psui3905/ncbi_genes_summary huggingface dataset:
PRRC2A, Official Symbol PRRC2Aprovided by HGNC Official Full Name proline rich coiled-coil 2Aprovided by HGNC Primary source HGNC:HGNC:13918 See related Ensembl:ENSG00000204469 MIM:142580; AllianceGenome:HGNC:13918 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 G2; BAT2; D6S51; D6S51E Summary A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] Expression Broad expression in testis (RPKM 81.0), ovary (RPKM 32.9) and 25 other tissues See more Orthologs mouse all
PRRC2B, Official Symbol PRRC2Bprovided by HGNC Official Full Name proline rich coiled-coil 2Bprovided by HGNC Primary source HGNC:HGNC:28121 See related Ensembl:ENSG00000288701 MIM:619544; AllianceGenome:HGNC:28121 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 BAT2L; BAT2L1; LQFBS-1; KIAA0515 Summary Enables RNA binding activity. Predicted to be involved in cell differentiation. Predicted to act upstream of or within in utero embryonic development. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 18.3), ovary (RPKM 17.4) and 25 other tissues See more Orthologs mouse all
PRRC2C, Official Symbol PRRC2Cprovided by HGNC Official Full Name proline rich coiled-coil 2Cprovided by HGNC Primary source HGNC:HGNC:24903 See related Ensembl:ENSG00000117523 MIM:617373; AllianceGenome:HGNC:24903 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 XTP2; BAT2D1; BAT2L2; BAT2-iso Summary Enables protein C-terminus binding activity. Involved in stress granule assembly. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 24.0), lymph node (RPKM 17.9) and 25 other tissues See more Orthologs mouse all
PRRG1, Official Symbol PRRG1provided by HGNC Official Full Name proline rich and Gla domain 1provided by HGNC Primary source HGNC:HGNC:9469 See related Ensembl:ENSG00000130962 MIM:300935; AllianceGenome:HGNC:9469 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 PRGP1 Summary This gene encodes a vitamin K-dependent, gamma-carboxyglutamic acid (Gla)-containing, single-pass transmembrane protein. This protein contains a Gla domain at the N-terminus, preceded by a propeptide sequence required for post-translational gamma-carboxylation of specific glutamic acid residues by a vitamin K-dependent gamma-carboxylase. The C-terminus is proline-rich containing PPXY and PXXP motifs found in a variety of signaling and cytoskeletal proteins. This gene is highly expressed in the spinal cord. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in brain (RPKM 6.8), gall bladder (RPKM 4.8) and 23 other tissues See more Orthologs mouse all
PRRG2, Official Symbol PRRG2provided by HGNC Official Full Name proline rich and Gla domain 2provided by HGNC Primary source HGNC:HGNC:9470 See related Ensembl:ENSG00000126460 MIM:604429; AllianceGenome:HGNC:9470 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 PRGP2 Summary The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Expression Broad expression in duodenum (RPKM 5.0), thyroid (RPKM 4.3) and 18 other tissues See more Orthologs mouse all
PRRG3, Official Symbol PRRG3provided by HGNC Official Full Name proline rich and Gla domain 3provided by HGNC Primary source HGNC:HGNC:30798 See related Ensembl:ENSG00000130032 MIM:300685; AllianceGenome:HGNC:30798 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 TMG3; PRGP3 Summary This gene encodes a protein which contains a vitamin K-dependent carboxylation/gamma-carboxyglutamic domain. The encoded protein is a member of a family of vitamin K-dependent transmembrane proteins which contain a glutamate-rich extracellular domain. [provided by RefSeq, Aug 2011] Expression Broad expression in brain (RPKM 1.6), endometrium (RPKM 0.8) and 17 other tissues See more Orthologs mouse all
PRRG4, Official Symbol PRRG4provided by HGNC Official Full Name proline rich and Gla domain 4provided by HGNC Primary source HGNC:HGNC:30799 See related Ensembl:ENSG00000135378 MIM:611690; AllianceGenome:HGNC:30799 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 TMG4; PRGP4 Summary Enables WW domain binding activity. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in esophagus (RPKM 11.6), skin (RPKM 9.5) and 18 other tissues See more Orthologs mouse all
PRRT1, Official Symbol PRRT1provided by HGNC Official Full Name proline rich transmembrane protein 1provided by HGNC Primary source HGNC:HGNC:13943 See related Ensembl:ENSG00000204314 MIM:618297; AllianceGenome:HGNC:13943 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 NG5; DSPD1; C6orf31; IFITMD7; SynDIG4 Summary Enables identical protein binding activity. Predicted to be involved in several processes, including long-term synaptic depression; protein localization to cell surface; and regulation of AMPA receptor activity. Predicted to act upstream of or within several processes, including learning or memory; long-term synaptic potentiation; and synapse organization. Predicted to be located in postsynaptic density membrane and synaptic vesicle membrane. Predicted to be active in glutamatergic synapse and membrane. Predicted to be integral component of postsynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 24.0), ovary (RPKM 12.1) and 6 other tissues See more Orthologs mouse all
PRRT1B, Official Symbol PRRT1Bprovided by HGNC Official Full Name proline rich transmembrane protein 1Bprovided by HGNC Primary source HGNC:HGNC:53642 See related Ensembl:ENSG00000283526 AllianceGenome:HGNC:53642 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 DSPD2; IFITMD8 Summary Predicted to be integral component of membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lung (RPKM 2.3), prostate (RPKM 1.1) and 8 other tissues See more Orthologs mouse all
PRRT2, Official Symbol PRRT2provided by HGNC Official Full Name proline rich transmembrane protein 2provided by HGNC Primary source HGNC:HGNC:30500 See related Ensembl:ENSG00000167371 MIM:614386; AllianceGenome:HGNC:30500 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 PKC; EKD1; ICCA; BFIC2; BFIS2; DSPB3; DYT10; FICCA; IFITMD1 Summary This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in brain (RPKM 25.3), ovary (RPKM 15.9) and 16 other tissues See more Orthologs mouse all
PRRT3, Official Symbol PRRT3provided by HGNC Official Full Name proline rich transmembrane protein 3provided by HGNC Primary source HGNC:HGNC:26591 See related Ensembl:ENSG00000163704 MIM:619993; AllianceGenome:HGNC:26591 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 be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 3.4), prostate (RPKM 1.2) and 21 other tissues See more Orthologs mouse all
PRRT3-AS1, Official Symbol PRRT3-AS1provided by HGNC Official Full Name PRRT3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41151 See related Ensembl:ENSG00000230082 MIM:619106; AllianceGenome:HGNC:41151 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 Broad expression in fat (RPKM 4.4), prostate (RPKM 3.3) and 23 other tissues See more
PRRT4, Official Symbol PRRT4provided by HGNC Official Full Name proline rich transmembrane protein 4provided by HGNC Primary source HGNC:HGNC:37280 See related Ensembl:ENSG00000224940 AllianceGenome:HGNC:37280 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 be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 11.2) and fat (RPKM 5.1) See more Orthologs mouse all
PRRX1, Official Symbol PRRX1provided by HGNC Official Full Name paired related homeobox 1provided by HGNC Primary source HGNC:HGNC:9142 See related Ensembl:ENSG00000116132 MIM:167420; AllianceGenome:HGNC:9142 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 PMX1; PRX1; AGOTC; PHOX1; PRX-1 Summary The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008] Expression Broad expression in endometrium (RPKM 34.6), fat (RPKM 27.9) and 17 other tissues See more Orthologs mouse all
PRRX2, Official Symbol PRRX2provided by HGNC Official Full Name paired related homeobox 2provided by HGNC Primary source HGNC:HGNC:21338 See related Ensembl:ENSG00000167157 MIM:604675; AllianceGenome:HGNC:21338 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 PMX2; PRX2 Summary The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. [provided by RefSeq, Jul 2008] Expression Broad expression in skin (RPKM 3.1), prostate (RPKM 3.0) and 17 other tissues See more Orthologs mouse all
PRRX2-AS1, Official Symbol PRRX2-AS1provided by HGNC Official Full Name PRRX2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50684 See related Ensembl:ENSG00000236024 AllianceGenome:HGNC:50684 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 5.0) See more
PRSS1, Official Symbol PRSS1provided by HGNC Official Full Name serine protease 1provided by HGNC Primary source HGNC:HGNC:9475 See related Ensembl:ENSG00000204983 MIM:276000; AllianceGenome:HGNC:9475 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 TRP1; TRY1; TRY4; TRYP1 Summary This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008] Expression Restricted expression toward pancreas (RPKM 45120.4) See more Orthologs all
PRSS12, Official Symbol PRSS12provided by HGNC Official Full Name serine protease 12provided by HGNC Primary source HGNC:HGNC:9477 See related Ensembl:ENSG00000164099 MIM:606709; AllianceGenome:HGNC:9477 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 MRT1; BSSP3; BSSP-3 Summary This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017] Expression Broad expression in testis (RPKM 7.3), gall bladder (RPKM 6.2) and 18 other tissues See more Orthologs mouse all
