• Gene id: 79719

Gene Summary

• Gene Symbol: AAGAB   Gene   UCSC   Ensembl
• Aliases: KPPP1, PPKP1, PPKP1A, p34
• Gene name: alpha and gamma adaptin binding protein
• Alternate names: alpha- and gamma-adaptin-binding protein p34,
• Gene location: 15q23 (67255197: 67200666)     Exons: 14     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively s
• OMIM: 614888

Protein Summary

• Protein general information: Q6PD74  
  • Name: Alpha and gamma adaptin binding protein p34
  • Length: 315  
  • Mass: 34594
  • Tissue specificity: Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus. {ECO
• Sequence:

  MAAGVPCALVTSCSSVFSGDQLVQHILGTEDLIVEVTSNDAVRFYPWTIDNKYYSADINLCVVPNKFLVTAEIAE
  SVQAFVVYFDSTQKSGLDSVSSWLPLAKAWLPEVMILVCDRVSEDGINRQKAQEWCIKHGFELVELSPEELPEED
  DDFPESTGVKRIVQALNANVWSNVVMKNDRNQGFSLLNSLTGTNHSIGSADPCHPEQPHLPAADSTESLSDHRGG
  ASNTTDAQVDSIVDPMLDLDIQELASLTTGGGDVENFERLFSKLKEMKDKAATLPHEQRKVHAEKVAKAFWMAIG
  GDRDEIEGLSSDEEH

• Structural information:
  • Interpro: IPR019341  
  • STRING: ENSP00000261880
• Other Databases: GeneCards:  AAGAB  Malacards:  AAGAB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Punctate palmoplantar keratoderma	KEGG:H01404
Punctate palmoplantar keratoderma	KEGG:H01404
Palmoplantar keratoderma type 1A	PMID:24390136
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)