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SHFM1 | split hand/foot malformation (ectrodactyly) type 1; Subunit of the 26S proteasome which plays a role in ubiquitin-dependent proteolysis (70 aa) | |||
CAPZB | capping protein (actin filament) muscle Z-line, beta; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. Plays a role in the regulation of cell morphology and cytoskeletal organization (277 aa) | |||
TXNL4B | thioredoxin-like 4B; Essential role in pre-mRNA splicing. Required in cell cycle progression for S/G(2) transition (149 aa) | |||
TXNL4A | thioredoxin-like 4A; Essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly (142 aa) | |||
MCM3AP | minichromosome maintenance complex component 3 associated protein; May be involved in the nuclear localization pathway of MCM3 (1980 aa) | |||
LUC7L | LUC7-like (S. cerevisiae); May bind to RNA via its Arg/Ser-rich domain (371 aa) | |||
PSMD6 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 6; Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins (389 aa) | |||
VPS35 | vacuolar protein sorting 35 homolog (S. cerevisiae) (796 aa) | |||
SNRPD1 | small nuclear ribonucleoprotein D1 polypeptide 16kDa; May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through nonspecific electrostatic contacts with RNA (119 aa) | |||
LSM1 | LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae); Plays a role in replication-dependent histone mRNA degradation. Binds specifically to the 3’-terminal U-tract of U6 snRNA (133 aa) | |||
LENG8 | leukocyte receptor cluster (LRC) member 8 (800 aa) | |||
SF3B2 | splicing factor 3b, subunit 2, 145kDa; Subunit of the splicing factor SF3B required for ’A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the ’E’ complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (895 aa) | |||
IMPDH2 | IMP (inosine 5’-monophosphate) dehydrogenase 2; Catalyzes the conversion of inosine 5’-phosphate (IMP) to xanthosine 5’-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors (514 aa) | |||
PCID2 | PCI domain containing 2 (399 aa) | |||
UBE4B | ubiquitination factor E4B; Binds to the ubiquitin moieties of preformed conjugates and catalyzes ubiquitin chain assembly in conjunction with E1, E2, and E3 (By similarity) (1302 aa) | |||
LUC7L2 | LUC7-like 2 (S. cerevisiae); May bind to RNA via its Arg/Ser-rich domain (392 aa) | |||
PSMD12 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 12; Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins (456 aa) | |||
SNX6 | sorting nexin 6; May be involved in several stages of intracellular trafficking. Promotes lysosomal degradation of CDKN1B (By similarity). Plays a role in retrograde protein transport from endosomes to the trans-Golgi network. May function as link between transport vesicles and dynactin. Negatively regulates retrograde transport of BACE1 from the cell surface to the trans-Golgi network. May contribute to transcription regulation (418 aa) | |||
TTC4 | tetratricopeptide repeat domain 4 (387 aa) | |||
ADPRHL2 | ADP-ribosylhydrolase like 2; Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by poly(ADP-ribose) glycohydrolase. Poly(ADP-ribose) metabolism may be required for maintenance of the normal function of neuronal cells. Generates ADP-ribose from poly-(ADP-ribose), but does not hydrolyze ADP- ribose-arginine, -cysteine, -diphthamide, or -asparagine bonds. Due to catalytic inactivity of PARG mitochondrial isoforms, ARH3 is the only PAR hydrolyzing enzyme in mitochondria (363 aa) | |||
SNX2 | sorting nexin 2; May be involved in several stages of intracellular trafficking. Component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R and M6PR) from endosomes to the trans-Golgi network. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (519 aa) | |||
SAC3D1 | SAC3 domain containing 1; Involved in centrosome duplication and mitotic progression (By similarity) (358 aa) | |||
DDX3X | DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked; Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo- and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double stranded DNA with a preference for 5’- single stranded DNA overhangs. Is involved in several steps of gene expression, such as transcription, mRNA maturation, mRNA export and translation. However, the exact mechanisms are not known and some functions may be specific for a subset of mRNAs. Involved in transcriptional regulation. Can [...] (662 aa) | |||
EID1 | EP300 interacting inhibitor of differentiation 1; Interacts with RB1 and EP300 and acts as a repressor of MYOD1 transactivation. Inhibits EP300 and CBP histone acetyltransferase activity. May be involved in coupling cell cycle exit to the transcriptional activation of genes required for cellular differentiation. May act as a candidate coinhibitory factor for NR0B2 that can be directly linked to transcription inhibitory mechanisms (187 aa) | |||
LSM4 | LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae); Binds specifically to the 3’-terminal U-tract of U6 snRNA (139 aa) | |||
SNRNP70 | small nuclear ribonucleoprotein 70kDa (U1) (437 aa) |