psui3905/ncbi_genes_summary huggingface dataset:
PSMD4, Official Symbol PSMD4provided by HGNC Official Full Name proteasome 26S subunit ubiquitin receptor, non-ATPase 4provided by HGNC Primary source HGNC:HGNC:9561 See related Ensembl:ENSG00000159352 MIM:601648; AllianceGenome:HGNC:9561 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 AF; ASF; S5A; AF-1; MCB1; Rpn10; pUB-R5 Summary The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 64.3), placenta (RPKM 46.6) and 25 other tissues See more Orthologs mouse all
PSMD5, Official Symbol PSMD5provided by HGNC Official Full Name proteasome 26S subunit, non-ATPase 5provided by HGNC Primary source HGNC:HGNC:9563 See related Ensembl:ENSG00000095261 MIM:604452; AllianceGenome:HGNC:9563 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 S5B Summary The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in urinary bladder (RPKM 4.7), adrenal (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
PSMD6, Official Symbol PSMD6provided by HGNC Official Full Name proteasome 26S subunit, non-ATPase 6provided by HGNC Primary source HGNC:HGNC:9564 See related Ensembl:ENSG00000163636 MIM:617857; AllianceGenome:HGNC:9564 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 S10; Rpn7; p42A; p44S10; SGA-113M Summary This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in testis (RPKM 47.2), bone marrow (RPKM 29.6) and 25 other tissues See more Orthologs mouse all
PSMD6-AS2, Official Symbol PSMD6-AS2provided by HGNC Official Full Name PSMD6 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:44125 See related Ensembl:ENSG00000239653 AllianceGenome:HGNC:44125 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 bone marrow (RPKM 2.5), testis (RPKM 1.3) and 25 other tissues See more
PSMD7, Official Symbol PSMD7provided by HGNC Official Full Name proteasome 26S subunit, non-ATPase 7provided by HGNC Primary source HGNC:HGNC:9565 See related Ensembl:ENSG00000103035 MIM:157970; AllianceGenome:HGNC:9565 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 P40; S12; Rpn8; MOV34 Summary The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 46.9), placenta (RPKM 35.0) and 25 other tissues See more Orthologs mouse all
PSMD7-DT, Official Symbol PSMD7-DTprovided by HGNC Official Full Name PSMD7 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:53056 See related Ensembl:ENSG00000261404 AllianceGenome:HGNC:53056 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 1.1) See more
PSMD7P1, Official Symbol PSMD7P1provided by HGNC Official Full Name proteasome 26S subunit, non-ATPase 7 pseudogene 1provided by HGNC Primary source HGNC:HGNC:7202 See related AllianceGenome:HGNC:7202 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 MOV34L; PSMD7L
PSMD8, Official Symbol PSMD8provided by HGNC Official Full Name proteasome 26S subunit, non-ATPase 8provided by HGNC Primary source HGNC:HGNC:9566 See related Ensembl:ENSG00000099341 MIM:617844; AllianceGenome:HGNC:9566 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 S14; p31; HIP6; HYPF; Nin1p; Rpn12; HEL-S-91n Summary The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 59.1), fat (RPKM 53.2) and 25 other tissues See more Orthologs mouse all
PSMD8P1, Official Symbol PSMD8P1provided by HGNC Official Full Name proteasome 26S subunit, non-ATPase, 8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:34013 See related Ensembl:ENSG00000228264 AllianceGenome:HGNC:34013 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PSMD9, Official Symbol PSMD9provided by HGNC Official Full Name proteasome 26S subunit, non-ATPase 9provided by HGNC Primary source HGNC:HGNC:9567 See related Ensembl:ENSG00000110801 MIM:603146; AllianceGenome:HGNC:9567 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 p27; Rpn4 Summary The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in bone marrow (RPKM 16.1), kidney (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
PSME1, Official Symbol PSME1provided by HGNC Official Full Name proteasome activator subunit 1provided by HGNC Primary source HGNC:HGNC:9568 See related Ensembl:ENSG00000092010 MIM:600654; AllianceGenome:HGNC:9568 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 PA28A; IFI5111; REGalpha; PA28alpha; HEL-S-129m Summary The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in lymph node (RPKM 102.3), spleen (RPKM 98.9) and 25 other tissues See more Orthologs mouse all
PSME2, Official Symbol PSME2provided by HGNC Official Full Name proteasome activator subunit 2provided by HGNC Primary source HGNC:HGNC:9569 See related Ensembl:ENSG00000100911 MIM:602161; AllianceGenome:HGNC:9569 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 PA28B; REGbeta; PA28beta Summary The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the beta subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three beta and three alpha subunits combine to form a heterohexameric ring. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 84.1), small intestine (RPKM 71.2) and 24 other tissues See more Orthologs mouse all
