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CTSD | Cathepsin D; Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease; Cathepsins (412 aa) | |||
TBPL1 | TATA box-binding protein-like protein 1; Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5’-TCT-3’ motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box (186 aa) | |||
PIWIL1 | Piwi-like protein 1; Endoribonuclease that plays a central role in postnatal germ cells by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Directly binds methylated piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived fr [...] (861 aa) | |||
TBPL2 | TATA box-binding protein-like protein 2; Transcription factor required in complex with TAF3 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process (By similarity); Belongs to the TBP family (375 aa) | |||
AANAT | Serotonin N-acetyltransferase; Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N- acetylserotonin, the penultimate step in the synthesis of melatonin; Belongs to the acetyltransferase family. AANAT subfamily (252 aa) | |||
HBA2 | Hemoglobin subunit alpha 2; Involved in oxygen transport from the lung to the various peripheral tissues; Hemoglobin subunits (142 aa) | |||
HBZ | Hemoglobin subunit zeta; The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin (142 aa) | |||
NAPSA | Napsin-A; May be involved in processing of pneumocyte surfactant precursors (420 aa) | |||
HSPA4L | Heat shock 70 kDa protein 4L; Possesses chaperone activity in vitro where it inhibits aggregation of citrate synthase; Belongs to the heat shock protein 70 family (839 aa) | |||
PIWIL4 | Piwi-like protein 4; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from [...] (852 aa) | |||
HSPA4 | Heat shock protein family A member 4; Belongs to the heat shock protein 70 family (840 aa) | |||
HBA1 | Hemoglobin subunit alpha; Involved in oxygen transport from the lung to the various peripheral tissues; Belongs to the globin family (142 aa) | |||
HBG1 | Hemoglobin subunit gamma 1 (147 aa) | |||
PIWIL3 | Piwi-like protein 3; May play a role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequen [...] (882 aa) | |||
PUM2 | Pumilio homolog 2; Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3’-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5’-UGUANAUA-3’, that is related to the Nanos Response Element (NRE) (, PubMed-21397187). Mediates post- transcriptional repression of transcripts via different mechanisms- acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation. Also mediates deadenylation- independent repression by promoting accessibility of miRNA [...] (1064 aa) | |||
CTSL | Cathepsin L1; Important for the overall degradation of proteins in lysosomes; Cathepsins (333 aa) | |||
CTSB | Cathepsin B; Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis; Cathepsins (339 aa) | |||
PIWIL2 | Piwi-like protein 2; Endoribonuclease that plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent re [...] (973 aa) | |||
CTSE | Cathepsin E; May have a role in immune function. Probably involved in the processing of antigenic peptides during MHC class II-mediated antigen presentation. May play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain; Cathepsins (396 aa) | |||
SMC3 | Structural maintenance of chromosomes protein 3; Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement (1217 aa) | |||
PGC | Gastricsin; Hydrolyzes a variety of proteins; Belongs to the peptidase A1 family (388 aa) | |||
FXN | Frataxin, mitochondrial; Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only [...] (210 aa) | |||
HBG2 | Hemoglobin subunit gamma-2; Gamma chains make up the fetal hemoglobin F, in combination with alpha chains; Belongs to the globin family (147 aa) | |||
PUM1 | Pumilio homolog 1; Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3’-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5’-UGUANAUA-3’, that is related to the Nanos Response Element (NRE). Mediates post-transcriptional repression of transcripts via different mechanisms- acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation. Also mediates deadenylation-independent repression by promoting accessibility of miRNAs. Following growth fa [...] (1188 aa) | |||
ENSG00000250644 | Uncharacterized protein (262 aa) | |||
CTSV | Cathepsin L2; Cysteine protease. May have an important role in corneal physiology; Belongs to the peptidase C1 family (334 aa) |