psui3905/ncbi_genes_summary huggingface dataset:
POLN, Official Symbol POLNprovided by HGNC Official Full Name DNA polymerase nuprovided by HGNC Primary source HGNC:HGNC:18870 See related Ensembl:ENSG00000130997 MIM:610887; AllianceGenome:HGNC:18870 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 POL4P Summary This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014] Expression Broad expression in testis (RPKM 2.1), fat (RPKM 1.9) and 24 other tissues See more Orthologs mouse all
POLQ, Official Symbol POLQprovided by HGNC Official Full Name DNA polymerase thetaprovided by HGNC Primary source HGNC:HGNC:9186 See related Ensembl:ENSG00000051341 MIM:604419; AllianceGenome:HGNC:9186 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 PRO0327 Summary Enables catalytic activity, acting on DNA; chromatin binding activity; and identical protein binding activity. Involved in DNA repair; negative regulation of double-strand break repair via homologous recombination; and protein homooligomerization. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 2.5), lymph node (RPKM 1.7) and 13 other tissues See more Orthologs mouse all
POLR1A, Official Symbol POLR1Aprovided by HGNC Official Full Name RNA polymerase I subunit Aprovided by HGNC Primary source HGNC:HGNC:17264 See related Ensembl:ENSG00000068654 MIM:616404; AllianceGenome:HGNC:17264 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 A190; RPA1; RPO14; AFDCIN; RPA190; RPA194; RPO1-4 Summary The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016] Expression Ubiquitous expression in testis (RPKM 5.9), endometrium (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
POLR1B, Official Symbol POLR1Bprovided by HGNC Official Full Name RNA polymerase I subunit Bprovided by HGNC Primary source HGNC:HGNC:20454 See related Ensembl:ENSG00000125630 MIM:602000; AllianceGenome:HGNC:20454 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 A135; RPA2; TCS4; RPA135; Rpo1-2 Summary Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 8.1), thyroid (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
POLR1C, Official Symbol POLR1Cprovided by HGNC Official Full Name RNA polymerase I and III subunit Cprovided by HGNC Primary source HGNC:HGNC:20194 See related Ensembl:ENSG00000171453 MIM:610060; AllianceGenome:HGNC:20194 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 AC40; RPA5; TCS3; HLD11; RPA39; RPA40; RPAC1; RPC40 Summary The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in testis (RPKM 7.7), skin (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
POLR1D, Official Symbol POLR1Dprovided by HGNC Official Full Name RNA polymerase I and III subunit Dprovided by HGNC Primary source HGNC:HGNC:20422 See related Ensembl:ENSG00000186184 MIM:613715; AllianceGenome:HGNC:20422 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 AC19; RPA9; TCS2; RPA16; RPAC2; RPC16; POLR1C; RPO1-3 Summary The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] Expression Ubiquitous expression in testis (RPKM 19.3), adrenal (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
POLR1E, Official Symbol POLR1Eprovided by HGNC Official Full Name RNA polymerase I subunit Eprovided by HGNC Primary source HGNC:HGNC:17631 See related Ensembl:ENSG00000137054 AllianceGenome:HGNC:17631 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 A49; PAF53; PRAF1; RPA49 Summary Predicted to enable DNA binding activity; DNA-directed 5'-3' RNA polymerase activity; and RNA polymerase I general transcription initiation factor binding activity. Involved in nucleolar large rRNA transcription by RNA polymerase I. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 15.6), endometrium (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
POLR1F, Official Symbol POLR1Fprovided by HGNC Official Full Name RNA polymerase I subunit Fprovided by HGNC Primary source HGNC:HGNC:18027 See related Ensembl:ENSG00000105849 MIM:608312; AllianceGenome:HGNC:18027 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 A43; RPA43; TWISTNB Summary Predicted to enable DNA-directed 5'-3' RNA polymerase activity. Predicted to be involved in DNA-templated transcription, initiation. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in nucleoplasm. Predicted to be part of RNA polymerase I complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 8.5), bone marrow (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
POLR1G, Official Symbol POLR1Gprovided by HGNC Official Full Name RNA polymerase I subunit Gprovided by HGNC Primary source HGNC:HGNC:24219 See related Ensembl:ENSG00000117877 MIM:107325; AllianceGenome:HGNC:24219 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 ASE1; CAST; ASE-1; PAF49; RPA34; CD3EAP Summary Enables RNA binding activity. Predicted to be involved in transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to act upstream of or within rRNA transcription. Located in cytosol; mitochondrion; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 8.1), ovary (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
