Human Gene BRDT (ENST00000399546.7) from GENCODE V44
  Description: Homo sapiens bromodomain testis associated (BRDT), transcript variant 1, mRNA. (from RefSeq NM_207189)
RefSeq Summary (NM_207189): BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011].
Gencode Transcript: ENST00000399546.7
Gencode Gene: ENSG00000137948.19
Transcript (Including UTRs)
   Position: hg38 chr1:91,949,401-92,014,421 Size: 65,021 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg38 chr1:91,962,755-92,014,274 Size: 51,520 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:91,949,401-92,014,421)mRNA (may differ from genome)Protein (947 aa)
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-  Comments and Description Text from UniProtKB
  ID: BRDT_HUMAN
DESCRIPTION: RecName: Full=Bromodomain testis-specific protein; AltName: Full=Cancer/testis antigen 9; Short=CT9; AltName: Full=RING3-like protein;
FUNCTION: Testis-specific chromatin protein that specifically binds histone H4 acetylated at 'Lys-5' and 'Lys-8' (H4K5ac and H4K8ac, respectively) and plays a key role in spermatogenesis. Required in late pachytene spermatocytes: plays a role in meiotic and post-meiotic cells by binding to acetylated histones at the promoter of specific meiotic and post-meiotic genes, facilitating their activation at the appropriate time. In the post-meiotic phase of spermatogenesis, binds to hyperacetylated histones and participates in their general removal from DNA. Also acts as a component of the splicing machinery in pachytene spermatocytes and round spermatids and participates in 3'-UTR truncation of specific mRNAs in post-meiotic spermatids. Required for chromocenter organization, a structure comprised of peri-centromeric heterochromatin.
SUBUNIT: Interacts with mRNA splicing machinery proteins SRSF2, DDX5, HNRNPK and TARDBP. Interacts with the acetylated N-terminus of histone H1, H2, H3 and H4. Interacts with P-TEFb components CDK9 and CCNT1/cyclin-T1. Interacts with SMARCE1 (By similarity). Interacts with the acetylated N-terminus of histone H1.4, H2A, H2B, H3 and H4.
SUBCELLULAR LOCATION: Nucleus. Note=Detected on chromatin.
TISSUE SPECIFICITY: Testis-specific. A 3-fold higher expression is seen in adult testis than in embryo testis. Expression seems to be correlated with histone H4 hyperacetylation during the haploid phase of spermatogenesis (spermiogenesis). No expression, or very low expression is seen in patients' testes with abnormal spermatogenesis. Expressed in cancers such as non-small cell lung cancer and squamous cell carcinomas of the head and neck as well as of esophagus, but not in melanoma or in cancers of the colon, breast, kidney and bladder.
DEVELOPMENTAL STAGE: Expressed in embryo testis.
DOMAIN: Bromo domains mediate interaction with histones that have acetylated lysine residues at specific positions (PubMed:22464331). Bromo domain 1 mediates binding with histone H4 acetylated at 'Lys-5' and 'Lys-8' (H4K5ac and H4K8ac, respectively) (PubMed:22901802).
MISCELLANEOUS: BRDT is a promising target for male contraception. Inhibition by thienodiazepine inhibitor (+)-JQ1 that binds Asn- 109, prevents recognition of acetylated histone H4, causing a complete and reversible contraceptive effect in male mice (PubMed:22901802).
SIMILARITY: Contains 2 bromo domains.
SIMILARITY: Contains 1 NET domain.
SEQUENCE CAUTION: Sequence=AAH05281.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH47900.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH62700.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

-  Primer design for this transcript
 

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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.
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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


-  MalaCards Disease Associations
  MalaCards Gene Search: BRDT
Diseases sorted by gene-association score: spermatogenic failure 21* (950), retinitis pigmentosa 30 (12), nut midline carcinoma (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.01 RPKM in Testis
Total median expression: 52.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -108.70319-0.341 Picture PostScript Text
3' UTR -18.30147-0.124 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
IPR001487 - Bromodomain
IPR018359 - Bromodomain_CS

Pfam Domains:
PF00439 - Bromodomain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2RFJ - X-ray MuPIT 4FLP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q58F21
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-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003713 transcription coactivator activity
GO:0042393 histone binding
GO:0070577 lysine-acetylated histone binding

Biological Process:
GO:0001207 histone displacement
GO:0006325 chromatin organization
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006397 mRNA processing
GO:0007140 male meiosis
GO:0007141 male meiosis I
GO:0007283 spermatogenesis
GO:0008380 RNA splicing
GO:0030154 cell differentiation
GO:0043484 regulation of RNA splicing
GO:0051039 positive regulation of transcription involved in meiotic cell cycle
GO:0051321 meiotic cell cycle

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AY338951 - Homo sapiens testis-specific BRDT protein mRNA, complete cds.
AK316442 - Homo sapiens cDNA, FLJ79341 complete cds, highly similar to Bromodomain testis-specific protein.
AK303008 - Homo sapiens cDNA FLJ55453 complete cds, highly similar to Bromodomain testis-specific protein.
AK302758 - Homo sapiens cDNA FLJ50304 complete cds, highly similar to Bromodomain testis-specific protein.
BX648135 - Homo sapiens mRNA; cDNA DKFZp686P0940 (from clone DKFZp686P0940).
AF019085 - Homo sapiens bromodomain protein (BRDT) mRNA, complete cds.
AB463450 - Synthetic construct DNA, clone: pF1KB9767, Homo sapiens BRDT gene for bromodomain, testis-specific, without stop codon, in Flexi system.
BC111927 - Synthetic construct Homo sapiens clone IMAGE:40080742, MGC:133455 BRDT protein (BRDT) mRNA, encodes complete protein.
BC118498 - Synthetic construct Homo sapiens clone IMAGE:40080758, MGC:155331 BRDT protein (BRDT) mRNA, encodes complete protein.
BC017582 - Homo sapiens bromodomain, testis-specific, mRNA (cDNA clone IMAGE:4829746), partial cds.
BC047900 - Homo sapiens bromodomain, testis-specific, mRNA (cDNA clone IMAGE:5169324), partial cds.
BC062700 - Homo sapiens bromodomain, testis-specific, mRNA (cDNA clone IMAGE:6617741), partial cds.
BC005281 - Homo sapiens bromodomain, testis-specific, mRNA (cDNA clone IMAGE:3935291), partial cds.
BC028126 - Homo sapiens bromodomain, testis-specific, mRNA (cDNA clone IMAGE:5165009), partial cds.
BC038844 - Homo sapiens bromodomain, testis-specific, mRNA (cDNA clone IMAGE:5742670), partial cds.
JD109410 - Sequence 90434 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NF68, B7Z811, B7Z890, B7ZAX7, BRDT_HUMAN, D3DT32, ENST00000399546.1, ENST00000399546.2, ENST00000399546.3, ENST00000399546.4, ENST00000399546.5, ENST00000399546.6, NM_207189, O14789, Q05DQ4, Q58F21, Q6P5T1, Q7Z4A6, Q8IWI6, uc010osz.1, uc010osz.2, uc010osz.3, uc010osz.4
UCSC ID: ENST00000399546.7
RefSeq Accession: NM_207189
Protein: Q58F21 (aka BRDT_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.