• Gene id: 8139

Gene Summary

• Gene Symbol: GAN   Gene   UCSC   Ensembl
• Aliases: GAN1, GIG, KLHL16
• Gene name: gigaxonin
• Alternate names: gigaxonin, epididymis secretory sperm binding protein, kelch-like family member 16, kelch-like protein 16,
• Gene location: 16q23.2 (81314961: 81390808)     Exons: 11     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some prote
• OMIM: 604694

Protein Summary

• Protein general information: Q9H2C0  
  • Name: Gigaxonin (Kelch like protein 16)
  • Length: 597  
  • Mass: 67638
  • Tissue specificity: Expressed in brain, heart and muscle. {ECO
• Sequence:

  MAEGSAVSDPQHAARLLRALSSFREESRFCDAHLVLDGEEIPVQKNILAAASPYIRTKLNYNPPKDDGSTYKIEL
  EGISVMVMREILDYIFSGQIRLNEDTIQDVVQAADLLLLTDLKTLCCEFLEGCIAAENCIGIRDFALHYCLHHVH
  YLATEYLETHFRDVSSTEEFLELSPQKLKEVISLEKLNVGNERYVFEAVIRWIAHDTEIRKVHMKDVMSALWVSG
  LDSSYLREQMLNEPLVREIVKECSNIPLSQPQQGEAMLANFKPRGYSECIVTVGGEERVSRKPTAAMRCMCPLYD
  PNRQLWIELAPLSMPRINHGVLSAEGFLFVFGGQDENKQTLSSGEKYDPDANTWTALPPMNEARHNFGIVEIDGM
  LYILGGEDGEKELISMECYDIYSKTWTKQPDLTMVRKIGCYAAMKKKIYAMGGGSYGKLFESVECYDPRTQQWTA
  ICPLKERRFGAVACGVAMELYVFGGVRSREDAQGSEMVTCKSEFYHDEFKRWIYLNDQNLCIPASSSFVYGAVPI
  GASIYVIGDLDTGTNYDYVREFKRSTGTWHHTKPLLPSDLRRTGCAALRIANCKLFRLQLQQGLFRIRVHSP

• Structural information:
  • Protein Domains: (30..9-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (134..23-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR030579  IPR011333  
  • Prosite: PS50097
  • PDB: 2PPI 3HVE
  • PDBsum: 2PPI 3HVE
  • STRING: ENSP00000476795
• Other Databases: GeneCards:  GAN  Malacards:  GAN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Giant axonal neuropathy	KEGG:H01259
Giant axonal neuropathy	KEGG:H01259
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