• Gene id: 101060389

Gene Summary

• Gene Symbol: TBC1D3D   Gene   UCSC   Ensembl
• Aliases: PRC17, TBC1D3, TBC1D3A, TBC1D3H
• Gene name: TBC1 domain family member 3D
• Alternate names: TBC1 domain family member 3D, Prostate cancer gene 17 protein, Rab GTPase-activating protein PRC17, TBC1 domain family member 3, TBC1 domain family, member 3H, TRE17 alpha protein,
• Gene location: 17q12 (38004032: 38014907)     Exons: 13     NC_000017.11
• OMIM: 610807

Protein Summary

• Protein general information: A0A087WVF3  
  • Name: TBC1 domain family member 3D
  • Length: 549  
  • Mass: 62187
  • Tissue specificity: Expressed in pancreas, thymus and testis. {ECO
• Sequence:

  MDVVEVAGSWWAQEREDIIMKYEKGHRAGLPEDKGPKPFRSYNNNVDHLGIVHETELPPLTAREAKQIRREISRK
  SKWVDMLGDWEKYKSSRKLIDRAYKGMPMNIRGPMWSVLLNTEEMKLKNPGRYQIMKEKGKRSSEHIQRIDRDVS
  GTLRKHIFFRDRYGTKQRELLHILLAYEEYNPEVGYCRDLSHIAALFLLYLPEEDAFWALVQLLASERHSLQGFH
  SPNGGTVQGLQDQQEHVVATSQPKTMGHQDKKDLCGQCSPLGCLIRILIDGISLGLTLRLWDVYLVEGEQALMPI
  TRIAFKVQQKRLTKTSRCGPWARFCNRFVDTWARDEDTVLKHLRASMKKLTRKQGDLPPPAKPEQGSSASRPVPA
  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: ENSP00000478426
• Other Databases: GeneCards:  TBC1D3D  Malacards:  TBC1D3D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
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)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)