PRSS16, Official Symbol PRSS16provided by HGNC Official Full Name serine protease 16provided by HGNC Primary source HGNC:HGNC:9480 See related Ensembl:ENSG00000112812 MIM:607169; AllianceGenome:HGNC:9480 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 TSSP Summary This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 6.8), stomach (RPKM 3.4) and 17 other tissues See more Orthologs mouse all
PRSS2, Official Symbol PRSS2provided by HGNC Official Full Name serine protease 2provided by HGNC Primary source HGNC:HGNC:9483 See related Ensembl:ENSG00000275896 MIM:601564; AllianceGenome:HGNC:9483 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 TRY2; TRY8; TRYP2 Summary This gene belongs to the trypsin family of serine proteases and encodes anionic trypsinogen. It is part of a cluster of trypsinogen genes that are located within the T cell receptor beta locus. Enzymes of this family cleave peptide bonds that follow lysine or arginine residues. This protein is found at high levels in pancreatic juice and its upregulation is a characteristic feature of pancreatitis. This protein has also been found to activate pro-urokinase in ovarian tumors, suggesting a function in tumor invasion. In addition, this enzyme is able to cleave across the type II collagen triple helix in rheumatoid arthritis synovitis tissue, potentially participating in the degradation of type II collagen-rich cartilage matrix. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2015] Orthologs all
PRSS21, Official Symbol PRSS21provided by HGNC Official Full Name serine protease 21provided by HGNC Primary source HGNC:HGNC:9485 See related Ensembl:ENSG00000007038 MIM:608159; AllianceGenome:HGNC:9485 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 ESP1; ESP-1; TEST1; TESTISIN Summary This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] Expression Biased expression in testis (RPKM 26.0), bone marrow (RPKM 4.4) and 4 other tissues See more Orthologs all
PRSS22, Official Symbol PRSS22provided by HGNC Official Full Name serine protease 22provided by HGNC Primary source HGNC:HGNC:14368 See related Ensembl:ENSG00000005001 MIM:609343; AllianceGenome:HGNC:14368 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 BSSP-4; SP001LA; hBSSP-4 Summary This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 17.2), stomach (RPKM 8.5) and 11 other tissues See more Orthologs mouse all
PRSS23, Official Symbol PRSS23provided by HGNC Official Full Name serine protease 23provided by HGNC Primary source HGNC:HGNC:14370 See related Ensembl:ENSG00000150687 MIM:618376; AllianceGenome:HGNC:14370 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 SIG13; SPUVE; ZSIG13 Summary This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Ubiquitous expression in gall bladder (RPKM 19.0), urinary bladder (RPKM 17.9) and 24 other tissues See more Orthologs mouse all
PRSS27, Official Symbol PRSS27provided by HGNC Official Full Name serine protease 27provided by HGNC Primary source HGNC:HGNC:15475 See related Ensembl:ENSG00000172382 MIM:608018; AllianceGenome:HGNC:15475 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 MPN; CAPH2 Summary This gene is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Biased expression in esophagus (RPKM 55.3) and skin (RPKM 0.9) See more Orthologs all
PRSS3, Official Symbol PRSS3provided by HGNC Official Full Name serine protease 3provided by HGNC Primary source HGNC:HGNC:9486 See related Ensembl:ENSG00000010438 MIM:613578; AllianceGenome:HGNC:9486 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 T9; MTG; TRY3; TRY4; PRSS4 Summary This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is expressed in the brain and pancreas and is resistant to common trypsin inhibitors. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene is localized to the locus of T cell receptor beta variable orphans on chromosome 9. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2010] Expression Restricted expression toward pancreas (RPKM 3091.3) See more Orthologs all
PRSS30P, Official Symbol PRSS30Pprovided by HGNC Official Full Name serine protease 30, pseudogeneprovided by HGNC Primary source HGNC:HGNC:28753 See related Ensembl:ENSG00000291300 AllianceGenome:HGNC:28753 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Disp; TMPRSS8; TMPRSS8P Expression Biased expression in testis (RPKM 2.9), placenta (RPKM 0.7) and 8 other tissues See more
PRSS33, Official Symbol PRSS33provided by HGNC Official Full Name serine protease 33provided by HGNC Primary source HGNC:HGNC:30405 See related Ensembl:ENSG00000103355 MIM:613797; AllianceGenome:HGNC:30405 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 EOS Summary Enables serine-type endopeptidase activity. Involved in protein kinase C signaling and proteolysis. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PRSS35, Official Symbol PRSS35provided by HGNC Official Full Name serine protease 35provided by HGNC Primary source HGNC:HGNC:21387 See related Ensembl:ENSG00000146250 AllianceGenome:HGNC:21387 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 C6orf158; dJ223E3.1 Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in ovary (RPKM 5.2), brain (RPKM 3.9) and 14 other tissues See more Orthologs mouse all
PRSS36, Official Symbol PRSS36provided by HGNC Official Full Name serine protease 36provided by HGNC Primary source HGNC:HGNC:26906 See related Ensembl:ENSG00000178226 MIM:610560; AllianceGenome:HGNC:26906 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 Enables serine-type endopeptidase activity. Predicted to be involved in proteolysis. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 1.0), small intestine (RPKM 0.7) and 24 other tissues See more Orthologs mouse all
PRSS37, Official Symbol PRSS37provided by HGNC Official Full Name serine protease 37provided by HGNC Primary source HGNC:HGNC:29211 See related Ensembl:ENSG00000165076 AllianceGenome:HGNC:29211 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 TRYX2 Summary Predicted to enable serine-type endopeptidase activity. Involved in positive regulation of acrosome reaction and regulation of protein processing. Located in acrosomal vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 1.6) See more Orthologs mouse all
PRSS38, Official Symbol PRSS38provided by HGNC Official Full Name serine protease 38provided by HGNC Primary source HGNC:HGNC:29625 See related Ensembl:ENSG00000185888 AllianceGenome:HGNC:29625 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 MPN2 Summary Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 1.8) See more Orthologs mouse all
PRSS3P4, Official Symbol PRSS3P4provided by HGNC Official Full Name PRSS3 pseudogene 4provided by HGNC Primary source HGNC:HGNC:43789 See related Ensembl:ENSG00000204982 AllianceGenome:HGNC:43789 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRSS41, Official Symbol PRSS41provided by HGNC Official Full Name serine protease 41provided by HGNC Primary source HGNC:HGNC:30715 See related Ensembl:ENSG00000215148 AllianceGenome:HGNC:30715 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 TESSP1 Summary Predicted to enable sodium channel regulator activity. Predicted to be involved in proteolysis. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
PRSS42P, Official Symbol PRSS42Pprovided by HGNC Official Full Name serine protease 42, pseudogeneprovided by HGNC Primary source HGNC:HGNC:30716 See related Ensembl:ENSG00000178055 AllianceGenome:HGNC:30716 Gene type pseudo RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRSS42; TESSP2 Summary This gene encodes a member of a cluster of testis-specific serine proteases. The orthologous mouse gene is expressed during meiosis in pachytene spermatocytes and is required for germ cell survival. This human locus is represented as a pseudogene because it contains an early stop codon that disrupts the trypsin domain, compared to the mouse ortholog. [provided by RefSeq, Jan 2019] Expression Low expression observed in reference dataset See more Orthologs all
PRSS43P, Official Symbol PRSS43Pprovided by HGNC Official Full Name serine protease 43, pseudogeneprovided by HGNC Primary source HGNC:HGNC:37323 See related Ensembl:ENSG00000286651 AllianceGenome:HGNC:37323 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRSS43; TESSP3 Summary Predicted to act upstream of or within germ cell development and spermatogenesis. Predicted to be anchored component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 1.9), thyroid (RPKM 0.8) and 9 other tissues See more Orthologs all
PRSS44P, Official Symbol PRSS44Pprovided by HGNC Official Full Name serine protease 44, pseudogeneprovided by HGNC Primary source HGNC:HGNC:37324 See related AllianceGenome:HGNC:37324 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRSS44; TESSP4; TESSP-4 Summary Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
PRSS46P, Official Symbol PRSS46Pprovided by HGNC Official Full Name serine protease 46, pseudogeneprovided by HGNC Primary source HGNC:HGNC:37325 See related Ensembl:ENSG00000261603 AllianceGenome:HGNC:37325 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRSS46; TESSP6 Summary Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 2.7), thyroid (RPKM 0.5) and 2 other tissues See more Orthologs all