POLR1H, Official Symbol POLR1Hprovided by HGNC Official Full Name RNA polymerase I subunit Hprovided by HGNC Primary source HGNC:HGNC:13182 See related Ensembl:ENSG00000066379 MIM:607525; AllianceGenome:HGNC:13182 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 TEX6; ZR14; A12.2; HTEX6; Rpa12; ZNRD1; hZR14; HTEX-6; TCTEX6; tctex-6 Summary This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in lymph node (RPKM 12.3), appendix (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
POLR2A, Official Symbol POLR2Aprovided by HGNC Official Full Name RNA polymerase II subunit Aprovided by HGNC Primary source HGNC:HGNC:9187 See related Ensembl:ENSG00000181222 MIM:180660; AllianceGenome:HGNC:9187 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 RPB1; RPO2; POLR2; POLRA; RPBh1; RPOL2; NEDHIB; RpIILS; hsRPB1; hRPB220 Summary This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008] Annotation information Annotation category: suggests misassembly Expression Ubiquitous expression in testis (RPKM 59.5), skin (RPKM 31.0) and 25 other tissues See more Orthologs mouse all
POLR2C, Official Symbol POLR2Cprovided by HGNC Official Full Name RNA polymerase II subunit Cprovided by HGNC Primary source HGNC:HGNC:9189 See related Ensembl:ENSG00000102978 MIM:180663; AllianceGenome:HGNC:9189 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 RPB3; RPB31; hRPB33; hsRPB3 Summary This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 43.5), adrenal (RPKM 39.1) and 25 other tissues See more Orthologs mouse all
POLR2D, Official Symbol POLR2Dprovided by HGNC Official Full Name RNA polymerase II subunit Dprovided by HGNC Primary source HGNC:HGNC:9191 See related Ensembl:ENSG00000144231 MIM:606017; AllianceGenome:HGNC:9191 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 RBP4; RPB4; RPB16; HSRBP4; HSRPB4 Summary This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 27.2), lymph node (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
POLR2DP2, Official Symbol POLR2DP2provided by HGNC Official Full Name POLR2D pseudogene 2provided by HGNC Primary source HGNC:HGNC:54765 See related Ensembl:ENSG00000244565 AllianceGenome:HGNC:54765 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
POLR2E, Official Symbol POLR2Eprovided by HGNC Official Full Name RNA polymerase II, I and III subunit Eprovided by HGNC Primary source HGNC:HGNC:9192 See related Ensembl:ENSG00000099817 MIM:180664; AllianceGenome:HGNC:9192 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 RPB5; XAP4; RPABC1; hRPB25; hsRPB5 Summary This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in fat (RPKM 46.7), kidney (RPKM 21.6) and 25 other tissues See more Orthologs mouse all
POLR2F, Official Symbol POLR2Fprovided by HGNC Official Full Name RNA polymerase II, I and III subunit Fprovided by HGNC Primary source HGNC:HGNC:9193 See related Ensembl:ENSG00000100142 MIM:604414; AllianceGenome:HGNC:9193 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 RPB6; POLRF; RPC15; RPABC2; RPB14.4; HRBP14.4; RPABC14.4 Summary This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in brain (RPKM 8.9), kidney (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
POLR2G, Official Symbol POLR2Gprovided by HGNC Official Full Name RNA polymerase II subunit Gprovided by HGNC Primary source HGNC:HGNC:9194 See related Ensembl:ENSG00000168002 MIM:602013; AllianceGenome:HGNC:9194 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 RPB7; RPB19; hRPB19; hsRPB7 Summary This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq, Jan 2009] Expression Ubiquitous expression in lymph node (RPKM 35.1), brain (RPKM 26.4) and 25 other tissues See more Orthologs mouse all
POLR2H, Official Symbol POLR2Hprovided by HGNC Official Full Name RNA polymerase II, I and III subunit Hprovided by HGNC Primary source HGNC:HGNC:9195 See related Ensembl:ENSG00000163882 MIM:606023; AllianceGenome:HGNC:9195 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 RPB8; RPB17; RPABC3 Summary The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in duodenum (RPKM 14.6), small intestine (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
POLR2I, Official Symbol POLR2Iprovided by HGNC Official Full Name RNA polymerase II subunit Iprovided by HGNC Primary source HGNC:HGNC:9196 See related Ensembl:ENSG00000105258 MIM:180662; AllianceGenome:HGNC:9196 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 RPB9; hRPB14.5 Summary This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 23.3), brain (RPKM 15.2) and 25 other tissues See more Orthologs mouse all
POLR2J, Official Symbol POLR2Jprovided by HGNC Official Full Name RNA polymerase II subunit Jprovided by HGNC Primary source HGNC:HGNC:9197 See related Ensembl:ENSG00000005075 MIM:604150; AllianceGenome:HGNC:9197 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 RPB11; RPB11A; RPB11m; hRPB14; POLR2J1 Summary This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 20.7), fat (RPKM 18.2) and 25 other tissues See more Orthologs mouse all
