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TBRG1 transforming growth factor beta regulator 1 [ Homo sapiens (human) ]

Gene ID: 84897, updated on 2-Nov-2024

Summary

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Official Symbol
TBRG1provided by HGNC
Official Full Name
transforming growth factor beta regulator 1provided by HGNC
Primary source
HGNC:HGNC:29551
See related
Ensembl:ENSG00000154144 MIM:610614; AllianceGenome:HGNC:29551
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NIAM; TB-5
Summary
Involved in several processes, including DNA replication; protein localization to nucleoplasm; and protein stabilization. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 12.4), spleen (RPKM 9.3) and 25 other tissues See more
Orthologs
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Genomic context

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See TBRG1 in Genome Data Viewer
Location:
11q24.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124622864..124635926)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124651510..124664584)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (124492760..124505822)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 8 subfamily Q member 1 pseudogene Neighboring gene uncharacterized LOC124902779 Neighboring gene pannexin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5688 Neighboring gene RNA, 5S ribosomal pseudogene 352 Neighboring gene sialic acid acetylesterase Neighboring gene ReSE screen-validated silencer GRCh37_chr11:124543663-124543821 Neighboring gene uncharacterized LOC124902780 Neighboring gene sperm autoantigenic protein 17

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The structure of the FYR domain of transforming growth factor beta regulator 1. García-Alai MM, et al. Protein Sci, 2010 Jul. PMID 20506279, Free PMC Article
  2. Inhibition of the miR-155 target NIAM phenocopies the growth promoting effect of miR-155 in B-cell lymphoma. Slezak-Prochazka I, et al. Oncotarget, 2016 Jan 19. PMID 26497687, Free PMC Article
  3. Generation and characterization of monoclonal antibodies to NIAM: a nuclear interactor of ARF and Mdm2. Hagen J, et al. Hybridoma (Larchmt), 2008 Jun. PMID 18582208, Free PMC Article
  4. Nuclear interactor of ARF and Mdm2 regulates multiple pathways to activate p53. Reed SM, et al. Cell Cycle, 2014. PMID 24621507, Free PMC Article
  5. A novel nuclear interactor of ARF and MDM2 (NIAM) that maintains chromosomal stability. Tompkins VS, et al. J Biol Chem, 2007 Jan 12. PMID 17110379

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In primary B-cell lymphoma NIAM-positive cases have significant lower levels of miR-155 as compared to NIAM-negative cases, suggesting that NIAM is regulated by miR-155 in primary B-cell lymphoma.
    Title: Inhibition of the miR-155 target NIAM phenocopies the growth promoting effect of miR-155 in B-cell lymphoma.
  2. NIAM regulates 2 critical pathways that control p53 function and are altered in human cancers, implying an important role for NIAM in tumorigenesis.
    Title: Nuclear interactor of ARF and Mdm2 regulates multiple pathways to activate p53.
  3. Sructure of a fragment of TBRG1 was shown to encompasses two motifs. The FYRN and FYRC regions each form part of a single folded module (the FYR domain), which adopts a novel alpha + beta fold.
    Title: The structure of the FYR domain of transforming growth factor beta regulator 1.
  4. NIAM is a nuclear interactor of ARF and Mdm2
    Title: Generation and characterization of monoclonal antibodies to NIAM: a nuclear interactor of ARF and Mdm2.
  5. novel protein with tumor suppressor-like behaviors and functional links to ARF-MDM2-p53 signaling
    Title: A novel nuclear interactor of ARF and MDM2 (NIAM) that maintains chromosomal stability.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14621, FLJ25020, FLJ90113, MGC129890

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to nucleoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transforming growth factor beta regulator 1
Names
nuclear interactor of ARF and MDM2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032811.3 → NP_116200.2  transforming growth factor beta regulator 1

    See identical proteins and their annotated locations for NP_116200.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer, protein-coding transcript.
    Source sequence(s)
    AP001524, DA292015, DQ144542
    Consensus CDS
    CCDS8448.2
    UniProtKB/Swiss-Prot
    Q3YBR2, Q53GJ5, Q66ZJ6, Q69YS7, Q8TCS4, Q8TEI4, Q96SV0
    Related
    ENSP00000409016.3, ENST00000441174.8
    Conserved Domains (2) summary
    pfam05964
    Location:189 → 238
    FYRN; F/Y-rich N-terminus
    pfam05965
    Location:244 → 319
    FYRC; F/Y rich C-terminus

RNA

  1. NR_016021.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. While variant 2 appears to be the predominant variant, it is likely that it does not encode a protein.
    Source sequence(s)
    AK027527, AP001524, DA292015
    Related
    ENST00000284290.8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    124622864..124635926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018442.3 → XP_016873931.1  transforming growth factor beta regulator 1 isoform X2

    Conserved Domains (2) summary
    pfam05964
    Location:46 → 87
    FYRN; F/Y-rich N-terminus
    pfam05965
    Location:93 → 168
    FYRC; F/Y rich C-terminus

  2. XM_047427747.1 → XP_047283703.1  transforming growth factor beta regulator 1 isoform X2

  3. XM_005271709.5 → XP_005271766.1  transforming growth factor beta regulator 1 isoform X1

    Conserved Domains (2) summary
    pfam05964
    Location:51 → 91
    FYRN; F/Y-rich N-terminus
    pfam05965
    Location:97 → 172
    FYRC; F/Y rich C-terminus

  4. XM_047427748.1 → XP_047283704.1  transforming growth factor beta regulator 1 isoform X3

  5. XM_047427749.1 → XP_047283705.1  transforming growth factor beta regulator 1 isoform X4

RNA

  1. XR_007062515.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    124651510..124664584
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370245.1 → XP_054226220.1  transforming growth factor beta regulator 1 isoform X2

  2. XM_054370246.1 → XP_054226221.1  transforming growth factor beta regulator 1 isoform X2

  3. XM_054370244.1 → XP_054226219.1  transforming growth factor beta regulator 1 isoform X1

  4. XM_054370247.1 → XP_054226222.1  transforming growth factor beta regulator 1 isoform X3

  5. XM_054370248.1 → XP_054226223.1  transforming growth factor beta regulator 1 isoform X4

RNA

  1. XR_008488473.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3YBR2.1 GenPept UniProtKB/Swiss-Prot:Q3YBR2

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