PRSS48, Official Symbol PRSS48provided by HGNC Official Full Name serine protease 48provided by HGNC Primary source HGNC:HGNC:24635 See related Ensembl:ENSG00000189099 AllianceGenome:HGNC:24635 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 ESSPL Summary Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Low expression observed in reference dataset See more Orthologs mouse all
PRSS50, Official Symbol PRSS50provided by HGNC Official Full Name serine protease 50provided by HGNC Primary source HGNC:HGNC:17910 See related Ensembl:ENSG00000283706 MIM:607950; AllianceGenome:HGNC:17910 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 CT20; TSP50 Summary Enables threonine-type endopeptidase activity. Involved in proteolysis. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 18.5) and thyroid (RPKM 1.9) See more Orthologs mouse all
PRSS51, Official Symbol PRSS51provided by HGNC Official Full Name serine protease 51provided by HGNC Primary source HGNC:HGNC:37321 See related Ensembl:ENSG00000253649 AllianceGenome:HGNC:37321 Gene type protein coding RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
PRSS53, Official Symbol PRSS53provided by HGNC Official Full Name serine protease 53provided by HGNC Primary source HGNC:HGNC:34407 See related Ensembl:ENSG00000151006 MIM:610561; AllianceGenome:HGNC:34407 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 POL3S; UNQ308 Summary Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 1.8), spleen (RPKM 1.6) and 25 other tissues See more Orthologs mouse all
PRSS54, Official Symbol PRSS54provided by HGNC Official Full Name serine protease 54provided by HGNC Primary source HGNC:HGNC:26336 See related Ensembl:ENSG00000103023 AllianceGenome:HGNC:26336 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 CT67; KLKBL4 Summary This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015] Expression Biased expression in testis (RPKM 23.6), brain (RPKM 3.1) and 1 other tissue See more Orthologs mouse all
PRSS55, Official Symbol PRSS55provided by HGNC Official Full Name serine protease 55provided by HGNC Primary source HGNC:HGNC:30824 See related Ensembl:ENSG00000184647 MIM:615144; AllianceGenome:HGNC:30824 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 TSP1; CT153; T-SP1; UNQ9391 Summary This gene encodes a member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] Expression Restricted expression toward testis (RPKM 4.4) See more Orthologs mouse all
PRSS56, Official Symbol PRSS56provided by HGNC Official Full Name serine protease 56provided by HGNC Primary source HGNC:HGNC:39433 See related Ensembl:ENSG00000237412 MIM:613858; AllianceGenome:HGNC:39433 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 MCOP6 Summary This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
PRSS57, Official Symbol PRSS57provided by HGNC Official Full Name serine protease 57provided by HGNC Primary source HGNC:HGNC:31397 See related Ensembl:ENSG00000185198 AllianceGenome:HGNC:31397 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 NSP4; PRSSL1; UNQ782 Summary This gene encodes an arginine-specific serine protease and member of the peptidase S1 family of proteins. The encoded protein may undergo proteolytic activation before storage in azurophil granules, in neutrophil cells of the immune system. Following neutrophil activation, the protease is released into the pericellular environment, where it may play a role in defense against microbial pathogens. [provided by RefSeq, Jul 2016] Expression Restricted expression toward bone marrow (RPKM 54.0) See more Orthologs mouse all
PRSS58, Official Symbol PRSS58provided by HGNC Official Full Name serine protease 58provided by HGNC Primary source HGNC:HGNC:39125 See related Ensembl:ENSG00000258223 AllianceGenome:HGNC:39125 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 TRY1; PRSS1; TRYX3; UNQ2540 Summary This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq, Jul 2008] Orthologs mouse all
PRSS8, Official Symbol PRSS8provided by HGNC Official Full Name serine protease 8provided by HGNC Primary source HGNC:HGNC:9491 See related Ensembl:ENSG00000052344 MIM:600823; AllianceGenome:HGNC:9491 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 CAP1; PROSTASIN Summary This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016] Expression Broad expression in small intestine (RPKM 73.7), colon (RPKM 73.6) and 14 other tissues See more Orthologs mouse all
PRTFDC1, Official Symbol PRTFDC1provided by HGNC Official Full Name phosphoribosyl transferase domain containing 1provided by HGNC Primary source HGNC:HGNC:23333 See related Ensembl:ENSG00000099256 MIM:610751; AllianceGenome:HGNC:23333 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 HHGP Summary Enables protein homodimerization activity. Predicted to be involved in purine ribonucleoside salvage. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 14.5), adrenal (RPKM 9.7) and 21 other tissues See more Orthologs mouse all
