psui3905/ncbi_genes_summary huggingface dataset:
PRDM8, Official Symbol PRDM8provided by HGNC Official Full Name PR/SET domain 8provided by HGNC Primary source HGNC:HGNC:13993 See related Ensembl:ENSG00000152784 MIM:616639; AllianceGenome:HGNC:13993 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PFM5; EPM10; KMT8D Summary This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Broad expression in prostate (RPKM 8.4), brain (RPKM 5.3) and 17 other tissues See more Orthologs mouse all
PRDM9, Official Symbol PRDM9provided by HGNC Official Full Name PR/SET domain 9provided by HGNC Primary source HGNC:HGNC:13994 See related Ensembl:ENSG00000164256 MIM:609760; AllianceGenome:HGNC:13994 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PFM6; KMT8B; MSBP3; ZNF899; MEISETZ Summary The protein encoded by this gene is a zinc finger protein with histone methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein contains multiple domains, including a Kruppel-associated box (KRAB) domain, an SSX repression domain (SSXRD), a PRD1-BF1 and RIZ homologous region, a subclass of SET (PR/SET) domain, and a tandem array of C2H2 zinc fingers. The zinc finger array recognizes a short sequence motif, leading to local H3K4me3, and meiotic recombination hotspot activity. The observed allelic variation alters the DNA-binding sequence specificity of the protein, resulting in distinct meiotic recombination hotspots amongst individuals and populations. Multiple alternate alleles of this gene have been described. [provided by RefSeq, Jul 2015] Expression Restricted expression toward testis (RPKM 2.2) See more Orthologs mouse all
PRDX1, Official Symbol PRDX1provided by HGNC Official Full Name peroxiredoxin 1provided by HGNC Primary source HGNC:HGNC:9352 See related Ensembl:ENSG00000117450 MIM:176763; AllianceGenome:HGNC:9352 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAG; PAGA; PAGB; PRX1; PRXI; MSP23; NKEFA; TDPX2; NKEF-A Summary This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in thyroid (RPKM 269.3), kidney (RPKM 192.7) and 24 other tissues See more Orthologs mouse all
PRDX1P1, Official Symbol PRDX1P1provided by HGNC Official Full Name peroxiredoxin 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:11711 See related AllianceGenome:HGNC:11711 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAGB; TDPX2
PRDX2, Official Symbol PRDX2provided by HGNC Official Full Name peroxiredoxin 2provided by HGNC Primary source HGNC:HGNC:9353 See related Ensembl:ENSG00000167815 MIM:600538; AllianceGenome:HGNC:9353 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRP; TSA; PRX2; PTX1; TPX1; NKEFB; PRXII; TDPX1; NKEF-B; HEL-S-2a Summary This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013] Expression Ubiquitous expression in bone marrow (RPKM 201.9), heart (RPKM 194.1) and 25 other tissues See more Orthologs mouse all
PRDX3, Official Symbol PRDX3provided by HGNC Official Full Name peroxiredoxin 3provided by HGNC Primary source HGNC:HGNC:9354 See related Ensembl:ENSG00000165672 MIM:604769; AllianceGenome:HGNC:9354 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AOP1; MER5; AOP-1; PPPCD; SP-22; HBC189; SCAR32; PRO1748; prx-III Summary This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22. [provided by RefSeq, Oct 2014] Expression Ubiquitous expression in adrenal (RPKM 195.5), kidney (RPKM 144.1) and 25 other tissues See more Orthologs mouse all
PRDX3P1, Official Symbol PRDX3P1provided by HGNC Official Full Name peroxiredoxin 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39264 See related AllianceGenome:HGNC:39264 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRDX3P2, Official Symbol PRDX3P2provided by HGNC Official Full Name peroxiredoxin 3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39265 See related AllianceGenome:HGNC:39265 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRDX3P3, Official Symbol PRDX3P3provided by HGNC Official Full Name peroxiredoxin 3 pseudogene 3provided by HGNC Primary source HGNC:HGNC:39266 See related Ensembl:ENSG00000234701 AllianceGenome:HGNC:39266 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRDX4, Official Symbol PRDX4provided by HGNC Official Full Name peroxiredoxin 4provided by HGNC Primary source HGNC:HGNC:17169 See related Ensembl:ENSG00000123131 MIM:300927; AllianceGenome:HGNC:17169 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRX-4; AOE372; AOE37-2; HEL-S-97n Summary The protein encoded by this gene is an antioxidant enzyme and belongs to the peroxiredoxin family. The protein is localized to the cytoplasm. Peroxidases of the peroxiredoxin family reduce hydrogen peroxide and alkyl hydroperoxides to water and alcohol with the use of reducing equivalents derived from thiol-containing donor molecules. This protein has been found to play a regulatory role in the activation of the transcription factor NF-kappaB. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in pancreas (RPKM 49.0), liver (RPKM 22.7) and 25 other tissues See more Orthologs mouse all
