• Gene id: 353149

Gene Summary

• Gene Symbol: TBC1D26   Gene   UCSC   Ensembl
• Gene name: TBC1 domain family member 26
• Alternate names: TBC1 domain family member 26,
• Gene location: 17p12 (15732276: 15744783)     Exons: 4     NC_000017.11

Protein Summary

• Protein general information: Q86UD7  
  • Name: TBC1 domain family member 26
  • Length: 250  
  • Mass: 28839
• Sequence:

  MEMDGDPYNLPAQGQGNIIITKYEQGHRAGAAVDLGHEQVDVRKYTNNLGIVHEMELPHVSALEVKQRRKESKRT
  NKWQKMLADWTKYRSTKKLSQRVYKVIPLAVRGRAWSLLLDIDRIKSQNPGKYKVMKEKGKRSSRIIHCIQLDVS
  HTLQKHMMFIQRFGVKQQELCDILVAYSAYNPEVGYHRDLSRITAILLLCLPEEDAFWALTQLLAGERHSLWYST
  AQILPGSRGSYRTRSRCCTSPSQRS

• Structural information:
  • Protein Domains: (101..25-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  
  • Prosite: PS50086
• Other Databases: GeneCards:  TBC1D26  Malacards:  TBC1D26

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq