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| PSMD8 | 26S proteasome non-ATPase regulatory subunit 8; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair (350 aa) | |||
| RNASEH2A | Ribonuclease H2 subunit A; Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA-DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging- strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA-RNA duplexes; Belongs to the RNase HII family. Eukaryotic subfamily (299 aa) | |||
| RPA1 | Replication protein A 70 kDa DNA-binding subunit; As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruit [...] (616 aa) | |||
| MCM2 | DNA replication licensing factor MCM2; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for ’once per cell cycle’ DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] (904 aa) | |||
| WRN | Werner syndrome ATP-dependent helicase; Multifunctional enzyme that has both magnesium and ATP- dependent DNA-helicase activity and 3’->5’ exonuclease activity towards double-stranded DNA with a 5’-overhang. Has no nuclease activity towards single-stranded DNA or blunt-ended double- stranded DNA. Binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and Holliday junctions. May play an important role in the dissociation of joint DNA molecules that can arise as products of homologous recombination, at stalled replication forks or duri [...] (1432 aa) | |||
| CLEC3A | C-type lectin domain family 3 member A; Promotes cell adhesion to laminin-332 and fibronectin; C-type lectin domain containing (206 aa) | |||
| RNASEH1 | Ribonuclease H1; Endonuclease that specifically degrades the RNA of RNA- DNA hybrids. Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II; Belongs to the RNase H family (286 aa) | |||
| RECQL5 | ATP-dependent DNA helicase Q5; Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination; RecQ like helicases (991 aa) | |||
| POLE | DNA polymerase epsilon catalytic subunit A; Participates in DNA repair and in chromosomal DNA replication; Belongs to the DNA polymerase type-B family (2286 aa) | |||
| TOP1MT | DNA topoisomerase I, mitochondrial; Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3’-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5’-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, [...] (601 aa) | |||
| UBE2V1 | Ubiquitin-conjugating enzyme E2 variant 1; Has no ubiquitin ligase activity on its own. The UBE2V1- UBE2N heterodimer catalyzes the synthesis of non-canonical poly- ubiquitin chains that are linked through Lys-63. This type of poly-ubiquitination activates IKK and does not seem to involve protein degradation by the proteasome. Plays a role in the activation of NF-kappa-B mediated by IL1B, TNF, TRAF6 and TRAF2. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair [...] (170 aa) | |||
| ENSG00000124208 | TMEM189-UBE2V1 readthrough; Belongs to the ubiquitin-conjugating enzyme family (370 aa) | |||
| BLM | Bloom syndrome protein; ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3’-5’ direction. Participates in DNA replication and repair. Involved in 5’-end resection of DNA during double-strand break (DSB) repair- unwinds DNA and recruits DNA2 which mediates the cleavage of 5’-ssDNA. Negatively regulates sister chromatid exchange (SCE). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution. Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction; RecQ like helicases (1417 aa) | |||
| TOP1 | DNA topoisomerase 1; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3’-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5’-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus remov [...] (765 aa) | |||
| SUPT3H | Transcription initiation protein SPT3 homolog; Probable transcriptional activator; SAGA complex (328 aa) | |||
| VARS | Valine--tRNA ligase; Aminoacyl tRNA synthetases, Class I (1264 aa) | |||
| ATXN2 | Ataxin-2; Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane; Ataxins (1313 aa) | |||
| CHCHD2 | Coiled-coil-helix-coiled-coil-helix domain-containing protein 2; Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen); Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins (151 aa) | |||
| ATXN2L | Ataxin-2-like protein; Involved in the regulation of stress granule and P-body formation; Belongs to the ataxin-2 family (1097 aa) | |||
| MEIOB | Meiosis-specific with OB domain-containing protein; Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Required for double strand breaks (DSBs) repair and crossover formation and promotion of faithful and complete synapsis. Not required for the initial loading of recombinases but required to maintain a proper number of RAD51 and DMC1 foci after the zygotene stage. May act by ensuring the stabilization of recombinases, which is required for successful homology search and meiotic recombination. Displays Single-stranded DNA 3’-5’ exonuclease activity i [...] (471 aa) | |||
| RECQL | ATP-dependent DNA helicase Q1; DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3’-5’ direction; Belongs to the helicase family. RecQ subfamily (649 aa) | |||
| CHCHD10 | Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial; May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure; Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins (142 aa) | |||
| UBE2V2 | Ubiquitin-conjugating enzyme E2 variant 2; Has no ubiquitin ligase activity on its own. The UBE2V2/UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through ’Lys-63’. This type of poly-ubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage (145 aa) | |||
| VARS2 | Valine--tRNA ligase, mitochondrial; valyl-tRNA synthetase 2, mitochondrial; Aminoacyl tRNA synthetases, Class I (1093 aa) | |||
| RECQL4 | ATP-dependent DNA helicase Q4; DNA-dependent ATPase. May modulate chromosome segregation; Belongs to the helicase family. RecQ subfamily (1208 aa) | |||
| CISD3 | CDGSH iron-sulfur domain-containing protein 3, mitochondrial; CDGSH iron sulfur domain containing; Belongs to the CISD protein family (127 aa) | |||
