• Gene id: 221322

Gene Summary

• Gene Symbol: TBC1D32   Gene   UCSC   Ensembl
• Aliases: BROMI, C6orf170, C6orf171
• Gene name: TBC1 domain family member 32
• Alternate names: protein broad-minded, broad-minded homolog,
• Gene location: 6q22.31 (121335383: 121079493)     Exons: 45     NC_000006.12
• Gene summary(Entrez): This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternati
• OMIM: 615867

Protein Summary

• Protein general information: Q96NH3  
  • Name: Protein broad minded (TBC1 domain family member 32)
  • Length: 1257  
  • Mass: 144756
• Sequence:

  MAHFSSEDQAMLQAMLRRLFQSVKEKITGAPSLECAEEILLHLEETDENFHNYEFVKYLRQHIGNTLGSMIEEEM
  EKCTSDRNQGEECGYDTVVQQVTKRTQESKEYKEMMHYLKNIMIAVVESMINKFEEDETRNQERQKKIQKEKSHS
  YRTDNCSDSDSSLNQSYKFCQGKLQLILDQLDPGQPKEVRYEALQTLCSAPPSDVLNCENWTTLCEKLTVSLSDP
  DPVFSDRILKFCAQTFLLSPLHMTKEIYTSLAKYLESYFLSRENHIPTLSAGVDITNPNMTRLLKKVRLLNEYQK
  EAPSFWIRHPEKYMEEIVESTLSLLTVKHNQSHVVSQKILDPIYFFALVDTKAVWFKKWMHAHYSRTTVLRLLET
  KYKSLVTTAIQQCVQYFEMCKTRKADETLGHSKHCRNKQKTFYYLGQELQYIYFIHSLCLLGRLLIYKQGRKLFP
  IKLKNKKGLVSLIDLLVLFTQLIYYSPSCPKMTSAAHSENYSPASMVTEVLWILSDQKECAVECLYNNIVIETLL
  QPIHNLMKGNEASPNCSETALIHIAGILARIASVEEGLILLLYGANMNSSEESPTGAHIIAQFSKKLLDEDISIF
  SGSEMLPVVKGAFISVCRHIYSTCEGLQVLITYNLHESIAKAWKKTSLLSERIPTPVEGSDSVSSVSQESQNIMA
  WEDNLLDDLLHFAATPKGLLLLQRTGAINECVTFIFNRYAKKLQVSRHKKFGYGVLVTRVASTAAGGIALKKSGF
  INELITELWSNLEYGRDDVRVTHPRTTPVDPIDRSCQKSFLALVNLLSYPAIYELVRNQDLPNKTEYSLREVPTC
  VIDIIDRLIILNSEAKIRSLFNYEQSHIFGLRDFIIDGLSVERNHVLVRINLVGGPLERILPPRLLEKSDNPYPW
  PMFSSYPLPNCYLSDITRNAGIKQDNDLDKLLLCLKISDKQTEWIENCQRQFCKMMKAKPDIISGEALIELLEKF
  VLHLTESPSECYFPSVEYTATDANVKNESLSSVQQLGIKMTVRYGKFLSLLKDGAENDLTWVLKHCERFLKQQQT
  SIKSSLLCLQGNYAGHDWFVSSLFMIMLGDKEKTFQFLHQFSRLLTSAFLWLPRLHISSYLPNDTVESGIHPVYF
  CSTHYIEMLLKAELPLVFSAFHMSGFAPSQICLQWITQCFWNYLDWIEICHYIATCVFLGPDYQVYICIAVFKHL
  QQDILQHTQTQDLQVFLKEEALHGFRVSDYFEYMEILEQNYRTVLLRDMRNIRLQST

• Structural information:
  • Protein Domains: (1119..124-)
    (/note="Rab-GAP-TBC")
  • Interpro: IPR032735  IPR035969  IPR039156  
  • STRING: ENSP00000381270
• Other Databases: GeneCards:  TBC1D32  Malacards:  TBC1D32

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:1905515	non-motile cilium assembly	IBA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0003406	retinal pigment epithelium development	IEA	biological process
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0061512	protein localization to cilium	IEA	biological process
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0021532	neural tube patterning	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
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)