psui3905/ncbi_genes_summary huggingface dataset:
FAT3, Official Symbol FAT3provided by HGNC Official Full Name FAT atypical cadherin 3provided by HGNC Primary source HGNC:HGNC:23112 See related Ensembl:ENSG00000165323 MIM:612483; AllianceGenome:HGNC:23112 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 hFat3; CDHF15; CDHR10 Summary Predicted to enable calcium ion binding activity. Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within several processes, including negative regulation of dendrite development; neuron migration; and retina layer formation. Predicted to be located in dendrite and plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 1.5), prostate (RPKM 0.4) and 7 other tissues See more Orthologs mouse all
FAT4, Official Symbol FAT4provided by HGNC Official Full Name FAT atypical cadherin 4provided by HGNC Primary source HGNC:HGNC:23109 See related Ensembl:ENSG00000196159 MIM:612411; AllianceGenome:HGNC:23109 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 FATJ; FAT-J; CDHF14; CDHR11; HKLLS2; VMLDS2; NBLA00548 Summary The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in gall bladder (RPKM 2.8), ovary (RPKM 2.6) and 23 other tissues See more Orthologs mouse all
FATE1, Official Symbol FATE1provided by HGNC Official Full Name fetal and adult testis expressed 1provided by HGNC Primary source HGNC:HGNC:24683 See related Ensembl:ENSG00000147378 MIM:300450; AllianceGenome:HGNC:24683 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 CT43; FATE Summary This gene encodes a cancer-testis antigen that is highly expressed in hepatocellular carcinomas and other tumors and weakly expressed in normal tissues except testis. The protein is strongly expressed in spermatogonia, primary spermatocytes, and Sertoli cells in seminiferous tubules. This protein may have a role in the control of early testicular differentiation and cell proliferation. [provided by RefSeq, Jan 2010] Expression Restricted expression toward testis (RPKM 120.2) See more Orthologs all
FAU, Official Symbol FAUprovided by HGNC Official Full Name FAU ubiquitin like and ribosomal protein S30 fusionprovided by HGNC Primary source HGNC:HGNC:3597 See related Ensembl:ENSG00000149806 MIM:134690; AllianceGenome:HGNC:3597 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 S30; FAU1; Fub1; Fubi; asr1; eS30; RPS30; MNSFbeta Summary This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome and displays antimicrobial activity. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq, Nov 2014] Expression Ubiquitous expression in ovary (RPKM 446.2), bone marrow (RPKM 364.4) and 25 other tissues See more Orthologs mouse all
FAUP1, Official Symbol FAUP1provided by HGNC Official Full Name FAU pseudogene 1provided by HGNC Primary source HGNC:HGNC:17984 See related AllianceGenome:HGNC:17984 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 FAU1P; RPS30_2_1613
FAUP2, Official Symbol FAUP2provided by HGNC Official Full Name FAU pseudogene 2provided by HGNC Primary source HGNC:HGNC:36535 See related AllianceGenome:HGNC:36535 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 RPS30_1_440
FAXC, Official Symbol FAXCprovided by HGNC Official Full Name failed axon connections homolog, metaxin like GST domain containingprovided by HGNC Primary source HGNC:HGNC:20742 See related Ensembl:ENSG00000146267 AllianceGenome:HGNC:20742 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 C6orf168; dJ273F20 Summary Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 5.0), prostate (RPKM 1.1) and 7 other tissues See more Orthologs mouse all
FAXDC2, Official Symbol FAXDC2provided by HGNC Official Full Name fatty acid hydroxylase domain containing 2provided by HGNC Primary source HGNC:HGNC:1334 See related Ensembl:ENSG00000170271 MIM:619853; AllianceGenome:HGNC:1334 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 C5orf4 Summary Predicted to enable C-4 methylsterol oxidase activity. Involved in positive regulation of megakaryocyte differentiation and positive regulation of protein phosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 20.9), ovary (RPKM 19.8) and 25 other tissues See more Orthologs mouse all