PSME2P1, Official Symbol PSME2P1provided by HGNC Official Full Name proteasome activator subunit 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:20632 See related Ensembl:ENSG00000238000 AllianceGenome:HGNC:20632 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 PSME2P
PSME2P2, Official Symbol PSME2P2provided by HGNC Official Full Name proteasome activator subunit 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:30160 See related Ensembl:ENSG00000225131 AllianceGenome:HGNC:30160 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PSME2P3, Official Symbol PSME2P3provided by HGNC Official Full Name proteasome activator subunit 2 pseudogene 3provided by HGNC Primary source HGNC:HGNC:30156 See related Ensembl:ENSG00000248988 AllianceGenome:HGNC:30156 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PSME2P4, Official Symbol PSME2P4provided by HGNC Official Full Name proteasome activator subunit 2 pseudogene 4provided by HGNC Primary source HGNC:HGNC:30157 See related Ensembl:ENSG00000251332 AllianceGenome:HGNC:30157 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PSME2P5, Official Symbol PSME2P5provided by HGNC Official Full Name proteasome activator subunit 2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:30158 See related Ensembl:ENSG00000253208 AllianceGenome:HGNC:30158 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PSME2P6, Official Symbol PSME2P6provided by HGNC Official Full Name proteasome activator subunit 2 pseudogene 6provided by HGNC Primary source HGNC:HGNC:30159 See related Ensembl:ENSG00000227462 AllianceGenome:HGNC:30159 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PSME3, Official Symbol PSME3provided by HGNC Official Full Name proteasome activator subunit 3provided by HGNC Primary source HGNC:HGNC:9570 See related Ensembl:ENSG00000131467 MIM:605129; AllianceGenome:HGNC:9570 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 Ki; PA28G; HEL-S-283; PA28gamma; REG-GAMMA; PA28-gamma Summary The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Expression Ubiquitous expression in esophagus (RPKM 20.0), urinary bladder (RPKM 19.8) and 25 other tissues See more Orthologs mouse all
PSME3IP1, Official Symbol PSME3IP1provided by HGNC Official Full Name proteasome activator subunit 3 interacting protein 1provided by HGNC Primary source HGNC:HGNC:29856 See related Ensembl:ENSG00000172775 MIM:617766; AllianceGenome:HGNC:29856 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 CDA10; NIP30; PIP30; CDA018; FAM192A; C16orf94 Summary Involved in negative regulation of proteasomal protein catabolic process and negative regulation of protein binding activity. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 12.2), testis (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
PSME4, Official Symbol PSME4provided by HGNC Official Full Name proteasome activator subunit 4provided by HGNC Primary source HGNC:HGNC:20635 See related Ensembl:ENSG00000068878 MIM:607705; AllianceGenome:HGNC:20635 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 PA200 Summary Predicted to enable lysine-acetylated histone binding activity; peptidase activator activity; and proteasome binding activity. Predicted to be involved in DNA repair; proteasomal ubiquitin-independent protein catabolic process; and spermatogenesis, exchange of chromosomal proteins. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 32.8), endometrium (RPKM 14.4) and 24 other tissues See more Orthologs mouse all
PSMF1, Official Symbol PSMF1provided by HGNC Official Full Name proteasome inhibitor subunit 1provided by HGNC Primary source HGNC:HGNC:9571 See related Ensembl:ENSG00000125818 MIM:617858; AllianceGenome:HGNC:9571 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 PI31 Summary The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 17.3), ovary (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
PSMG1, Official Symbol PSMG1provided by HGNC Official Full Name proteasome assembly chaperone 1provided by HGNC Primary source HGNC:HGNC:3043 See related Ensembl:ENSG00000183527 MIM:605296; AllianceGenome:HGNC:3043 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 PAC1; DSCR2; PAC-1; C21LRP; LRPC21 Summary Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and nucleoplasm. Part of chaperone complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 57.7), thyroid (RPKM 14.4) and 23 other tissues See more Orthologs mouse all
