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| ADAT2 | tRNA-specific adenosine deaminase 2; Probably participates in deamination of adenosine-34 to inosine in many tRNAs; Belongs to the cytidine and deoxycytidylate deaminase family. ADAT2 subfamily (191 aa) | |||
| ZC3H10 | Zinc finger CCCH domain-containing protein 10; Specific regulator of miRNA biogenesis. Binds, via the C3H1-type zinc finger domains, to the binding motif 5’-GCAGCGC-3’ on microRNA pri-MIR143 and negatively regulates the processing to mature microRNA; Zinc fingers CCCH-type (434 aa) | |||
| SCAP | Sterol regulatory element-binding protein cleavage-activating protein; Escort protein required for cholesterol as well as lipid homeostasis. Regulates export of the SCAP/SREBF complex from the ER upon low cholesterol. Formation of a ternary complex with INSIG at high sterol concentrations leads to masking of an ER-export signal in SCAP and retention of the complex in the ER. Low sterol concentrations trigger release of INSIG, a conformational change in the SSC domain of SCAP, unmasking of the ER export signal, recruitment into COPII-coated vesicles, transport to the Golgi complex, prot [...] (1279 aa) | |||
| FAM46B | Putative nucleotidyltransferase FAM46B; Probable nucleotidyltransferase that may act as a non- canonical poly(A) RNA polymerase (425 aa) | |||
| WNT1 | Proto-oncogene Wnt-1; Ligand for members of the frizzled family of seven transmembrane receptors. Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation. In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling. Probable developmental protein. May be a signaling molecule important in CNS development. Is likely to signal over only few cell diameters. Has a role in osteoblast function and bone development (370 aa) | |||
| SLC27A4 | Long-chain fatty acid transport protein 4; Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity); [...] (643 aa) | |||
| BNC1 | Zinc finger protein basonuclin-1; Transcriptional activator (By similarity). Likely specific for squamous epithelium and for the constituent keratinocytes at a stage either prior to or at the very beginning of terminal differentiation. Required for the maintenance of spermatogenesis (By similarity). May also play a role in the differentiation of oocytes and the early development of embryos (By similarity); Zinc fingers C2H2-type (994 aa) | |||
| PROP1 | Homeobox protein prophet of Pit-1; Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes; PRD class homeoboxes and pseudogenes (226 aa) | |||
| FAM46A | Putative nucleotidyltransferase FAM46A; Probable nucleotidyltransferase that may act as a non- canonical poly(A) RNA polymerase; Belongs to the FAM46 family (442 aa) | |||
| ADAT3 | Probable inactive tRNA-specific adenosine deaminase-like protein 3; Adenosine deaminase, tRNA specific 3; Belongs to the cytidine and deoxycytidylate deaminase family. ADAT3 subfamily (367 aa) | |||
| HMX2 | Homeobox protein HMX2; Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development; NKL subclass homeoboxes and pseudogenes (273 aa) | |||
| NFYA | Nuclear transcription factor Y subunit alpha; Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5’- CCAAT-3’ box motif found in the promoters of its target genes. NF- Y can function as both an activator and a repressor, depending on its interacting cofactors. NF-YA positively regulates the transcription of the core clock component ARNTL/BMAL1 (347 aa) | |||
| HMX3 | Homeobox protein HMX3; Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5’-CAAGTG-3’ core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS (By similarity); NKL subclass homeoboxes and pseudogenes (357 aa) | |||
| PAX9 | Paired box protein Pax-9; Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs; Paired boxes (341 aa) | |||
| RHOXF2 | Rhox homeobox family member 2; Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis; PRD class homeoboxes and pseudogenes (288 aa) | |||
| FRA10AC1 | Protein FRA10AC1; FRA10A associated CGG repeat 1; Spliceosomal C complex (315 aa) | |||
| ZNF503 | Zinc finger protein 503; May function as a transcriptional repressor; Zinc fingers C2H2-type (646 aa) | |||
| SMAP2 | Stromal membrane-associated protein 2; GTPase activating protein that acts on ARF1. Can also activate ARF6 (in vitro). May play a role in clathrin-dependent retrograde transport from early endosomes to the trans-Golgi network (By similarity); ArfGAPs (429 aa) | |||
| BNC2 | Zinc finger protein basonuclin-2; Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes; Zinc fingers C2H2-type (1099 aa) | |||
| SH2D2A | SH2 domain-containing protein 2A; Could be a T-cell-specific adapter protein involved in the control of T-cell activation. May play a role in the CD4-p56- LCK-dependent signal transduction pathway. Could also play an important role in normal and pathological angiogenesis. Could be an adapter protein that facilitates and regulates interaction of KDR with effector proteins important to endothelial cell survival and proliferation; SH2 domain containing (399 aa) | |||
| TBX6 | T-box transcription factor TBX6; T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells- neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity); T-boxes (436 aa) | |||
| PAX1 | Paired box protein Pax-1; This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity); Paired boxes (534 aa) | |||
| HMX1 | Homeobox protein HMX1; DNA-binding protein that binds to the 5’-CAAG-3’ core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear; NKL subclass homeoboxes and pseudogenes (348 aa) | |||
| SOX5 | Transcription factor SOX-5; Binds specifically to the DNA sequence 5’-AACAAT-3’. Activates transcription of COL2A1 and AGC1 in vitro; SRY-boxes (763 aa) | |||
| HMGA1 | High mobility group protein HMG-I/HMG-Y; HMG-I/Y bind preferentially to the minor groove of A+T rich regions in double-stranded DNA. It is suggested that these proteins could function in nucleosome phasing and in the 3’-end processing of mRNA transcripts. They are also involved in the transcription regulation of genes containing, or in close proximity to A+T-rich regions; Canonical high mobility group (107 aa) | |||
| USP10 | Ubiquitin carboxyl-terminal hydrolase 10; Hydrolase that can remove conjugated ubiquitin from target proteins such as p53/TP53, BECN1, SNX3 and CFTR. Acts as an essential regulator of p53/TP53 stability- in unstressed cells, specifically deubiquitinates p53/TP53 in the cytoplasm, leading to counteract MDM2 action and stabilize p53/TP53. Following DNA damage, translocates to the nucleus and deubiquitinates p53/TP53, leading to regulate the p53/TP53-dependent DNA damage response. Component of a regulatory loop that controls autophagy and p53/TP53 levels- mediates deubiquitination of BECN [...] (802 aa) | |||