PRDX5, Official Symbol PRDX5provided by HGNC Official Full Name peroxiredoxin 5provided by HGNC Primary source HGNC:HGNC:9355 See related Ensembl:ENSG00000126432 MIM:606583; AllianceGenome:HGNC:9355 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PLP; ACR1; B166; PRXV; PMP20; PRDX6; prx-V; SBBI10; AOEB166; HEL-S-55 Summary This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein interacts with peroxisome receptor 1 and plays an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. The use of alternate transcription start sites is thought to result in transcript variants that use different in-frame translational start codons to generate isoforms that are targeted to the mitochondrion (isoform L) or peroxisome/cytoplasm (isoform S). Multiple related pseudogenes have been defined for this gene. [provided by RefSeq, Nov 2017] Expression Ubiquitous expression in colon (RPKM 157.0), kidney (RPKM 130.3) and 25 other tissues See more Orthologs mouse all
PRDX6, Official Symbol PRDX6provided by HGNC Official Full Name peroxiredoxin 6provided by HGNC Primary source HGNC:HGNC:16753 See related Ensembl:ENSG00000117592 MIM:602316; AllianceGenome:HGNC:16753 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRX; p29; AOP2; 1-Cys; NSGPx; aiPLA2; LPCAT-5; HEL-S-128m Summary The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 236.1), liver (RPKM 127.7) and 25 other tissues See more Orthologs mouse all
PRDX6-AS1, Official Symbol PRDX6-AS1provided by HGNC Official Full Name PRDX6 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54870 See related Ensembl:ENSG00000203739 AllianceGenome:HGNC:54870 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
PREB, Official Symbol PREBprovided by HGNC Official Full Name prolactin regulatory element bindingprovided by HGNC Primary source HGNC:HGNC:9356 See related Ensembl:ENSG00000138073 MIM:606395; AllianceGenome:HGNC:9356 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SEC12 Summary This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 22.2), fat (RPKM 20.3) and 25 other tissues See more Orthologs mouse all
PRECSIT, Official Symbol PRECSITprovided by HGNC Official Full Name p53 regulated carcinoma associated Stat3 activating long intergenic non-protein coding transcriptprovided by HGNC Primary source HGNC:HGNC:27492 See related Ensembl:ENSG00000255874 AllianceGenome:HGNC:27492 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C13orf29; LINC00346; NCRNA00346
PRELID1, Official Symbol PRELID1provided by HGNC Official Full Name PRELI domain containing 1provided by HGNC Primary source HGNC:HGNC:30255 See related Ensembl:ENSG00000169230 MIM:605733; AllianceGenome:HGNC:30255 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PX19; PRELI; SBBI12; CGI-106 Summary This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in colon (RPKM 60.0), small intestine (RPKM 55.2) and 25 other tissues See more Orthologs mouse all
PRELID1P1, Official Symbol PRELID1P1provided by HGNC Official Full Name PRELID1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43886 See related Ensembl:ENSG00000217325 AllianceGenome:HGNC:43886 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRELID1P2, Official Symbol PRELID1P2provided by HGNC Official Full Name PRELID1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:43887 See related AllianceGenome:HGNC:43887 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRELID1P3, Official Symbol PRELID1P3provided by HGNC Official Full Name PRELID1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:43888 See related AllianceGenome:HGNC:43888 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRELID1P4, Official Symbol PRELID1P4provided by HGNC Official Full Name PRELID1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:43889 See related AllianceGenome:HGNC:43889 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRELID1P7, Official Symbol PRELID1P7provided by HGNC Official Full Name PRELID1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:54772 See related Ensembl:ENSG00000230748 AllianceGenome:HGNC:54772 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRELID2, Official Symbol PRELID2provided by HGNC Official Full Name PRELI domain containing 2provided by HGNC Primary source HGNC:HGNC:28306 See related Ensembl:ENSG00000186314 AllianceGenome:HGNC:28306 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable phosphatidic acid transfer activity. Predicted to be involved in phospholipid transport. Predicted to be active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in small intestine (RPKM 2.0), colon (RPKM 1.4) and 17 other tissues See more Orthologs mouse all
