psui3905/ncbi_genes_summary huggingface dataset:
UNCX, Official Symbol UNCXprovided by HGNC Official Full Name UNC homeoboxprovided by HGNC Primary source HGNC:HGNC:33194 See related Ensembl:ENSG00000164853 AllianceGenome:HGNC:33194 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 UNCX4.1 Summary This gene encodes a homeobox transcription factor that is involved in somitogenesis and neurogenesis and is required for the maintenance and differentiation of specific elements of the axial skeleton. This gene also plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and deliver hormones that control peripheral functions. The expression of this gene is associated with an increased frequency of acute myeloid leukemia. [provided by RefSeq, Jul 2017] Expression Low expression observed in reference dataset See more Orthologs mouse all
UNG, Official Symbol UNGprovided by HGNC Official Full Name uracil DNA glycosylaseprovided by HGNC Primary source HGNC:HGNC:12572 See related Ensembl:ENSG00000076248 MIM:191525; AllianceGenome:HGNC:12572 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 DGU; UDG; UNG1; UNG2; HIGM4; HIGM5; UNG15 Summary This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010] Annotation information Note: Due to a common symbol (UNG2) for the specific nuclear isoform of the UNG gene (GeneID 7374) and as a previous symbol for the CCNO gene (GeneID 10309), incorrect attributions of uracil DNA glycosylase activity have been made for CCNO in the scientific literature and some databases. CCNO was correctly identified as a cyclin protein family member in PubMed ID: 8419333. [13 Feb 2013] Expression Ubiquitous expression in adrenal (RPKM 23.4), testis (RPKM 16.9) and 25 other tissues See more Orthologs mouse all
UNK, Official Symbol UNKprovided by HGNC Official Full Name unk zinc fingerprovided by HGNC Primary source HGNC:HGNC:29369 See related Ensembl:ENSG00000132478 MIM:616375; AllianceGenome:HGNC:29369 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 ZC3H5; UNKEMPT; ZC3HDC5 Summary Enables mRNA CDS binding activity. Involved in cell morphogenesis involved in neuron differentiation and negative regulation of cytoplasmic translation. Part of polysome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 4.4), spleen (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
UNKL, Official Symbol UNKLprovided by HGNC Official Full Name unk like zinc fingerprovided by HGNC Primary source HGNC:HGNC:14184 See related Ensembl:ENSG00000059145 MIM:617463; AllianceGenome:HGNC:14184 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 ZC3H5L; C16orf28; ZC3HDC5L Summary This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in ovary (RPKM 4.2), endometrium (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
UPB1, Official Symbol UPB1provided by HGNC Official Full Name beta-ureidopropionase 1provided by HGNC Primary source HGNC:HGNC:16297 See related Ensembl:ENSG00000100024 MIM:606673; AllianceGenome:HGNC:16297 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 BUP1 Summary This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 34.8) and kidney (RPKM 13.3) See more Orthologs mouse all
UPF1, Official Symbol UPF1provided by HGNC Official Full Name UPF1 RNA helicase and ATPaseprovided by HGNC Primary source HGNC:HGNC:9962 See related Ensembl:ENSG00000005007 MIM:601430; AllianceGenome:HGNC:9962 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 UTF; HUPF1; NORF1; RENT1; smg-2; pNORF1 Summary This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in testis (RPKM 26.0), kidney (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
UPF2, Official Symbol UPF2provided by HGNC Official Full Name UPF2 regulator of nonsense mediated mRNA decayprovided by HGNC Primary source HGNC:HGNC:17854 See related Ensembl:ENSG00000151461 MIM:605529; AllianceGenome:HGNC:17854 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 HUPF2; RENT2; smg-3 Summary This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 11.8), lymph node (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