POLR2J2, Official Symbol POLR2J2provided by HGNC Official Full Name RNA polymerase II subunit J2provided by HGNC Primary source HGNC:HGNC:23208 See related Ensembl:ENSG00000228049 MIM:609881; AllianceGenome:HGNC:23208 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 HRPB11B; RPB11b1 Summary This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 55.4), thyroid (RPKM 33.8) and 25 other tissues See more
POLR2K, Official Symbol POLR2Kprovided by HGNC Official Full Name RNA polymerase II, I and III subunit Kprovided by HGNC Primary source HGNC:HGNC:9198 See related Ensembl:ENSG00000147669 MIM:606033; AllianceGenome:HGNC:9198 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 RPB12; RPABC4; RPB7.0; hRPB7.0; hsRPB10a; RPB10alpha; ABC10-alpha Summary This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 36.2), thyroid (RPKM 30.3) and 25 other tissues See more Orthologs mouse all
POLR2L, Official Symbol POLR2Lprovided by HGNC Official Full Name RNA polymerase II, I and III subunit Lprovided by HGNC Primary source HGNC:HGNC:9199 See related Ensembl:ENSG00000177700 MIM:601189; AllianceGenome:HGNC:9199 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 RBP10; RPB10; RPABC5; RPB7.6; hRPB7.6; RPB10beta Summary This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 85.5), kidney (RPKM 42.9) and 25 other tissues See more Orthologs mouse all
POLR2M, Official Symbol POLR2Mprovided by HGNC Official Full Name RNA polymerase II subunit Mprovided by HGNC Primary source HGNC:HGNC:14862 See related Ensembl:ENSG00000255529 MIM:606485; AllianceGenome:HGNC:14862 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 GCOM1; Gdown; Gdown1; GRINL1A Summary This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013] Expression Ubiquitous expression in endometrium (RPKM 23.6), ovary (RPKM 17.1) and 25 other tissues See more Orthologs mouse all
POLR3A, Official Symbol POLR3Aprovided by HGNC Official Full Name RNA polymerase III subunit Aprovided by HGNC Primary source HGNC:HGNC:30074 See related Ensembl:ENSG00000148606 MIM:614258; AllianceGenome:HGNC:30074 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 ADDH; C160; HLD7; RPC1; WDRTS; RPC155; hRPC155 Summary The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in brain (RPKM 7.2), testis (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
POLR3B, Official Symbol POLR3Bprovided by HGNC Official Full Name RNA polymerase III subunit Bprovided by HGNC Primary source HGNC:HGNC:30348 See related Ensembl:ENSG00000013503 MIM:614366; AllianceGenome:HGNC:30348 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 C128; HLD8; RPC2; CMT1I; INMAP Summary This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in esophagus (RPKM 2.4), thyroid (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
POLR3C, Official Symbol POLR3Cprovided by HGNC Official Full Name RNA polymerase III subunit Cprovided by HGNC Primary source HGNC:HGNC:30076 See related Ensembl:ENSG00000186141 MIM:617454; AllianceGenome:HGNC:30076 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 C82; RPC3; RPC62 Summary Enables single-stranded DNA binding activity. Involved in positive regulation of innate immune response and positive regulation of interferon-beta production. Located in nucleoplasm. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.3), lymph node (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
POLR3D, Official Symbol POLR3Dprovided by HGNC Official Full Name RNA polymerase III subunit Dprovided by HGNC Primary source HGNC:HGNC:1080 See related Ensembl:ENSG00000168495 MIM:187280; AllianceGenome:HGNC:1080 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 C53; RPC4; BN51T; RPC53; TSBN51 Summary This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 12.6), placenta (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
POLR3DP1, Official Symbol POLR3DP1provided by HGNC Official Full Name RNA polymerase III subunit D pseudogene 1provided by HGNC Primary source HGNC:HGNC:45107 See related Ensembl:ENSG00000214626 AllianceGenome:HGNC:45107 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
POLR3E, Official Symbol POLR3Eprovided by HGNC Official Full Name RNA polymerase III subunit Eprovided by HGNC Primary source HGNC:HGNC:30347 See related Ensembl:ENSG00000058600 MIM:617815; AllianceGenome:HGNC:30347 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 C37; SIN; RPC5 Summary Predicted to enable DNA-directed 5'-3' RNA polymerase activity. Predicted to be involved in defense response to virus; innate immune response; and transcription, DNA-templated. Located in nucleoplasm. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 6.2), thyroid (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
