• Gene id: 84218

Gene Summary

• Gene Symbol: TBC1D3F   Gene   UCSC   Ensembl
• Aliases: TBC1D3, TBC1D3G
• Gene name: TBC1 domain family member 3F
• Alternate names: TBC1 domain family member 3F, TBC1 domain family member 3, TBC1 domain family member 3G, prostate cancer gene 17 protein, protein TRE17-alpha,
• Gene location: 17q12 (36439520: 36428611)     Exons: 3     NC_000017.11
• OMIM: 610809

Protein Summary

• Protein general information: A6NER0  
  • Name: TBC1 domain family member 3F
  • Length: 549  
  • Mass: 62185
  • Tissue specificity: Expressed in most tissues including pancreas, thymus and testis. {ECO
• Sequence:

  MDVVEVAGSWWAQEREDIIMKYEKGHRAGLPEDKGPKPFRSYNNNVDHLGIVHETELPPLTAREAKQIRREISRK
  SKWVDMLGDWEKYKSSRKLIDRAYKGMPMNIRGPMWSVLLNIEEMKLKNPGRYQIMKEKGKRSSEHIQRIDRDVS
  GTLRKHIFFRDRYGTKQRELLHILLAYEEYNPEVGYCRDLSHIAALFLLYLPEEDAFWALVQLLASERHSLQGFH
  SPNGGTVQGLQDQQEHVVATSQPKTMGHQDKKDLCGQCSPLGCLIRILIDGISLGLTLRLWDVYLVEGEQALMPI
  TRIAFKVQQKRLTKTSRCGPWARFCNRFVDTWARDEDTVLKHLRASMKKLTRKKGDVPPPAKPEQGSSASRPVPA
  SRGGKTLCKGDRQAPPGPPARFPRPIWSASPPRAPRSSTPCPGGAVREDTYPVGTQGVPSPALAQGGPQGSWRFL
  QWNSMPRLPTDLDVEGPWFRHYDFRQSCWVRAISQEDQLAPCWQAEHPAERVRSAFAAPSTDSDQGTPFRARDEQ
  QCAPTSGPCLCGLHLESSQFPPGF

• Structural information:
  • Protein Domains: (101..29-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  
  • Prosite: PS50086
  • STRING: ENSP00000482590
• Other Databases: GeneCards:  TBC1D3F  Malacards:  TBC1D3F

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201

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)