• Gene id: 7126

Gene Summary

• Gene Symbol: TNFAIP1   Gene   UCSC   Ensembl
• Aliases: B12, B61, BTBD34, EDP1, hBACURD2
• Gene name: TNF alpha induced protein 1
• Alternate names: BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2, BTB/POZ domain-containing protein TNFAIP1, tumor necrosis factor, alpha induced protein 1, tumor necrosis factor, alpha-induced protein 1 (endothelial),
• Gene location: 17q11.2 (37249498: 37063927)     Exons: 60     NC_000005.10
• Gene summary(Entrez): This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a
• OMIM: 191161

Protein Summary

• Protein general information: Q13829  
  • Name: BTB/POZ domain containing adapter for CUL3 mediated RhoA degradation protein 2 (hBACURD2) (BTB/POZ domain containing protein TNFAIP1) (Protein B12) (Tumor necrosis factor, alpha induced protein 1, endothelial)
  • Length: 316  
  • Mass: 36204
• Sequence:

  MSGDTCLCPASGAKPKLSGFKGGGLGNKYVQLNVGGSLYYTTVRALTRHDTMLKAMFSGRMEVLTDKEGWILIDR
  CGKHFGTILNYLRDDTITLPQNRQEIKELMAEAKYYLIQGLVNMCQSALQDKKDSYQPVCNIPIITSLKEEERLI
  ESSTKPVVKLLYNRSNNKYSYTSNSDDHLLKNIELFDKLSLRFNGRVLFIKDVIGDEICCWSFYGQGRKLAEVCC
  TSIVYATEKKQTKVEFPEARIYEETLNVLLYETPRVPDNSLLEATSRSRSQASPSEDEETFELRDRVRRIHVKRY
  STYDDRQLGHQSTHRD

• Structural information:
  • Protein Domains: (28..9-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR011333  IPR003131  
  • Prosite: PS50097
  • STRING: ENSP00000226225
• Other Databases: GeneCards:  TNFAIP1  Malacards:  TNFAIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004842	ubiquitin-protein transferase activity	IBA	contributes to
GO:0031463	Cul3-RING ubiquitin ligase complex	IBA	cellular component
GO:0016567	protein ubiquitination	IBA	biological process
GO:0017049	GTP-Rho binding	IBA	molecular function
GO:0035024	negative regulation of Rho protein signal transduction	IBA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	contributes to
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0017049	GTP-Rho binding	IDA	molecular function
GO:0017049	GTP-Rho binding	IDA	molecular function
GO:0016567	protein ubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0016477	cell migration	IMP	biological process
GO:0043149	stress fiber assembly	IMP	biological process
GO:0035024	negative regulation of Rho protein signal transduction	IMP	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0051260	protein homooligomerization	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0045740	positive regulation of DNA replication	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0006260	DNA replication	ISS	biological process
GO:0006955	immune response	IEP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray