psui3905/ncbi_genes_summary huggingface dataset:
TOPORS, Official Symbol TOPORSprovided by HGNC Official Full Name TOP1 binding arginine/serine rich protein, E3 ubiquitin ligaseprovided by HGNC Primary source HGNC:HGNC:21653 See related Ensembl:ENSG00000197579 MIM:609507; AllianceGenome:HGNC:21653 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 LUN; RP31; P53BP3; TP53BPL Summary This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010] Expression Ubiquitous expression in testis (RPKM 10.5), bone marrow (RPKM 10.0) and 25 other tissues See more Orthologs mouse all
TOR1A, Official Symbol TOR1Aprovided by HGNC Official Full Name torsin family 1 member Aprovided by HGNC Primary source HGNC:HGNC:3098 See related Ensembl:ENSG00000136827 MIM:605204; AllianceGenome:HGNC:3098 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 DQ2; AMC5; DYT1 Summary The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 14.8), urinary bladder (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
TOR1AIP1, Official Symbol TOR1AIP1provided by HGNC Official Full Name torsin 1A interacting protein 1provided by HGNC Primary source HGNC:HGNC:29456 See related Ensembl:ENSG00000143337 MIM:614512; AllianceGenome:HGNC:29456 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 LAP1; LAP1B; LAP1C; LGMD2Y Summary This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in thyroid (RPKM 27.1), ovary (RPKM 27.0) and 25 other tissues See more Orthologs mouse all
TOR1AIP2, Official Symbol TOR1AIP2provided by HGNC Official Full Name torsin 1A interacting protein 2provided by HGNC Primary source HGNC:HGNC:24055 See related Ensembl:ENSG00000169905 MIM:614513; AllianceGenome:HGNC:24055 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 NET9; LULL1; IFRG15 Summary One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017] Expression Ubiquitous expression in liver (RPKM 4.5), small intestine (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
TOR1B, Official Symbol TOR1Bprovided by HGNC Official Full Name torsin family 1 member Bprovided by HGNC Primary source HGNC:HGNC:11995 See related Ensembl:ENSG00000136816 MIM:608050; AllianceGenome:HGNC:11995 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 DQ1 Summary The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in colon (RPKM 11.2), gall bladder (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
TOR2A, Official Symbol TOR2Aprovided by HGNC Official Full Name torsin family 2 member Aprovided by HGNC Primary source HGNC:HGNC:11996 See related Ensembl:ENSG00000160404 MIM:608052; AllianceGenome:HGNC:11996 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 TORP1 Summary This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014] Expression Ubiquitous expression in bone marrow (RPKM 7.4), testis (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
TOR3A, Official Symbol TOR3Aprovided by HGNC Official Full Name torsin family 3 member Aprovided by HGNC Primary source HGNC:HGNC:11997 See related Ensembl:ENSG00000186283 MIM:607555; AllianceGenome:HGNC:11997 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 ADIR; ADIR2 Summary Predicted to enable ATP binding activity. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 22.6), appendix (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
TOR4A, Official Symbol TOR4Aprovided by HGNC Official Full Name torsin family 4 member Aprovided by HGNC Primary source HGNC:HGNC:25981 See related Ensembl:ENSG00000198113 AllianceGenome:HGNC:25981 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 C9orf167 Summary Predicted to enable ATP binding activity. Predicted to be located in extracellular region and platelet alpha granule lumen. Predicted to be active in endoplasmic reticulum lumen and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 8.8), stomach (RPKM 6.8) and 22 other tissues See more Orthologs mouse all
TOX, Official Symbol TOXprovided by HGNC Official Full Name thymocyte selection associated high mobility group boxprovided by HGNC Primary source HGNC:HGNC:18988 See related Ensembl:ENSG00000198846 MIM:606863; AllianceGenome:HGNC:18988 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 TOX1 Summary The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009] Expression Broad expression in lymph node (RPKM 9.9), brain (RPKM 6.2) and 19 other tissues See more Orthologs mouse all
TOX2, Official Symbol TOX2provided by HGNC Official Full Name TOX high mobility group box family member 2provided by HGNC Primary source HGNC:HGNC:16095 See related Ensembl:ENSG00000124191 MIM:611163; AllianceGenome:HGNC:16095 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 GCX1; GCX-1; C20orf100; dJ495O3.1; dJ1108D11.2 Summary Enables transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 5.3), lymph node (RPKM 4.6) and 21 other tissues See more Orthologs mouse all
