Human Gene TRERF1 (uc003osd.2)
  Description: Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.
RefSeq Summary (NM_033502): 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].
Transcript (Including UTRs)
   Position: hg19 chr6:42,192,669-42,419,783 Size: 227,115 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr6:42,196,083-42,237,328 Size: 41,246 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:42,192,669-42,419,783)mRNA (may differ from genome)Protein (1200 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TREF1_HUMAN
DESCRIPTION: RecName: Full=Transcriptional-regulating factor 1; AltName: Full=Breast cancer anti-estrogen resistance 2; AltName: Full=Transcriptional-regulating protein 132; AltName: Full=Zinc finger protein rapa; AltName: Full=Zinc finger transcription factor TReP-132;
FUNCTION: Activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1.
SUBUNIT: Interacts with CREBBP and EP300.
SUBCELLULAR LOCATION: Nucleus.
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 and HEK293 cells.
SIMILARITY: Contains 3 C2H2-type zinc fingers.
SIMILARITY: Contains 1 ELM2 domain.
SIMILARITY: Contains 1 SANT domain.
SEQUENCE CAUTION: Sequence=BAA92082.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TRERF1
CDC HuGE Published Literature: TRERF1

-  MalaCards Disease Associations
  MalaCards Gene Search: TRERF1
Diseases sorted by gene-association score: swayback (13), estrogen resistance (12)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.32 RPKM in Testis
Total median expression: 136.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -200.72563-0.357 Picture PostScript Text
3' UTR -947.893414-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000949 - ELM2_dom
IPR009057 - Homeodomain-like
IPR001005 - SANT/Myb
IPR017884 - SANT_dom
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF01448 - ELM2 domain
PF13912 - C2H2-type zinc finger

SCOP Domains:
46689 - Homeodomain-like
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on Q96PN7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001104 RNA polymerase II transcription cofactor activity
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0008134 transcription factor binding
GO:0008301 DNA binding, bending
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006694 steroid biosynthetic process
GO:0006707 cholesterol catabolic process
GO:0007275 multicellular organism development
GO:0042592 homeostatic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046885 regulation of hormone biosynthetic process

Cellular Component:
GO:0000118 histone deacetylase complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005730 nucleolus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AM404182 - Homo sapiens mRNA for breast cancer anti-estrogen resistance 2 (BCAR2 gene), isoform alpha.
AM404183 - Homo sapiens mRNA for breast cancer anti-estrogen resistance 2 (BCAR2 gene), isoform beta, from the beta long transcript.
AK002096 - Homo sapiens cDNA FLJ11234 fis, clone PLACE1008465.
AF297872 - Homo sapiens zinc finger transcription factor TReP-132 mRNA, complete cds.
AK127493 - Homo sapiens cDNA FLJ45586 fis, clone BRTHA3014000, highly similar to Transcriptional-regulating factor 1.
AM404259 - Homo sapiens mRNA for breast cancer anti-estrogen resistance 2 (BCAR2 gene), isoform beta, from the beta short transcript.
AJ277275 - Homo sapiens mRNA for rapa-1 (rapa gene).
AJ277276 - Homo sapiens mRNA for rapa-2 (rapa gene).
BC156203 - Synthetic construct Homo sapiens clone IMAGE:100061587, MGC:190040 transcriptional regulating factor 1 (TRERF1) mRNA, encodes complete protein.
AB384805 - Synthetic construct DNA, clone: pF1KB3458, Homo sapiens TRERF1 gene for transcriptional-regulating factor 1, complete cds, without stop codon, in Flexi system.
AK308473 - Homo sapiens cDNA, FLJ98514.
LF210874 - JP 2014500723-A/18377: Polycomb-Associated Non-Coding RNAs.
LF341666 - JP 2014500723-A/149169: Polycomb-Associated Non-Coding RNAs.
AF111801 - Homo sapiens MSTP020 (MST020) mRNA, complete cds.
LF341665 - JP 2014500723-A/149168: Polycomb-Associated Non-Coding RNAs.
DQ574983 - Homo sapiens piRNA piR-43095, complete sequence.
BC047920 - Homo sapiens, clone IMAGE:6192478, mRNA.
JD250334 - Sequence 231358 from Patent EP1572962.
JD163154 - Sequence 144178 from Patent EP1572962.
MA577243 - JP 2018138019-A/149169: Polycomb-Associated Non-Coding RNAs.
MA577242 - JP 2018138019-A/149168: Polycomb-Associated Non-Coding RNAs.
MA446451 - JP 2018138019-A/18377: Polycomb-Associated Non-Coding RNAs.
JD037069 - Sequence 18093 from Patent EP1572962.
JD232789 - Sequence 213813 from Patent EP1572962.
JD470461 - Sequence 451485 from Patent EP1572962.
JD111986 - Sequence 93010 from Patent EP1572962.
JD096831 - Sequence 77855 from Patent EP1572962.
JD290281 - Sequence 271305 from Patent EP1572962.
JD505521 - Sequence 486545 from Patent EP1572962.
JD525770 - Sequence 506794 from Patent EP1572962.
JD190934 - Sequence 171958 from Patent EP1572962.
JD372701 - Sequence 353725 from Patent EP1572962.
JD075810 - Sequence 56834 from Patent EP1572962.
JD092227 - Sequence 73251 from Patent EP1572962.
JD290240 - Sequence 271264 from Patent EP1572962.
JD206597 - Sequence 187621 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BCAR2, NM_033502, NP_277037, Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9, RAPA, TREF1_HUMAN, TREP132
UCSC ID: uc003osd.2
RefSeq Accession: NM_033502
Protein: Q96PN7 (aka TREF1_HUMAN)
CCDS: CCDS4867.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_033502.2
exon count: 18CDS single in 3' UTR: no RNA size: 7580
ORF size: 3603CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6699.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.