Human Gene BRIX1 (ENST00000336767.6_4) from GENCODE V47lift37

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Description: biogenesis of ribosomes BRX1 (from RefSeq NM_018321.4)
Gencode Transcript: ENST00000336767.6_4
Gencode Gene: ENSG00000113460.13_7
Transcript (Including UTRs)
Position: hg19 chr5:34,915,816-34,926,101 Size: 10,286 Total Exon Count: 10 Strand: +
Coding Region
Position: hg19 chr5:34,915,844-34,925,600 Size: 9,757 Coding Exon Count: 10

Page Index	Sequence and Links	UniProtKB Comments	Primers	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr5:34,915,816-34,926,101)			mRNA (may differ from genome)		Protein (353 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	MGI	OMIM	PubMed	UniProtKB	Wikipedia
BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: BRX1_HUMAN DESCRIPTION: RecName: Full=Ribosome biogenesis protein BRX1 homolog; AltName: Full=Brix domain-containing protein 2; FUNCTION: Required for biogenesis of the 60S ribosomal subunit. SUBCELLULAR LOCATION: Nucleus, nucleolus. SIMILARITY: Belongs to the BRX1 family. SIMILARITY: Contains 1 Brix domain.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene C016403 2,4-dinitrotoluene D019256 Cadmium Chloride D002117 Calcitriol D004958 Estradiol D005472 Fluorouracil D009532 Nickel D011374 Progesterone D013739 Testosterone D013749 Tetrachlorodibenzodioxin D014415 Tunicamycin D014635 Valproic Acid C006253 pirinixic acid C045950 propiconazole C012589 trichostatin A

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 41.25 RPKM in Cells - Cultured fibroblasts Total median expression: 621.83 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-7.00	28	-0.250	Picture	PostScript	Text
3' UTR	-96.80	501	-0.193	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR004154 - Anticodon-bd
IPR007109 - Brix
IPR026532 - BRX1

Pfam Domains:
PF04427 - Brix domain

SCOP Domains:
52954 - Class II aaRS ABD-related

ModBase Predicted Comparative 3D Structure on Q8TDN6


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	Genome Browser	Genome Browser
Gene Details	Gene Details		Gene Details	Gene Details	Gene Details
Gene Sorter	Gene Sorter		Gene Sorter	Gene Sorter	Gene Sorter
	RGD	Ensembl		WormBase	SGD
				Protein Sequence	Protein Sequence
				Alignment	Alignment

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0003723 RNA binding Biological Process: GO:0000027 ribosomal large subunit assembly GO:0042254 ribosome biogenesis Cellular Component: GO:0005634 nucleus GO:0005730 nucleolus

Descriptions from all associated GenBank mRNAs


	BC036741 - Homo sapiens brix domain containing 2, mRNA (cDNA clone MGC:45062 IMAGE:5107954), complete cds. AK303311 - Homo sapiens cDNA FLJ57871 complete cds, highly similar to Brix domain-containing protein 2. LF210227 - JP 2014500723-A/17730: Polycomb-Associated Non-Coding RNAs. AK001962 - Homo sapiens cDNA FLJ11100 fis, clone PLACE1005550. BC006014 - Homo sapiens brix domain containing 2, mRNA (cDNA clone IMAGE:3683425), partial cds. BC001546 - Homo sapiens brix domain containing 2, mRNA (cDNA clone MGC:4924 IMAGE:3462041), complete cds. BX648902 - Homo sapiens mRNA; cDNA DKFZp686F16258 (from clone DKFZp686F16258). AK289610 - Homo sapiens cDNA FLJ76585 complete cds, highly similar to Homo sapiens brix domain containing 2 (BXDC2), mRNA. DQ895302 - Synthetic construct Homo sapiens clone IMAGE:100009762; FLH183099.01L; RZPDo839F12139D brix domain containing 2 (BXDC2) gene, encodes complete protein. DQ892108 - Synthetic construct clone IMAGE:100004738; FLH183103.01X; RZPDo839F12140D brix domain containing 2 (BXDC2) gene, encodes complete protein. AY364243 - Homo sapiens clone peg2048 BRIX (BRIX) mRNA, complete cds. AY364244 - Homo sapiens clone peg2280 BRIX (BRIX) mRNA, complete cds. AF347667 - Homo sapiens BRIX mRNA, complete cds. LF336006 - JP 2014500723-A/143509: Polycomb-Associated Non-Coding RNAs. LF336001 - JP 2014500723-A/143504: Polycomb-Associated Non-Coding RNAs. AK307492 - Homo sapiens cDNA, FLJ97440. LF335999 - JP 2014500723-A/143502: Polycomb-Associated Non-Coding RNAs. LF335998 - JP 2014500723-A/143501: Polycomb-Associated Non-Coding RNAs. LF335996 - JP 2014500723-A/143499: Polycomb-Associated Non-Coding RNAs. JD551384 - Sequence 532408 from Patent EP1572962. LF335995 - JP 2014500723-A/143498: Polycomb-Associated Non-Coding RNAs. MA445804 - JP 2018138019-A/17730: Polycomb-Associated Non-Coding RNAs. MA571583 - JP 2018138019-A/143509: Polycomb-Associated Non-Coding RNAs. MA571578 - JP 2018138019-A/143504: Polycomb-Associated Non-Coding RNAs. MA571576 - JP 2018138019-A/143502: Polycomb-Associated Non-Coding RNAs. MA571575 - JP 2018138019-A/143501: Polycomb-Associated Non-Coding RNAs. MA571573 - JP 2018138019-A/143499: Polycomb-Associated Non-Coding RNAs. MA571572 - JP 2018138019-A/143498: Polycomb-Associated Non-Coding RNAs.

Other Names for This Gene


	Alternate Gene Symbols: A8K0P5, BRIX, BRX1_HUMAN, BXDC2, ENST00000336767.1, ENST00000336767.2, ENST00000336767.3, ENST00000336767.4, ENST00000336767.5, NM_018321, Q3ZTT4, Q8N453, Q8TDN6, Q96DH1, uc317upl.1, uc317upl.2 UCSC ID: ENST00000336767.6_4 RefSeq Accession: NM_018321.4 Protein: Q8TDN6 (aka BRX1_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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