• Gene id: 55773

Gene Summary

• Gene Symbol: TBC1D23   Gene   UCSC   Ensembl
• Aliases: NS4ATP1, PCH11
• Gene name: TBC1 domain family member 23
• Alternate names: TBC1 domain family member 23, HCV non-structural protein 4A-transactivated protein 1, HCV nonstructural protein 4A-transactivated protein 1,
• Gene location: 3q12.1-q12.2 (144336481: 144330564)     Exons: 3     NC_000008.11
• OMIM: 617687

Protein Summary

• Protein general information: Q9NUY8  
  • Name: TBC1 domain family member 23 (HCV non structural protein 4A transactivated protein 1)
  • Length: 699  
  • Mass: 78322
  • Tissue specificity: Isoform 1
• Sequence:

  MAEGEDVPPLPTSSGDGWEKDLEEALEAGGCDLETLRNIIQGRPLPADLRAKVWKIALNVAGKGDSLASWDGILD
  LPEQNTIHKDCLQFIDQLSVPEEKAAELLLDIESVITFYCKSRNIKYSTSLSWIHLLKPLVHLQLPRSDLYNCFY
  AIMNKYIPRDCSQKGRPFHLFRLLIQYHEPELCSYLDTKKITPDSYALNWLGSLFACYCSTEVTQAIWDGYLQQA
  DPFFIYFLMLIILVNAKEVILTQESDSKEEVIKFLENTPSSLNIEDIEDLFSLAQYYCSKTPASFRKDNHHLFGS
  TLLGIKDDDADLSQALCLAISVSEILQANQLQGEGVRFFVVDCRPAEQYNAGHLSTAFHLDSDLMLQNPSEFAQS
  VKSLLEAQKQSIESGSIAGGEHLCFMGSGREEEDMYMNMVLAHFLQKNKEYVSIASGGFMALQQHLADINVDGPE
  NGYGHWIASTSGSRSSINSVDGESPNGSSDRGMKSLVNKMTVALKTKSVNVREKVISFIENTSTPVDRMSFNLPW
  PDRSCTERHVSSSDRVGKPYRGVKPVFSIGDEEEYDTDEIDSSSMSDDDRKEVVNIQTWINKPDVKHHFPCKEVK
  ESGHMFPSHLLVTATHMYCLREIVSRKGLAYIQSRQALNSVVKITSKKKHPELITFKYGNSSASGIEILAIERYL
  IPNAGDATKAIKQQIMKVLDALES

• Structural information:
  • Protein Domains: (44..22-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163-)
    (334..44-)
    (/note="Rhodanese-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00173"-)
  • Interpro: IPR000195  IPR035969  IPR001763  IPR036873  IPR039755  
  • Prosite: PS50206 PS50086
  • PDB: 6JM5
  • PDBsum: 6JM5
  • STRING: ENSP00000377700
• Other Databases: GeneCards:  TBC1D23  Malacards:  TBC1D23

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0071203	WASH complex	IDA	colocalizes with
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0099041	vesicle tethering to Golgi	IDA	biological process
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:1990403	embryonic brain development	ISS	biological process
GO:0031175	neuron projection development	ISS	biological process
GO:0016192	vesicle-mediated transport	ISS	biological process
GO:0007420	brain development	IMP	biological process
GO:0007420	brain development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0042147	retrograde transport, endosome to Golgi	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
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:0016192	vesicle-mediated transport	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0032680	regulation of tumor necrosis factor production	IEA	biological process
GO:0032755	positive regulation of interleukin-6 production	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0071203	WASH complex	IEA	cellular component
GO:1990403	embryonic brain development	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray