psui3905/ncbi_genes_summary huggingface dataset:
GTF2H4, Official Symbol GTF2H4provided by HGNC Official Full Name general transcription factor IIH subunit 4provided by HGNC Primary source HGNC:HGNC:4658 See related Ensembl:ENSG00000213780 MIM:601760; AllianceGenome:HGNC:4658 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 P52; TFB2; TFIIH Summary Enables RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in nuclear speck. Part of core TFIIH complex portion of holo TFIIH complex and transcription factor TFIID complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in appendix (RPKM 9.1), endometrium (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
GTF2H5, Official Symbol GTF2H5provided by HGNC Official Full Name general transcription factor IIH subunit 5provided by HGNC Primary source HGNC:HGNC:21157 See related Ensembl:ENSG00000272047 MIM:608780; AllianceGenome:HGNC:21157 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 TTD; TFB5; TTD3; TTDA; TFIIH; TTD-A; TGF2H5; C6orf175; bA120J8.2 Summary This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in brain (RPKM 4.4), fat (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
GTF2I, Official Symbol GTF2Iprovided by HGNC Official Full Name general transcription factor IIiprovided by HGNC Primary source HGNC:HGNC:4659 See related Ensembl:ENSG00000263001 MIM:601679; AllianceGenome:HGNC:4659 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 WBS; DIWS; SPIN; IB291; BAP135; BTKAP1; TFII-I; WBSCR6; GTFII-I Summary This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in brain (RPKM 105.1), thyroid (RPKM 95.5) and 25 other tissues See more Orthologs mouse all
GTF2IP1, Official Symbol GTF2IP1provided by HGNC Official Full Name general transcription factor IIi pseudogene 1provided by HGNC Primary source HGNC:HGNC:4660 See related Ensembl:ENSG00000290871 AllianceGenome:HGNC:4660 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WBSCR7 Expression Ubiquitous expression in brain (RPKM 127.2), thyroid (RPKM 95.5) and 25 other tissues See more
GTF2IP11, Official Symbol GTF2IP11provided by HGNC Official Full Name general transcription factor IIi pseudogene 11provided by HGNC Primary source HGNC:HGNC:51724 See related Ensembl:ENSG00000255199 AllianceGenome:HGNC:51724 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GTF2IP12, Official Symbol GTF2IP12provided by HGNC Official Full Name general transcription factor IIi pseudogene 12provided by HGNC Primary source HGNC:HGNC:51723 See related Ensembl:ENSG00000291202 AllianceGenome:HGNC:51723 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 Ubiquitous expression in testis (RPKM 1.2), bone marrow (RPKM 0.7) and 25 other tissues See more
GTF2IP14, Official Symbol GTF2IP14provided by HGNC Official Full Name general transcription factor IIi pseudogene 14provided by HGNC Primary source HGNC:HGNC:51726 See related Ensembl:ENSG00000226002 AllianceGenome:HGNC:51726 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GTF2IP22, Official Symbol GTF2IP22provided by HGNC Official Full Name general transcription factor IIi pseudogene 22provided by HGNC Primary source HGNC:HGNC:51734 See related Ensembl:ENSG00000259095 AllianceGenome:HGNC:51734 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GTF2IP3, Official Symbol GTF2IP3provided by HGNC Official Full Name general transcription factor IIi pseudogene 3provided by HGNC Primary source HGNC:HGNC:42640 See related Ensembl:ENSG00000187721 AllianceGenome:HGNC:42640 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GTF2IP4, Official Symbol GTF2IP4provided by HGNC Official Full Name general transcription factor IIi pseudogene 4provided by HGNC Primary source HGNC:HGNC:51716 See related Ensembl:ENSG00000233369 AllianceGenome:HGNC:51716 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GTF2I Expression Ubiquitous expression in brain (RPKM 129.8), thyroid (RPKM 92.9) and 25 other tissues See more