TOX3, Official Symbol TOX3provided by HGNC Official Full Name TOX high mobility group box family member 3provided by HGNC Primary source HGNC:HGNC:11972 See related Ensembl:ENSG00000103460 MIM:611416; AllianceGenome:HGNC:11972 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 CAGF9; TNRC9 Summary The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009] Expression Biased expression in stomach (RPKM 5.0), colon (RPKM 3.6) and 13 other tissues See more Orthologs mouse all
TOX4, Official Symbol TOX4provided by HGNC Official Full Name TOX high mobility group box family member 4provided by HGNC Primary source HGNC:HGNC:20161 See related Ensembl:ENSG00000092203 MIM:614032; AllianceGenome:HGNC:20161 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 LCP1; MIG7; C14orf92; KIAA0737 Summary Predicted to enable chromatin DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in chromatin. Part of PTW/PP1 phosphatase complex. Colocalizes with chromosome, telomeric region. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
TOX4P1, Official Symbol TOX4P1provided by HGNC Official Full Name TOX high mobility group box family member 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44009 See related Ensembl:ENSG00000248697 AllianceGenome:HGNC:44009 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TP53, Official Symbol TP53provided by HGNC Official Full Name tumor protein p53provided by HGNC Primary source HGNC:HGNC:11998 See related Ensembl:ENSG00000141510 MIM:191170; AllianceGenome:HGNC:11998 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 P53; BCC7; LFS1; BMFS5; TRP53 Summary This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in spleen (RPKM 13.2), lymph node (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
TP53AIP1, Official Symbol TP53AIP1provided by HGNC Official Full Name tumor protein p53 regulated apoptosis inducing protein 1provided by HGNC Primary source HGNC:HGNC:29984 See related Ensembl:ENSG00000120471 MIM:605426; AllianceGenome:HGNC:29984 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 P53AIP1 Summary This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] Expression Biased expression in skin (RPKM 6.8) and esophagus (RPKM 1.6) See more Orthologs all
TP53BP1, Official Symbol TP53BP1provided by HGNC Official Full Name tumor protein p53 binding protein 1provided by HGNC Primary source HGNC:HGNC:11999 See related Ensembl:ENSG00000067369 MIM:605230; AllianceGenome:HGNC:11999 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 p202; 53BP1; TDRD30; p53BP1 Summary This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in brain (RPKM 10.8), testis (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
TP53BP2, Official Symbol TP53BP2provided by HGNC Official Full Name tumor protein p53 binding protein 2provided by HGNC Primary source HGNC:HGNC:12000 See related Ensembl:ENSG00000143514 MIM:602143; AllianceGenome:HGNC:12000 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 BBP; 53BP2; ASPP2; P53BP2; PPP1R13A Summary This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 18.6), brain (RPKM 14.3) and 25 other tissues See more Orthologs mouse all
TP53I11, Official Symbol TP53I11provided by HGNC Official Full Name tumor protein p53 inducible protein 11provided by HGNC Primary source HGNC:HGNC:16842 See related Ensembl:ENSG00000175274 MIM:617867; AllianceGenome:HGNC:16842 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 PIG11 Summary Predicted to be involved in negative regulation of cell population proliferation. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 12.0), fat (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
TP53I13, Official Symbol TP53I13provided by HGNC Official Full Name tumor protein p53 inducible protein 13provided by HGNC Primary source HGNC:HGNC:25102 See related Ensembl:ENSG00000167543 AllianceGenome:HGNC:25102 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 DSCP1 Summary Involved in several processes, including negative regulation of cell cycle; response to UV; and response to xenobiotic stimulus. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 17.1), spleen (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
TP53I3, Official Symbol TP53I3provided by HGNC Official Full Name tumor protein p53 inducible protein 3provided by HGNC Primary source HGNC:HGNC:19373 See related Ensembl:ENSG00000115129 MIM:605171; AllianceGenome:HGNC:19373 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 PIG3 Summary The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] Expression Broad expression in esophagus (RPKM 29.3), small intestine (RPKM 17.8) and 24 other tissues See more Orthologs mouse all