POLR3F, Official Symbol POLR3Fprovided by HGNC Official Full Name RNA polymerase III subunit Fprovided by HGNC Primary source HGNC:HGNC:15763 See related Ensembl:ENSG00000132664 MIM:617455; AllianceGenome:HGNC:15763 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 C34; RPC6; RPC39; IMD101 Summary The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in brain (RPKM 6.9), thyroid (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
POLR3G, Official Symbol POLR3Gprovided by HGNC Official Full Name RNA polymerase III subunit Gprovided by HGNC Primary source HGNC:HGNC:30075 See related Ensembl:ENSG00000113356 MIM:617456; AllianceGenome:HGNC:30075 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 C31; RPC7; RPC32 Summary Enables chromatin binding activity. Involved in positive regulation of innate immune response; positive regulation of interferon-beta production; and transcription by RNA polymerase III. Acts upstream of or within cell population proliferation. Located in cytosol and nuclear body. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 1.8), esophagus (RPKM 1.0) and 24 other tissues See more Orthologs mouse all
POLR3GL, Official Symbol POLR3GLprovided by HGNC Official Full Name RNA polymerase III subunit GLprovided by HGNC Primary source HGNC:HGNC:28466 See related Ensembl:ENSG00000121851 MIM:617457; AllianceGenome:HGNC:28466 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 SOFM; RPC32HOM; flj32422 Summary Predicted to enable chromatin binding activity. Involved in transcription by RNA polymerase III. Located in nucleus. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 24.4), spleen (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
POLR3H, Official Symbol POLR3Hprovided by HGNC Official Full Name RNA polymerase III subunit Hprovided by HGNC Primary source HGNC:HGNC:30349 See related Ensembl:ENSG00000100413 MIM:619801; AllianceGenome:HGNC:30349 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 C25; RPC8; RPC22.9 Summary Enables DNA-directed 5'-3' RNA polymerase activity. Involved in transcription by RNA polymerase III. Located in centrosome and nucleoplasm. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 36.2), kidney (RPKM 22.6) and 25 other tissues See more Orthologs mouse all
POLR3K, Official Symbol POLR3Kprovided by HGNC Official Full Name RNA polymerase III subunit Kprovided by HGNC Primary source HGNC:HGNC:14121 See related Ensembl:ENSG00000161980 MIM:606007; AllianceGenome:HGNC:14121 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 C11; HLD21; My010; RPC10; RPC11; RPC12.5; C11-RNP3 Summary This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010] Expression Ubiquitous expression in lymph node (RPKM 13.5), appendix (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
POLRMT, Official Symbol POLRMTprovided by HGNC Official Full Name RNA polymerase mitochondrialprovided by HGNC Primary source HGNC:HGNC:9200 See related Ensembl:ENSG00000099821 MIM:601778; AllianceGenome:HGNC:9200 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 APOLMT; MTRNAP; MTRPOL; COXPD55; h-mtRPOL Summary This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 15.0), kidney (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
POLRMTP1, Official Symbol POLRMTP1provided by HGNC Official Full Name RNA polymerase mitochondrial pseudogene 1provided by HGNC Primary source HGNC:HGNC:28865 See related Ensembl:ENSG00000266066 AllianceGenome:HGNC:28865 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 POLRMTL
POM121, Official Symbol POM121provided by HGNC Official Full Name POM121 transmembrane nucleoporinprovided by HGNC Primary source HGNC:HGNC:19702 See related Ensembl:ENSG00000196313 MIM:615753; AllianceGenome:HGNC:19702 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 P145; POM121A Summary This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013] Annotation information Note: POM121 (Gene ID: 9883) and POMZP3 (Gene ID: 22832) share the POM121 symbol/alias in common. POM121 is sometimes used as an alternative name for POM121 and ZP3 fusion, which can be confused with the official symbol for POM121 transmembrane nucleoporin (POM121). [05 Jul 2018] Expression Ubiquitous expression in bone marrow (RPKM 16.6), spleen (RPKM 15.4) and 25 other tissues See more Orthologs all
POM121C, Official Symbol POM121Cprovided by HGNC Official Full Name POM121 transmembrane nucleoporin Cprovided by HGNC Primary source HGNC:HGNC:34005 See related Ensembl:ENSG00000272391 MIM:615754; AllianceGenome:HGNC:34005 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 POM121-2 Summary Predicted to enable nuclear localization sequence binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in RNA export from nucleus and protein import into nucleus. Predicted to be located in nuclear envelope. Predicted to be part of nuclear pore. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 18.6), testis (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