UPF3A, Official Symbol UPF3Aprovided by HGNC Official Full Name UPF3A regulator of nonsense mediated mRNA decayprovided by HGNC Primary source HGNC:HGNC:20332 See related Ensembl:ENSG00000169062 MIM:605530; AllianceGenome:HGNC:20332 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 UPF3; HUPF3A; RENT3A Summary This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in testis (RPKM 21.9), thyroid (RPKM 13.7) and 25 other tissues See more Orthologs mouse all
UPF3AP2, Official Symbol UPF3AP2provided by HGNC Official Full Name UPF3A pseudogene 2provided by HGNC Primary source HGNC:HGNC:30567 See related AllianceGenome:HGNC:30567 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UPF3AP3, Official Symbol UPF3AP3provided by HGNC Official Full Name UPF3A pseudogene 3provided by HGNC Primary source HGNC:HGNC:38395 See related AllianceGenome:HGNC:38395 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UPF3B, Official Symbol UPF3Bprovided by HGNC Official Full Name UPF3B regulator of nonsense mediated mRNA decayprovided by HGNC Primary source HGNC:HGNC:20439 See related Ensembl:ENSG00000125351 MIM:300298; AllianceGenome:HGNC:20439 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 MRX62; MRX82; UPF3X; HUPF3B; MRXS14; RENT3B; UPF3BP1; UPF3BP2; UPF3BP3; Upf3p-X Summary This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 5.0), brain (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
UPK1A, Official Symbol UPK1Aprovided by HGNC Official Full Name uroplakin 1Aprovided by HGNC Primary source HGNC:HGNC:12577 See related Ensembl:ENSG00000105668 MIM:611557; AllianceGenome:HGNC:12577 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 UP1A; UPIA; UPKA; TSPAN21 Summary The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] Expression Biased expression in urinary bladder (RPKM 34.0), esophagus (RPKM 7.5) and 2 other tissues See more Orthologs mouse all
UPK1A-AS1, Official Symbol UPK1A-AS1provided by HGNC Official Full Name UPK1A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40603 See related Ensembl:ENSG00000226510 AllianceGenome:HGNC:40603 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 Biased expression in urinary bladder (RPKM 15.7), esophagus (RPKM 3.4) and 2 other tissues See more
UPK1B, Official Symbol UPK1Bprovided by HGNC Official Full Name uroplakin 1Bprovided by HGNC Primary source HGNC:HGNC:12578 See related Ensembl:ENSG00000114638 MIM:602380; AllianceGenome:HGNC:12578 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 UPIB; UPK1; TSPAN20 Summary The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can form a complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in urinary bladder (RPKM 15.8), stomach (RPKM 12.4) and 5 other tissues See more Orthologs mouse all
UPK2, Official Symbol UPK2provided by HGNC Official Full Name uroplakin 2provided by HGNC Primary source HGNC:HGNC:12579 See related Ensembl:ENSG00000110375 MIM:611558; AllianceGenome:HGNC:12579 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 UP2; UPII Summary This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymmetric unit membrane is believed to strengthen the urothelium by preventing cell rupture during bladder distention. The encoded protein is expressed in the peripheral blood of bladder cancer patients with transitional cell carcinomas.[provided by RefSeq, Sep 2009] Expression Biased expression in urinary bladder (RPKM 26.3) and fat (RPKM 1.3) See more Orthologs mouse all
UPK3A, Official Symbol UPK3Aprovided by HGNC Official Full Name uroplakin 3Aprovided by HGNC Primary source HGNC:HGNC:12580 See related Ensembl:ENSG00000100373 MIM:611559; AllianceGenome:HGNC:12580 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 UP3A; UPK3; UPIII; UPIIIA Summary This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] Expression Biased expression in prostate (RPKM 9.1), urinary bladder (RPKM 5.3) and 4 other tissues See more Orthologs mouse all
UPK3B, Official Symbol UPK3Bprovided by HGNC Official Full Name uroplakin 3Bprovided by HGNC Primary source HGNC:HGNC:21444 See related Ensembl:ENSG00000243566 MIM:611887; AllianceGenome:HGNC:21444 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 P35; UP3B; UPIIIB Summary UPK3B is a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b (UPK1B; MIM 602380), one of the major conserved urothelium membrane proteins. The other major conserved integral membrane proteins of urothelial plaques are UPK1A (MIM 611557), UPK2 (MIM 611558), and UPK3A (MIM 611559) (Deng et al., 2002 [PubMed 12446744]).[supplied by OMIM, Mar 2008] Expression Biased expression in lung (RPKM 16.8), urinary bladder (RPKM 3.5) and 2 other tissues See more Orthologs mouse all