PRELID3A, Official Symbol PRELID3Aprovided by HGNC Official Full Name PRELI domain containing 3Aprovided by HGNC Primary source HGNC:HGNC:24639 See related Ensembl:ENSG00000141391 MIM:616545; AllianceGenome:HGNC:24639 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SLMO1; C18orf43; HFL-EDDG1 Summary Enables phosphatidic acid transfer activity. Involved in phospholipid transport. Predicted to be active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 2.2), fat (RPKM 1.3) and 23 other tissues See more Orthologs mouse all
PRELID3B, Official Symbol PRELID3Bprovided by HGNC Official Full Name PRELI domain containing 3Bprovided by HGNC Primary source HGNC:HGNC:15892 See related Ensembl:ENSG00000101166 AllianceGenome:HGNC:15892 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SLMO2; C20orf45; dJ543J19.5 Summary Predicted to enable phosphatidic acid transfer activity. Predicted to be involved in phospholipid transport. Predicted to be active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 48.4), small intestine (RPKM 44.2) and 25 other tissues See more Orthologs mouse all
PRELID3BP10, Official Symbol PRELID3BP10provided by HGNC Official Full Name PRELI domain containing 3B pseudogene 10provided by HGNC Primary source HGNC:HGNC:49072 See related AllianceGenome:HGNC:49072 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRELID3BP11, Official Symbol PRELID3BP11provided by HGNC Official Full Name PRELI domain containing 3B pseudogene 11provided by HGNC Primary source HGNC:HGNC:49073 See related Ensembl:ENSG00000231108 AllianceGenome:HGNC:49073 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SLMO2P11
PRELID3BP2, Official Symbol PRELID3BP2provided by HGNC Official Full Name PRELI domain containing 3B pseudogene 2provided by HGNC Primary source HGNC:HGNC:49064 See related Ensembl:ENSG00000271242 AllianceGenome:HGNC:49064 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SLMO2P2
PRELID3BP3, Official Symbol PRELID3BP3provided by HGNC Official Full Name PRELI domain containing 3B pseudogene 3provided by HGNC Primary source HGNC:HGNC:49065 See related AllianceGenome:HGNC:49065 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SLMO2P3
PRELID3BP4, Official Symbol PRELID3BP4provided by HGNC Official Full Name PRELI domain containing 3B pseudogene 4provided by HGNC Primary source HGNC:HGNC:49066 See related Ensembl:ENSG00000251163 AllianceGenome:HGNC:49066 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRELID3BP5, Official Symbol PRELID3BP5provided by HGNC Official Full Name PRELI domain containing 3B pseudogene 5provided by HGNC Primary source HGNC:HGNC:49067 See related Ensembl:ENSG00000251656 AllianceGenome:HGNC:49067 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRELID3BP8, Official Symbol PRELID3BP8provided by HGNC Official Full Name PRELI domain containing 3B pseudogene 8provided by HGNC Primary source HGNC:HGNC:49070 See related Ensembl:ENSG00000270741 AllianceGenome:HGNC:49070 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRELP, Official Symbol PRELPprovided by HGNC Official Full Name proline and arginine rich end leucine rich repeat proteinprovided by HGNC Primary source HGNC:HGNC:9357 See related Ensembl:ENSG00000188783 MIM:601914; AllianceGenome:HGNC:9357 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MST161; SLRR2A; MSTP161 Summary The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 42.7), fat (RPKM 41.5) and 22 other tissues See more Orthologs mouse all
PREP, Official Symbol PREPprovided by HGNC Official Full Name prolyl endopeptidaseprovided by HGNC Primary source HGNC:HGNC:9358 See related Ensembl:ENSG00000085377 MIM:600400; AllianceGenome:HGNC:9358 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PE; PEP Summary The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008] Annotation information Note: The official gene symbol PREP (prolyl endopeptidase) on GeneID: 5550 can be confused with the alias for presequence protease (PREP) on GeneID: 10531 whose official symbol is PITRM1 (pitrilysin metallopeptidase 1). [20 Jun 2018] Expression Ubiquitous expression in colon (RPKM 8.2), testis (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
PREPL, Official Symbol PREPLprovided by HGNC Official Full Name prolyl endopeptidase likeprovided by HGNC Primary source HGNC:HGNC:30228 See related Ensembl:ENSG00000138078 MIM:609557; AllianceGenome:HGNC:30228 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMS22 Summary The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010] Expression Broad expression in brain (RPKM 66.6), kidney (RPKM 33.1) and 24 other tissues See more Orthologs mouse all
PREX1, Official Symbol PREX1provided by HGNC Official Full Name phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1provided by HGNC Primary source HGNC:HGNC:32594 See related Ensembl:ENSG00000124126 MIM:606905; AllianceGenome:HGNC:32594 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P-REX1 Summary The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 30.0), brain (RPKM 23.2) and 23 other tissues See more Orthologs mouse all
