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| GOT2 | Aspartate aminotransferase, mitochondrial; Catalyzes the irreversible transamination of the L- tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids; Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family (430 aa) | |||
| TUBG2 | Tubulin gamma-2 chain; Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation (By similarity); Tubulins (451 aa) | |||
| TUBG1 | Tubulin gamma-1 chain; Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation; Tubulins (451 aa) | |||
| FANCM | Fanconi anemia group M protein; DNA-dependent ATPase component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage. In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates. Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activi [...] (2048 aa) | |||
| SORD | Sorbitol dehydrogenase; Converts sorbitol to fructose. Part of the polyol pathway that plays an important role in sperm physiology. May play a role in the sperm motility by providing an energetic source for sperm; Belongs to the zinc-containing alcohol dehydrogenase family (357 aa) | |||
| CELF6 | CUGBP Elav-like family member 6; RNA-binding protein implicated in the regulation of pre- mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA; Belongs to the CELF/BRUNOL family (481 aa) | |||
| CELF3 | CUGBP Elav-like family member 3; RNA-binding protein involved in the regulation of pre- mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA (465 aa) | |||
| CELF5 | CUGBP Elav-like family member 5; RNA-binding protein implicated in the regulation of pre- mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA (485 aa) | |||
| PHKB | Phosphorylase b kinase regulatory subunit beta; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation (1093 aa) | |||
| C17orf70 | Fanconi anemia core complex-associated protein 100; Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed (881 aa) | |||
| PGM1 | Phosphoglucomutase-1; This enzyme participates in both the breakdown and synthesis of glucose; Belongs to the phosphohexose mutase family (580 aa) | |||
| PHKA1 | Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin (1223 aa) | |||
| FANCG | Fanconi anemia group G protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene; Fanconi anemia complementation groups (622 aa) | |||
| PHKA2 | Phosphorylase b kinase regulatory subunit alpha, liver isoform; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin (1235 aa) | |||
| FANCA | Fanconi anemia group A protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability; Fanconi anemia complementation groups (1455 aa) | |||
| ABAT | 4-aminobutyrate aminotransferase, mitochondrial; Catalyzes the conversion of gamma-aminobutyrate and L- beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family (500 aa) | |||
| FANCB | Fanconi anemia group B protein; DNA repair protein required for FANCD2 ubiquitination; Fanconi anemia complementation groups (859 aa) | |||
| FANCL | E3 ubiquitin-protein ligase FANCL; Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth; Fanconi anemia complementation groups (380 aa) | |||
| FAH | Fumarylacetoacetase; Fumarylacetoacetate hydrolase (419 aa) | |||
| CELF4 | CUGBP Elav-like family member 4; RNA-binding protein implicated in the regulation of pre- mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic site [...] (486 aa) | |||
| BRCA1 | Breast cancer type 1 susceptibility protein; E3 ubiquitin-protein ligase that specifically mediates the formation of ’Lys-6’-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic [...] (1884 aa) | |||
| CELF1 | CUGBP Elav-like family member 1; RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts as both an activator and repressor of a pair of coregulated exons- promotes inclusion of the smooth muscle (SM) exon bu [...] (512 aa) | |||
| CELF2 | CUGBP Elav-like family member 2; RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts as both an activator and repressor of a pair of coregulated exons- promotes [...] (521 aa) | |||
| LDHA | Lactate dehydrogenase A; Belongs to the LDH/MDH superfamily. LDH family (361 aa) | |||
| PHKG1 | Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform; Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity) (419 aa) | |||
| C19orf40 | Fanconi anemia core complex-associated protein 24; Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA (215 aa) | |||
