psui3905/ncbi_genes_summary huggingface dataset:
NRG1, Official Symbol NRG1provided by HGNC Official Full Name neuregulin 1provided by HGNC Primary source HGNC:HGNC:7997 See related Ensembl:ENSG00000157168 MIM:142445; AllianceGenome:HGNC:7997 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 GGF; HGL; HRG; NDF; ARIA; GGF2; HRG1; HRGA; SMDF; MST131; MSTP131; NRG1-IT2 Summary The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016] Expression Broad expression in thyroid (RPKM 1.5), urinary bladder (RPKM 1.0) and 19 other tissues See more Orthologs mouse all
NRG1-IT1, Official Symbol NRG1-IT1provided by HGNC Official Full Name NRG1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:43633 See related Ensembl:ENSG00000253974 AllianceGenome:HGNC:43633 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 Restricted expression toward testis (RPKM 6.0) See more
NRG1-IT3, Official Symbol NRG1-IT3provided by HGNC Official Full Name NRG1 intronic transcript 3provided by HGNC Primary source HGNC:HGNC:43635 See related Ensembl:ENSG00000254049 AllianceGenome:HGNC:43635 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
NRG2, Official Symbol NRG2provided by HGNC Official Full Name neuregulin 2provided by HGNC Primary source HGNC:HGNC:7998 See related Ensembl:ENSG00000158458 MIM:603818; AllianceGenome:HGNC:7998 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 DON1; HRG2; NTAK Summary This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010] Expression Broad expression in ovary (RPKM 1.6), fat (RPKM 0.8) and 16 other tissues See more Orthologs mouse all
NRG3, Official Symbol NRG3provided by HGNC Official Full Name neuregulin 3provided by HGNC Primary source HGNC:HGNC:7999 See related Ensembl:ENSG00000185737 MIM:605533; AllianceGenome:HGNC:7999 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 HRG3; pro-NRG3 Summary This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009] Expression Biased expression in brain (RPKM 3.4), gall bladder (RPKM 0.5) and 1 other tissue See more Orthologs mouse all
NRG3-AS1, Official Symbol NRG3-AS1provided by HGNC Official Full Name NRG3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:31429 See related Ensembl:ENSG00000225738 AllianceGenome:HGNC:31429 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 C10orf100; Em:AC010157.1 Expression Restricted expression toward testis (RPKM 1.9) See more
NRG4, Official Symbol NRG4provided by HGNC Official Full Name neuregulin 4provided by HGNC Primary source HGNC:HGNC:29862 See related Ensembl:ENSG00000169752 MIM:610894; AllianceGenome:HGNC:29862 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 HRG4 Summary The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in prostate (RPKM 2.0), skin (RPKM 1.9) and 25 other tissues See more Orthologs mouse all
NRGN, Official Symbol NRGNprovided by HGNC Official Full Name neurograninprovided by HGNC Primary source HGNC:HGNC:8000 See related Ensembl:ENSG00000154146 MIM:602350; AllianceGenome:HGNC:8000 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 RC3; hng Summary Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 309.5) and lung (RPKM 24.9) See more Orthologs mouse all
NRIP1, Official Symbol NRIP1provided by HGNC Official Full Name nuclear receptor interacting protein 1provided by HGNC Primary source HGNC:HGNC:8001 See related Ensembl:ENSG00000180530 MIM:602490; AllianceGenome:HGNC:8001 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 CAKUT3; RIP140 Summary Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 19.2), endometrium (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
NRIP2, Official Symbol NRIP2provided by HGNC Official Full Name nuclear receptor interacting protein 2provided by HGNC Primary source HGNC:HGNC:23078 See related Ensembl:ENSG00000053702 AllianceGenome:HGNC:23078 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 aspartic-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within Notch signaling pathway and negative regulation of transcription by RNA polymerase II. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 4.3), ovary (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
NRIP3, Official Symbol NRIP3provided by HGNC Official Full Name nuclear receptor interacting protein 3provided by HGNC Primary source HGNC:HGNC:1167 See related Ensembl:ENSG00000175352 MIM:613125; AllianceGenome:HGNC:1167 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 C11orf14; NY-SAR-105 Summary Predicted to enable aspartic-type endopeptidase activity. Predicted to be involved in proteolysis. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 15.1), brain (RPKM 14.4) and 4 other tissues See more Orthologs mouse all