UPK3BL1, Official Symbol UPK3BL1provided by HGNC Official Full Name uroplakin 3B like 1provided by HGNC Primary source HGNC:HGNC:37278 See related Ensembl:ENSG00000267368 AllianceGenome:HGNC:37278 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 UPLP; UPK3BL Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 86.5), thyroid (RPKM 43.5) and 25 other tissues See more Orthologs all
UPK3BL2, Official Symbol UPK3BL2provided by HGNC Official Full Name uroplakin 3B like 2provided by HGNC Primary source HGNC:HGNC:53444 See related Ensembl:ENSG00000284981 AllianceGenome:HGNC:53444 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 57.4), thyroid (RPKM 29.7) and 25 other tissues See more Orthologs all
UPK3BP1, Official Symbol UPK3BP1provided by HGNC Official Full Name uroplakin 3B pseudogene 1provided by HGNC Primary source HGNC:HGNC:42353 See related Ensembl:ENSG00000242435 AllianceGenome:HGNC:42353 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UPP1, Official Symbol UPP1provided by HGNC Official Full Name uridine phosphorylase 1provided by HGNC Primary source HGNC:HGNC:12576 See related Ensembl:ENSG00000183696 MIM:191730; AllianceGenome:HGNC:12576 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 UP; UPP; UPASE; UDRPASE Summary This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016] Expression Broad expression in bone marrow (RPKM 27.1), esophagus (RPKM 7.4) and 19 other tissues See more Orthologs mouse all
UPP2, Official Symbol UPP2provided by HGNC Official Full Name uridine phosphorylase 2provided by HGNC Primary source HGNC:HGNC:23061 See related Ensembl:ENSG00000007001 MIM:617340; AllianceGenome:HGNC:23061 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 UP2; UPASE2; UDRPASE2 Summary Enables deoxyuridine phosphorylase activity; identical protein binding activity; and uridine phosphorylase activity. Involved in dCMP catabolic process and uridine catabolic process. Located in type III intermediate filament. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward kidney (RPKM 10.8) See more Orthologs mouse all
UPRT, Official Symbol UPRTprovided by HGNC Official Full Name uracil phosphoribosyltransferase homologprovided by HGNC Primary source HGNC:HGNC:28334 See related Ensembl:ENSG00000094841 MIM:300656; AllianceGenome:HGNC:28334 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 UPP; FUR1 Summary This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The protein is a potential target for rational design of drugs to treat parasitic infections and cancer. [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in adrenal (RPKM 3.5), thyroid (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
UQCC1, Official Symbol UQCC1provided by HGNC Official Full Name ubiquinol-cytochrome c reductase complex assembly factor 1provided by HGNC Primary source HGNC:HGNC:15891 See related Ensembl:ENSG00000101019 MIM:611797; AllianceGenome:HGNC:15891 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 BFZB; CBP3; UQCC; C20orf44 Summary This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Expression Ubiquitous expression in heart (RPKM 16.7), adrenal (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
UQCC2, Official Symbol UQCC2provided by HGNC Official Full Name ubiquinol-cytochrome c reductase complex assembly factor 2provided by HGNC Primary source HGNC:HGNC:21237 See related Ensembl:ENSG00000137288 MIM:614461; AllianceGenome:HGNC:21237 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 M19; Cbp6; MNF1; MC3DN7; C6orf125; C6orf126; bA6B20.2 Summary This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012] Expression Ubiquitous expression in heart (RPKM 18.8), testis (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
