• Gene id: 11138

Gene Summary

• Gene Symbol: TBC1D8   Gene   UCSC   Ensembl
• Aliases: AD3, GRAMD8, HBLP1, TBC1D8A, VRP
• Gene name: TBC1 domain family member 8
• Alternate names: TBC1 domain family member 8, BUB2-like protein 1, TBC1 domain family, member 8 (with GRAM domain), TBC1 domain family, member 8A, vascular Rab-GAP/TBC-containing protein,
• Gene location: 2q11.2 (101195320: 101006434)     Exons: 25     NC_000002.12
• OMIM: 0

Protein Summary

• Protein general information: O95759  
  • Name: TBC1 domain family member 8 (AD 3) (Vascular Rab GAP/TBC containing protein)
  • Length: 1140  
  • Mass: 130835
• Sequence:

  MWLKPEEVLLKNALKLWVTQKSSCYFILQRRRGHGEGGGRLTGRLVGALDAVLDSNARVAPFRILLQVPGSQVYS
  PIACGATLEEINQHWDWLEQNLLHTLSVFDNKDDIASFVKGKVKALIAEETSSRLAEQEEEPEKFREALVKFEAR
  FNFPEAEKLVTYYSCCCWKGRVPRQGWLYLSINHLCFYSFFLGKELKLVVPWVDIQKLERTSNVFLTDTIRITTQ
  NKERDFSMFLNLDEVFKVMEQLADVTLRRLLDNEVFDLDPDLQEPSQITKRDLEARAQNEFFRAFFRLPRKEKLH
  AVVDCSLWTPFSRCHTTGRMFASDSYICFASREDGCCKIILPLREVVSIEKMEDTSLLPHPIIVSIRSKVAFQFI
  ELRDRDSLVEALLARLKQVHANHPVHYDTSADDDMASLVFHSTSMCSDHRFGDLEMMSSQNSEESEKEKSPLMHP
  DALVTAFQQSGSQSPDSRMSREQIKISLWNDHFVEYGRTVCMFRTEKIRKLVAMGIPESLRGRLWLLFSDAVTDL
  ASHPGYYGNLVEESLGKCCLVTEEIERDLHRSLPEHPAFQNETGIAALRRVLTAYAHRNPKIGYCQSMNILTSVL
  LLYTKEEEAFWLLVAVCERMLPDYFNHRVIGAQVDQSVFEELIKGHLPELAEHMNDLSALASVSLSWFLTLFLSI
  MPLESAVNVVDCFFYDGIKAIFQLGLAVLEANAEDLCSSKDDGQALMILSRFLDHIKNEDSPGPPVGSHHAFFSD
  DQEPYPVTDISDLIRDSYEKFGDQSVEQIEHLRYKHRIRVLQGHEDTTKQNVLRVVIPEVSILPEDLEELYDLFK
  REHMMSCYWEQPRPMASRHDPSRPYAEQYRIDARQFAHLFQLVSPWTCGAHTEILAERTFRLLDDNMDQLIEFKA
  FVSCLDIMYNGEMNEKIKLLYRLHIPPALTENDRDSQSPLRNPLLSTSRPLVFGKPNGDAVDYQKQLKQMIKDLA
  KEKDKTEKELPKMSQREFIQFCKTLYSMFHEDPEENDLYQAIATVTTLLLQIGEVGQRGSSSGSCSQECGEELRA
  SAPSPEDSVFADTGKTPQDSQAFPEAAERDWTVSLEHILASLLTEQSLVNFFEKPLDMKSKLENAKINQYNLKTF
  EMSHQSQSELKLSNL

• Structural information:
  • Protein Domains: (145..21-)
    (/note="GRAM-1)
    (285..35-)
    (/note="GRAM-2)
    (505..69-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR011992  IPR004182  IPR011993  IPR000195  IPR035969   IPR036009  IPR036016  
  • Prosite: PS50086
  • CDD: cd13349 cd13353
  • STRING: ENSP00000366036
• Other Databases: GeneCards:  TBC1D8  Malacards:  TBC1D8

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:0005096	GTPase activator activity	IEA	molecular function
GO:0008015	blood circulation	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0008284	positive regulation of cell population proliferation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq