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Aliases for TRERF1 Gene

Aliases for TRERF1 Gene

  • Transcriptional Regulating Factor 1 2 3 5
  • Breast Cancer Anti-Estrogen Resistance 2 2 3 4
  • Zinc Finger Transcription Factor TReP-132 3 4
  • Zinc Finger Protein Rapa 3 4
  • TREP132 3 4
  • BCAR2 3 4
  • RAPA 3 4
  • Transcriptional Regulating Protein 132 3
  • Transcriptional-Regulating Protein 132 4
  • Transcriptional-Regulating Factor 1 3
  • HSA277276 3
  • DJ139D8.5 3
  • TReP-132 3
  • Rapa-1 3
  • Rapa-2 3

External Ids for TRERF1 Gene

Previous HGNC Symbols for TRERF1 Gene

  • BCAR2

Previous GeneCards Identifiers for TRERF1 Gene

  • GC06M042242
  • GC06M042303
  • GC06M041910

Summaries for TRERF1 Gene

Entrez Gene Summary for TRERF1 Gene

  • 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]

GeneCards Summary for TRERF1 Gene

TRERF1 (Transcriptional Regulating Factor 1) is a Protein Coding gene. Diseases associated with TRERF1 include Swayback and Estrogen Resistance. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is ZNF541.

UniProtKB/Swiss-Prot for TRERF1 Gene

  • Binds DNA and activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1.

Gene Wiki entry for TRERF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRERF1 Gene

Genomics for TRERF1 Gene

Regulatory Elements for TRERF1 Gene

Enhancers for TRERF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F042363 1.6 FANTOM5 Ensembl ENCODE 20.3 +82.1 82105 12.6 HDGF ATF1 PKNOX1 WRNIP1 ZNF121 GATA2 FOS ZNF263 JUNB TBX21 TRERF1 UBR2 GUCA1B CCND3 TBCC GC06M042412 LOC105375061
GH06F042337 1.5 FANTOM5 Ensembl ENCODE 9.3 +113.1 113105 3.0 PKNOX1 RAD21 BRCA1 RFX5 GATA2 ETV6 FOS CREM EGR2 ZNF263 TRERF1 UBR2 GC06M042412 LOC105375061
GH06F042769 1.5 FANTOM5 Ensembl ENCODE 9.1 -319.1 -319145 3.1 HDGF PKNOX1 ZBTB40 ZNF143 ZNF207 ETV6 CREM HCFC1 SMAD5 USF2 TBCC CUL7 RPL7L1 CUL9 TRERF1 C6orf226 PRPH2 GLTSCR1L GNMT UBR2
GH06F042377 1.2 FANTOM5 Ensembl ENCODE 9.7 +72.5 72505 4.2 MAFG CEBPB ZIC2 ZNF623 ZNF664 ZNF316 MAFK EMSY TRERF1 GC06M042412 LOC105375061
GH06F042325 0.6 Ensembl ENCODE 17.8 +125.9 125902 1.0 MNT TRERF1 GC06M042412 LOC105375061
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRERF1 on UCSC Golden Path with GeneCards custom track

Promoters for TRERF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001216840 505 5401 SIN3A FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ELK1 KLF7 ZNF263 SP3

Genomic Location for TRERF1 Gene

Chromosome:
6
Start:
42,224,931 bp from pter
End:
42,452,205 bp from pter
Size:
227,275 bases
Orientation:
Minus strand

Genomic View for TRERF1 Gene

Genes around TRERF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRERF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRERF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRERF1 Gene

Proteins for TRERF1 Gene

  • Protein details for TRERF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PN7-TREF1_HUMAN
    Recommended name:
    Transcriptional-regulating factor 1
    Protein Accession:
    Q96PN7
    Secondary Accessions:
    • Q05GC6
    • Q7Z6T2
    • Q7Z6T3
    • Q9NQ72
    • Q9NQ73
    • Q9NUN9

    Protein attributes for TRERF1 Gene

    Size:
    1200 amino acids
    Molecular mass:
    132256 Da
    Quaternary structure:
    • Interacts with CREBBP and EP300 (PubMed:11349124). Interacts with DNTTIP1 (PubMed:16371131, PubMed:21573134). Interacts with DNTT (PubMed:16371131).
    SequenceCaution:
    • Sequence=BAA92082.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TRERF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRERF1 Gene

Post-translational modifications for TRERF1 Gene

  • Ubiquitination at Lys 72 and Lys 812
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TRERF1 Gene

Domains & Families for TRERF1 Gene

Gene Families for TRERF1 Gene

Suggested Antigen Peptide Sequences for TRERF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PN7

UniProtKB/Swiss-Prot:

TREF1_HUMAN :
  • Contains 1 ELM2 domain.
  • Contains 3 C2H2-type zinc fingers.
Domain:
  • Contains 1 ELM2 domain.
  • Contains 1 SANT domain.
Similarity:
  • Contains 3 C2H2-type zinc fingers.
genes like me logo Genes that share domains with TRERF1: view

Function for TRERF1 Gene

Molecular function for TRERF1 Gene

UniProtKB/Swiss-Prot Function:
Binds DNA and activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1.