GTF2IP5, Official Symbol GTF2IP5provided by HGNC Official Full Name general transcription factor IIi pseudogene 5provided by HGNC Primary source HGNC:HGNC:51717 See related Ensembl:ENSG00000224316 AllianceGenome:HGNC:51717 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GTF2IP9, Official Symbol GTF2IP9provided by HGNC Official Full Name general transcription factor IIi pseudogene 9provided by HGNC Primary source HGNC:HGNC:51721 See related Ensembl:ENSG00000251451 AllianceGenome:HGNC:51721 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GTF2IRD1, Official Symbol GTF2IRD1provided by HGNC Official Full Name GTF2I repeat domain containing 1provided by HGNC Primary source HGNC:HGNC:4661 See related Ensembl:ENSG00000006704 MIM:604318; AllianceGenome:HGNC:4661 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 BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1 Summary The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in thyroid (RPKM 6.1), esophagus (RPKM 4.7) and 23 other tissues See more Orthologs mouse all
GTF2IRD2, Official Symbol GTF2IRD2provided by HGNC Official Full Name GTF2I repeat domain containing 2provided by HGNC Primary source HGNC:HGNC:30775 See related Ensembl:ENSG00000196275 MIM:608899; AllianceGenome:HGNC:30775 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 FP630; GTF2IRD2A; GTF2IRD2 alpha Summary This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in ovary (RPKM 19.9), endometrium (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
GTF2IRD2B, Official Symbol GTF2IRD2Bprovided by HGNC Official Full Name GTF2I repeat domain containing 2Bprovided by HGNC Primary source HGNC:HGNC:33125 See related Ensembl:ENSG00000174428 MIM:608900; AllianceGenome:HGNC:33125 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 GTF2IRD2; GTF2IRD2A Summary This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 24.7), endometrium (RPKM 16.2) and 25 other tissues See more Orthologs all
GTF2IRD2P1, Official Symbol GTF2IRD2P1provided by HGNC Official Full Name GTF2I repeat domain containing 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:33127 See related Ensembl:ENSG00000214544 AllianceGenome:HGNC:33127 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 GTF2IRD2P
GTF3A, Official Symbol GTF3Aprovided by HGNC Official Full Name general transcription factor IIIAprovided by HGNC Primary source HGNC:HGNC:4662 See related Ensembl:ENSG00000122034 MIM:600860; AllianceGenome:HGNC:4662 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 AP2; TFIIIA Summary The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 54.8), heart (RPKM 50.8) and 25 other tissues See more Orthologs mouse all
GTF3AP2, Official Symbol GTF3AP2provided by HGNC Official Full Name general transcription factor IIIA pseudogene 2provided by HGNC Primary source HGNC:HGNC:49745 See related Ensembl:ENSG00000258966 AllianceGenome:HGNC:49745 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GTF3C1, Official Symbol GTF3C1provided by HGNC Official Full Name general transcription factor IIIC subunit 1provided by HGNC Primary source HGNC:HGNC:4664 See related Ensembl:ENSG00000077235 MIM:603246; AllianceGenome:HGNC:4664 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 TFIIIC; TFIIIC220; TFIIICalpha Summary Predicted to contribute to DNA binding activity. Predicted to be involved in 5S class rRNA transcription by RNA polymerase III and transcription initiation from RNA polymerase III promoter. Located in nucleolus and nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 19.5), prostate (RPKM 18.6) and 25 other tissues See more Orthologs mouse all
GTF3C2, Official Symbol GTF3C2provided by HGNC Official Full Name general transcription factor IIIC subunit 2provided by HGNC Primary source HGNC:HGNC:4665 See related Ensembl:ENSG00000115207 MIM:604883; AllianceGenome:HGNC:4665 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 TF3C-beta; TFIIIC110; TFIIIC-BETA Summary Contributes to DNA binding activity. Involved in transcription by RNA polymerase III. Located in nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 13.6), skin (RPKM 10.5) and 25 other tissues See more Orthologs mouse all
GTF3C2-AS1, Official Symbol GTF3C2-AS1provided by HGNC Official Full Name GTF3C2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40269 See related Ensembl:ENSG00000234945 AllianceGenome:HGNC:40269 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in thyroid (RPKM 8.4), testis (RPKM 7.4) and 25 other tissues See more