PSMG2, Official Symbol PSMG2provided by HGNC Official Full Name proteasome assembly chaperone 2provided by HGNC Primary source HGNC:HGNC:24929 See related Ensembl:ENSG00000128789 MIM:609702; AllianceGenome:HGNC:24929 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 PAC2; HCCA3; CLAST3; MDS003; PRAAS4; HsT1707; TNFSF5IP1 Summary Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly. Located in nucleus. Part of chaperone complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 46.4), bone marrow (RPKM 28.3) and 25 other tissues See more Orthologs mouse all
PSMG3, Official Symbol PSMG3provided by HGNC Official Full Name proteasome assembly chaperone 3provided by HGNC Primary source HGNC:HGNC:22420 See related Ensembl:ENSG00000157778 MIM:617528; AllianceGenome:HGNC:22420 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 PAC3; C7orf48 Summary Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 8.7), skin (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
PSMG3-AS1, Official Symbol PSMG3-AS1provided by HGNC Official Full Name PSMG3 antisense RNA 1 (head to head)provided by HGNC Primary source HGNC:HGNC:22230 See related Ensembl:ENSG00000230487 AllianceGenome:HGNC:22230 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 Ubiquitous expression in brain (RPKM 2.5), fat (RPKM 2.0) and 25 other tissues See more
PSMG4, Official Symbol PSMG4provided by HGNC Official Full Name proteasome assembly chaperone 4provided by HGNC Primary source HGNC:HGNC:21108 See related Ensembl:ENSG00000180822 MIM:617550; AllianceGenome:HGNC:21108 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 PAC4; C6orf86; bA506K6.2 Summary Predicted to be involved in proteasome assembly. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 1.1), prostate (RPKM 1.0) and 25 other tissues See more Orthologs mouse all
PSORS1C1, Official Symbol PSORS1C1provided by HGNC Official Full Name psoriasis susceptibility 1 candidate 1provided by HGNC Primary source HGNC:HGNC:17202 See related Ensembl:ENSG00000204540 MIM:613525; AllianceGenome:HGNC:17202 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 SEEK1; C6orf16 Summary This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011] Expression Biased expression in testis (RPKM 11.7), skin (RPKM 0.9) and 1 other tissue See more Orthologs all
PSORS1C2, Official Symbol PSORS1C2provided by HGNC Official Full Name psoriasis susceptibility 1 candidate 2provided by HGNC Primary source HGNC:HGNC:17199 See related Ensembl:ENSG00000204538 MIM:613526; AllianceGenome:HGNC:17199 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 SPR1; C6orf17 Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward skin (RPKM 17.2) See more Orthologs mouse all
PSORS1C3, Official Symbol PSORS1C3provided by HGNC Official Full Name psoriasis susceptibility 1 candidate 3provided by HGNC Primary source HGNC:HGNC:17203 See related MIM:618690; AllianceGenome:HGNC:17203 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 NCRNA00196 Expression Broad expression in duodenum (RPKM 1.5), gall bladder (RPKM 1.4) and 16 other tissues See more
PSPC1, Official Symbol PSPC1provided by HGNC Official Full Name paraspeckle component 1provided by HGNC Primary source HGNC:HGNC:20320 See related Ensembl:ENSG00000121390 MIM:612408; AllianceGenome:HGNC:20320 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 PSP1 Summary This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein structures that include a non-coding RNA, NEAT1/Men epsilon/beta, and the Drosophila Behavior Human Splicing family of proteins, which include the product of this gene and the P54NRB/NONO and PSF/SFPQ proteins. Paraspeckles may function in the control of gene expression via an RNA nuclear retention mechanism. The protein encoded by this gene is found in paraspeckles in transcriptionally active cells, but it localizes to unique cap structures at the nucleolar periphery when RNA polymerase II transcription is inhibited, or during telophase. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene, which is also located on chromosome 13, has been identified. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in testis (RPKM 5.7), bone marrow (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
PSPC1-AS2, Official Symbol PSPC1-AS2provided by HGNC Official Full Name PSPC1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:52951 See related AllianceGenome:HGNC:52951 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
