• Gene id: 84897

Gene Summary

• Gene Symbol: TBRG1   Gene   UCSC   Ensembl
• Aliases: NIAM, TB-5
• Gene name: transforming growth factor beta regulator 1
• Alternate names: transforming growth factor beta regulator 1, nuclear interactor of ARF and MDM2,
• Gene location: 11q24.2 (124622845: 124635925)     Exons: 10     NC_000011.10
• OMIM: 610614

Protein Summary

• Protein general information: Q3YBR2  
  • Name: Transforming growth factor beta regulator 1 (Nuclear interactor of ARF and Mdm2)
  • Length: 411  
  • Mass: 44946
  • Tissue specificity: Widely expressed at low levels in most tissues, with highest levels in pancreas, lung and liver. Expression is decreased in primary tumors including lung, liver, breast, pancreas and kidney carcinomas, chronic lymphocytic leukemia and
• Sequence:

  MSLLDGLASSPRAPLQSSKARMKKLPKKSQNEKYRLKYLRLRKAAKATVFENAAICDEIARLEEKFLKAKEERRY
  LLKKLLQLQALTEGEVQAAAPSHSSSLPLTYGVASSVGTIQGAGPISGPSTGAEEPFGKKTKKEKKEKGKENNKL
  EVLKKTCKKKKMAGGARKLVQPIALDPSGRPVFPIGLGGLTVYSLGEIITDRPGFHDESAIYPVGYCSTRIYASM
  KCPDQKCLYTCQIKDGGVQPQFEIVPEDDPQNAIVSSSADACHAELLRTISTTMGKLMPNLLPAGADFFGFSHPA
  IHNLIQSCPGARKCINYQWVKFDVCKPGDGQLPEGLPENDAAMSFEAFQRQIFDEDQNDPLLPGSLDLPELQPAA
  FVSSYQPMYLTHEPLVDTHLQHLKSPSQGSPIQSSD

• Structural information:
  • Protein Domains: (182..24-)
    (/note="FYR-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00875-)
    (242..32-)
    (/note="FYR-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00876"-)
  • Interpro: IPR003889  IPR003888  IPR040092  
  • Prosite: PS51543 PS51542
  • PDB: 2WZO
  • PDBsum: 2WZO
  • STRING: ENSP00000409016
• Other Databases: GeneCards:  TBRG1  Malacards:  TBRG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006260	DNA replication	IMP	biological process
GO:1990173	protein localization to nucleoplasm	IDA	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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