Human Gene TDRD7 (ENST00000355295.5) from GENCODE V44
Description: Homo sapiens tudor domain containing 7 (TDRD7), transcript variant 1, mRNA. (from RefSeq NM_014290) RefSeq Summary (NM_014290): The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. Gencode Transcript: ENST00000355295.5 Gencode Gene: ENSG00000196116.8 Transcript (Including UTRs) Position: hg38 chr9:97,412,096-97,496,125 Size: 84,030 Total Exon Count: 17 Strand: + Coding Region Position: hg38 chr9:97,428,466-97,495,883 Size: 67,418 Coding Exon Count: 16
ID:TDRD7_HUMAN DESCRIPTION: RecName: Full=Tudor domain-containing protein 7; AltName: Full=PCTAIRE2-binding protein; AltName: Full=Tudor repeat associator with PCTAIRE 2; Short=Trap; FUNCTION: Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis. SUBUNIT: Found in a mRNP complex, at least composed of TDRD1, TDRD6, TDRD7 and DDX4. Found in a complex containing CABLES1, CDK16 and CDK17. Interacts with CABLES1, CDK17 and PIWIL1 (By similarity). INTERACTION: P42771:CDKN2A; NbExp=2; IntAct=EBI-624505, EBI-375053; O75410:TACC1; NbExp=4; IntAct=EBI-624505, EBI-624237; O75410-1:TACC1; NbExp=3; IntAct=EBI-624505, EBI-624252; SUBCELLULAR LOCATION: Cytoplasm. Note=Localizes to cytoplasmic RNA granules. Present in chromatoid body (CB) of spermatids (mammalian counterpart of germplasm, pole plasm or polar granules in Drosophila germ cells), also named processing bodies (P-bodies) in somatic cells. Detected in the multilobular cytoplasmic CBs (also called intermitochondrial cementin) in pachytene spermatocytes and as a single perinuclear CB in haploid round spermatids (By similarity). DISEASE: Defects in TDRD7 are the cause of cataract congenital autosomal recessive type 4 (CATC4) [MIM:613887]. An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. SIMILARITY: Belongs to the TDRD7 family. SIMILARITY: Contains 3 HTH OST-type domains. SIMILARITY: Contains 2 Tudor domains.
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.
ModBase Predicted Comparative 3D Structure on Q8NHU6
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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.
US Server