TP53INP1, Official Symbol TP53INP1provided by HGNC Official Full Name tumor protein p53 inducible nuclear protein 1provided by HGNC Primary source HGNC:HGNC:18022 See related Ensembl:ENSG00000164938 MIM:606185; AllianceGenome:HGNC:18022 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 SIP; Teap; p53DINP1; TP53DINP1; TP53INP1A; TP53INP1B Summary Predicted to enable antioxidant activity. Involved in autophagic cell death; positive regulation of autophagy; and positive regulation of transcription, DNA-templated. Located in autophagosome; cytosol; and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 25.0), testis (RPKM 21.8) and 25 other tissues See more Orthologs mouse all
TP53INP2, Official Symbol TP53INP2provided by HGNC Official Full Name tumor protein p53 inducible nuclear protein 2provided by HGNC Primary source HGNC:HGNC:16104 See related Ensembl:ENSG00000078804 MIM:617549; AllianceGenome:HGNC:16104 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 DOR; PIGU; PINH; PIG-U; C20orf110; dJ1181N3.1 Summary The protein encoded by this gene promotes autophagy and is essential for proper autophagosome formation and processing. In addition, the encoded protein can enhance rDNA transcription by helping in the assembly of the POLR1/RNA polymerase I preinitiation complex. Finally, this protein serves as a transcriptional activator for some genes. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in esophagus (RPKM 35.1), brain (RPKM 34.7) and 25 other tissues See more Orthologs mouse all
TP53RK, Official Symbol TP53RKprovided by HGNC Official Full Name TP53 regulating kinaseprovided by HGNC Primary source HGNC:HGNC:16197 See related Ensembl:ENSG00000172315 MIM:608679; AllianceGenome:HGNC:16197 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 PRPK; BUD32; TPRKB; GAMOS4; Nori-2; Nori-2p; dJ101A2; C20orf64 Summary Enables p53 binding activity and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cytoplasm and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 4. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 5.4), thyroid (RPKM 5.0) and 25 other tissues See more Orthologs all
TP53TG1, Official Symbol TP53TG1provided by HGNC Official Full Name TP53 target 1provided by HGNC Primary source HGNC:HGNC:17026 See related Ensembl:ENSG00000182165 MIM:616403; AllianceGenome:HGNC:17026 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P53TG1; TP53AP1; P53TG1-D; TP53LC12; LINC00096; NCRNA00096 Expression Ubiquitous expression in prostate (RPKM 16.5), colon (RPKM 12.1) and 25 other tissues See more
TP53TG3, Official Symbol TP53TG3provided by HGNC Official Full Name TP53 target 3provided by HGNC Primary source HGNC:HGNC:30759 See related Ensembl:ENSG00000183632 MIM:617482; AllianceGenome:HGNC:30759 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 P53TG3; TP53TG3A; TP53TG3E; TP53TG3F Summary Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 7.8), adrenal (RPKM 0.7) and 2 other tissues See more
TP53TG3B, Official Symbol TP53TG3Bprovided by HGNC Official Full Name TP53 target 3Bprovided by HGNC Primary source HGNC:HGNC:37202 See related Ensembl:ENSG00000261509 AllianceGenome:HGNC:37202 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 TP53TG3E; TP53TG3F Summary Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 7.8), placenta (RPKM 0.6) and 2 other tissues See more
TP53TG3C, Official Symbol TP53TG3Cprovided by HGNC Official Full Name TP53 target 3Cprovided by HGNC Primary source HGNC:HGNC:42962 See related Ensembl:ENSG00000205457 AllianceGenome:HGNC:42962 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 TP53TG3; TP53TG3E; TP53TG3F Summary Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 7.4), placenta (RPKM 0.6) and 2 other tissues See more
TP53TG3D, Official Symbol TP53TG3Dprovided by HGNC Official Full Name TP53 target 3Dprovided by HGNC Primary source HGNC:HGNC:44657 See related Ensembl:ENSG00000205456 AllianceGenome:HGNC:44657 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 TP53TG3; TP53TG3B; TP53TG3C; TP53TG3E; TP53TG3F Summary Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 7.8), adrenal (RPKM 0.8) and 4 other tissues See more
TP53TG3E, Official Symbol TP53TG3Eprovided by HGNC Official Full Name TP53 target 3 family member Eprovided by HGNC Primary source HGNC:HGNC:51816 See related Ensembl:ENSG00000275034 AllianceGenome:HGNC:51816 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 TP53TG3; TP53TG3B; TP53TG3C; TP53TG3D; TP53TG3F Summary Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 7.4), placenta (RPKM 0.6) and 2 other tissues See more
TP53TG3F, Official Symbol TP53TG3Fprovided by HGNC Official Full Name TP53 target 3 family member Fprovided by HGNC Primary source HGNC:HGNC:51817 See related Ensembl:ENSG00000278848 AllianceGenome:HGNC:51817 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 TP53TG3; TP53TG3B; TP53TG3C; TP53TG3D; TP53TG3E Summary Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 7.8), placenta (RPKM 0.6) and 2 other tissues See more
