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This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene enco
FHIT (fragile histidine triad) cleaves adenosine 5' PPP 5' A to yield AMP and ADP. Alterations and deletions of the FHIT gene are strongly linked to the genesis and establishment of human tumors of the lung, cervix, breast, colon, stomach and pancreas. In normal cells, FHIT may act as a tumor suppressor. FHIT physically associates with ubiquitin conjugating enzyme 9.
DD1 is also designated AKR1C1, DDH or DDH1, while DD2 also can be designated AKR1C2, dDD, BABP or DDH2. AKR1C3 and 3alpha-HSD are alternate designations for human DD3 (which is referred to as AKR1C18 in rodents), while DD4 also can be called AKR1C4, CD, CHDR or AKR1C6 (in rodents). DD1 and DD2 are 20alpha-HSDs, whereas DD3 and DD4 are the 3alpha-HSDs. The multiple human cytosolic dihydrodiol dehydrogenases are involved in the metabolism of xenobiotics, such as polycyclic aromatic hydrocarbon