FBF1, Official Symbol FBF1provided by HGNC Official Full Name Fas binding factor 1provided by HGNC Primary source HGNC:HGNC:24674 See related Ensembl:ENSG00000188878 MIM:616807; AllianceGenome:HGNC:24674 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 Alb; FBF-1 Summary Involved in apical junction assembly and establishment of epithelial cell polarity. Acts upstream of or within cilium assembly. Located in centriole; centrosome; and spindle pole. Part of ciliary transition fiber. Colocalizes with apical junction complex and keratin filament. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 14.5), skin (RPKM 4.2) and 22 other tissues See more Orthologs mouse all
FBH1, Official Symbol FBH1provided by HGNC Official Full Name F-box DNA helicase 1provided by HGNC Primary source HGNC:HGNC:13620 See related Ensembl:ENSG00000134452 MIM:607222; AllianceGenome:HGNC:13620 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 Fbx18; hFBH1; FBXO18 Summary This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 14.4), spleen (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
FBL, Official Symbol FBLprovided by HGNC Official Full Name fibrillarinprovided by HGNC Primary source HGNC:HGNC:3599 See related Ensembl:ENSG00000105202 MIM:134795; AllianceGenome:HGNC:3599 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 FIB; FLRN; Nop1; RNU3IP1 Summary This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 114.7), bone marrow (RPKM 68.4) and 25 other tissues See more Orthologs mouse all
FBLIM1, Official Symbol FBLIM1provided by HGNC Official Full Name filamin binding LIM protein 1provided by HGNC Primary source HGNC:HGNC:24686 See related Ensembl:ENSG00000162458 MIM:607747; AllianceGenome:HGNC:24686 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 CAL; FBLP1; FBLP-1 Summary This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in gall bladder (RPKM 17.5), colon (RPKM 14.6) and 22 other tissues See more Orthologs mouse all
FBLL1, Official Symbol FBLL1provided by HGNC Official Full Name fibrillarin like 1provided by HGNC Primary source HGNC:HGNC:35458 See related Ensembl:ENSG00000188573 AllianceGenome:HGNC:35458 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable RNA binding activity; histone-glutamine methyltransferase activity; and rRNA methyltransferase activity. Predicted to be involved in box C/D RNA 3'-end processing; histone glutamine methylation; and rRNA methylation. Predicted to act upstream of or within blastocyst hatching. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
FBLN1, Official Symbol FBLN1provided by HGNC Official Full Name fibulin 1provided by HGNC Primary source HGNC:HGNC:3600 See related Ensembl:ENSG00000077942 MIM:135820; AllianceGenome:HGNC:3600 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 FBLN; FIBL1 Summary Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008] Expression Broad expression in gall bladder (RPKM 239.4), placenta (RPKM 204.3) and 16 other tissues See more Orthologs mouse all
FBLN2, Official Symbol FBLN2provided by HGNC Official Full Name fibulin 2provided by HGNC Primary source HGNC:HGNC:3601 See related Ensembl:ENSG00000163520 MIM:135821; AllianceGenome:HGNC:3601 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 72.6), placenta (RPKM 47.4) and 15 other tissues See more Orthologs mouse all
FBLN5, Official Symbol FBLN5provided by HGNC Official Full Name fibulin 5provided by HGNC Primary source HGNC:HGNC:3602 See related Ensembl:ENSG00000140092 MIM:604580; AllianceGenome:HGNC:3602 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 EVEC; UP50; ADCL2; ARMD3; CMT1H; DANCE; ARCL1A; FIBL-5; HNARMD Summary The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008] Expression Broad expression in gall bladder (RPKM 67.7), spleen (RPKM 57.2) and 24 other tissues See more Orthologs mouse all
FBLN7, Official Symbol FBLN7provided by HGNC Official Full Name fibulin 7provided by HGNC Primary source HGNC:HGNC:26740 See related Ensembl:ENSG00000144152 MIM:611551; AllianceGenome:HGNC:26740 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 TM14 Summary Predicted to enable calcium ion binding activity; heparan sulfate proteoglycan binding activity; and heparin binding activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within positive regulation of biomineralization. Located in focal adhesion. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 2.4), lymph node (RPKM 1.6) and 23 other tissues See more Orthologs mouse all
