• Gene id: 23329

Gene Summary

• Gene Symbol: TBC1D30   Gene   UCSC   Ensembl
• Gene name: TBC1 domain family member 30
• Alternate names: TBC1 domain family member 30,
• Gene location: 12q14.3 (89821013: 89936610)     Exons: 7     NC_000001.11
• OMIM: 615077

Protein Summary

• Protein general information: Q9Y2I9  
  • Name: TBC1 domain family member 30
  • Length: 924  
  • Mass: 102743
• Sequence:

  MDVLPTGGGRPGLRTELEFRGGGGEARLESQEEETIPAAPPAPRLRGAAERPRRSRDTWDGDEDTEPGEACGGRT
  SRTASLVSGLLNELYSCTEEEEAAGGGRGAEGRRRRRDSLDSSTEASGSDVVLGGRSGAGDSRVLQELQERPSQR
  HQMLYLRQKDANELKTILRELKYRIGIQSAKLLRHLKQKDRLLHKVQRNCDIVTACLQAVSQKRRVDTKLKFTLE
  PSLGQNGFQQWYDALKAVARLSTGIPKEWRRKVWLTLADHYLHSIAIDWDKTMRFTFNERSNPDDDSMGIQIVKD
  LHRTGCSSYCGQEAEQDRVVLKRVLLAYARWNKTVGYCQGFNILAALILEVMEGNEGDALKIMIYLIDKVLPESY
  FVNNLRALSVDMAVFRDLLRMKLPELSQHLDTLQRTANKESGGGYEPPLTNVFTMQWFLTLFATCLPNQTVLKIW
  DSVFFEGSEIILRVSLAIWAKLGEQIECCETADEFYSTMGRLTQEMLENDLLQSHELMQTVYSMAPFPFPQLAEL
  REKYTYNITPFPATVKPTSVSGRHSKARDSDEENDPDDEDAVVNAVGCLGPFSGFLAPELQKYQKQIKEPNEEQS
  LRSNNIAELSPGAINSCRSEYHAAFNSMMMERMTTDINALKRQYSRIKKKQQQQVHQVYIRADKGPVTSILPSQV
  NSSPVINHLLLGKKMKMTNRAAKNAVIHIPGHTGGKISPVPYEDLKTKLNSPWRTHIRVHKKNMPRTKSHPGCGD
  TVGLIDEQNEASKTNGLGAAEAFPSGCTATAGREGSSPEGSTRRTIEGQSPEPVFGDADVDVSAVQAKLGALELN
  QRDAAAETELRVHPPCQRHCPEPPSAPEENKATSKAPQGSNSKTPIFSPFPSVKPLRKSATARNLGLYGPTERTP
  TVHFPQMSRSFSKPGGGNSGTKKR

• Structural information:
  • Protein Domains: (249..45-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  IPR032738  
  • Prosite: PS50086
  • STRING: ENSP00000440207
• Other Databases: GeneCards:  TBC1D30  Malacards:  TBC1D30

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:1902018	negative regulation of cilium assembly	IMP	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)