TP53TG3GP, Official Symbol TP53TG3GPprovided by HGNC Official Full Name TP53 target 3 family member G, pseudogeneprovided by HGNC Primary source HGNC:HGNC:51818 See related Ensembl:ENSG00000261274 AllianceGenome:HGNC:51818 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TP53TG3HP, Official Symbol TP53TG3HPprovided by HGNC Official Full Name TP53 target 3 family member H, pseudogeneprovided by HGNC Primary source HGNC:HGNC:51819 See related AllianceGenome:HGNC:51819 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 6.9) See more
TP53TG5, Official Symbol TP53TG5provided by HGNC Official Full Name TP53 target 5provided by HGNC Primary source HGNC:HGNC:15856 See related Ensembl:ENSG00000124251 MIM:617316; AllianceGenome:HGNC:15856 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 CLG01; C20orf10 Summary Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 14.6) and brain (RPKM 1.1) See more Orthologs mouse all
TP63, Official Symbol TP63provided by HGNC Official Full Name tumor protein p63provided by HGNC Primary source HGNC:HGNC:15979 See related Ensembl:ENSG00000073282 MIM:603273; AllianceGenome:HGNC:15979 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 AIS; KET; LMS; NBP; RHS; p40; p51; p63; EEC3; OFC8; p73H; p73L; SHFM4; TP53L; TP73L; p53CP; TP53CP; B(p51A); B(p51B) Summary This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016] Expression Biased expression in skin (RPKM 45.0), esophagus (RPKM 18.6) and 3 other tissues See more Orthologs mouse all
TP73, Official Symbol TP73provided by HGNC Official Full Name tumor protein p73provided by HGNC Primary source HGNC:HGNC:12003 See related Ensembl:ENSG00000078900 MIM:601990; AllianceGenome:HGNC:12003 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 P73; CILD47 Summary This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011] Expression Broad expression in skin (RPKM 3.5), prostate (RPKM 1.2) and 14 other tissues See more Orthologs mouse all
TP73-AS2, Official Symbol TP73-AS2provided by HGNC Official Full Name TP73 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40591 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
TP73-AS3, Official Symbol TP73-AS3provided by HGNC Official Full Name TP73 antisense RNA 3provided by HGNC Primary source HGNC:HGNC:40590 See related AllianceGenome:HGNC:40590 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
TPBG, Official Symbol TPBGprovided by HGNC Official Full Name trophoblast glycoproteinprovided by HGNC Primary source HGNC:HGNC:12004 See related Ensembl:ENSG00000146242 MIM:190920; AllianceGenome:HGNC:12004 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 5T4; M6P1; 5T4AG; WAIF1 Summary This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in esophagus (RPKM 8.0), endometrium (RPKM 5.0) and 22 other tissues See more Orthologs mouse all
TPBGL, Official Symbol TPBGLprovided by HGNC Official Full Name trophoblast glycoprotein likeprovided by HGNC Primary source HGNC:HGNC:44159 See related Ensembl:ENSG00000261594 AllianceGenome:HGNC:44159 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 involved in negative regulation of canonical Wnt signaling pathway. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
TPCN1, Official Symbol TPCN1provided by HGNC Official Full Name two pore segment channel 1provided by HGNC Primary source HGNC:HGNC:18182 See related Ensembl:ENSG00000186815 MIM:609666; AllianceGenome:HGNC:18182 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 TPC1 Summary Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in kidney (RPKM 17.8), heart (RPKM 16.1) and 25 other tissues See more Orthologs mouse all
TPCN2, Official Symbol TPCN2provided by HGNC Official Full Name two pore segment channel 2provided by HGNC Primary source HGNC:HGNC:20820 See related Ensembl:ENSG00000162341 MIM:612163; AllianceGenome:HGNC:20820 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 TPC2; SHEP10 Summary This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009] Expression Ubiquitous expression in skin (RPKM 3.4), endometrium (RPKM 3.2) and 25 other tissues See more Orthologs mouse all
TPD52, Official Symbol TPD52provided by HGNC Official Full Name tumor protein D52provided by HGNC Primary source HGNC:HGNC:12005 See related Ensembl:ENSG00000076554 MIM:604068; AllianceGenome:HGNC:12005 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 D52; N8L; PC-1; PrLZ; hD52 Summary Enables calcium ion binding activity and protein homodimerization activity. Involved in B cell differentiation. Located in endoplasmic reticulum and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 43.8), prostate (RPKM 36.3) and 23 other tissues See more Orthologs mouse all
TPD52-MRPS28, Gene symbol TPD52-MRPS28 Gene description TPD52-MRPS28 readthrough 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 readthrough transcription between the neighboring TPD52 (tumor protein D52) and MRPS28 (mitochondrial ribosomal protein S28) genes on chromosome 8. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2022]
