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TUBB1 | tubulin, beta 1 class VI; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity) (451 aa) | |||
DHODH | dihydroorotate dehydrogenase (quinone); Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor (395 aa) | |||
OBFC1 | oligonucleotide/oligosaccharide-binding fold containing 1; Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites (368 aa) | |||
MRPS2 | mitochondrial ribosomal protein S2 (296 aa) | |||
BRIP1 | BRCA1 interacting protein C-terminal helicase 1; DNA-dependent ATPase and 5’ to 3’ DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1 (1249 aa) | |||
NDUFS3 | NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase); Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity) (264 aa) | |||
SSBP1 | single-stranded DNA binding protein 1, mitochondrial; This protein binds preferentially and cooperatively to ss-DNA. Probably involved in mitochondrial DNA replication. Associates with mitochondrial DNA (148 aa) | |||
ACAT1 | acetyl-CoA acetyltransferase 1; Plays a major role in ketone body metabolism (427 aa) | |||
HNRNPH3 | heterogeneous nuclear ribonucleoprotein H3 (2H9) (346 aa) | |||
TUBA1C | tubulin, alpha 1c; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity) (449 aa) | |||
TMEM126A | transmembrane protein 126A (195 aa) | |||
RNASEH1 | ribonuclease H1; Endonuclease that specifically degrades the RNA of RNA- DNA hybrids (286 aa) | |||
SAMM50 | sorting and assembly machinery component 50 homolog (S. cerevisiae); May be required for the assembly pathway of mitochondrial outer membrane proteins (By similarity) (469 aa) | |||
GABPA | GA binding protein transcription factor, alpha subunit 60kDa; Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene (454 aa) | |||
RAD52 | RAD52 homolog (S. cerevisiae); Involved in double-stranded break repair. Plays a central role in genetic recombination and DNA repair by promoting the annealing of complementary single-stranded DNA and by stimulation of the RAD51 recombinase (418 aa) | |||
UBL4A | ubiquitin-like 4A; Component of the BAT3 complex, a multiprotein complex involved in the post-translational delivery of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane. TA membrane proteins, also named type II transmembrane proteins, contain a single C-terminal transmembrane region. The complex acts by facilitating TA proteins capture by ASNA1/TRC40- it is recruited to ribosomes synthesizing membrane proteins, interacts with the transmembrane region of newly released TA proteins, and transfers them to ASNA1/TRC40 for targeting (157 aa) | |||
RTEL1 | regulator of telomere elongation helicase 1 (1219 aa) | |||
RPA4 | replication protein A4, 30kDa; Functions as component of the alternative replication protein A complex (aRPA). aRPA binds single-stranded DNA and probably plays a role in DNA repair; it does not support chromosomal DNA replication and cell cycle progression through S- phase. In vitro, aRPA cannot promote efficient priming by DNA polymerase alpha but supports DNA polymerase delta synthesis in the presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange (261 aa) | |||
RPA2 | replication protein A2, 32kDa; Required for DNA recombination, repair and replication. The activity of RP-A is mediated by single-stranded DNA binding and protein interactions. Required for the efficient recruitment of the DNA double-strand break repair factor RAD51 to chromatin in response to DNA damage (270 aa) | |||
UQCRQ | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa; This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit, together with cytochrome b, binds to ubiquinone (82 aa) | |||
ERCC2 | excision repair cross-complementing rodent repair deficiency, complementation group 2; ATP-dependent 5’-3’ DNA helicase, component of the core- TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might h [...] (760 aa) | |||
DDX11 | DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11; DNA helicase involved in cellular proliferation. Possesses DNA-dependent ATPase and helicase activities. This helicase translocates on single-stranded DNA in the 5’ to 3’ direction in the presence of ATP and, to a lesser extent, dATP. Its unwinding activity requires a 5’-single-stranded region for helicase loading, since flush-ended duplex structures do not support unwinding. The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended to 500 bp by RPA or the cohesion establishment factor, the Ctf18-RFC [...] (970 aa) | |||
MALSU1 | mitochondrial assembly of ribosomal large subunit 1; May function as a ribosomal silencing factor. Addition to isolated mitochondrial ribosomal subunits partially inhibits translation. Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits and the formation of functional ribosomes, thus repressing translation. May also participate in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome (234 aa) | |||
HSD17B4 | hydroxysteroid (17-beta) dehydrogenase 4; Bifunctional enzyme acting on the peroxisomal beta- oxidation pathway for fatty acids. Catalyzes the formation of 3- ketoacyl-CoA intermediates from both straight-chain and 2-methyl- branched-chain fatty acids (761 aa) | |||
ENSG00000255767 | Uncharacterized protein (34 aa) | |||
FLJ00362 | RTEL1-TNFRSF6B readthrough (non-protein coding) (1400 aa) |