NRIR, Official Symbol NRIRprovided by HGNC Official Full Name negative regulator of interferon responseprovided by HGNC Primary source HGNC:HGNC:51269 See related MIM:620418; AllianceGenome:HGNC:51269 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 lncCMPK2; lncRNA-CMPK2 Summary This gene is thought to produce a functional long non-coding RNA. This transcript may be a negative regulator of interferon response. [provided by RefSeq, Feb 2015] Expression Broad expression in bone marrow (RPKM 2.1), spleen (RPKM 1.3) and 15 other tissues See more
NRK, Official Symbol NRKprovided by HGNC Official Full Name Nik related kinaseprovided by HGNC Primary source HGNC:HGNC:25391 See related Ensembl:ENSG00000123572 MIM:300791; AllianceGenome:HGNC:25391 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 NESK Summary The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010] Expression Biased expression in ovary (RPKM 15.5), placenta (RPKM 15.0) and 8 other tissues See more Orthologs mouse all
NRL, Official Symbol NRLprovided by HGNC Official Full Name neural retina leucine zipperprovided by HGNC Primary source HGNC:HGNC:8002 See related Ensembl:ENSG00000129535 MIM:162080; AllianceGenome:HGNC:8002 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 RP27; D14S46E; NRL-MAF Summary This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 1.2), small intestine (RPKM 1.0) and 25 other tissues See more Orthologs mouse all
NRM, Official Symbol NRMprovided by HGNC Official Full Name nurimprovided by HGNC Primary source HGNC:HGNC:8003 See related Ensembl:ENSG00000137404 MIM:620017; AllianceGenome:HGNC:8003 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 NRM29 Summary The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in skin (RPKM 5.3), bone marrow (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
NRN1, Official Symbol NRN1provided by HGNC Official Full Name neuritin 1provided by HGNC Primary source HGNC:HGNC:17972 See related Ensembl:ENSG00000124785 MIM:607409; AllianceGenome:HGNC:17972 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 NRN; dJ380B8.2 Summary This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Broad expression in brain (RPKM 29.3), fat (RPKM 22.7) and 14 other tissues See more Orthologs mouse all
NRN1L, Official Symbol NRN1Lprovided by HGNC Official Full Name neuritin 1 likeprovided by HGNC Primary source HGNC:HGNC:29811 See related Ensembl:ENSG00000188038 AllianceGenome:HGNC:29811 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 UNQ2446; cpg15-2; MRCC2446 Summary The protein encoded by this gene is extracellular and enhances both neurite growth and neuronal survival. The encoded protein is found both as a GPI anchored membrane-bound form and as a secreted form. This activity-related ligand functions as a homodimer or heterodimer. [provided by RefSeq, Feb 2017] Expression Low expression observed in reference dataset See more Orthologs mouse all
NRON, Official Symbol NRONprovided by HGNC Official Full Name non-coding repressor of NFATprovided by HGNC Primary source HGNC:HGNC:37079 See related MIM:609618; AllianceGenome:HGNC:37079 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 NCRNA00194 Summary Predicted to act upstream of or within negative regulation of dephosphorylation; regulation of calcineurin-NFAT signaling cascade; and regulation of cytokine production. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
NRP1, Official Symbol NRP1provided by HGNC Official Full Name neuropilin 1provided by HGNC Primary source HGNC:HGNC:8004 See related Ensembl:ENSG00000099250 MIM:602069; AllianceGenome:HGNC:8004 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 NP1; NRP; BDCA4; CD304; VEGF165R Summary This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. This protein has also been determined to act as a co-receptor for SARS-CoV-2 (which causes COVID-19) to infect host cells. [provided by RefSeq, Nov 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Broad expression in placenta (RPKM 53.3), fat (RPKM 49.6) and 24 other tissues See more Orthologs mouse all
