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NEK9 | NIMA-related kinase 9; Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression. Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr-97 respectively (979 aa) | |||
MTERFD3 | MTERF domain containing 3; Binds promoter DNA and regulates mitochondrial transcription. Required for normal levels of transcription, both for mRNA and tRNA. Required for normal mitochondrial protein synthesis, assembly of respiratory complexes and normal mitochondrial function (By similarity) (385 aa) | |||
RCBTB1 | regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1; May be involved in cell cycle regulation by chromatin remodeling (531 aa) | |||
HERC2 | HECT and RLD domain containing E3 ubiquitin protein ligase 2 (4834 aa) | |||
ALS2 | amyotrophic lateral sclerosis 2 (juvenile); May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity) (1657 aa) | |||
HERC3 | HECT and RLD domain containing E3 ubiquitin protein ligase 3; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity) (1050 aa) | |||
HERC6 | HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 (1022 aa) | |||
HERC5 | HECT and RLD domain containing E3 ubiquitin protein ligase 5; Major E3 ligase for ISG15 conjugation. Acts as a positive regulator of innate antiviral response in cells induced by interferon. Makes part of the ISGylation machinery that recognizes target proteins in a broad and relatively non-specific manner. Catalyzes ISGylation of IRF3 which results in sustained activation, it attenuates IRF3-PIN1 interaction, which antagonizes IRF3 ubiquitination and degradation, and boosts the antiviral response. Catalyzes ISGylation of influenza A viral NS1 which attenuates virulence; ISGylated NS1 [...] (1024 aa) | |||
SERGEF | secretion regulating guanine nucleotide exchange factor; Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process (458 aa) | |||
HDGFRP3 | Hepatoma-derived growth factor-related protein 3 ; Enhances DNA synthesis and may play a role in cell proliferation (203 aa) | |||
IBTK | inhibitor of Bruton agammaglobulinemia tyrosine kinase (1353 aa) | |||
WBSCR16 | Williams-Beuren syndrome chromosome region 16 (464 aa) | |||
RCBTB2 | regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (551 aa) | |||
RCC1 | regulator of chromosome condensation 1; Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP. Involved in the regulation of onset of chromosome condensation in the S phase. Binds both to the nucleosomes and double-stranded DNA. RCC1-Ran complex (together with other proteins) acts as a component of a signal transmission pathway that detects unreplicated DNA. Plays a key role in nucleo- cytoplasmic transport, mitosis and nuclear-envelope assembly (452 aa) | |||
RCC2 | regulator of chromosome condensation 2; Required for completion of mitosis and cytokinesis. May function as a guanine nucleotide exchange factor for the small GTPase RAC1 (522 aa) | |||
RPGR | retinitis pigmentosa GTPase regulator (1152 aa) | |||
RCCD1 | RCC1 domain containing 1 (376 aa) | |||
HERC4 | HECT and RLD domain containing E3 ubiquitin protein ligase 4; Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates (By similarity) (1057 aa) | |||
HERC1 | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1; Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin- protein ligase which accepts ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (4861 aa) | |||
ENSG00000248919 | ATP5J2-PTCD1 readthrough (749 aa) | |||
HECTD4 | HECT domain containing E3 ubiquitin protein ligase 4 (4272 aa) | |||
PTCD1 | pentatricopeptide repeat domain 1; Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Affects also the 3’ processing of mitochondrial tRNAs (749 aa) |