PREX2, Official Symbol PREX2provided by HGNC Official Full Name phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2provided by HGNC Primary source HGNC:HGNC:22950 See related Ensembl:ENSG00000046889 MIM:612139; AllianceGenome:HGNC:22950 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEP.2; DEPDC2; P-REX2; PPP1R129 Summary The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016] Expression Broad expression in fat (RPKM 6.7), brain (RPKM 5.0) and 22 other tissues See more Orthologs mouse all
PRF1, Official Symbol PRF1provided by HGNC Official Full Name perforin 1provided by HGNC Primary source HGNC:HGNC:9360 See related Ensembl:ENSG00000180644 MIM:170280; AllianceGenome:HGNC:9360 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P1; PFP; HPLH2 Summary This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017] Expression Biased expression in spleen (RPKM 24.2), bone marrow (RPKM 10.6) and 12 other tissues See more Orthologs mouse all
PRG2, Official Symbol PRG2provided by HGNC Official Full Name proteoglycan 2, pro eosinophil major basic proteinprovided by HGNC Primary source HGNC:HGNC:9362 See related Ensembl:ENSG00000186652 MIM:605601; AllianceGenome:HGNC:9362 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MBP; BMPG; MBP1; proMBP Summary The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] Annotation information Note: MBP is an alias on both PRG2 (Gene ID: 5553, "major basic protein") and MBL2 (Gene ID: 4153, "mannose-binding protein C"). MBP is also the official symbol on GeneID: 4155 (myelin basic protein). [01 Jun 2018] Expression Restricted expression toward placenta (RPKM 1164.9) See more Orthologs mouse all
PRG3, Official Symbol PRG3provided by HGNC Official Full Name proteoglycan 3, pro eosinophil major basic protein 2provided by HGNC Primary source HGNC:HGNC:9363 See related Ensembl:ENSG00000156575 MIM:606814; AllianceGenome:HGNC:9363 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MBP2; MBPH Summary An extracellular matrix structural constituent conferring compression resistance. Involved in several processes, including granulocyte activation; histamine biosynthetic process; and regulation of gene expression. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward bone marrow (RPKM 15.2) See more Orthologs mouse all
PRG4, Official Symbol PRG4provided by HGNC Official Full Name proteoglycan 4provided by HGNC Primary source HGNC:HGNC:9364 See related Ensembl:ENSG00000116690 MIM:604283; AllianceGenome:HGNC:9364 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MSF; SZP; CACP; HAPO; JCAP Summary The protein encoded by this gene is a large proteoglycan that is synthesized by chondrocytes located at the surface of articular cartilage and by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Biased expression in liver (RPKM 61.2), fat (RPKM 6.6) and 1 other tissue See more Orthologs mouse all
PRH1, Official Symbol PRH1provided by HGNC Official Full Name proline rich protein HaeIII subfamily 1provided by HGNC Primary source HGNC:HGNC:9366 See related Ensembl:ENSG00000231887 MIM:168730; AllianceGenome:HGNC:9366 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PA; Db-s; PRH2; PIF-S; Pr1/Pr2; PRP-1/PRP-2 Summary This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. Multiple distinct alleles of this locus including the parotid isoelectric-focusing variant slow (PIF-s), the parotid acidic protein (Pa), and the double band slow (Db-s) isoforms have been characterized. The reference genome encodes the Db-s allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Co-transcription of this gene with adjacent genes has been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015] Expression Restricted expression toward salivary gland (RPKM 9623.1) See more
PRH1-PRR4, Gene symbol PRH1-PRR4 Gene description PRH1-PRR4 readthrough See related Ensembl:ENSG00000275778 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRH1 Summary This locus represents naturally occurring read-through transcription between the neighboring PRH1 (proline-rich protein HaeIII subfamily 1) and PRR4 (proline rich 4, lacrimal) genes on chromosome 12. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] Expression Restricted expression toward salivary gland (RPKM 11792.0) See more
PRH2, Official Symbol PRH2provided by HGNC Official Full Name proline rich protein HaeIII subfamily 2provided by HGNC Primary source HGNC:HGNC:9367 See related Ensembl:ENSG00000134551 MIM:168790; AllianceGenome:HGNC:9367 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Pr; pr1/Pr2; PRP-1/PRP-2 Summary This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. In western population this locus is commonly biallelic and encodes proline-rich protein (PRP) isoforms, PRP-1 and PRP-2. The reference genome encodes the PRP-1 allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Oct 2015] Expression Restricted expression toward salivary gland (RPKM 6639.8) See more Orthologs all