PSPC1P1, Official Symbol PSPC1P1provided by HGNC Official Full Name paraspeckle component 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:42033 See related Ensembl:ENSG00000227879 AllianceGenome:HGNC:42033 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PSPC1P2, Official Symbol PSPC1P2provided by HGNC Official Full Name paraspeckle component 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:42643 See related Ensembl:ENSG00000244615 AllianceGenome:HGNC:42643 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PSPH, Official Symbol PSPHprovided by HGNC Official Full Name phosphoserine phosphataseprovided by HGNC Primary source HGNC:HGNC:9577 See related Ensembl:ENSG00000146733 MIM:172480; AllianceGenome:HGNC:9577 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 PSP; PSPHD Summary The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 3.8), thyroid (RPKM 3.1) and 25 other tissues See more Orthologs mouse all
PSPHP1, Official Symbol PSPHP1provided by HGNC Official Full Name phosphoserine phosphatase pseudogene 1provided by HGNC Primary source HGNC:HGNC:9578 See related Ensembl:ENSG00000226278 MIM:604239; AllianceGenome:HGNC:9578 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 CO9; PSPHL Summary This gene is significantly upregulated in Fanconi's anemia fibroblasts but downregulated or absent in fibroblasts from normal donors. It is also highly expressed in FA B-cells of complementation group A. [provided by RefSeq, Jul 2008]
PSPN, Official Symbol PSPNprovided by HGNC Official Full Name persephinprovided by HGNC Primary source HGNC:HGNC:9579 See related Ensembl:ENSG00000125650 MIM:602921; AllianceGenome:HGNC:9579 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 PSP Summary This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Elevated expression of this gene has been observed in oral squamous cell carcinoma. [provided by RefSeq, Aug 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
PSRC1, Official Symbol PSRC1provided by HGNC Official Full Name proline and serine rich coiled-coil 1provided by HGNC Primary source HGNC:HGNC:24472 See related Ensembl:ENSG00000134222 MIM:613126; AllianceGenome:HGNC:24472 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 DDA3; FP3214 Summary This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014] Expression Broad expression in brain (RPKM 9.0), testis (RPKM 4.6) and 23 other tissues See more Orthologs mouse all
PSTK, Official Symbol PSTKprovided by HGNC Official Full Name phosphoseryl-tRNA kinaseprovided by HGNC Primary source HGNC:HGNC:28578 See related Ensembl:ENSG00000179988 MIM:611310; AllianceGenome:HGNC:28578 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 C10orf89 Summary Predicted to enable kinase activity and tRNA binding activity. Predicted to be involved in phosphorylation; selenocysteinyl-tRNA(Sec) biosynthetic process; and translation. Predicted to act upstream of or within selenocysteine incorporation. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 1.8), testis (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
PSTPIP1, Official Symbol PSTPIP1provided by HGNC Official Full Name proline-serine-threonine phosphatase interacting protein 1provided by HGNC Primary source HGNC:HGNC:9580 See related Ensembl:ENSG00000140368 MIM:606347; AllianceGenome:HGNC:9580 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 H-PIP; PAPAS; CD2BP1; PSTPIP; CD2BP1L; CD2BP1S Summary This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016] Expression Biased expression in bone marrow (RPKM 17.6), spleen (RPKM 10.0) and 9 other tissues See more Orthologs mouse all
PSTPIP2, Official Symbol PSTPIP2provided by HGNC Official Full Name proline-serine-threonine phosphatase interacting protein 2provided by HGNC Primary source HGNC:HGNC:9581 See related Ensembl:ENSG00000152229 MIM:616046; AllianceGenome:HGNC:9581 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 MAYP Summary Predicted to enable actin filament binding activity. Predicted to be involved in actin filament polymerization. Predicted to be located in cytoskeleton and membrane. Predicted to be active in actin filament; cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 28.6), spleen (RPKM 27.4) and 17 other tissues See more Orthologs mouse all
PTAFR, Official Symbol PTAFRprovided by HGNC Official Full Name platelet activating factor receptorprovided by HGNC Primary source HGNC:HGNC:9582 See related Ensembl:ENSG00000169403 MIM:173393; AllianceGenome:HGNC:9582 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 PAFR Summary This gene encodes a seven-transmembrane G-protein-coupled receptor for platelet-activating factor (PAF) that localizes to lipid rafts and/or caveolae in the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) is a phospholipid that plays a significant role in oncogenic transformation, tumor growth, angiogenesis, metastasis, and pro-inflammatory processes. Binding of PAF to the PAF-receptor (PAFR) stimulates numerous signal transduction pathways including phospholipase C, D, A2, mitogen-activated protein kinases (MAPKs), and the phosphatidylinositol-calcium second messenger system. Following PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR phosphorylation, internalization, and down-regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Broad expression in appendix (RPKM 15.7), bone marrow (RPKM 12.4) and 19 other tissues See more Orthologs mouse all
