{ "bcoid": "GLY_000133", "title": "Human Protein Function (NCBI Refseq)", "description": "The Human Protein Function (NCBI RefSeq) dataset contains biological function annotation of human [taxid:9606] ...", "filename": "human_protein_function_refseq.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Protein Function", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "Q1HG43-1...", "protein_xref..." ], [ "Q1HG43-1...", "protein_xref..." ] ], "headers": [ "uniprotkb_ca...", "xref_key..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "xref_key" }, { "type": "string", "label": "xref_id" }, { "type": "string", "label": "evidence" }, { "type": "string", "label": "annotation" } ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263194", "", "Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]." ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263194", "33420071", "Structures of human dual oxidase 1 complex in low-calcium and high-calcium states. Publication Status: Online-Only" ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263194", "29704517", "Study shows that DUOXA1 is overexpressed in platinum-resistant ovarian cancer (OC) cells, resulting in over production of reactive oxygen species (ROS). Elevated ROS level sustains the activation of ATR-Chk1 pathway, leading to resistance to cisplatin in OC cells. Clinical studies also confirm the activation of ATR and DOUXA1 in OC patients, and elevated DOUXA1 or ATR-Chk1 pathway correlates with poor prognosis." ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263194", "27262981", "We analyzed the expression of NADPH oxidase isoforms and found both A431 and HaCaT cells to express the calcium-sensitive NADPH oxidase, Dual oxidase 1 (Duox1) and its protein partner Duox activator 1 (DuoxA1).Our observations provide evidence for a new signaling paradigm in which changes of intracellular calcium concentration are transformed into redox signals through the calcium-dependent activation of Duox1." ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263194", "19322654", "DUOXA1 transient overexpression affected the cell-cell adhesion by modulating the actin cytoskeleton" ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263194", "19339556", "Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells." ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263193", "", "Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]." ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263193", "33420071", "Structures of human dual oxidase 1 complex in low-calcium and high-calcium states. Publication Status: Online-Only" ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263193", "29704517", "Study shows that DUOXA1 is overexpressed in platinum-resistant ovarian cancer (OC) cells, resulting in over production of reactive oxygen species (ROS). Elevated ROS level sustains the activation of ATR-Chk1 pathway, leading to resistance to cisplatin in OC cells. Clinical studies also confirm the activation of ATR and DOUXA1 in OC patients, and elevated DOUXA1 or ATR-Chk1 pathway correlates with poor prognosis." ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263193", "27262981", "We analyzed the expression of NADPH oxidase isoforms and found both A431 and HaCaT cells to express the calcium-sensitive NADPH oxidase, Dual oxidase 1 (Duox1) and its protein partner Duox activator 1 (DuoxA1).Our observations provide evidence for a new signaling paradigm in which changes of intracellular calcium concentration are transformed into redox signals through the calcium-dependent activation of Duox1." ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263193", "19322654", "DUOXA1 transient overexpression affected the cell-cell adhesion by modulating the actin cytoskeleton" ], [ "Q1HG43-1", "protein_xref_refseq", "NP_001263193", "19339556", "Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells." ], [ "O95243-1", "protein_xref_refseq", "NP_001263199", "", "The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]." ], [ "O95243-1", "protein_xref_refseq", "NP_001263199", "34107280", "Structural Insights into the Mechanism of Base Excision by MBD4." ], [ "O95243-1", "protein_xref_refseq", "NP_001263199", "33871441", "[Comparative Analysis of the Activity of the Polymorphic Variants of Human Uracil-DNA-Glycosylases SMUG1 and MBD4]." ], [ "O95243-1", "protein_xref_refseq", "NP_001263199", "32239153", "Germline MBD4 Mutations and Predisposition to Uveal Melanoma." ], [ "O95243-1", "protein_xref_refseq", "NP_001263199", "32421892", "Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanoma." ], [ "O95243-1", "protein_xref_refseq", "NP_001263199", "31476572", "MBD4 is sumoylated in vivo in a DNA damage-specific manner" ], [ "O60232-1", "protein_xref_refseq", "NP_001289953", "", "This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008]." ], [ "O60232-1", "protein_xref_refseq", "NP_001289953", "21292307", "Our method identified a strong relationship between p27 expression and prostate cancer recurrence." ], [ "O60232-1", "protein_xref_refseq", "NP_001289953", "19574837", "The current results showed that p27 expression were associated with glioma grade." ], [ "Q9NX04-1", "protein_xref_refseq", "NP_001289959", "22548824", "Our findings suggest that C1ORF109 may be the downstream target of protein kinase CK2 and involved in the regulation of cancer cell proliferation. Publication Status: Online-Only" ], [ "Q99217-1", "protein_xref_refseq", "NP_001133", "", "This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]." ], [ "Q99217-1", "protein_xref_refseq", "NP_001133", "31838295", "AMELX and ODAM variations was not different between two populations of schoolchildren with respect to dental fluorosis (DF) severity; however, the presence of rs1784418 differed between phenotypes with regard to susceptibility to DF. Therefore, MMP20 might be related to the various phenotypes of DF" ], [ "Q99217-1", "protein_xref_refseq", "NP_001133", "31185186", "Family study of a novel AMELX mutation with skewed X chromosome inactivation causing hypoplastic and hypomineralized amelogenesis imperfecta" ], [ "Q99217-1", "protein_xref_refseq", "NP_001133", "29802703", "High AMEL expression is associated with Aggressiveness in Odontogenic Tumors. Publication Status: Online-Only" ], [ "Q99217-1", "protein_xref_refseq", "NP_001133", "28801830", "To the best of our knowledge, this is the first report of expression of human amelogenin in plants, offering the possibility to use this plant-made protein for nanotechnological applications." ], [ "Q99217-1", "protein_xref_refseq", "NP_001133", "28395292", "The calcium level was associated with genetic variations in AMELX, AMNB and ESRRB. AMELX and AMNB are involved in enamel mineralization. Mutations in both these genes are responsible for the amelogenesis imperfecta phenotype (OMIN), which supports their link with enamel alterations as well as enamel mineralization." ], [ "P16050-1", "protein_xref_refseq", "NP_001131", "", "This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on various polyunsaturated fatty acid substrates to generate various bioactive lipid mediators such as eicosanoids, hepoxilins, lipoxins, and other molecules. The encoded enzyme and its reaction products have been shown to regulate inflammation and immunity. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]." ], [ "P16050-1", "protein_xref_refseq", "NP_001131", "34762602", "15LO1 dictates glutathione redox changes in asthmatic airway epithelium to worsen type 2 inflammation." ], [ "P16050-1", "protein_xref_refseq", "NP_001131", "33816635", "Characterization of Mice Ubiquitously Overexpressing Human 15-Lipoxygenase-1: Effect of Diabetes on Peripheral Neuropathy and Treatment with Menhaden Oil. Publication Status: Online-Only" ], [ "P16050-1", "protein_xref_refseq", "NP_001131", "32867639", "The Emerging Role of COX-2, 15-LOX and PPARgamma in Metabolic Diseases and Cancer: An Introduction to Novel Multi-target Directed Ligands (MTDLs)." ], [ "P16050-1", "protein_xref_refseq", "NP_001131", "32768245", "12/15-Lipoxygenase choreographs the resolution of IgG-mediated skin inflammation." ], [ "P16050-1", "protein_xref_refseq", "NP_001131", "33218117", "Enhanced 15-Lipoxygenase 1 Production is Related to Periostin Expression and Eosinophil Recruitment in Eosinophilic Chronic