FBN1, Official Symbol FBN1provided by HGNC Official Full Name fibrillin 1provided by HGNC Primary source HGNC:HGNC:3603 See related Ensembl:ENSG00000166147 MIM:134797; AllianceGenome:HGNC:3603 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 FBN; SGS; WMS; MASS; MFLS; MFS1; OCTD; SSKS; WMS2; ACMICD; ECTOL1; GPHYSD2 Summary This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016] Expression Broad expression in placenta (RPKM 47.2), fat (RPKM 27.5) and 20 other tissues See more Orthologs mouse all
FBN2, Official Symbol FBN2provided by HGNC Official Full Name fibrillin 2provided by HGNC Primary source HGNC:HGNC:3604 See related Ensembl:ENSG00000138829 MIM:612570; AllianceGenome:HGNC:3604 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 CCA; DA9; EOMD Summary The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 46.2), testis (RPKM 4.0) and 1 other tissue See more Orthologs mouse all
FBN3, Official Symbol FBN3provided by HGNC Official Full Name fibrillin 3provided by HGNC Primary source HGNC:HGNC:18794 See related Ensembl:ENSG00000142449 MIM:608529; AllianceGenome:HGNC:18794 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016] Expression Low expression observed in reference dataset See more Orthologs all
FBP1, Official Symbol FBP1provided by HGNC Official Full Name fructose-bisphosphatase 1provided by HGNC Primary source HGNC:HGNC:3606 See related Ensembl:ENSG00000165140 MIM:611570; AllianceGenome:HGNC:3606 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 FBP Summary Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 175.9), kidney (RPKM 118.4) and 9 other tissues See more Orthologs mouse all
FBP2, Official Symbol FBP2provided by HGNC Official Full Name fructose-bisphosphatase 2provided by HGNC Primary source HGNC:HGNC:3607 See related Ensembl:ENSG00000130957 MIM:603027; AllianceGenome:HGNC:3607 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 CORLK Summary This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 15.5), esophagus (RPKM 4.0) and 3 other tissues See more Orthologs mouse all
FBRS, Official Symbol FBRSprovided by HGNC Official Full Name fibrosinprovided by HGNC Primary source HGNC:HGNC:20442 See related Ensembl:ENSG00000156860 MIM:608601; AllianceGenome:HGNC:20442 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 FBS; FBS1 Summary Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008] Expression Broad expression in testis (RPKM 34.3), bone marrow (RPKM 18.4) and 24 other tissues See more Orthologs mouse all
FBRSL1, Official Symbol FBRSL1provided by HGNC Official Full Name fibrosin like 1provided by HGNC Primary source HGNC:HGNC:29308 See related Ensembl:ENSG00000112787 MIM:620123; AllianceGenome:HGNC:29308 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Ubiquitous expression in spleen (RPKM 3.9), testis (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
FBXL12, Official Symbol FBXL12provided by HGNC Official Full Name F-box and leucine rich repeat protein 12provided by HGNC Primary source HGNC:HGNC:13611 See related Ensembl:ENSG00000127452 MIM:609079; AllianceGenome:HGNC:13611 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 Fbl12 Summary Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in placenta (RPKM 6.0), bone marrow (RPKM 5.9) and 25 other tissues See more Orthologs mouse all
FBXL12P1, Official Symbol FBXL12P1provided by HGNC Official Full Name FBXL12 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54776 See related AllianceGenome:HGNC:54776 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
FBXL13, Official Symbol FBXL13provided by HGNC Official Full Name F-box and leucine rich repeat protein 13provided by HGNC Primary source HGNC:HGNC:21658 See related Ensembl:ENSG00000161040 MIM:609080; AllianceGenome:HGNC:21658 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 DRC6; Fbl13; CFAP169 Summary Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 4.2), stomach (RPKM 0.9) and 7 other tissues See more Orthologs mouse all