PRTG, Official Symbol PRTGprovided by HGNC Official Full Name protogeninprovided by HGNC Primary source HGNC:HGNC:26373 See related Ensembl:ENSG00000166450 MIM:613261; AllianceGenome:HGNC:26373 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 IGDCC5 Summary This gene encodes a member of the immunoglobulin superfamily. The encoded transmembrane protein has been associated with the development of various tissues, especially neurogenesis. It has been suggested that this gene may be associated with attention deficit hyperactivity disorder (ADHD). [provided by RefSeq, Nov 2014] Expression Biased expression in thyroid (RPKM 4.7), endometrium (RPKM 1.7) and 7 other tissues See more Orthologs mouse all
PRTN3, Official Symbol PRTN3provided by HGNC Official Full Name proteinase 3provided by HGNC Primary source HGNC:HGNC:9495 See related Ensembl:ENSG00000196415 MIM:177020; AllianceGenome:HGNC:9495 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 MBN; MBT; NP4; P29; PR3; ACPA; AGP7; NP-4; PR-3; CANCA; C-ANCA Summary Enables enzyme binding activity; serine-type endopeptidase activity; and signaling receptor binding activity. Involved in several processes, including mature conventional dendritic cell differentiation; membrane protein ectodomain proteolysis; and neutrophil extravasation. Located in azurophil granule lumen; cytosol; and plasma membrane raft. Colocalizes with plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward bone marrow (RPKM 616.2) See more Orthologs mouse all
PRUNE1, Official Symbol PRUNE1provided by HGNC Official Full Name prune exopolyphosphatase 1provided by HGNC Primary source HGNC:HGNC:13420 See related Ensembl:ENSG00000143363 MIM:617413; AllianceGenome:HGNC:13420 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 PRUNE; DRES17; HTCD37; NMIHBA; DRES-17; H-PRUNE Summary This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in thyroid (RPKM 21.1), heart (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
PRUNE2, Official Symbol PRUNE2provided by HGNC Official Full Name prune homolog 2 with BCH domainprovided by HGNC Primary source HGNC:HGNC:25209 See related Ensembl:ENSG00000106772 MIM:610691; AllianceGenome:HGNC:25209 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 BMCC1; BNIPXL; C9orf65; KIAA0367 Summary The protein encoded by this gene belongs to the B-cell CLL/lymphoma 2 and adenovirus E1B 19 kDa interacting family, whose members play roles in many cellular processes including apotosis, cell transformation, and synaptic function. Several functions for this protein have been demonstrated including suppression of Ras homolog family member A activity, which results in reduced stress fiber formation and suppression of oncogenic cellular transformation. A high molecular weight isoform of this protein has also been shown to colocalize with Adaptor protein complex 2, beta-Adaptin and endodermal markers, suggesting an involvement in post-endocytic trafficking. In prostate cancer cells, this gene acts as a tumor suppressor and its expression is regulated by prostate cancer antigen 3, a non-protein coding gene on the opposite DNA strand in an intron of this gene. Prostate cancer antigen 3 regulates levels of this gene through formation of a double-stranded RNA that undergoes adenosine deaminase actin on RNA-dependent adenosine-to-inosine RNA editing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] Expression Broad expression in prostate (RPKM 10.8), brain (RPKM 9.0) and 20 other tissues See more Orthologs mouse all
PRX, Official Symbol PRXprovided by HGNC Official Full Name periaxinprovided by HGNC Primary source HGNC:HGNC:13797 See related Ensembl:ENSG00000105227 MIM:605725; AllianceGenome:HGNC:13797 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 CMT4F Summary This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 13.6), ovary (RPKM 2.9) and 16 other tissues See more Orthologs mouse all
PRXL2A, Official Symbol PRXL2Aprovided by HGNC Official Full Name peroxiredoxin like 2Aprovided by HGNC Primary source HGNC:HGNC:28651 See related Ensembl:ENSG00000122378 MIM:617165; AllianceGenome:HGNC:28651 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 Adrx; PAMM; FAM213A; C10orf58 Summary Enables antioxidant activity. Involved in regulation of osteoclast differentiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 75.6), brain (RPKM 14.4) and 16 other tissues See more Orthologs mouse all