Gene Ontology (GO) - Molecular Function for TRERF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001104 RNA polymerase II transcription cofactor activity NAS 11349124
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 11349124
GO:0008134 transcription factor binding IPI 11349124
genes like me logo Genes that share ontologies with TRERF1: view
genes like me logo Genes that share phenotypes with TRERF1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TRERF1 Gene

Localization for TRERF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRERF1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRERF1 gene
Compartment Confidence
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for TRERF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 histone deacetylase complex IBA --
GO:0005634 nucleus IEA,IDA 11349124
GO:0005667 transcription factor complex IBA --
genes like me logo Genes that share ontologies with TRERF1: view

Pathways & Interactions for TRERF1 Gene

SuperPathways for TRERF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TRERF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0006694 steroid biosynthetic process NAS 11349124
GO:0006707 cholesterol catabolic process NAS 11349124
genes like me logo Genes that share ontologies with TRERF1: view

No data available for Pathways by source and SIGNOR curated interactions for TRERF1 Gene

Drugs & Compounds for TRERF1 Gene

(1) Additional Compounds for TRERF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TRERF1: view

Transcripts for TRERF1 Gene

Unigene Clusters for TRERF1 Gene

Transcriptional regulating factor 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRERF1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d ^ 13a · 13b
SP1:
SP2: -
SP3:
SP4: - -
SP5:
SP6:
SP7:

Relevant External Links for TRERF1 Gene

GeneLoc Exon Structure for
TRERF1
ECgene alternative splicing isoforms for
TRERF1

Expression for TRERF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRERF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TRERF1 Gene

This gene is overexpressed in CD8 Tcells (36.8), CD4 Tcells (22.7), and Fetal testis (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRERF1 Gene



Protein tissue co-expression partners for TRERF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TRERF1 Gene:

TRERF1

SOURCE GeneReport for Unigene cluster for TRERF1 Gene:

Hs.485392

mRNA Expression by UniProt/SwissProt for TRERF1 Gene:

Q96PN7-TREF1_HUMAN
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.
genes like me logo Genes that share expression patterns with TRERF1: view

Primer Products

No data available for mRNA differential expression in normal tissues for TRERF1 Gene

Orthologs for TRERF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRERF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRERF1 34 35
  • 97.33 (n)
dog
(Canis familiaris)
Mammalia TRERF1 34 35
  • 90 (n)
cow
(Bos Taurus)
Mammalia TRERF1 34 35
  • 89.59 (n)
mouse
(Mus musculus)
Mammalia Trerf1 34 16 35
  • 87.41 (n)
rat
(Rattus norvegicus)
Mammalia Trerf1 34
  • 87.32 (n)
oppossum
(Monodelphis domestica)
Mammalia TRERF1 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRERF1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRERF1 34 35
  • 68.41 (n)
lizard
(Anolis carolinensis)
Reptilia TRERF1 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trerf1 34
  • 60.16 (n)
zebrafish
(Danio rerio)
Actinopterygii BX000363.2 35
  • 27 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG16779 35
  • 6 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea saeg-1 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for TRERF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRERF1 Gene

ENSEMBL:
Gene Tree for TRERF1 (if available)
TreeFam:
Gene Tree for TRERF1 (if available)

Paralogs for TRERF1 Gene

Paralogs for TRERF1 Gene

(1) SIMAP similar genes for TRERF1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TRERF1: view

Variants for TRERF1 Gene

Sequence variations from dbSNP and Humsavar for TRERF1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000229 -- 42,279,136(-) GCCCT(A/G)TATTG intron-variant
rs1000230 -- 42,278,308(-) AACAT(A/C)GCCTC intron-variant
rs1004338 -- 42,281,743(+) CCAGC(A/G)TGGCA intron-variant
rs1038890 -- 42,401,570(+) TATCC(A/G)CCCCA intron-variant
rs1039866 -- 42,386,236(-) GATAA(C/T)ATGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TRERF1 Gene

Variant ID Type Subtype PubMed ID
esv2226832 CNV deletion 18987734
esv2662164 CNV deletion 23128226
esv2731985 CNV deletion 23290073
esv2731986 CNV deletion 23290073
esv2731987 CNV deletion 23290073
esv3608799 CNV loss 21293372
esv3890843 CNV gain 25118596
nsv1073974 CNV deletion 25765185
nsv5279 CNV deletion 18451855
nsv830649 CNV loss 17160897
nsv950168 CNV deletion 24416366

Variation tolerance for TRERF1 Gene

Residual Variation Intolerance Score: 44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.57; 77.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRERF1 Gene

Human Gene Mutation Database (HGMD)
TRERF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRERF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRERF1 Gene

Disorders for TRERF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TRERF1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
swayback
  • swayback of sheep
estrogen resistance
  • estrogen insensitivity
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TRERF1

Genetic Association Database (GAD)
TRERF1
Human Genome Epidemiology (HuGE) Navigator
TRERF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRERF1
genes like me logo Genes that share disorders with TRERF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRERF1 Gene

Publications for TRERF1 Gene

  1. A novel zinc finger protein TReP-132 interacts with CBP/p300 to regulate human CYP11A1 gene expression. (PMID: 11349124) Gizard F. … Hum D.W. (J. Biol. Chem. 2001) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Direct binding of TReP-132 with TdT results in reduction of TdT activity. (PMID: 16371131) Fujisaki S. … Koiwai O. (Genes Cells 2006) 3 4 64
  5. TReP-132 controls cell proliferation by regulating the expression of the cyclin-dependent kinase inhibitors p21WAF1/Cip1 and p27Kip1. (PMID: 15899840) Gizard F. … Hum D.W. (Mol. Cell. Biol. 2005) 3 22 64

Products for TRERF1 Gene

Sources for TRERF1 Gene

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