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MYH9 | myosin, heavy chain 9, non-muscle; Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping (1960 aa) | |||
DSC1 | desmocollin 1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues (894 aa) | |||
PCSK2 | proprotein convertase subtilisin/kexin type 2 (638 aa) | |||
ZBTB32 | zinc finger and BTB domain containing 32; DNA-binding protein that binds to the to a 5’- TGTACAGTGT-3’ core sequence. May function as a transcriptional transactivator and transcriptional repressor. Probably exerts its repressor effect by preventing GATA3 from binding to DNA. May play a role in regulating the differentiation and activation of helper T-cells (By similarity) (487 aa) | |||
PHLPP1 | PH domain and leucine rich repeat protein phosphatase 1; Protein phosphatase that mediates dephosphorylation of ’Ser-473’ of AKT1, ’Ser-660’ of PRKCB isoform beta-II and ’Ser- 657’ of PRKCA. AKT1 regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of ’Ser-473’ of AKT1 triggers apoptosis and suppression of tumor growth. Controls the phosphorylation of AKT2 and AKT3 more efficiently than that of AKT1. Dephosphorylation of PRKCA and PRKCB leads [...] (1717 aa) | |||
CSE1L | CSE1 chromosome segregation 1-like (yeast) (971 aa) | |||
PKP1 | plakophilin 1 (ectodermal dysplasia/skin fragility syndrome); Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis (747 aa) | |||
FANCD2 | Fanconi anemia, complementation group D2; Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induc [...] (1471 aa) | |||
ALDH16A1 | aldehyde dehydrogenase 16 family, member A1 (802 aa) | |||
WDR48 | WD repeat domain 48 (677 aa) | |||
KRT17 | keratin 17 (432 aa) | |||
FANCI | Fanconi anemia, complementation group I; Plays an essential role in the repair of DNA double- strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA- binds both single- stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage (1328 aa) | |||
CALML3 | calmodulin-like 3; May be similar to that of authentic calmodulin and may actually compete with calmodulin by binding, with different affinities, to cellular substrates (149 aa) | |||
USP1 | ubiquitin specific peptidase 1; Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2. Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA. Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity (785 aa) | |||
KPNA1 | karyopherin alpha 1 (importin alpha 5); Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alph [...] (538 aa) | |||
UBC | ubiquitin C (685 aa) | |||
ANXA2 | annexin A2; Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids (By similarity). It binds two calcium ions with high affinity (By similarity). May be involved in heat-stress response (By similarity) (357 aa) | |||
PHLPP2 | PH domain and leucine rich repeat protein phosphatase 2; Protein phosphatase that mediates dephosphorylation of ’Ser-473’ of AKT1, ’Ser-660’ of PRKCB isoform beta-II and ’Ser- 657’ of PRKCA. AKT1 regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of ’Ser-473’ of AKT1 triggers apoptosis and decreases cell proliferation. Also controls the phosphorylation of AKT3. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradati [...] (1323 aa) | |||
WDR5 | WD repeat domain 5; Contributes to histone modification. May position the N- terminus of histone H3 for efficient trimethylation at ’Lys-4’. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at ’Lys-4’ of histone H3. H3 ’Lys-4’ methylation represents a specific tag for epigenetic transcriptional activation. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. May regulate osteoblasts differentiation (334 aa) | |||
TAGLN2 | transgelin 2 (199 aa) | |||
FLG | filaggrin; Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis (4061 aa) | |||
VPS36 | vacuolar protein sorting 36 homolog (S. cerevisiae); Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. Its ability to bind ubiquitin probably plays a role in endosomal sorting of ubiquitinated cargo proteins by ESCRT complexes. The ESCRT-II compl [...] (386 aa) | |||
PCNA | proliferating cell nuclear antigen; Auxiliary protein of DNA polymerase delta and is involved in the control of eukaryotic DNA replication by increasing the polymerase’s processibility during elongation of the leading strand. Induces a robust stimulatory effect on the 3’- 5’ exonuclease and 3’-phosphodiesterase, but not apurinic- apyrimidinic (AP) endonuclease, APEX2 activities. Has to be loaded onto DNA in order to be able to stimulate APEX2. Plays a key role in DNA damage response (DDR) by being conveniently positioned at the replication fork to coordinate DNA replication with DNA re [...] (261 aa) | |||
CALML5 | calmodulin-like 5; Binds calcium. May be involved in terminal differentiation of keratinocytes (146 aa) | |||
FANCL | Fanconi anemia, complementation group L; Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth (380 aa) | |||
UNC45A | unc-45 homolog A (C. elegans); Acts as co-chaperone for HSP90. Prevents the stimulation of HSP90AB1 ATPase activity by AHSA1. Positive factor in promoting PGR function in the cell. May be necessary for proper folding of myosin (Potential). Necessary for normal cell proliferation. Necessary for normal myotube formation and myosin accumulation during muscle cell development. May play a role in erythropoiesis in stroma cells in the spleen (By similarity) (944 aa) |