GTF3C3, Official Symbol GTF3C3provided by HGNC Official Full Name general transcription factor IIIC subunit 3provided by HGNC Primary source HGNC:HGNC:4666 See related Ensembl:ENSG00000119041 MIM:604888; AllianceGenome:HGNC:4666 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 TFIIIC102; TFIIICgamma; TFiiiC2-102 Summary The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in testis (RPKM 7.9), thyroid (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
GTF3C4, Official Symbol GTF3C4provided by HGNC Official Full Name general transcription factor IIIC subunit 4provided by HGNC Primary source HGNC:HGNC:4667 See related Ensembl:ENSG00000125484 MIM:604892; AllianceGenome:HGNC:4667 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 KAT12; TFIII90; TFIIIC90; TFIIIC290; TF3C-delta; TFIIICDELTA Summary Predicted to enable enzyme activator activity. Predicted to contribute to DNA binding activity. Predicted to be involved in 5S class rRNA transcription by RNA polymerase III and tRNA transcription by RNA polymerase III. Located in mitochondrion and nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 5.9), testis (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
GTF3C5, Official Symbol GTF3C5provided by HGNC Official Full Name general transcription factor IIIC subunit 5provided by HGNC Primary source HGNC:HGNC:4668 See related Ensembl:ENSG00000148308 MIM:604890; AllianceGenome:HGNC:4668 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 TFIIIC63; TFiiiC2-63; TFIIICepsilon Summary Predicted to contribute to DNA binding activity. Predicted to be involved in 5S class rRNA transcription by RNA polymerase III and tRNA transcription by RNA polymerase III. Predicted to act upstream of or within skeletal muscle cell differentiation. Located in nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 17.0), testis (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
GTF3C6, Official Symbol GTF3C6provided by HGNC Official Full Name general transcription factor IIIC subunit 6provided by HGNC Primary source HGNC:HGNC:20872 See related Ensembl:ENSG00000155115 MIM:611784; AllianceGenome:HGNC:20872 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 C6orf51; TFIIIC35; bA397G5.3 Summary RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in prostate (RPKM 34.5), testis (RPKM 28.5) and 25 other tissues See more Orthologs mouse all
GTF3C6P1, Official Symbol GTF3C6P1provided by HGNC Official Full Name GTF3C6 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55023 See related Ensembl:ENSG00000215085 AllianceGenome:HGNC:55023 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GTF3C6P3, Official Symbol GTF3C6P3provided by HGNC Official Full Name GTF3C6 pseudogene 3provided by HGNC Primary source HGNC:HGNC:55025 See related Ensembl:ENSG00000270196 AllianceGenome:HGNC:55025 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GTPBP1, Official Symbol GTPBP1provided by HGNC Official Full Name GTP binding protein 1provided by HGNC Primary source HGNC:HGNC:4669 See related Ensembl:ENSG00000100226 MIM:602245; AllianceGenome:HGNC:4669 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 GP1; GP-1; HSPC018 Summary This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 26.4), spleen (RPKM 10.5) and 25 other tissues See more Orthologs mouse all
GTPBP10, Official Symbol GTPBP10provided by HGNC Official Full Name GTP binding protein 10provided by HGNC Primary source HGNC:HGNC:25106 See related Ensembl:ENSG00000105793 MIM:610920; AllianceGenome:HGNC:25106 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 ObgH2; UG0751c10 Summary Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in thyroid (RPKM 3.6), kidney (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
GTPBP2, Official Symbol GTPBP2provided by HGNC Official Full Name GTP binding protein 2provided by HGNC Primary source HGNC:HGNC:4670 See related Ensembl:ENSG00000172432 MIM:607434; AllianceGenome:HGNC:4670 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 JABELS Summary GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003] Expression Ubiquitous expression in thyroid (RPKM 18.8), esophagus (RPKM 18.0) and 25 other tissues See more Orthologs mouse all
GTPBP3, Official Symbol GTPBP3provided by HGNC Official Full Name GTP binding protein 3, mitochondrialprovided by HGNC Primary source HGNC:HGNC:14880 See related Ensembl:ENSG00000130299 MIM:608536; AllianceGenome:HGNC:14880 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 MSS1; MTGP1; THDF1; GTPBG3; COXPD23 Summary This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010] Expression Ubiquitous expression in spleen (RPKM 3.4), skin (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