TPD52L1, Official Symbol TPD52L1provided by HGNC Official Full Name TPD52 like 1provided by HGNC Primary source HGNC:HGNC:12006 See related Ensembl:ENSG00000111907 MIM:604069; AllianceGenome:HGNC:12006 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 D53; TPD53 Summary This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016] Expression Broad expression in adrenal (RPKM 40.8), salivary gland (RPKM 18.6) and 14 other tissues See more Orthologs mouse all
TPD52L2, Official Symbol TPD52L2provided by HGNC Official Full Name TPD52 like 2provided by HGNC Primary source HGNC:HGNC:12007 See related Ensembl:ENSG00000101150 MIM:603747; AllianceGenome:HGNC:12007 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 D54; TPD54 Summary This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. 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 12. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in esophagus (RPKM 35.6), bone marrow (RPKM 34.4) and 25 other tissues See more Orthologs mouse all
TPD52L3, Official Symbol TPD52L3provided by HGNC Official Full Name TPD52 like 3provided by HGNC Primary source HGNC:HGNC:23382 See related Ensembl:ENSG00000170777 MIM:617567; AllianceGenome:HGNC:23382 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 D55; hD55; TPD55; NYDSP25 Summary This gene encodes a member of the tumor protein D52-like family of proteins. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. The encoded protein may play a role in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Restricted expression toward testis (RPKM 52.1) See more Orthologs mouse all
TPGS1, Official Symbol TPGS1provided by HGNC Official Full Name tubulin polyglutamylase complex subunit 1provided by HGNC Primary source HGNC:HGNC:25058 See related Ensembl:ENSG00000141933 AllianceGenome:HGNC:25058 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 PGs1; C19orf20; GTRGEO22 Summary Predicted to enable microtubule binding activity. Predicted to be involved in protein polyglutamylation. Predicted to act upstream of or within several processes, including adult behavior; chemical synaptic transmission; and sperm axoneme assembly. Located in centrosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 5.9), fat (RPKM 4.3) and 18 other tissues See more Orthologs mouse all
TPGS2, Official Symbol TPGS2provided by HGNC Official Full Name tubulin polyglutamylase complex subunit 2provided by HGNC Primary source HGNC:HGNC:24561 See related Ensembl:ENSG00000134779 AllianceGenome:HGNC:24561 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 L17; PGs2; C18orf10; HMFN0601 Summary This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012] Expression Broad expression in testis (RPKM 16.4), brain (RPKM 5.6) and 24 other tissues See more Orthologs mouse all
TPH1, Official Symbol TPH1provided by HGNC Official Full Name tryptophan hydroxylase 1provided by HGNC Primary source HGNC:HGNC:12008 See related Ensembl:ENSG00000129167 MIM:191060; AllianceGenome:HGNC:12008 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 TPRH; TRPH Summary This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others.[provided by RefSeq, Apr 2009] Expression Biased expression in stomach (RPKM 7.1), colon (RPKM 5.4) and 7 other tissues See more Orthologs mouse all
TPH2, Official Symbol TPH2provided by HGNC Official Full Name tryptophan hydroxylase 2provided by HGNC Primary source HGNC:HGNC:20692 See related Ensembl:ENSG00000139287 MIM:607478; AllianceGenome:HGNC:20692 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 NTPH; ADHD7 Summary This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
TPI1, Official Symbol TPI1provided by HGNC Official Full Name triosephosphate isomerase 1provided by HGNC Primary source HGNC:HGNC:12009 See related Ensembl:ENSG00000111669 MIM:190450; AllianceGenome:HGNC:12009 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 TIM; TPI; TPID; HEL-S-49 Summary This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Expression Ubiquitous expression in heart (RPKM 181.7), brain (RPKM 179.1) and 25 other tissues See more Orthologs mouse all
TPI1P2, Official Symbol TPI1P2provided by HGNC Official Full Name triosephosphate isomerase 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38069 See related Ensembl:ENSG00000230359 AllianceGenome:HGNC:38069 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TPK1, Official Symbol TPK1provided by HGNC Official Full Name thiamin pyrophosphokinase 1provided by HGNC Primary source HGNC:HGNC:17358 See related Ensembl:ENSG00000196511 MIM:606370; AllianceGenome:HGNC:17358 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 PP20; HTPK1; THMD5 Summary The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in duodenum (RPKM 1.3), testis (RPKM 0.7) and 24 other tissues See more Orthologs mouse all