UQCC3, Official Symbol UQCC3provided by HGNC Official Full Name ubiquinol-cytochrome c reductase complex assembly factor 3provided by HGNC Primary source HGNC:HGNC:34399 See related Ensembl:ENSG00000204922 MIM:616097; AllianceGenome:HGNC:34399 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 MC3DN9; UNQ655; C11orf83; CCDS41658.1 Summary Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in prostate (RPKM 5.0), colon (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
UQCR10, Official Symbol UQCR10provided by HGNC Official Full Name ubiquinol-cytochrome c reductase, complex III subunit Xprovided by HGNC Primary source HGNC:HGNC:30863 See related Ensembl:ENSG00000184076 MIM:610843; AllianceGenome:HGNC:30863 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 QCR9; UCRC; HSPC051; HSPC119; HSPC151; UCCR7.2 Summary UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in heart (RPKM 65.5), colon (RPKM 45.4) and 25 other tissues See more Orthologs mouse all
UQCR11, Official Symbol UQCR11provided by HGNC Official Full Name ubiquinol-cytochrome c reductase, complex III subunit XIprovided by HGNC Primary source HGNC:HGNC:30862 See related Ensembl:ENSG00000127540 MIM:609711; AllianceGenome:HGNC:30862 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 UQCR; QCR10; 0710008D09Rik Summary This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in colon (RPKM 36.3), fat (RPKM 35.6) and 25 other tissues See more Orthologs mouse all
UQCRB, Official Symbol UQCRBprovided by HGNC Official Full Name ubiquinol-cytochrome c reductase binding proteinprovided by HGNC Primary source HGNC:HGNC:12582 See related Ensembl:ENSG00000156467 MIM:191330; AllianceGenome:HGNC:12582 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 QPC; QCR7; QP-C; UQBC; UQBP; UQPC; UQCR6; MC3DN3 Summary This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in heart (RPKM 51.3), kidney (RPKM 32.2) and 25 other tissues See more Orthologs mouse all
UQCRBP2, Official Symbol UQCRBP2provided by HGNC Official Full Name ubiquinol-cytochrome c reductase binding protein pseudogene 2provided by HGNC Primary source HGNC:HGNC:12584 See related Ensembl:ENSG00000227941 AllianceGenome:HGNC:12584 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UQCRBP3, Official Symbol UQCRBP3provided by HGNC Official Full Name ubiquinol-cytochrome c reductase binding protein pseudogene 3provided by HGNC Primary source HGNC:HGNC:39033 See related Ensembl:ENSG00000249928 AllianceGenome:HGNC:39033 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UQCRC1, Official Symbol UQCRC1provided by HGNC Official Full Name ubiquinol-cytochrome c reductase core protein 1provided by HGNC Primary source HGNC:HGNC:12585 See related Ensembl:ENSG00000010256 MIM:191328; AllianceGenome:HGNC:12585 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 QCR1; PKNPY; UQCR1; D3S3191 Summary Enables ubiquitin protein ligase binding activity. Predicted to be involved in oxidative phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 170.6), kidney (RPKM 96.0) and 25 other tissues See more Orthologs mouse all
UQCRC2, Official Symbol UQCRC2provided by HGNC Official Full Name ubiquinol-cytochrome c reductase core protein 2provided by HGNC Primary source HGNC:HGNC:12586 See related Ensembl:ENSG00000140740 MIM:191329; AllianceGenome:HGNC:12586 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 QCR2; UQCR2; MC3DN5 Summary The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015] Expression Ubiquitous expression in heart (RPKM 179.2), duodenum (RPKM 111.5) and 25 other tissues See more Orthologs mouse all
UQCRC2P1, Official Symbol UQCRC2P1provided by HGNC Official Full Name ubiquinol-cytochrome c reductase core protein 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44309 See related Ensembl:ENSG00000236736 AllianceGenome:HGNC:44309 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UQCRFS1, Official Symbol UQCRFS1provided by HGNC Official Full Name ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1provided by HGNC Primary source HGNC:HGNC:12587 See related Ensembl:ENSG00000169021 MIM:191327; AllianceGenome:HGNC:12587 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 RIP1; RIS1; RISP; UQCR5; MC3DN10 Summary Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of mitochondrial respiratory chain complex III and mitochondrial respiratory chain complex IV. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 101.2), kidney (RPKM 70.7) and 25 other tissues See more Orthologs mouse all