FBXL14, Official Symbol FBXL14provided by HGNC Official Full Name F-box and leucine rich repeat protein 14provided by HGNC Primary source HGNC:HGNC:28624 See related Ensembl:ENSG00000171823 MIM:609081; AllianceGenome:HGNC:28624 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 Fbl14 Summary Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 7.1), colon (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
FBXL15, Official Symbol FBXL15provided by HGNC Official Full Name F-box and leucine rich repeat protein 15provided by HGNC Primary source HGNC:HGNC:28155 See related Ensembl:ENSG00000107872 MIM:610287; AllianceGenome:HGNC:28155 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 JET; PSD; Fbl15; FBXO37 Summary Involved in G2/M transition of mitotic cell cycle; cellular protein metabolic process; and positive regulation of BMP signaling pathway. Located in cytoplasm. Part of SCF ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 4.8), colon (RPKM 3.6) and 24 other tissues See more Orthologs mouse all
FBXL16, Official Symbol FBXL16provided by HGNC Official Full Name F-box and leucine rich repeat protein 16provided by HGNC Primary source HGNC:HGNC:14150 See related Ensembl:ENSG00000127585 MIM:609082; AllianceGenome:HGNC:14150 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 Fbl16; C16orf22; c380A1.1 Summary Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Expression Biased expression in brain (RPKM 76.4), testis (RPKM 4.8) and 1 other tissue See more Orthologs mouse all
FBXL17, Official Symbol FBXL17provided by HGNC Official Full Name F-box and leucine rich repeat protein 17provided by HGNC Primary source HGNC:HGNC:13615 See related Ensembl:ENSG00000145743 MIM:609083; AllianceGenome:HGNC:13615 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 Fbl17; Fbx13; FBXO13 Summary Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in thyroid (RPKM 4.5), brain (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
FBXL18, Official Symbol FBXL18provided by HGNC Official Full Name F-box and leucine rich repeat protein 18provided by HGNC Primary source HGNC:HGNC:21874 See related Ensembl:ENSG00000155034 MIM:609084; AllianceGenome:HGNC:21874 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 Fbl18 Summary The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in brain (RPKM 2.3), fat (RPKM 1.2) and 24 other tissues See more Orthologs mouse all
FBXL19, Official Symbol FBXL19provided by HGNC Official Full Name F-box and leucine rich repeat protein 19provided by HGNC Primary source HGNC:HGNC:25300 See related Ensembl:ENSG00000099364 MIM:609085; AllianceGenome:HGNC:25300 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 Fbl19; CXXC11; JHDM1C Summary This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Broad expression in testis (RPKM 9.4), brain (RPKM 5.2) and 23 other tissues See more Orthologs mouse all
FBXL19-AS1, Official Symbol FBXL19-AS1provided by HGNC Official Full Name FBXL19 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27557 See related Ensembl:ENSG00000260852 AllianceGenome:HGNC:27557 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 NCRNA00095
FBXL2, Official Symbol FBXL2provided by HGNC Official Full Name F-box and leucine rich repeat protein 2provided by HGNC Primary source HGNC:HGNC:13598 See related Ensembl:ENSG00000153558 MIM:605652; AllianceGenome:HGNC:13598 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 FBL2; FBL3 Summary This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] Expression Broad expression in brain (RPKM 5.0), testis (RPKM 4.2) and 22 other tissues See more Orthologs mouse all
FBXL20, Official Symbol FBXL20provided by HGNC Official Full Name F-box and leucine rich repeat protein 20provided by HGNC Primary source HGNC:HGNC:24679 See related Ensembl:ENSG00000108306 MIM:609086; AllianceGenome:HGNC:24679 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 Fbl2; Fbl20 Summary Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in testis (RPKM 3.5), brain (RPKM 3.2) and 25 other tissues See more Orthologs mouse all
FBXL22, Official Symbol FBXL22provided by HGNC Official Full Name F-box and leucine rich repeat protein 22provided by HGNC Primary source HGNC:HGNC:27537 See related Ensembl:ENSG00000197361 MIM:609088; AllianceGenome:HGNC:27537 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 Fbl22 Summary This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010] Expression Broad expression in endometrium (RPKM 6.9), prostate (RPKM 3.6) and 21 other tissues See more Orthologs mouse all
