InnateDB Protein
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IDBP-77718.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TDRD7
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Protein Name
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tudor domain containing 7
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Synonyms
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CATC4; CTRCT36; PCTAIRE2BP; TRAP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000347444
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InnateDB Gene
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IDBG-77714 (TDRD7)
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Protein Structure
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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. {ECO:0000269PubMed:21436445}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:21436445}. 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). {ECO:0000250}.
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Disease Associations |
Cataract 36 (CTRCT36) [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. {ECO:0000269PubMed:21436445}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
9
[view]
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Protein-Protein |
9
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002999
Tudor domain
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PFAM |
PF00567
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PRINTS |
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PIRSF |
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SMART |
SM00333
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TIGRFAMs |
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Modification |
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SwissProt |
Q8NHU6
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PhosphoSite |
PhosphoSite-Q8NHU6
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
23424
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UniGene |
Hs.193842
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RefSeq |
NP_055105
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HUGO |
HGNC:30831
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OMIM |
611258
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CCDS |
CCDS6725
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HPRD |
11626
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IMGT |
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EMBL |
AB025254
AK294488
AK301954
AK314853
AL122110
AL449464
AL512590
BC028694
CH471105
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GenPept |
AAH28694
BAA76379
BAG37370
BAG57710
BAG63369
CAB59271
CAH71605
CAI14933
EAW58844
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