PRICKLE1, Official Symbol PRICKLE1provided by HGNC Official Full Name prickle planar cell polarity protein 1provided by HGNC Primary source HGNC:HGNC:17019 See related Ensembl:ENSG00000139174 MIM:608500; AllianceGenome:HGNC:17019 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RILP; EPM1B Summary This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009] Expression Broad expression in spleen (RPKM 7.7), endometrium (RPKM 6.7) and 23 other tissues See more Orthologs mouse all
PRICKLE2, Official Symbol PRICKLE2provided by HGNC Official Full Name prickle planar cell polarity protein 2provided by HGNC Primary source HGNC:HGNC:20340 See related Ensembl:ENSG00000163637 MIM:608501; AllianceGenome:HGNC:20340 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EPM5 Summary This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011] Expression Broad expression in endometrium (RPKM 7.1), brain (RPKM 5.6) and 22 other tissues See more Orthologs mouse all
PRICKLE2-AS3, Official Symbol PRICKLE2-AS3provided by HGNC Official Full Name PRICKLE2 antisense RNA 3provided by HGNC Primary source HGNC:HGNC:40918 See related Ensembl:ENSG00000226017 AllianceGenome:HGNC:40918 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
PRICKLE2-DT, Official Symbol PRICKLE2-DTprovided by HGNC Official Full Name PRICKLE2 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:52829 See related Ensembl:ENSG00000244564 AllianceGenome:HGNC:52829 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 4.2) See more
PRICKLE3, Official Symbol PRICKLE3provided by HGNC Official Full Name prickle planar cell polarity protein 3provided by HGNC Primary source HGNC:HGNC:6645 See related Ensembl:ENSG00000012211 MIM:300111; AllianceGenome:HGNC:6645 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Pk3; LMO6; LOAM; LOAS Summary LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 16.7), esophagus (RPKM 11.7) and 24 other tissues See more Orthologs mouse all
PRICKLE4, Official Symbol PRICKLE4provided by HGNC Official Full Name prickle planar cell polarity protein 4provided by HGNC Primary source HGNC:HGNC:16805 See related Ensembl:ENSG00000278224 MIM:611389; AllianceGenome:HGNC:16805 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OBTP; OEBT; TOMM6; C6orf49 Summary C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in spleen (RPKM 16.5), gall bladder (RPKM 14.1) and 23 other tissues See more Orthologs mouse all
PRIM1, Official Symbol PRIM1provided by HGNC Official Full Name DNA primase subunit 1provided by HGNC Primary source HGNC:HGNC:9369 See related Ensembl:ENSG00000198056 MIM:176635; AllianceGenome:HGNC:9369 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p49; PDIL Summary The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 10.3), testis (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
PRIM2, Official Symbol PRIM2provided by HGNC Official Full Name DNA primase subunit 2provided by HGNC Primary source HGNC:HGNC:9370 See related Ensembl:ENSG00000146143 MIM:176636; AllianceGenome:HGNC:9370 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p58; PRIM2A Summary This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014] Expression Broad expression in prostate (RPKM 6.3), lymph node (RPKM 1.3) and 21 other tissues See more Orthologs mouse all
PRIMA1, Official Symbol PRIMA1provided by HGNC Official Full Name proline rich membrane anchor 1provided by HGNC Primary source HGNC:HGNC:18319 See related Ensembl:ENSG00000175785 MIM:613851; AllianceGenome:HGNC:18319 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRIMA Summary The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008] Expression Broad expression in esophagus (RPKM 7.2), endometrium (RPKM 3.8) and 19 other tissues See more Orthologs mouse all
PRIMPOL, Official Symbol PRIMPOLprovided by HGNC Official Full Name primase and DNA directed polymeraseprovided by HGNC Primary source HGNC:HGNC:26575 See related Ensembl:ENSG00000164306 MIM:615421; AllianceGenome:HGNC:26575 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MYP22; CCDC111; Primpol1 Summary This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in ovary (RPKM 5.3), endometrium (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
PRKAA1, Official Symbol PRKAA1provided by HGNC Official Full Name protein kinase AMP-activated catalytic subunit alpha 1provided by HGNC Primary source HGNC:HGNC:9376 See related Ensembl:ENSG00000132356 MIM:602739; AllianceGenome:HGNC:9376 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AMPK; AMPKa1; AMPK alpha 1 Summary The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in gall bladder (RPKM 18.4), thyroid (RPKM 16.3) and 25 other tissues See more Orthologs mouse all