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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
    mouse all
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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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    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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    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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