UQCRFS1-DT, Official Symbol UQCRFS1-DTprovided by HGNC Official Full Name UQCRFS1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55295 See related Ensembl:ENSG00000267498 AllianceGenome:HGNC:55295 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 CTB-32O4.2; CTB-32O4.3; CTB-32O4.4 Expression Low expression observed in reference dataset See more
UQCRFS1P1, Official Symbol UQCRFS1P1provided by HGNC Official Full Name ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:12588 See related AllianceGenome:HGNC:12588 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 UQCRFSL1 Summary Predicted to enable oxidoreductase activity. Predicted to be involved in electron transport chain and proton transmembrane transport. Predicted to be part of mitochondrial respiratory chain complex III. [provided by Alliance of Genome Resources, Apr 2022]
UQCRH, Official Symbol UQCRHprovided by HGNC Official Full Name ubiquinol-cytochrome c reductase hinge proteinprovided by HGNC Primary source HGNC:HGNC:12590 See related Ensembl:ENSG00000173660 MIM:613844; AllianceGenome:HGNC:12590 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 QCR6; UQCR8; MC3DN11 Summary Predicted to enable ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 164.7), colon (RPKM 117.2) and 25 other tissues See more Orthologs mouse all
UQCRHL, Official Symbol UQCRHLprovided by HGNC Official Full Name ubiquinol-cytochrome c reductase hinge protein likeprovided by HGNC Primary source HGNC:HGNC:51714 See related Ensembl:ENSG00000233954 AllianceGenome:HGNC:51714 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 hCG25371 Summary This gene has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the UQCRH gene, so this gene is being called protein-coding for now. [provided by RefSeq, Jul 2008] Orthologs all
UQCRHP4, Official Symbol UQCRHP4provided by HGNC Official Full Name ubiquinol-cytochrome c reductase hinge protein pseudogene 4provided by HGNC Primary source HGNC:HGNC:38047 See related Ensembl:ENSG00000242728 AllianceGenome:HGNC:38047 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
UQCRQ, Official Symbol UQCRQprovided by HGNC Official Full Name ubiquinol-cytochrome c reductase complex III subunit VIIprovided by HGNC Primary source HGNC:HGNC:29594 See related Ensembl:ENSG00000164405 MIM:612080; AllianceGenome:HGNC:29594 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 QPC; QCR8; QP-C; UQCR7; MC3DN4 Summary This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 47.2), colon (RPKM 46.6) and 25 other tissues See more Orthologs mouse all
URAD, Official Symbol URADprovided by HGNC Official Full Name ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylaseprovided by HGNC Primary source HGNC:HGNC:17785 See related Ensembl:ENSG00000183463 MIM:615804; AllianceGenome:HGNC:17785 Gene type protein coding RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRHOXNB Summary Predicted to enable carboxy-lyase activity. Predicted to be involved in purine-containing compound catabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in colon (RPKM 3.8), small intestine (RPKM 0.9) and 2 other tissues See more Orthologs mouse all
URB1, Official Symbol URB1provided by HGNC Official Full Name URB1 ribosome biogenesis homologprovided by HGNC Primary source HGNC:HGNC:17344 See related Ensembl:ENSG00000142207 MIM:608865; AllianceGenome:HGNC:17344 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 NPA1; C21orf108 Summary Enables RNA binding activity. Predicted to be involved in maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in fibrillar center. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 5.5), endometrium (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
URB1-AS1, Official Symbol URB1-AS1provided by HGNC Official Full Name URB1 antisense RNA 1 (head to head)provided by HGNC Primary source HGNC:HGNC:23128 See related Ensembl:ENSG00000256073 AllianceGenome:HGNC:23128 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 PRED84; C21orf119