Rhinosinusitis. Publication Status: Online-Only" ], [ "O75342-1", "protein_xref_refseq", "NP_001130", "", "This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]." ], [ "O75342-1", "protein_xref_refseq", "NP_001130", "33607042", "Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking." ], [ "O75342-1", "protein_xref_refseq", "NP_001130", "33435499", "Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Publication Status: Online-Only" ], [ "O75342-1", "protein_xref_refseq", "NP_001130", "32253496", "A possible contribution of the SPNS2 variation to POI was not strictly ruled out, but various data presented in the text including reported association of variations in related gene ALOX12 with menopause-age and role of ALOX12B in atretic bovine follicle formation argue in favor of ALOX12B. It is, therefore, concluded that the mutation in ALOX12B is the likely cause of POI in the pedigree." ], [ "O75342-1", "protein_xref_refseq", "NP_001130", "28236338", "The rare homozygous ALOX12B mutation found in Patient 5 causes a change in a conserved residue; Leu315 into a proline in the catalytic domain of 12R-LOX." ], [ "O75342-1", "protein_xref_refseq", "NP_001130", "26575587", "Report adds information on the clinical picture of autosomal recessive congenital ichthyosis caused by ALOX12B mutations" ], [ "Q15389-1", "protein_xref_refseq", "NP_001137", "", "This gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Mutations in this gene are associated with hereditary angioedema. [provided by RefSeq, Aug 2020]." ], [ "Q15389-1", "protein_xref_refseq", "NP_001137", "34153320", "Intrinsic differences in the mechanisms of Tie2 binding to angiopoietins exploited by directed evolution to create an Ang2-selective ligand trap." ], [ "Q15389-1", "protein_xref_refseq", "NP_001137", "34326408", "Diagnostic and prognostic significance of serum angiopoietin-1 and -2 concentrations in patients with pulmonary hypertension. Publication Status: Online-Only" ], [ "Q15389-1", "protein_xref_refseq", "NP_001137", "34366616", "Prognostic role of plasma level of angiopoietin-1, angiopoietin-2, and vascular endothelial growth factor in hepatocellular carcinoma." ], [ "Q15389-1", "protein_xref_refseq", "NP_001137", "34856707", "Serum Angiopoietin-1 and -2 and VEGF are associated with severe disease in vivax malaria." ], [ "Q15389-1", "protein_xref_refseq", "NP_001137", "11856872", "Genomic structures of the human angiopoietins show polymorphism in angiopoietin-2" ], [ "Q9Y5Z0-1", "protein_xref_refseq", "NP_036237", "", "This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]." ], [ "Q9Y5Z0-1", "protein_xref_refseq", "NP_036237", "16757812", "Data characterize the human beta-secretase 2 (BACE2) 5'-flanking region." ], [ "Q9Y5Z0-1", "protein_xref_refseq", "NP_036237", "15857888", "Data indicate that despite being homologous in amino acid sequence, beta-site beta amyloid precursor protein cleaving enzyme 2(BACE2) and BACE1 have distinct functions and transcriptional regulation" ], [ "Q99218-2", "protein_xref_refseq", "NP_001134", "", "This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]." ], [ "Q99218-2", "protein_xref_refseq", "NP_001134", "32571191", "Optimization of Method for Human Sex Determination Using Peptidome Analysis of Teeth Enamel from Teeth of Different Biological Generation, Archeological Age, and Degrees of Taphonomic Preservation." ], [ "Q99218-2", "protein_xref_refseq", "NP_001134", "28828942", "Finally, since these results are almost completely in accordance with previously published data on B&H and neighboring populations generated by Y-chromosome single nucleotide polymorphism analysis, it can be concluded that in silico analysis of Y-STRs is a reliable method for approximation of the Y-chromosome haplogroup diversity of an examined population." ], [ "Q99218-2", "protein_xref_refseq", "NP_001134", "23948316", "Demonstrate the presence of copy number variations in regions containing 9 of the 13 CODIS(Combined DNA Index System) short tandem repeat(STR) and AMELX/Y loci" ], [ "Q99218-2", "protein_xref_refseq", "NP_001134", "23623014", "252 confirmed and unrelated father/son pairs from the Moroccan population were examined using 17 Y-STR markers of the AmpFISTR Yfiler kit. A total of 15 single repeat mutations between fathers and sons were observed as mutational events." ], [ "Q99218-2", "protein_xref_refseq", "NP_001134", "22669323", "Results of haplogroup prediction showed that seven AMELY dropouts combined with variant Y-STR deletions can be classified as the J2 subdivision, suggesting that some of these Y chromosomes might descend from a common ancestor." ], [ "P22223-1", "protein_xref_refseq", "NP_001304124", "", "This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]." ], [ "P22223-1", "protein_xref_refseq", "NP_001304124", "34216280", "P-Cadherin and WNT5A expression in assessment of lymph node metastasis in oral squamous cell carcinoma." ], [ "P22223-1", "protein_xref_refseq", "NP_001304124", "33517284", "Chloride Intracellular Channel Protein 1 (CLIC1), E-cadherin and P-cadherin Define Distinct Subclasses of HER2, Luminal B and Triple-negative Breast Cancer." ], [ "P22223-1", "protein_xref_refseq", "NP_001304124", "33413178", "Mucinous, endometrioid, and serous ovarian cancers with peritoneal dissemination are potent candidates for P-cadherin targeted therapy: a retrospective cohort study. Publication Status: Online-Only" ], [ "P22223-1", "protein_xref_refseq", "NP_001304124", "32988879", "Differential Expression of E-Cadherin and P-Cadherin in Breast Cancer Molecular Subtypes." ], [ "Q13126-1", "protein_xref_refseq", "NP_002442", "", "This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2021]." ], [ "Q13126-1", "protein_xref_refseq", "NP_002442", "34463336", "Loss of Methylthioadenosine Phosphorylase by Immunohistochemistry Is Common in Pulmonary Sarcomatoid Carcinoma and Sarcomatoid Mesothelioma." ], [ "Q13126-1", "protein_xref_refseq", "NP_002442", "34385182", "MTAP Deficiency-Induced Metabolic Reprogramming Creates a Vulnerability to Cotargeting De Novo Purine Synthesis and Glycolysis in Pancreatic Cancer." ], [ "Q13126-1", "protein_xref_refseq", "NP_002442", "34244484", "Homozygous MTAP deletion in primary human glioblastoma is not associated with elevation of methylthioadenosine. Publication Status: Online-Only" ], [ "Q13126-1", "protein_xref_refseq", "NP_002442", "33795785", "Transcriptional perturbation of protein arginine methyltransferase-5 exhibits MTAP-selective oncosuppression. Publication Status: Online-Only" ], [ "Q13126-1", "protein_xref_refseq", "NP_002442", "33077924", "Utility of methylthioadenosine phosphorylase immunohistochemical deficiency as a surrogate for CDKN2A homozygous deletion in the assessment of adult-type infiltrating astrocytoma." ], [ "P36639-4", "protein_xref_refseq", "NP_002443", "", "Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Dec 2018]." ], [ "P36639-4", "protein_xref_refseq", "NP_002443", "34624481", "Specific 8-oxo-dGTPase activity of MTH1 (NUDT1) protein as a quantitative marker and prognostic factor in human colorectal cancer." ], [ "P36639-4", "protein_xref_refseq", "NP_002443", "33737576", "Karonudib has potent anti-tumor effects in preclinical models of B-cell lymphoma. Publication Status: Online-Only" ], [ "P36639-4", "protein_xref_refseq", "NP_002443", "33130078", "MutT Homolog1 has multifaceted role in glioma and is under the apparent orchestration by Hypoxia Inducible factor1 alpha. Erratum:[Life Sci. 2020 Dec 7;:118810. PMID: 33303203]" ], [ "P36639-4", "protein_xref_refseq", "NP_002443", "33096144", "The high expression of MTH1 and NUDT5 promotes tumor metastasis and indicates a poor prognosis in patients with non-small-cell lung cancer." ], [ "P36639-4", "protein_xref_refseq", "NP_002443", "33238630", "Radiolabeled 6-(2, 3-Dichlorophenyl)-N4-methylpyrimidine-2, 4-diamine (TH287): A Potential Radiotracer for Measuring and Imaging MTH1. Publication Status: Online-Only" ], [ "Q9UBK8-2", "protein_xref_refseq", "NP_002445", "", "This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]." ], [ "Q9UBK8-2", "protein_xref_refseq", "NP_002445", "32735057", "Unconventional Biocatalytic Approaches to the Synthesis of Chiral Sulfoxides. Review article" ], [ "Q9UBK8-2", "protein_xref_refseq", "NP_002445", "33407572", "Association of three missense mutations in the homocysteine-related MTHFR and MTRR gene with risk of polycystic ovary syndrome in Southern Chinese women. Publication Status: Online-Only" ], [ "Q9UBK8-2", "protein_xref_refseq", "NP_002445", "34169999", "Association of MTHFR, MTRR and RAD54L Gene Variations with Meningioma and Correlation with Tumor's Histopathological Characteristics on Turkish Cohort." ], [ "Q9UBK8-2", "protein_xref_refseq", "NP_002445", "33121283", "Variants c.677 C>T, c.1298 A>C in MTHFR, and c.66 A>G in MTRR Affect the Occurrence of Recurrent Pregnancy Loss in Chinese Women." ], [ "P15336-1", "protein_xref_refseq", "NP_001243019", "", "This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014]." ], [ "P15336-1", "protein_xref_refseq", "NP_001243019", "34498716", "Long noncoding RNA ZSCAN16AS1 promotes the malignant properties of hepatocellular carcinoma by decoying microRNA451a and consequently increasing ATF2 expression." ], [ "P15336-1", "protein_xref_refseq", "NP_001243019", "34273954", "MARCH6 promotes hepatocellular carcinoma development through up-regulation of ATF2. Publication Status: Online-Only" ], [ "P15336-1", "protein_xref_refseq", "NP_001243019", "34195276", "Long Noncoding RNA RP11-357H14.17 Plays an Oncogene Role in Gastric Cancer by Activating ATF2 Signaling and Enhancing Treg Cells. Publication Status: Online-Only" ], [ "P15336-1", "protein_xref_refseq", "NP_001243019", "33631165", "Protective effect of SIRT6 on cholesterol crystal-induced endothelial dysfunction via regulating ACE2 expression." ], [ "P15336-1", "protein_xref_refseq", "NP_001243019", "33724979", "Micro-RNA-451 Reduces Proliferation of B-CPAP Human Papillary Thyroid Cancer Cells by Downregulating Expression of Activating Transcription Factor 2. Publication Status: Online-Only" ], [ "P15336-1", "protein_xref_refseq", "NP_001243019", "15916964", "Data demonstrate that the protein kinase ATM phosphorylates ATF2 on serines 490 and 498 following ionizing radiation (IR)." ] ] }, "readme": "Name\n - Human Protein Function (NCBI Refseq)\n\nVersion\n - 1.11.2\n\nCreated on\n - 2019-03-16T15:35:15.248632\n\nModified on\n - 2022-01-19T11:15:01.844413\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Rahi Navelkar [rsn13@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Xavier Holmes [xavierh@email.gwu.edu], Karina Martinez [karinamartinez@gwu.edu], Amanda Bell [amandab2140@gwu.edu], Jonathon Keeney [keeneyjg@gwu.edu], Millicent Quartey [mquartey@email.gwu.edu]\n\nAuthors\n - Maria Martin [martin@ebi.ac.uk], Preethi Vasudev [pvasudev@ebi.ac.uk]\n\nChecksum\n - \n\nUsability Domain\n - The Human Protein Function (NCBI RefSeq) dataset contains biological function annotation of human [taxid:9606] genes from GeneRIF section in the NCBI RefSeq database. The dataset is downloaded from NCBI RefSeq Release 96, September 9, 2019. If you use this dataset please provide proper attribution to NCBI RefSeq and GlyGen. \n\nDescription Domain\n Keywords\n - protein function\n - NCBI RefSeq\n - geneRIF\n - PMID\n\n Pipeline Steps\n - Step-1: The script parses the NCBI RefSeq gpff files to extract the geneRIFs that contain protein function. The script also maps RefSeq accession to the UniProtKB Canonical accessions. \n\nExecution Domain\n Scripts - https://github.com/GW-HIVE/glygen-backend-integration/blob/master/pipeline/integrator/make-protein-dataset.py\n\n\n Software Prerequisites\n Name: Python\n Version: 2.7.5\n URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n Input Subdomain\n Name: refseq_protein_all_9606.gpff\n URI: https://data.glygen.org//ln2downloads/ncbi/refseq/2020_12/refseq_protein_all_9606.gpff\n Name: human_protein_xref_refseq.csv\n URI: https://data.glygen.org//ln2data/releases/data/v-1.11.2/reviewed/human_protein_xref_refseq.csv\n Output Subdomain\n Name: human_protein_function_refseq.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.12.1/reviewed/human_protein_function_refseq.csv\n Name: human_protein_function_refseq.stat.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.12.1/reviewed/human_protein_function_refseq.stat.csv", "downloadurl": "/ln2data/releases/data/v-1.12.1/reviewed/human_protein_function_refseq.csv" }