PTAR1, Official Symbol PTAR1provided by HGNC Official Full Name protein prenyltransferase alpha subunit repeat containing 1provided by HGNC Primary source HGNC:HGNC:30449 See related Ensembl:ENSG00000188647 AllianceGenome:HGNC:30449 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 protein prenyltransferase activity. Predicted to be involved in protein prenylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 7.3), bone marrow (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
PTBP1, Official Symbol PTBP1provided by HGNC Official Full Name polypyrimidine tract binding protein 1provided by HGNC Primary source HGNC:HGNC:9583 See related Ensembl:ENSG00000011304 MIM:600693; AllianceGenome:HGNC:9583 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 PTB; PTB2; PTB3; PTB4; pPTB; HNRPI; PTB-1; PTB-T; HNRNPI; HNRNP-I Summary This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 42.6), bone marrow (RPKM 39.6) and 25 other tissues See more Orthologs mouse all
PTBP1P, Official Symbol PTBP1Pprovided by HGNC Official Full Name polypyrimidine tract binding protein 1 pseudogeneprovided by HGNC Primary source HGNC:HGNC:20030 See related AllianceGenome:HGNC:20030 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 HNRNPIP
PTBP2, Official Symbol PTBP2provided by HGNC Official Full Name polypyrimidine tract binding protein 2provided by HGNC Primary source HGNC:HGNC:17662 See related Ensembl:ENSG00000117569 MIM:608449; AllianceGenome:HGNC:17662 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 nPTB; PTBLP; brPTB Summary The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Broad expression in testis (RPKM 15.6), brain (RPKM 9.8) and 24 other tissues See more Orthologs mouse all
PTBP3, Official Symbol PTBP3provided by HGNC Official Full Name polypyrimidine tract binding protein 3provided by HGNC Primary source HGNC:HGNC:10253 See related Ensembl:ENSG00000119314 MIM:607527; AllianceGenome:HGNC:10253 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 ROD1 Summary The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in appendix (RPKM 17.8), lymph node (RPKM 17.7) and 25 other tissues See more Orthologs mouse all
PTCD1, Official Symbol PTCD1provided by HGNC Official Full Name pentatricopeptide repeat domain 1provided by HGNC Primary source HGNC:HGNC:22198 See related Ensembl:ENSG00000106246 MIM:614774; AllianceGenome:HGNC:22198 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 Summary This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in testis (RPKM 5.8), bone marrow (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
PTCD2, Official Symbol PTCD2provided by HGNC Official Full Name pentatricopeptide repeat domain 2provided by HGNC Primary source HGNC:HGNC:25734 See related Ensembl:ENSG00000049883 MIM:615484; AllianceGenome:HGNC:25734 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 RNA binding activity. Predicted to be involved in mitochondrion organization and regulation of mRNA processing. Predicted to act upstream of or within animal organ development; muscle cell development; and regulation of gene expression. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 1.9), brain (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
PTCD2P1, Official Symbol PTCD2P1provided by HGNC Official Full Name pentatricopeptide repeat domain 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31718 See related Ensembl:ENSG00000258456 AllianceGenome:HGNC:31718 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PTCD2P2, Official Symbol PTCD2P2provided by HGNC Official Full Name pentatricopeptide repeat domain 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:45168 See related Ensembl:ENSG00000234256 AllianceGenome:HGNC:45168 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PTCD3, Official Symbol PTCD3provided by HGNC Official Full Name pentatricopeptide repeat domain 3provided by HGNC Primary source HGNC:HGNC:24717 See related Ensembl:ENSG00000132300 MIM:614918; AllianceGenome:HGNC:24717 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 mS39; COXPD51; MRP-S39 Summary Enables rRNA binding activity and ribosomal small subunit binding activity. Involved in mitochondrial translation. Located in several cellular components, including cytosol; mitochondrion; and nucleoplasm. Implicated in combined oxidative phosphorylation deficiency 51. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 14.7), heart (RPKM 11.3) and 25 other tissues See more Orthologs mouse all