• Gene id: 55809

Gene Summary

• Gene Symbol: TRERF1   Gene   UCSC   Ensembl
• Aliases: BCAR2, HSA277276, RAPA, TREP132, TReP-132, dJ139D8.5
• Gene name: transcriptional regulating factor 1
• Alternate names: transcriptional-regulating factor 1, breast cancer anti-estrogen resistance 2, rapa-1, rapa-2, transcriptional regulating protein 132, zinc finger protein rapa, zinc finger transcription factor TReP-132,
• Gene location: 6p21.1 (42452223: 42224930)     Exons: 26     NC_000006.12
• Gene summary(Entrez): This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
• OMIM: 609992

Protein Summary

• Protein general information: Q96PN7  
  • Name: Transcriptional regulating factor 1 (Breast cancer anti estrogen resistance 2) (Transcriptional regulating protein 132) (Zinc finger protein rapa) (Zinc finger transcription factor TReP 132)
  • Length: 1200  
  • Mass: 132256
  • Tissue specificity: Highest expression was seen in thymus, testis and adrenal cortex, expressed also in the adrenal medulla, thyroid, and stomach. Highly expressed in steroidogenic JEG-3 and MCF-7 cells, low expression was seen in non-steroidogenic Hep-G2
• Sequence:

  MGDQQLYKTNHVAHGSENLFYQQPPLGVHSGLNHNYGNAVTGGGMDAPQASPISPHFPQDTRDGLGLPVGSKNLG
  QMDTSRQGGWGSHAGPGNHVQLRGNLANSNMMWGAPAQAEPTDGYQYTYSQASEIRTQKLTSGVLHKLDSFTQVF
  ANQNLRIQVNNMAQVLHTQSAVMDGAPDSALRQLLSQKPMEPPAPAIPSRYQQVPQQPHPGFTGGLSKPALQVGQ
  HPTQGHLYYDYQQPLAQVPVQGGQPLQAPQMLSQHMQQMQQHQYYPPQQQQQAGQQRISMQEIQTQPQQIRPSQP
  QPPPQQQQPQQLQLQQRQGSMQIPQYYQPQPMMQHLQEQQQQQMHLQPPSYHRDPHQYTPEQAHTVQLIPLGSMS
  QYYYQEPQQPYSHPLYQQSHLSQHQQREDSQLKTYSSDRQAQAMLSSHGDLGPPDTGMGDPASSDLTRVSSTLPH
  RPLLSPSGIHLNNMGPQHQQLSPSAMWPQMHLPDGRAQPGSPESSGQPKGAFGEQFDAKNKLTCSICLKEFKNLP
  ALNGHMRSHGGMRASPNLKQEEGEKVLPPQPQPPLPPPPPPPPPPQLPPEAESLTPMVMPVSVPVKLLPPKPSSQ
  GFTNSTVAAPSARDKPASSMSDDEMPVLEIPRKHQPSVPKAEEPLKTVQEKKKFRHRPEPLFIPPPPSYNPNPAA
  SYSGATLYQSQLRSPRVLGDHLLLDPTHELPPYTPPPMLSPVRQGSGLFSNVLISGHGPGAHPQLPLTPLTPTPR
  VLLCRSNSIDGSNVTVTPGPGEQTVDVEPRINIGLRFQAEIPELQDISALAQDTHKATLVWKPWPELENHDLQQR
  VENLLNLCCSSALPGGGTNSEFALHSLFEAKGDVMVALEMLLLRKPVRLKCHPLANYHYAGSDKWTSLERKLFNK
  ALATYSKDFIFVQKMVKSKTVAQCVEYYYTWKKIMRLGRKHRTRLAEIIDDCVTSEEEEELEEEEEEDPEEDRKS
  TKEEESEVPKSPEPPPVPVLAPTEGPPLQALGQPSGSFICEMPNCGAVFSSRQALNGHARIHGGTNQVTKARGAI
  PSGKQKPGGTQSGYCSVKSSPSHSTTSGETDPTTIFPCKECGKVFFKIKSRNAHMKTHRQQEEQQRQKAQKAAFA
  AEMAATIERTTGPVGAPGLLPLDQLSLIKPIKDVDILDDDVVQQLGGVMEEAEVVDTDLLLDDQDSVLLQGDAEL

• Structural information:
  • Protein Domains: (779..87-)
    (/note="ELM2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00512-)
    (885..93-)
    (/note="SANT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00624"-)
  • Interpro: IPR000949  IPR009057  IPR001005  IPR017884  IPR036236   IPR013087  
  • Prosite: PS51156 PS51293 PS00028 PS50157
  • STRING: ENSP00000439689
• Other Databases: GeneCards:  TRERF1  Malacards:  TRERF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000118	histone deacetylase complex	IBA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0008134	transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0008301	DNA binding, bending	NAS	molecular function
GO:0007275	multicellular organism development	NAS	biological process
GO:0006707	cholesterol catabolic process	NAS	biological process
GO:0006694	steroid biosynthetic process	NAS	biological process
GO:0046885	regulation of hormone biosynthetic process	NAS	biological process
GO:0042592	homeostatic process	NAS	biological process
GO:0030374	nuclear receptor transcription coactivator activity	NAS	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0003712	transcription coregulator activity	NAS	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000118	histone deacetylase complex	IBA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0008134	transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0008301	DNA binding, bending	NAS	molecular function
GO:0007275	multicellular organism development	NAS	biological process
GO:0006707	cholesterol catabolic process	NAS	biological process
GO:0006694	steroid biosynthetic process	NAS	biological process
GO:0046885	regulation of hormone biosynthetic process	NAS	biological process
GO:0042592	homeostatic process	NAS	biological process
GO:0030374	nuclear receptor transcription coactivator activity	NAS	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0003712	transcription coregulator activity	NAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray