BRIX1 biogenesis of ribosomes BRX1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BRIX1provided by HGNC
Official Full Name: biogenesis of ribosomes BRX1provided by HGNC
Primary source: HGNC:HGNC:24170
See related: Ensembl:ENSG00000113460 MIM:618466; AllianceGenome:HGNC:24170
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: BRIX; BXDC2
Summary: Enables RNA binding activity. Predicted to be involved in ribosomal large subunit assembly. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta (RPKM 18.1), bone marrow (RPKM 18.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (34915711..34925996)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (35162745..35173028)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (34915816..34926101)

Chromosome 5 - NC_000005.10 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?

BRIX1 promotes ribosome synthesis and enhances glycolysis by selected translation of GLUT1 in colorectal cancer.
Title: BRIX1 promotes ribosome synthesis and enhances glycolysis by selected translation of GLUT1 in colorectal cancer.

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

D8S2279 (e-PCR)
- UniSTS:473907

EST25A6 (e-PCR)
- UniSTS:263274

RH36905 (e-PCR)
- UniSTS:87932

BRIX__4467 (e-PCR)
- UniSTS:463240

RH94085 (e-PCR)
- UniSTS:87181

csnprad1-pcr1-1 (e-PCR)
- UniSTS:243114

BXDC2 (e-PCR)
- UniSTS:505784

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables rRNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info
involved_in ribosomal large subunit assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: ribosome biogenesis protein BRX1 homolog

Names: BRX1, biogenesis of ribosomes, homolog; brix domain containing 2; brix domain-containing protein 2

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.