• Gene id: 55317

Gene Summary

• Gene Symbol: AP5S1   Gene   UCSC   Ensembl
• Aliases: C20orf29
• Gene name: adaptor related protein complex 5 subunit sigma 1
• Alternate names: AP-5 complex subunit sigma-1, adapter-related protein complex 5 sigma subunit, adaptor related protein complex 5 sigma 1 subunit, adaptor-related protein complex 5 sigma subunit, protein C20orf29, sigma5,
• Gene location: 20p13 (3820523: 3828837)     Exons: 3     NC_000020.11
• OMIM: 614824

Protein Summary

• Protein general information: Q9NUS5  
  • Name: AP 5 complex subunit sigma 1 (Adaptor related protein complex 5 sigma subunit) (Sigma5)
  • Length: 200  
  • Mass: 22522
• Sequence:

  MVHAFLIHTLRAPNTEDTGLCRVLYSCVFGAEKSPDDPRPHGAERDRLLRKEQILAVARQVESMCRLQQQASGRP
  PMDLQPQSSDEQVPLHEAPRGAFRLAAENPFQEPRTVVWLGVLSLGFALVLDAHENLLLAEGTLRLLTRLLLDHL
  RLLAPSTSLLLRADRIEGILTRFLPHGQLLFLNDQFVQGLEKEFSAAWPR

• Structural information:
  • Interpro: IPR029392  
  • DIP: 60182
  • STRING: ENSP00000481750
• Other Databases: GeneCards:  AP5S1  Malacards:  AP5S1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005764	lysosome	IBA	cellular component
GO:0030119	AP-type membrane coat adaptor complex	IBA	cellular component
GO:0016197	endosomal transport	IBA	biological process
GO:0005770	late endosome	IBA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0030119	AP-type membrane coat adaptor complex	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0016197	endosomal transport	IMP	biological process
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:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0016197	endosomal transport	IEA	biological process
GO:0030119	AP-type membrane coat adaptor complex	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process

Diseases

Associated diseases	References
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq