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MYO5C | myosin VC; May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues (1742 aa) | |||
UBE2R2 | ubiquitin-conjugating enzyme E2R 2; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes monoubiquitination and ’Lys-48’-linked polyubiquitination. May be involved in degradation of katenin (238 aa) | |||
CIB3 | calcium and integrin binding family member 3 (187 aa) | |||
CWF19L2 | CWF19-like 2, cell cycle control (S. pombe) (894 aa) | |||
NEIL2 | nei endonuclease VIII-like 2 (E. coli); Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Has DNA glycosylase activity towards 5-hydroxyuracil and other oxidized derivatives of cytosine with a preference for mismatched double stranded DNA (DNA bubbles). Has low or no DNA glycosylase activity towards thymine glycol, 2-hydroxyadenine, hypoxanthine and 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the r [...] (332 aa) | |||
MYO5B | myosin VB; May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis (By similarity) (1848 aa) | |||
APPL1 | adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1; Required for the regulation of cell proliferation in response to extracellular signals from an early endosomal compartment. Links Rab5 to nuclear signal transduction (709 aa) | |||
BPTF | bromodomain PHD finger transcription factor; Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on ’Lys-4’ (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors (2920 aa) | |||
CKS1B | CDC28 protein kinase regulatory subunit 1B; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function (79 aa) | |||
MID1 | midline 1 (Opitz/BBB syndrome); Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination (667 aa) | |||
TCEANC | transcription elongation factor A (SII) N-terminal and central domain containing (381 aa) | |||
MEOX1 | mesenchyme homeobox 1; Role in mesoderm induction and its earliest regional specification, somitogenesis, and myogenic and sclerotomal differentiation (By similarity) (254 aa) | |||
RANBP3 | RAN binding protein 3; Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. Bound to XPO1/CRM1, stabilizes the XPO1/CRM1-cargo interaction. In the absence of Ran-bound GTP prevents binding of XPO1/CRM1 to the nuclear pore complex. Binds to CHC1/RCC1 and increases the guanine nucleotide exchange activity of CHC1/RCC1. Recruits XPO1/CRM1 to CHC1/RCC1 in a Ran-dependent manner. Negative regulator of TGF- beta signaling through interaction with the R-SMAD proteins, SMAD2 and SMAD3, and mediating their nuclear export (567 aa) | |||
HTT | huntingtin; May play a role in microtubule-mediated transport or vesicle function (3142 aa) | |||
SYT17 | synaptotagmin XVII (474 aa) | |||
QRICH1 | glutamine-rich 1 (776 aa) | |||
SOX10 | SRY (sex determining region Y)-box 10; Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP. Could confer cell specificity to the function of other transcription factors in developing and mature glia (By similarity) (466 aa) | |||
PARK2 | parkinson protein 2, E3 ubiquitin protein ligase (parkin) (465 aa) | |||
PAGE3 | P antigen family, member 3 (prostate associated) (113 aa) | |||
PAX3 | paired box 3 (505 aa) | |||
PAX1 | paired box 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) (534 aa) | |||
MYO5A | myosin VA (heavy chain 12, myoxin); Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation (1855 aa) | |||
UBXN2B | UBX domain protein 2B; Adapter protein required for Golgi and endoplasmic reticulum biogenesis. Involved in Golgi and endoplasmic reticulum maintenance during interphase and in their reassembly at the end of mitosis. The complex formed with VCP has membrane fusion activity; membrane fusion activity requires USO1-GOLGA2 tethering and BET1L. VCPIP1 is also required, but not its deubiquitinating activity (331 aa) | |||
MAPK9 | mitogen-activated protein kinase 9 (424 aa) | |||
CIAO1 | cytosolic iron-sulfur protein assembly 1; Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to specifically modulate the transactivation activity of WT1. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation (339 aa) | |||
OBSCN | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (8678 aa) |