GTPBP4, Official Symbol GTPBP4provided by HGNC Official Full Name GTP binding protein 4provided by HGNC Primary source HGNC:HGNC:21535 See related Ensembl:ENSG00000107937 MIM:619169; AllianceGenome:HGNC:21535 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 NGB; CRFG; NOG1 Summary GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 19.5), testis (RPKM 18.5) and 25 other tissues See more Orthologs mouse all
GTPBP6, Official Symbol GTPBP6provided by HGNC Official Full Name GTP binding protein 6 (putative)provided by HGNC Primary source HGNC:HGNC:30189 See related Ensembl:ENSG00000178605 Ensembl:ENSG00000292358 MIM:300124; AllianceGenome:HGNC:30189 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 PGPL Summary This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in kidney (RPKM 14.1), spleen (RPKM 12.8) and 25 other tissues See more Orthologs mouse all
GTPBP8, Official Symbol GTPBP8provided by HGNC Official Full Name GTP binding protein 8 (putative)provided by HGNC Primary source HGNC:HGNC:25007 See related Ensembl:ENSG00000163607 AllianceGenome:HGNC:25007 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 HSPC135 Summary Predicted to enable GTP binding activity and metal ion binding activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 4.6), thyroid (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
GTSCR1, Official Symbol GTSCR1provided by HGNC Official Full Name Gilles de la Tourette syndrome chromosome region, candidate 1provided by HGNC Primary source HGNC:HGNC:18406 See related Ensembl:ENSG00000263417 AllianceGenome:HGNC:18406 Gene type ncRNA 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 Low expression observed in reference dataset See more Orthologs all
GTSE1, Official Symbol GTSE1provided by HGNC Official Full Name G2 and S-phase expressed 1provided by HGNC Primary source HGNC:HGNC:13698 See related Ensembl:ENSG00000075218 MIM:607477; AllianceGenome:HGNC:13698 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 B99 Summary The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 2.8), lymph node (RPKM 2.7) and 15 other tissues See more Orthologs mouse all
GTSE1-DT, Official Symbol GTSE1-DTprovided by HGNC Official Full Name GTSE1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:27163 See related Ensembl:ENSG00000277232 AllianceGenome:HGNC:27163 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 CN5H6.4; GTSE1-AS1; LL22NC03-5H6.6
GTSF1, Official Symbol GTSF1provided by HGNC Official Full Name gametocyte specific factor 1provided by HGNC Primary source HGNC:HGNC:26565 See related Ensembl:ENSG00000170627 MIM:617484; AllianceGenome:HGNC:26565 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 Cue110; FAM112B Summary Predicted to enable metal ion binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 49.6) See more Orthologs mouse all
GTSF1L, Official Symbol GTSF1Lprovided by HGNC Official Full Name gametocyte specific factor 1 likeprovided by HGNC Primary source HGNC:HGNC:16198 See related Ensembl:ENSG00000124196 AllianceGenome:HGNC:16198 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 FAM112A; C20orf65; dJ1028D15.4 Summary Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 59.3) See more Orthologs mouse all
GUCA1A, Official Symbol GUCA1Aprovided by HGNC Official Full Name guanylate cyclase activator 1Aprovided by HGNC Primary source HGNC:HGNC:4678 See related Ensembl:ENSG00000048545 MIM:600364; AllianceGenome:HGNC:4678 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 COD3; GCAP; GUCA; GCAP1; GUCA1; CORD14; GCAP-1; GCAP-I; C6orf131 Summary This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. provided by RefSeq, Jul 2020] Expression Restricted expression toward testis (RPKM 15.8) See more Orthologs mouse all
GUCA1B, Official Symbol GUCA1Bprovided by HGNC Official Full Name guanylate cyclase activator 1Bprovided by HGNC Primary source HGNC:HGNC:4679 See related Ensembl:ENSG00000112599 MIM:602275; AllianceGenome:HGNC:4679 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 RP48; GCAP2; GUCA2; GCAP 2; GCAP-2; GCAP-II Summary The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in skin (RPKM 1.1), testis (RPKM 0.8) and 24 other tissues See more Orthologs mouse all
