BRDT (bromodomain testis associated)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 676
Gene name Bromodomain testis associated
Gene symbol BRDT
Synonyms (NCBI Gene)
BRD6CT9SPGF21
Chromosome 1
Chromosome location 1p22.1
Summary 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 bromodom
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs754258809 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT023817 hsa-miR-1-3p Microarray 18668037
MIRT029810 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (36)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0003682 Function Chromatin binding IBA
GO:0003713 Function Transcription coactivator activity TAS 10365964
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602144 1105 ENSG00000137948
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q58F21
Protein name Bromodomain testis-specific protein (Cancer/testis antigen 9) (CT9) (RING3-like protein)
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 (PubMed:22464331, PubMed:22901802). Required in late pachytene sperm
PDB 2RFJ , 4FLP , 4KCX , 5VBQ , 5VBR , 7BJY , 7L73 , 7L99 , 7L9A , 7LEJ , 7LEK , 7LEL , 7LEM , 7MRC , 7MRD , 7MRG , 7MRH , 7UBO , 7UUU , 8CZA , 8YHS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00439 Bromodomain 35 → 121 Bromodomain Domain
PF00439 Bromodomain 276 → 364 Bromodomain Domain
PF17035 BET 509 → 573 Bromodomain extra-terminal - transcription regulation Domain
PF17105 BRD4_CDT 904 → 947 C-terminal domain of bromodomain protein 4 Family
Tissue specificity 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,
Sequence 
MSLPSRQTAIIVNPPPPEYINTKKNGRLTNQLQYLQKVVLKDLWKHSFSWPFQRPVDAVK
LQLPDYYTIIKNPMDLNTIKKRLENKYYAKASECIEDFNTMFSNCYLYNKPGDDIVLMAQ
ALEKLFMQKLSQMPQEEQVVGVKERIKKGTQQNIAVSSAKEKSSPSATEKVFKQQEIPSV
FPKTSISPLNVVQGASVNSSSQTAAQVTKGVKRKADTTTPATSAVKASSEFSPTFTEKSV
ALPPIKENMPKNVLPDSQQQYNVVKTVKVTEQLRHCSEILKEMLAKKHFSYAWPFYNPVD
VNALGLHNYYDVVKNPMDLGTIKEKMDNQEYKDAYKFAADVRLMFMNCYKYNPPDHEVVT
MARMLQDVFETHFSKIPIEPVESMPLCYIKTDITETTGRENTNEASSEGNSSDDSEDERV
KRLAKLQEQLKAVHQQLQVLSQVPFRKLNKKKEKSKKEKKKEKVNNSNENPRKMCEQMRL
KEKSKRNQPKKRKQQFIGLKSEDEDNAKPMNYDEKRQLSLNINKLPGDKLGRVVHIIQSR
EPSLSNSNPDEIEIDFETLKASTLRELEKYVSACLRKRPLKPPAKKIMMSKEELHSQKKQ
ELEKRLLDVNNQLNSRKRQTKSDKTQPSKAVENVSRLSESSSSSSSSSESESSSSDLSSS
DSSDSESEMFPKFTEVKPNDSPSKENVKKMKNECIPPEGRTGVTQIGYCVQDTTSANTTL
VHQTTPSHVMPPNHHQLAFNYQELEHLQTVKNISPLQILPPSGDSEQLSNGITVMHPSGD
SDTTMLESECQAPVQKDIKIKNADSWKSLGKPVKPSGVMKSSDELFNQFRKAAIEKEVKA
RTQELIRKHLEQNTKELKASQENQRDLGNGLTVESFSNKIQNKCSGEEQKEHQQSSEAQD
KSKLWLLKDRDLARQKEQERRRREAMVGTIDMTLQSDIMTMFENNFD
Sequence length 947
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Premature ovarian failure Pathogenic rs1188709614 RCV001270186
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BRDT-related disorder Likely benign rs780337264, rs371876510, rs112610764 RCV003916965
RCV003961366
RCV003954377
Clear cell carcinoma of kidney Uncertain significance rs771177481 RCV005939081
Spermatogenic failure 21 Uncertain significance rs754258809 RCV000504573
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arrest of spermatogenesis Associate 40454210
Esophageal Squamous Cell Carcinoma Associate 33658703
Leukemia Myelogenous Chronic BCR ABL Positive Associate 34913480
Neoplasms Associate 33658703, 35867655
Spermatogenic Failure Nonobstructive Y Linked Associate 24865796