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| HBQ1 | Hemoglobin subunit theta 1 (142 aa) | |||
| 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) | |||
| 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) | |||
| 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) | |||
| MACROD1 | O-acetyl-ADP-ribose deacetylase MACROD1; Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Plays a role in estrogen signaling. Binds to androgen receptor (AR) and amplifies the transactivation function of AR in response to androgen. May play an important role in carcinogenesis and/or progression of hormone-dependent cancers by feed-forward mechanism [...] (325 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) | |||
| 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) | |||
| HBB | Hemoglobin subunit beta; Involved in oxygen transport from the lung to the various peripheral tissues; Belongs to the globin family (147 aa) | |||
| MAFK | Transcription factor MafK; Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor; Belongs to the bZIP family. Maf subfamily (156 aa) | |||
| CTSL | Cathepsin L1; Important for the overall degradation of proteins in lysosomes; Cathepsins (333 aa) | |||
| MAFF | Transcription factor MafF; Interacts with the upstream promoter region of the oxytocin receptor gene. May be a transcriptional enhancer in the up-regulation of the oxytocin receptor gene at parturition. Since it lacks a putative transactivation domain, it may behave as a transcriptional repressor when it dimerize among himself. May also serve as a transcriptional activator by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. May be involved in the cellular stress response; Belongs to the bZIP family. Maf subfamily (164 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) | |||
| HBM | Hemoglobin subunit mu; Belongs to the globin family (141 aa) | |||
| MAFG | Transcription factor MafG; Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor. Transcription factor, component of erythroid-specific transcription factor NF- E2. Activates globin gene expression when associated with [...] (162 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) | |||
| HBE1 | Hemoglobin subunit epsilon; The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin; Belongs to the globin family (147 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) | |||
| HBD | Hemoglobin subunit delta; Involved in oxygen transport from the lung to the various peripheral tissues; Belongs to the globin family (147 aa) | |||
| ENSG00000250644 | Uncharacterized protein (262 aa) | |||
| NFE2 | Transcription factor NF-E2 45 kDa subunit; Component of the NF-E2 complex essential for regulating erythroid and megakaryocytic maturation and differentiation. Binds to the hypersensitive site 2 (HS2) of the beta-globin control region (LCR). This subunit (NFE2) recognizes the TCAT/C sequence of the AP-1-like core palindrome present in a number of erythroid and megakaryocytic gene promoters. Requires MAFK or other small MAF proteins for binding to the NF-E2 motif. May play a role in all aspects of hemoglobin production from globin and heme synthesis to procurement of iron; Basic leucine [...] (373 aa) | |||
| CTSV | Cathepsin L2; Cysteine protease. May have an important role in corneal physiology; Belongs to the peptidase C1 family (334 aa) | |||