GUCA1C, Official Symbol GUCA1Cprovided by HGNC Official Full Name guanylate cyclase activator 1Cprovided by HGNC Primary source HGNC:HGNC:4680 See related Ensembl:ENSG00000138472 MIM:605128; AllianceGenome:HGNC:4680 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 GCAP3 Summary Predicted to enable calcium ion binding activity and calcium sensitive guanylate cyclase activator activity. Predicted to be involved in signal transduction. Predicted to be located in photoreceptor disc membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in pancreas (RPKM 3.4), heart (RPKM 3.1) and 2 other tissues See more Orthologs all
GUCA2A, Official Symbol GUCA2Aprovided by HGNC Official Full Name guanylate cyclase activator 2Aprovided by HGNC Primary source HGNC:HGNC:4682 See related Ensembl:ENSG00000197273 MIM:139392; AllianceGenome:HGNC:4682 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 GUCA2; STARA; GCAP-I Summary Predicted to enable guanylate cyclase activator activity. Predicted to be involved in positive regulation of guanylate cyclase activity and signal transduction. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in small intestine (RPKM 352.1), colon (RPKM 198.7) and 1 other tissue See more Orthologs mouse all
GUCA2B, Official Symbol GUCA2Bprovided by HGNC Official Full Name guanylate cyclase activator 2Bprovided by HGNC Primary source HGNC:HGNC:4683 See related Ensembl:ENSG00000044012 MIM:601271; AllianceGenome:HGNC:4683 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 UGN; GCAP-II Summary This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products, including uroguanylin, a member of the guanylin family of peptides and an endogenous ligand of the guanylate cyclase-C receptor. Binding of this peptide to its cognate receptor stimulates an increase in cyclic GMP and may regulate salt and water homeostasis in the intestine and kidneys. [provided by RefSeq, Nov 2015] Expression Biased expression in small intestine (RPKM 47.4), colon (RPKM 37.0) and 1 other tissue See more Orthologs mouse all
GUCD1, Official Symbol GUCD1provided by HGNC Official Full Name guanylyl cyclase domain containing 1provided by HGNC Primary source HGNC:HGNC:14237 See related Ensembl:ENSG00000138867 MIM:619171; AllianceGenome:HGNC:14237 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 LLN4; C22orf13 Expression Ubiquitous expression in bone marrow (RPKM 29.5), duodenum (RPKM 28.4) and 25 other tissues See more Orthologs mouse all
GUCY1A1, Official Symbol GUCY1A1provided by HGNC Official Full Name guanylate cyclase 1 soluble subunit alpha 1provided by HGNC Primary source HGNC:HGNC:4685 See related Ensembl:ENSG00000164116 MIM:139396; AllianceGenome:HGNC:4685 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 GUCA3; MYMY6; GC-SA3; GUC1A3; GUCSA3; GUCY1A3; GCS-alpha-3; GC-S-alpha-1 Summary Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in prostate (RPKM 11.3), heart (RPKM 8.5) and 24 other tissues See more Orthologs mouse all
GUCY1A2, Official Symbol GUCY1A2provided by HGNC Official Full Name guanylate cyclase 1 soluble subunit alpha 2provided by HGNC Primary source HGNC:HGNC:4684 See related Ensembl:ENSG00000152402 MIM:601244; AllianceGenome:HGNC:4684 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 GC-SA2; GUC1A2 Summary Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in endometrium (RPKM 8.8), placenta (RPKM 7.4) and 15 other tissues See more Orthologs mouse all
GUCY1B1, Official Symbol GUCY1B1provided by HGNC Official Full Name guanylate cyclase 1 soluble subunit beta 1provided by HGNC Primary source HGNC:HGNC:4687 See related Ensembl:ENSG00000061918 MIM:139397; AllianceGenome:HGNC:4687 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 GUCB3; GC-SB3; GUC1B3; GUCSB3; GUCY1B3; GC-S-beta-1 Summary This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Expression Broad expression in brain (RPKM 21.9), placenta (RPKM 13.8) and 21 other tissues See more Orthologs mouse all