POM121L10P, Official Symbol POM121L10Pprovided by HGNC Official Full Name POM121 transmembrane nucleoporin like 10, pseudogeneprovided by HGNC Primary source HGNC:HGNC:35448 See related AllianceGenome:HGNC:35448 Gene type pseudo 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 36.7) See more
POM121L12, Official Symbol POM121L12provided by HGNC Official Full Name POM121 transmembrane nucleoporin like 12provided by HGNC Primary source HGNC:HGNC:25369 See related Ensembl:ENSG00000221900 AllianceGenome:HGNC:25369 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 nuclear localization sequence binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in RNA export from nucleus and protein import into nucleus. Predicted to be part of nuclear pore. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
POM121L13P, Official Symbol POM121L13Pprovided by HGNC Official Full Name POM121 transmembrane nucleoporin like 13, pseudogeneprovided by HGNC Primary source HGNC:HGNC:42635 See related Ensembl:ENSG00000236339 AllianceGenome:HGNC:42635 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
POM121L2, Official Symbol POM121L2provided by HGNC Official Full Name POM121 transmembrane nucleoporin like 2provided by HGNC Primary source HGNC:HGNC:13973 See related Ensembl:ENSG00000158553 AllianceGenome:HGNC:13973 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 POM121L; POM121-L Summary Predicted to enable nuclear localization sequence binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in RNA export from nucleus and protein import into nucleus. Predicted to be part of nuclear pore. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
POM121L3P, Official Symbol POM121L3Pprovided by HGNC Official Full Name POM121 transmembrane nucleoporin like 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:16440 See related Ensembl:ENSG00000167390 AllianceGenome:HGNC:16440 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 POM121L3; dJ831C21.3
POM121L4P, Official Symbol POM121L4Pprovided by HGNC Official Full Name POM121 transmembrane nucleoporin like 4, pseudogeneprovided by HGNC Primary source HGNC:HGNC:19326 See related AllianceGenome:HGNC:19326 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as POM121L1; POM121L1P
POMC, Official Symbol POMCprovided by HGNC Official Full Name proopiomelanocortinprovided by HGNC Primary source HGNC:HGNC:9201 See related Ensembl:ENSG00000115138 MIM:176830; AllianceGenome:HGNC:9201 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 LPH; MSH; NPP; POC; ACTH; CLIP; OBAIRH Summary This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016] Expression Broad expression in testis (RPKM 2.4), pancreas (RPKM 2.0) and 19 other tissues See more Orthologs mouse all
POMGNT1, Official Symbol POMGNT1provided by HGNC Official Full Name protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)provided by HGNC Primary source HGNC:HGNC:19139 See related Ensembl:ENSG00000085998 MIM:606822; AllianceGenome:HGNC:19139 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 MEB; RP76; GNTI.2; LGMD2O; GnT I.2; LGMDR15; MGAT1.2; gnT-I.2 Summary This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in heart (RPKM 23.4), thyroid (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
POMGNT2, Official Symbol POMGNT2provided by HGNC Official Full Name protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)provided by HGNC Primary source HGNC:HGNC:25902 See related Ensembl:ENSG00000144647 MIM:614828; AllianceGenome:HGNC:25902 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 AGO61; GTDC2; MDDGA8; MDDGC8; C3orf39 Summary This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012] Expression Ubiquitous expression in endometrium (RPKM 11.1), brain (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
POMK, Official Symbol POMKprovided by HGNC Official Full Name protein O-mannose kinaseprovided by HGNC Primary source HGNC:HGNC:26267 See related Ensembl:ENSG00000185900 MIM:615247; AllianceGenome:HGNC:26267 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 SGK196; MDDGA12; MDDGC12 Summary This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Ubiquitous expression in brain (RPKM 2.1), testis (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
POMP, Official Symbol POMPprovided by HGNC Official Full Name proteasome maturation proteinprovided by HGNC Primary source HGNC:HGNC:20330 See related Ensembl:ENSG00000132963 MIM:613386; AllianceGenome:HGNC:20330 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 UMP1; PRAAS2; HSPC014; C13orf12; PNAS-110 Summary The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010] Expression Ubiquitous expression in placenta (RPKM 45.6), colon (RPKM 36.4) and 25 other tissues See more Orthologs mouse all
POMPP1, Official Symbol POMPP1provided by HGNC Official Full Name POMP pseudogene 1provided by HGNC Primary source HGNC:HGNC:55007 See related Ensembl:ENSG00000236870 AllianceGenome:HGNC:55007 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo