1
• Alternate names: AP-4 complex subunit epsilon-1, AP-4 adaptor complex subunit epsilon, adaptor related protein complex 4 epsilon 1 subunit, adaptor-related protein complex AP-4 epsilon, epsilon-adaptin,
• Gene location: 15q21.2 (50908568: 51005899)     Exons: 23     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle form
• OMIM: 300974

Protein Summary

• Protein general information: Q9UPM8  
  • Name: AP 4 complex subunit epsilon 1 (AP 4 adaptor complex subunit epsilon) (Adaptor related protein complex 4 subunit epsilon 1) (Epsilon subunit of AP 4) (Epsilon adaptin)
  • Length: 1137  
  • Mass: 127287
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MSDIVEKTLTALPGLFLQNQPGGGPAAAKASFSSRLGSLVRGITALTSKHEEEKLIQQELSSLKATVSAPTTTLK
  MMKECMVRLIYCEMLGYDASFGYIHAIKLAQQGNLLEKRVGYLAVSLFLHESHELLLLLVNTVVKDLQSTNLVEV
  CMALTVVSQIFPCEMIPAVLPLIEDKLQHSKEIVRRKAVLALYKFHLIAPNQVQHIHIKFRKALCDRDVGVMAAS
  LHIYLRMIKENSSGYKDLTGSFVTILKQVVGGKLPVEFNYHSVPAPWLQIQLLRILGLLGKDDQRTSELMYDVLD
  ESLRRAELNHNVTYAILFECVHTVYSIYPKSELLEKAAKCIGKFVLSPKINLKYLGLKALTYVIQQDPTLALQHQ
  MTIIECLDHPDPIIKRETLELLYRITNAQNITVIVQKMLEYLHQSKEEYVIVNLVGKIAELAEKYAPDNAWFIQT
  MNAVFSVGGDVMHPDIPNNFLRLLAEGFDDETEDQQLRLYAVQSYLTLLDMENVFYPQRFLQVMSWVLGEYSYLL
  DKETPEEVIAKLYKLLMNDSVSSETKAWLIAAVTKLTSQAHSSNTVERLIHEFTISLDTCMRQHAFELKHLHENV
  ELMKSLLPVDRSCEDLVVDASLSFLDGFVAEGLSQGAAPYKPPHQRQEEKLSQEKVLNFEPYGLSFSSSGFTGRQ
  SPAGISLGSDVSGNSAETGLKETNSLKLEGIKKLWGKEGYLPKKESKTGDESGALPVPQESIMENVDQAITKKDQ
  SQVLTQSKEEKEKQLLASSLFVGLGSESTINLLGKADTVSHKFRRKSKVKEAKSGETTSTHNMTCSSFSSLSNVA
  YEDDYYSNTLHDTGDKELKKFSLTSELLDSESLTELPLVEKFSYCSLSTPSLFANNNMEIFHPPQSTAASVAKES
  SLASSFLEETTEYIHSNAMEVCNNETISVSSYKIWKDDCLLMVWSVTNKSGLELKSADLEIFPAENFKVTEQPGC
  CLPVMEAESTKSFQYSVQIEKPFTEGNLTGFISYHMMDTHSAQLEFSVNLSLLDFIRPLKISSDDFGKLWLSFAN
  DVKQNVKMSESQAALPSALKTLQQKLRLHIIEIIGNEGLLACQLLPSIPCLLHCRVHADVLALWFRSSCSTLPDY
  LLYQCQKVMEGS

• Structural information:
  • Interpro: IPR017109  IPR028269  IPR011989  IPR016024  IPR002553  
  • STRING: ENSP00000261842
• Other Databases: GeneCards:  AP4E1  Malacards:  AP4E1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0140312	cargo adaptor activity	IBA	molecular function
GO:0030124	AP-4 adaptor complex	IBA	cellular component
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0006605	protein targeting	IC	biological process
GO:0008104	protein localization	IC	biological process
GO:0030124	AP-4 adaptor complex	IDA	cellular component
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:0030124	AP-4 adaptor complex	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
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: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
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R