• Gene id: 9907

Gene Summary

• Gene Symbol: AP5Z1   Gene   UCSC   Ensembl
• Aliases: KIAA0415, SPG48, zeta
• Gene name: adaptor related protein complex 5 subunit zeta 1
• Alternate names: AP-5 complex subunit zeta-1, adapter-related protein complex 5 zeta subunit, adaptor related protein complex 5 zeta 1 subunit, adaptor-related protein complex 5 zeta subunit, zeta5,
• Gene location: 7p22.1 (4775622: 4794396)     Exons: 17     NC_000007.14
• Gene summary(Entrez): This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene redu
• OMIM: 613653

Protein Summary

• Protein general information: O43299  
  • Name: AP 5 complex subunit zeta 1 (Adaptor related protein complex 5 zeta subunit) (Zeta5)
  • Length: 807  
  • Mass: 88605
• Sequence:

  MFSAGAESLLHQAREIQDEELKKFCSRICKLLQAEDLGPDTLDSLQRLFLIISATKYSRRLEKTCVDLLQATLGL
  PACPEQLQVLCAAILREMSPSDSLSLAWDHTQNSRQLSLVASVLLAQGDRNEEVRAVGQGVLRALESRQPEGPSL
  RHLLPVMAKVVVLSPGTLQEDQATLLSKRLVDWLRYASLQQGLPHSGGFFSTPRARQPGPVTEVDGAVATDFFTV
  LSSGHRFTDDQWLNVQAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGSTLSVISATSSAGRLLPPRERLREVAFEY
  CQRLIEQSNRRALRKGDSDLQKACLVEAVLVLDVLCRQDPSFLYRSLSCLKALHGRVRGDPASVRVLLPLAHFFL
  SHGEAAAVDSEAVYQHLFTRIPVEQFHSPMLAFEFIQFCRDNLHLFSGHLSTLRLSFPNLFKFLAWNSPPLTSEF
  VALLPALVDAGTALEMLHALLDLPCLTAVLDLQLRSAPAASERPLWDTSLRAPSCLEAFRDPQFQGLFQYLLRPK
  ASGATERLAPLHQLLQPMAGCARVAQCAQAVPTLLQAFFSAVTQVADGSLINQLALLLLGRSDSLYPAPGYAAGV
  HSVLSSQFLALCTLKPSLVVELARDLLEFLGSVNGLCSRASLVTSVVWAIGEYLSVTYDRRCTVEQINKFFEALE
  ALLFEVTQCRPSAALPRCPPQVVTVLMTTLTKLASRSQDLIPRASLLLSKMRTLAHSPATSSTHSEEGAEAIRTR
  ATELLTLLKMPSVAQFVLTPSTEVCSPRYHRDANTALPLALRTVSRLVEREAGLMPG

• Structural information:
  • Interpro: IPR028222  IPR011989  
  • STRING: ENSP00000297562
• Other Databases: GeneCards:  AP5Z1  Malacards:  AP5Z1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030119	AP-type membrane coat adaptor complex	NAS	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:0044599	AP-5 adaptor complex	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	PMID:20613862
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