• Gene id: 26000

Gene Summary

• Gene Symbol: TBC1D10B   Gene   UCSC   Ensembl
• Aliases: EPI64B, FP2461
• Gene name: TBC1 domain family member 10B
• Alternate names: TBC1 domain family member 10B, Rab27A-GAPbeta, rab27A-GAP-beta,
• Gene location: 16p11.2 (30370493: 30357101)     Exons: 9     NC_000016.10
• Gene summary(Entrez): Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-act
• OMIM: 613620

Protein Summary

• Protein general information: Q4KMP7  
  • Name: TBC1 domain family member 10B (Rab27A GAP beta)
  • Length: 808  
  • Mass: 87199
• Sequence:

  METGTAPLVAPPRRHGAPAAPSPPPRGSRAGPVVVVAPGPPVTTATSAPVTLVAPGEARPAWVPGSAETSAPAPA
  PAPAPAPAVTGSTVVVLTLEASPEAPKPQLPSGPESPEPAAVAGVETSRALAAGADSPKTEEARPSPAPGPGTPT
  GTPTRTPSRTAPGALTAKPPLAPKPGTTVASGVTARSASGQVTGGHGAAAATSASAGQAPEDPSGPGTGPSGTCE
  APVAVVTVTPAPEPAENSQDLGSTSSLGPGISGPRGQAPDTLSYLDSVSLMSGTLESLADDVSSMGSDSEINGLA
  LRKTDKYGFLGGSQYSGSLESSIPVDVARQRELKWLDMFSNWDKWLSRRFQKVKLRCRKGIPSSLRAKAWQYLSN
  SKELLEQNPGKFEELERAPGDPKWLDVIEKDLHRQFPFHEMFAARGGHGQQDLYRILKAYTIYRPDEGYCQAQAP
  VAAVLLMHMPAEQAFWCLVQICDKYLPGYYSAGLEAIQLDGEIFFALLRRASPLAHRHLRRQRIDPVLYMTEWFM
  CIFARTLPWASVLRVWDMFFCEGVKIIFRVALVLLRHTLGSVEKLRSCQGMYETMEQLRNLPQQCMQEDFLVHEV
  TNLPVTEALIERENAAQLKKWRETRGELQYRPSRRLHGSRAIHEERRRQQPPLGPSSSLLSLPGLKSRGSRAAGG
  APSPPPPVRRASAGPAPGPVVTAEGLHPSLPSPTGNSTPLGSSKETRKQEKERQKQEKERQKQEKEREKERQKQE
  KEREKQEKEREKQEKERQKQEKKAQGRKLSLRRKADGPPGPHDGGDRPSAEARQDAYF

• Structural information:
  • Protein Domains: (360..54-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  
  • Prosite: PS50086
  • STRING: ENSP00000386538
• Other Databases: GeneCards:  TBC1D10B  Malacards:  TBC1D10B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process
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	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881