GUCY1B2, Official Symbol GUCY1B2provided by HGNC Official Full Name guanylate cyclase 1 soluble subunit beta 2 (pseudogene)provided by HGNC Primary source HGNC:HGNC:4686 See related Ensembl:ENSG00000123201 MIM:603695; AllianceGenome:HGNC:4686 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GC-SB2 Summary Predicted to enable several functions, including GTP binding activity; guanylate cyclase activity; and heme binding activity. Predicted to be involved in cGMP-mediated signaling. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more
GUCY2C, Official Symbol GUCY2Cprovided by HGNC Official Full Name guanylate cyclase 2Cprovided by HGNC Primary source HGNC:HGNC:4688 See related Ensembl:ENSG00000070019 MIM:601330; AllianceGenome:HGNC:4688 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 GCC; GC-C; HSER; STAR; DIAR6; GUC2C; MECIL; MUCIL Summary This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016] Expression Biased expression in duodenum (RPKM 36.3), small intestine (RPKM 36.1) and 2 other tissues See more Orthologs mouse all
GUCY2D, Official Symbol GUCY2Dprovided by HGNC Official Full Name guanylate cyclase 2D, retinalprovided by HGNC Primary source HGNC:HGNC:4689 See related Ensembl:ENSG00000132518 MIM:600179; AllianceGenome:HGNC:4689 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 LCA; CACD; CG-E; CYGD; LCA1; RCD2; CACD1; CORD5; CORD6; GUC2D; ROSGC; retGC; CSNB1I; GUC1A4; RETGC-1; ROS-GC1 Summary This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
GUCY2EP, Official Symbol GUCY2EPprovided by HGNC Official Full Name guanylate cyclase 2E, pseudogeneprovided by HGNC Primary source HGNC:HGNC:4690 See related MIM:601138; AllianceGenome:HGNC:4690 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GCD; GC-E; GUCY2E Summary This olfactory specific guanylyl cyclase is part of the mammalian olfactory system and and encodes a protein involved in chemosensation in rodents. The gene has become inactivated to become a pseudogene is humans and most primates. [provided by RefSeq, Oct 2008] Expression Low expression observed in reference dataset See more
GUCY2F, Official Symbol GUCY2Fprovided by HGNC Official Full Name guanylate cyclase 2F, retinalprovided by HGNC Primary source HGNC:HGNC:4691 See related Ensembl:ENSG00000101890 MIM:300041; AllianceGenome:HGNC:4691 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 CYGF; GC-F; GUC2F; GUC2DL; RETGC-2; ROS-GC2 Summary The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
GUCY2GP, Official Symbol GUCY2GPprovided by HGNC Official Full Name guanylate cyclase 2G, pseudogeneprovided by HGNC Primary source HGNC:HGNC:31863 See related Ensembl:ENSG00000243316 AllianceGenome:HGNC:31863 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GUCY2G Summary Predicted to enable guanylate cyclase activity. Predicted to be located in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more
GUF1, Official Symbol GUF1provided by HGNC Official Full Name GTP binding elongation factor GUF1provided by HGNC Primary source HGNC:HGNC:25799 See related Ensembl:ENSG00000151806 MIM:617064; AllianceGenome:HGNC:25799 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 EF4; EF-4; DEE40; EIEE40 Summary This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in brain (RPKM 5.7), testis (RPKM 4.4) and 25 other tissues See more Orthologs mouse all
GUK1, Official Symbol GUK1provided by HGNC Official Full Name guanylate kinase 1provided by HGNC Primary source HGNC:HGNC:4693 See related Ensembl:ENSG00000143774 MIM:139270; AllianceGenome:HGNC:4693 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 GMK Summary The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in bone marrow (RPKM 25.0), adrenal (RPKM 18.8) and 25 other tissues See more Orthologs mouse all
GULOP, Official Symbol GULOPprovided by HGNC Official Full Name gulonolactone (L-) oxidase, pseudogeneprovided by HGNC Primary source HGNC:HGNC:4695 See related MIM:240400; AllianceGenome:HGNC:4695 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 GULO; SCURVY Summary This gene is nonfunctional in humans and other primates. In most mammalian species the corresponding gene encodes L-gulono-gamma-lactone oxidase which catalyzes the last step of ascorbic acid biosynthesis. The human gene is a remnant that lacks five of twelve exons found in functional rodent genes. The loss of enzyme activity results in hypoascorbemia or the inability to synthesize vitamin C. [provided by RefSeq, Nov 2010]