• Gene id: 64786

Gene Summary

• Gene Symbol: TBC1D15   Gene   UCSC   Ensembl
• Aliases: RAB7-GAP
• Gene name: TBC1 domain family member 15
• Alternate names: TBC1 domain family member 15, GAP for RAB7, GTPase-activating protein RAB7, Tre-2-budding uninhibited by benzimidazole-cell division cycle 16 domain, domain family member 15, Tre2/Bub2/Cdc16 domain family member 15,
• Gene location: 12q21.1 (71839750: 71927250)     Exons: 25     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracell
• OMIM: 612662

Protein Summary

• Protein general information: Q8TC07  
  • Name: TBC1 domain family member 15 (GTPase activating protein RAB7) (GAP for RAB7) (Rab7 GAP)
  • Length: 691  
  • Mass: 79491
• Sequence:

  MAAAGVVSGKIIYEQEGVYIHSSCGKTNDQDGLISGILRVLEKDAEVIVDWRPLDDALDSSSILYARKDSSSVVE
  WTQAPKERGHRGSEHLNSYEAEWDMVNTVSFKRKPHTNGDAPSHRNGKSKWSFLFSLTDLKSIKQNKEGMGWSYL
  VFCLKDDVVLPALHFHQGDSKLLIESLEKYVVLCESPQDKRTLLVNCQNKSLSQSFENLLDEPAYGLIQAGLLDR
  RKLLWAIHHWKKIKKDPYTATMIGFSKVTNYIFDSLRGSDPSTHQRPPSEMADFLSDAIPGLKINQQEEPGFEVI
  TRIDLGERPVVQRREPVSLEEWTKNIDSEGRILNVDNMKQMIFRGGLSHALRKQAWKFLLGYFPWDSTKEERTQL
  QKQKTDEYFRMKLQWKSISQEQEKRNSRLRDYRSLIEKDVNRTDRTNKFYEGQDNPGLILLHDILMTYCMYDFDL
  GYVQGMSDLLSPLLYVMENEVDAFWCFASYMDQMHQNFEEQMQGMKTQLIQLSTLLRLLDSGFCSYLESQDSGYL
  YFCFRWLLIRFKREFSFLDILRLWEVMWTELPCTNFHLLLCCAILESEKQQIMEKHYGFNEILKHINELSMKIDV
  EDILCKAEAISLQMVKCKELPQAVCEILGLQGSEVTTPDSDVGEDENVVMTPCPTSAFQSNALPTLSASGARNDS
  PTQIPVSSDVCRLTPA

• Structural information:
  • Protein Domains: (346..55-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  IPR021935  
  • Prosite: PS50086
  • STRING: ENSP00000448182
• Other Databases: GeneCards:  TBC1D15  Malacards:  TBC1D15

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:0043087	regulation of GTPase activity	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005096	GTPase activator activity	ISS	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process

KEGG pathways

Pathway id	Pathway name
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray