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

Summary

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

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

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.
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.
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.
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.
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

STS-N22394 (e-PCR)
- UniSTS:4106

D11S2921 (e-PCR)
- UniSTS:152074

STS-N35713 (e-PCR)
- UniSTS:27986

D11S4436 (e-PCR)
- UniSTS:154716

RH28305 (e-PCR)
- UniSTS:87666

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-63523 (e-PCR)
- UniSTS:66167

STS-N66850 (e-PCR)
- UniSTS:17022

SHGC-36823 (e-PCR)
- UniSTS:13441

STS-T95820 (e-PCR)
- UniSTS:32163

GDB:335751 (e-PCR)
- UniSTS:156601

STS-N30903 (e-PCR)
- UniSTS:34507

TBRG1_2593 (e-PCR)
- UniSTS:281040

RH102935 (e-PCR)
- UniSTS:97269

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)

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

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

124622864..124635926

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047427747.1 → XP_047283703.1 transforming growth factor beta regulator 1 isoform X2
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
XM_047427748.1 → XP_047283704.1 transforming growth factor beta regulator 1 isoform X3
XM_047427749.1 → XP_047283705.1 transforming growth factor beta regulator 1 isoform X4

RNA

XR_007062515.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

124651510..124664584

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054370245.1 → XP_054226220.1 transforming growth factor beta regulator 1 isoform X2
XM_054370246.1 → XP_054226221.1 transforming growth factor beta regulator 1 isoform X2
XM_054370244.1 → XP_054226219.1 transforming growth factor beta regulator 1 isoform X1
XM_054370247.1 → XP_054226222.1 transforming growth factor beta regulator 1 isoform X3
XM_054370248.1 → XP_054226223.1 transforming growth factor beta regulator 1 isoform X4