URB2, Official Symbol URB2provided by HGNC Official Full Name URB2 ribosome biogenesis homologprovided by HGNC Primary source HGNC:HGNC:28967 See related Ensembl:ENSG00000135763 MIM:619372; AllianceGenome:HGNC:28967 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 NPA2; NET10; KIAA0133 Summary Predicted to be involved in ribosome biogenesis. Located in aggresome; midbody; and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 4.6), lymph node (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
URGCP, Official Symbol URGCPprovided by HGNC Official Full Name upregulator of cell proliferationprovided by HGNC Primary source HGNC:HGNC:30890 See related Ensembl:ENSG00000106608 MIM:610337; AllianceGenome:HGNC:30890 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 URG4 Summary URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carcinoma by promoting hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in adrenal (RPKM 9.7), kidney (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
URGCP-MRPS24, Official Symbol URGCP-MRPS24provided by HGNC Official Full Name URGCP-MRPS24 readthroughprovided by HGNC Primary source HGNC:HGNC:49188 See related Ensembl:ENSG00000270617 AllianceGenome:HGNC:49188 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 This locus represents naturally occurring read-through transcription between the neighboring URGCP (upregulator of cell proliferation) and MRPS24 (mitochondrial ribosomal protein S24) genes on chromosome 7. The read-through transcript is predicted to encode a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in kidney (RPKM 36.3), adrenal (RPKM 28.6) and 25 other tissues See more
URI1, Official Symbol URI1provided by HGNC Official Full Name URI1 prefoldin like chaperoneprovided by HGNC Primary source HGNC:HGNC:13236 See related Ensembl:ENSG00000105176 MIM:603494; AllianceGenome:HGNC:13236 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 RMP; URI; NNX3; C19orf2; PPP1R19 Summary This gene encodes member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though interactions with the RNA polymerase II subunit RPB5. This gene may play a role in multiple malignancies including ovarian cancer and hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in thyroid (RPKM 23.9), testis (RPKM 18.7) and 25 other tissues See more Orthologs mouse all
URM1, Official Symbol URM1provided by HGNC Official Full Name ubiquitin related modifier 1provided by HGNC Primary source HGNC:HGNC:28378 See related Ensembl:ENSG00000167118 MIM:612693; AllianceGenome:HGNC:28378 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 C9orf74 Summary Enables sulfur carrier activity. Involved in tRNA thio-modification and tRNA wobble uridine modification. Predicted to be located in cytosol. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 8.1), lymph node (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
UROC1, Official Symbol UROC1provided by HGNC Official Full Name urocanate hydratase 1provided by HGNC Primary source HGNC:HGNC:26444 See related Ensembl:ENSG00000159650 MIM:613012; AllianceGenome:HGNC:26444 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 UROCD; HMFN0320 Summary This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021] Expression Restricted expression toward liver (RPKM 20.9) See more Orthologs mouse all
UROD, Official Symbol URODprovided by HGNC Official Full Name uroporphyrinogen decarboxylaseprovided by HGNC Primary source HGNC:HGNC:12591 See related Ensembl:ENSG00000126088 MIM:613521; AllianceGenome:HGNC:12591 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 PCT; UPD Summary This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010] Expression Ubiquitous expression in bone marrow (RPKM 73.9), adrenal (RPKM 43.0) and 25 other tissues See more Orthologs mouse all
UROS, Official Symbol UROSprovided by HGNC Official Full Name uroporphyrinogen III synthaseprovided by HGNC Primary source HGNC:HGNC:12592 See related Ensembl:ENSG00000188690 MIM:606938; AllianceGenome:HGNC:12592 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 UROIIIS Summary The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 4.5), brain (RPKM 4.4) and 25 other tissues See more Orthologs mouse all