Aliases for TBRG1 Gene

Aliases for TBRG1 Gene

  • Transforming Growth Factor Beta Regulator 1 2 3 4 5
  • NIAM 2 3 4
  • Nuclear Interactor Of ARF And MDM2 2 3
  • TB-5 2 3
  • Nuclear Interactor Of ARF And Mdm2 4
  • FLJ14621 2
  • TBRG1 5

External Ids for TBRG1 Gene

Previous GeneCards Identifiers for TBRG1 Gene

  • GC11P126493
  • GC11P126006
  • GC11P124526
  • GC11P124030
  • GC11P123997
  • GC11P124492
  • GC11P120435

Summaries for TBRG1 Gene

GeneCards Summary for TBRG1 Gene

TBRG1 (Transforming Growth Factor Beta Regulator 1) is a Protein Coding gene. Diseases associated with TBRG1 include Acromicric Dysplasia and Geleophysic Dysplasia 1. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Apoptotic Pathways in Synovial Fibroblasts.

UniProtKB/Swiss-Prot Summary for TBRG1 Gene

  • Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into the nucleoplasm. Involved in maintaining chromosomal stability.

Gene Wiki entry for TBRG1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBRG1 Gene

Genomics for TBRG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBRG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J124622 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.2 165 3.2 BCLAF1 IKZF1 ZNF600 ZNF580 ATF2 POLR2A CEBPA YY1 MXD4 CEBPB TBRG1 STT3A ZNF202 TMEM218 MSANTD2 ROBO3 HSALNG0087895 HSALNG0087896 SPA17
GH11J125068 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 3.1 +449.6 449556 8.2 BCLAF1 SP1 MYC NCOR1 IKZF1 ZNF592 CEBPA NFIC ZIC2 NONO SLC37A2 CCDC15 TMEM218 KRT18P59 ENSG00000255475 ROBO4 HEPACAM ENSG00000254932 TBRG1 HSALNG0087935
GH11J124275 Enhancer 1.2 FANTOM5 Ensembl ENCODE 1.9 -345.8 -345835 2.8 NCOR1 ZNF592 NFIC HES1 BHLHE40 MBD2 ARNT RAD21 TAL1 RUNX1 VWA5A OR8G5 OR8D1 CCDC15 OR8G2P TBRG1 OR8B12 SLC5A4P1 HSALNG0087874 lnc-OR8G5-6
GH11J124177 Enhancer 0.5 FANTOM5 Ensembl 3.3 -445.2 -445235 1.2 SPI1 VWA5A TBRG1 OR8B12 OR10D3 lnc-OR8G5-6
GH11J124672 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 +50.8 50833 3.1 SP1 ZNF600 JUND POLR2A BRCA1 YY1 MXD4 SMAD5 SIN3A CHD2 SPA17 HSALNG0087899 SIAE NRGN lnc-SIAE-1 HSALNG0087898 TBRG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBRG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBRG1

Top Transcription factor binding sites by QIAGEN in the TBRG1 gene promoter:
  • AREB6
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Evi-1
  • ISGF-3
  • p53

Genomic Locations for TBRG1 Gene

Latest Assembly
chr11:124,622,836-124,635,926
(GRCh38/hg38)
Size:
13,091 bases
Orientation:
Plus strand

Previous Assembly
chr11:124,492,760-124,505,822
(GRCh37/hg19 by Entrez Gene)
Size:
13,063 bases
Orientation:
Plus strand

chr11:124,492,732-124,505,287
(GRCh37/hg19 by Ensembl)
Size:
12,556 bases
Orientation:
Plus strand

Genomic View for TBRG1 Gene

Genes around TBRG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBRG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBRG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBRG1 Gene

Proteins for TBRG1 Gene

  • Protein details for TBRG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3YBR2-TBRG1_HUMAN
    Recommended name:
    Transforming growth factor beta regulator 1
    Protein Accession:
    Q3YBR2
    Secondary Accessions:
    • Q53GJ5
    • Q66ZJ6
    • Q69YS7
    • Q8TCS4
    • Q8TEI4
    • Q96SV0

    Protein attributes for TBRG1 Gene

    Size:
    411 amino acids
    Molecular mass:
    44946 Da
    Quaternary structure:
    • Interacts with CDKN2A and MDM2.
    SequenceCaution:
    • Sequence=BAB84966.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TBRG1 Gene

    Alternative splice isoforms for TBRG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBRG1 Gene

Post-translational modifications for TBRG1 Gene

  • Ubiquitinated; mediated by MDM2 and leading to its subsequent proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBRG1 Gene

No data available for DME Specific Peptides for TBRG1 Gene

Domains & Families for TBRG1 Gene

Gene Families for TBRG1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TBRG1 Gene

InterPro:

Suggested Antigen Peptide Sequences for TBRG1 Gene

GenScript: Design optimal peptide antigens:
  • TBRG1 protein (Q05BL0_HUMAN)
  • TBRG1 protein (Q6GPH2_HUMAN)
  • cDNA FLJ25020 fis, clone CBL01662 (Q96LV8_HUMAN)
  • Nuclear interactor of ARF and Mdm2 (TBRG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3YBR2

UniProtKB/Swiss-Prot:

TBRG1_HUMAN :
  • Belongs to the TBRG1 family.
Family:
  • Belongs to the TBRG1 family.
genes like me logo Genes that share domains with TBRG1: view

Function for TBRG1 Gene

Molecular function for TBRG1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into the nucleoplasm. Involved in maintaining chromosomal stability.

Phenotypes From GWAS Catalog for TBRG1 Gene

Gene Ontology (GO) - Molecular Function for TBRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17110379
genes like me logo Genes that share ontologies with TBRG1: view
genes like me logo Genes that share phenotypes with TBRG1: view

miRNA for TBRG1 Gene

miRTarBase miRNAs that target TBRG1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBRG1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBRG1 Gene

Localization for TBRG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBRG1 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 TBRG1 gene
Compartment Confidence
nucleus 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17110379
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with TBRG1: view

Pathways & Interactions for TBRG1 Gene

PathCards logo

SuperPathways for TBRG1 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with TBRG1: view

Pathways by source for TBRG1 Gene

54 Qiagen pathways for TBRG1 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

Gene Ontology (GO) - Biological Process for TBRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IMP 17110379
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IMP 17110379
GO:0008285 negative regulation of cell proliferation IMP 17110379
GO:0050821 protein stabilization IMP 17110379
genes like me logo Genes that share ontologies with TBRG1: view

No data available for SIGNOR curated interactions for TBRG1 Gene

Drugs & Compounds for TBRG1 Gene

No Compound Related Data Available

Transcripts for TBRG1 Gene

mRNA/cDNA for TBRG1 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBRG1

Alternative Splicing Database (ASD) splice patterns (SP) for TBRG1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: - - - - - - - - -
SP2: - -
SP3: - - -
SP4: -
SP5:
SP6: -
SP7: - - - - - - - - - -
SP8:

Relevant External Links for TBRG1 Gene

GeneLoc Exon Structure for
TBRG1

Expression for TBRG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBRG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBRG1 Gene

This gene is overexpressed in Blymphocyte (61.7) and Placenta (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBRG1 Gene



Protein tissue co-expression partners for TBRG1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBRG1

SOURCE GeneReport for Unigene cluster for TBRG1 Gene:

Hs.436410

mRNA Expression by UniProt/SwissProt for TBRG1 Gene:

Q3YBR2-TBRG1_HUMAN
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 diffuse large B-cell lymphoma.

Evidence on tissue expression from TISSUES for TBRG1 Gene

  • Nervous system(4.9)
  • Kidney(4.3)
  • Spleen(4.3)
  • Pancreas(4.2)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with TBRG1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBRG1 Gene

Orthologs for TBRG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBRG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TBRG1 29 30
  • 99.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TBRG1 29 30
  • 91.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TBRG1 30
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tbrg1 29
  • 87.93 (n)
Mouse
(Mus musculus)
Mammalia Tbrg1 29 16 30
  • 87.77 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TBRG1 30
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 82 (a)
OneToMany
-- 30
  • 78 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia TBRG1 30
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tbrg1 29
  • 63.07 (n)
Str.7289 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.7342 29
Zebrafish
(Danio rerio)
Actinopterygii tbrg1 29 30
  • 65.95 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9934 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG31111 29 30
  • 49.37 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 43 (a)
OneToOne
Species where no ortholog for TBRG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for TBRG1 Gene

ENSEMBL:
Gene Tree for TBRG1 (if available)
TreeFam:
Gene Tree for TBRG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBRG1: view image
Alliance of Genome Resources:
Additional Orthologs for TBRG1

Paralogs for TBRG1 Gene

No data available for Paralogs for TBRG1 Gene

Variants for TBRG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBRG1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
993529 Uncertain Significance: none provided 124,632,236(+) T/C
NM_032811.3(TBRG1):c.1234T>C (p.Ter412Arg)
STOP_LOST,NON_CODING_TRANSCRIPT
996584 Likely Pathogenic: Intellectual disability 124,626,940(+) G/A
NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBRG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TBRG1 Gene

Variant ID Type Subtype PubMed ID
nsv1045156 CNV loss 25217958

Variation tolerance for TBRG1 Gene

Gene Damage Index Score: 3.63; 56.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBRG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBRG1
Leiden Open Variation Database (LOVD)
TBRG1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBRG1 Gene

Disorders for TBRG1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for TBRG1 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
acromicric dysplasia
  • acmicd
geleophysic dysplasia 1
  • gphysd1
geleophysic dysplasia 2
  • gphysd2
geleophysic dysplasia
  • geleophysic dwarfism
stiff skin syndrome
  • ssks
- elite association - COSMIC cancer census association via MalaCards
Search TBRG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TBRG1

genes like me logo Genes that share disorders with TBRG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBRG1 Gene

Publications for TBRG1 Gene

  1. A novel nuclear interactor of ARF and MDM2 (NIAM) that maintains chromosomal stability. (PMID: 17110379) Tompkins VS … Quelle DE (The Journal of biological chemistry 2007) 2 3 4
  2. The structure of the FYR domain of transforming growth factor beta regulator 1. (PMID: 20506279) García-Alai MM … Bycroft M (Protein science : a publication of the Protein Society 2010) 3 4
  3. Identification of novel ARF binding proteins by two-hybrid screening. (PMID: 16582619) Tompkins V … Quelle DE (Cell cycle (Georgetown, Tex.) 2006) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for TBRG1 Gene

Sources for TBRG1 Gene