FBXL3, Official Symbol FBXL3provided by HGNC Official Full Name F-box and leucine rich repeat protein 3provided by HGNC Primary source HGNC:HGNC:13599 See related Ensembl:ENSG00000005812 MIM:605653; AllianceGenome:HGNC:13599 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 FBL3; FBL3A; FBXL3A; IDDSFAS Summary This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 28.0), fat (RPKM 26.4) and 25 other tissues See more Orthologs mouse all
FBXL4, Official Symbol FBXL4provided by HGNC Official Full Name F-box and leucine rich repeat protein 4provided by HGNC Primary source HGNC:HGNC:13601 See related Ensembl:ENSG00000112234 MIM:605654; AllianceGenome:HGNC:13601 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 FBL4; FBL5; MTDPS13 Summary This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in thyroid (RPKM 4.4), kidney (RPKM 3.2) and 25 other tissues See more Orthologs mouse all
FBXL5, Official Symbol FBXL5provided by HGNC Official Full Name F-box and leucine rich repeat protein 5provided by HGNC Primary source HGNC:HGNC:13602 See related Ensembl:ENSG00000118564 MIM:605655; AllianceGenome:HGNC:13602 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 FBL4; FBL5; FLR1 Summary This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in kidney (RPKM 49.5), fat (RPKM 39.0) and 25 other tissues See more Orthologs mouse all
FBXL6, Official Symbol FBXL6provided by HGNC Official Full Name F-box and leucine rich repeat protein 6provided by HGNC Primary source HGNC:HGNC:13603 See related Ensembl:ENSG00000182325 MIM:609076; AllianceGenome:HGNC:13603 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 FBL6; FBL6A; PP14630 Summary This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in duodenum (RPKM 10.9), small intestine (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
FBXL7, Official Symbol FBXL7provided by HGNC Official Full Name F-box and leucine rich repeat protein 7provided by HGNC Primary source HGNC:HGNC:13604 See related Ensembl:ENSG00000183580 MIM:605656; AllianceGenome:HGNC:13604 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 FBL6; FBL7 Summary This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] Expression Ubiquitous expression in endometrium (RPKM 6.3), adrenal (RPKM 5.3) and 22 other tissues See more Orthologs mouse all
FBXL8, Official Symbol FBXL8provided by HGNC Official Full Name F-box and leucine rich repeat protein 8provided by HGNC Primary source HGNC:HGNC:17875 See related Ensembl:ENSG00000135722 MIM:609077; AllianceGenome:HGNC:17875 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 FBL8 Summary This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008] Expression Broad expression in prostate (RPKM 6.2), stomach (RPKM 5.0) and 18 other tissues See more Orthologs mouse all
FBXO10, Official Symbol FBXO10provided by HGNC Official Full Name F-box protein 10provided by HGNC Primary source HGNC:HGNC:13589 See related Ensembl:ENSG00000147912 MIM:609092; AllianceGenome:HGNC:13589 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 FBX10; PRMT11 Summary Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Expression Broad expression in testis (RPKM 5.1), thyroid (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
FBXO11, Official Symbol FBXO11provided by HGNC Official Full Name F-box protein 11provided by HGNC Primary source HGNC:HGNC:13590 See related Ensembl:ENSG00000138081 MIM:607871; AllianceGenome:HGNC:13590 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 UBR6; VIT1; FBX11; PRMT9; IDDFBA; UG063H01 Summary This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in testis (RPKM 26.4), brain (RPKM 21.6) and 25 other tissues See more Orthologs mouse all
FBXO15, Official Symbol FBXO15provided by HGNC Official Full Name F-box protein 15provided by HGNC Primary source HGNC:HGNC:13617 See related Ensembl:ENSG00000141665 MIM:609093; AllianceGenome:HGNC:13617 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 FBX15 Summary Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 2.7), kidney (RPKM 0.4) and 3 other tissues See more Orthologs mouse all