NRP2, Official Symbol NRP2provided by HGNC Official Full Name neuropilin 2provided by HGNC Primary source HGNC:HGNC:8005 See related Ensembl:ENSG00000118257 MIM:602070; AllianceGenome:HGNC:8005 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 NP2; NPN2; PRO2714; VEGF165R2 Summary This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. This protein has also been determined to act as a co-receptor for SARS-CoV-2 (which causes COVID-19) to infect host cells. [provided by RefSeq, Jul 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Broad expression in placenta (RPKM 10.6), ovary (RPKM 9.8) and 20 other tissues See more Orthologs mouse all
NRROS, Official Symbol NRROSprovided by HGNC Official Full Name negative regulator of reactive oxygen speciesprovided by HGNC Primary source HGNC:HGNC:24613 See related Ensembl:ENSG00000174004 MIM:615322; AllianceGenome:HGNC:24613 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 GARPL1; LRRC33; SENEBAC; UNQ3030; ELLP3030 Summary Enables transforming growth factor beta binding activity. Predicted to be involved in several processes, including microglia development; sequestering of TGFbeta in extracellular matrix; and transforming growth factor beta1 activation. Located in cell surface. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 13.1), spleen (RPKM 8.2) and 22 other tissues See more Orthologs mouse all
NRSN1, Official Symbol NRSN1provided by HGNC Official Full Name neurensin 1provided by HGNC Primary source HGNC:HGNC:17881 See related Ensembl:ENSG00000152954 MIM:616630; AllianceGenome:HGNC:17881 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 VMP; p24 Summary Predicted to be involved in nervous system development. Predicted to be located in cytoplasmic vesicle and growth cone. Predicted to be active in neuron projection; neuronal cell body; and transport vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward brain (RPKM 31.6) See more Orthologs mouse all
NRSN2, Official Symbol NRSN2provided by HGNC Official Full Name neurensin 2provided by HGNC Primary source HGNC:HGNC:16229 See related Ensembl:ENSG00000125841 MIM:610666; AllianceGenome:HGNC:16229 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 C20orf98; dJ1103G7.6 Summary Predicted to be involved in nervous system development. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 20.9), adrenal (RPKM 7.5) and 22 other tissues See more Orthologs mouse all
NRSN2-AS1, Official Symbol NRSN2-AS1provided by HGNC Official Full Name NRSN2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51222 See related Ensembl:ENSG00000225377 AllianceGenome:HGNC:51222 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 heart (RPKM 3.4), thyroid (RPKM 3.3) and 25 other tissues See more
NRTN, Official Symbol NRTNprovided by HGNC Official Full Name neurturinprovided by HGNC Primary source HGNC:HGNC:8007 See related Ensembl:ENSG00000171119 MIM:602018; AllianceGenome:HGNC:8007 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 NTN Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Aug 2016] Expression Broad expression in kidney (RPKM 1.6), heart (RPKM 1.4) and 18 other tissues See more Orthologs mouse all
NRXN1, Official Symbol NRXN1provided by HGNC Official Full Name neurexin 1provided by HGNC Primary source HGNC:HGNC:8008 See related Ensembl:ENSG00000179915 MIM:600565; AllianceGenome:HGNC:8008 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 PTHSL2; SCZD17; Hs.22998 Summary This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016] Expression Biased expression in brain (RPKM 12.7) and testis (RPKM 0.6) See more Orthologs mouse all
NRXN2, Official Symbol NRXN2provided by HGNC Official Full Name neurexin 2provided by HGNC Primary source HGNC:HGNC:8009 See related Ensembl:ENSG00000110076 MIM:600566; AllianceGenome:HGNC:8009 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 member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010] Expression Biased expression in brain (RPKM 25.4), testis (RPKM 3.9) and 2 other tissues See more Orthologs mouse all
NRXN3, Official Symbol NRXN3provided by HGNC Official Full Name neurexin 3provided by HGNC Primary source HGNC:HGNC:8010 See related Ensembl:ENSG00000021645 MIM:600567; AllianceGenome:HGNC:8010 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 C14orf60 Summary This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012] Expression Biased expression in brain (RPKM 7.1), adrenal (RPKM 1.0) and 11 other tissues See more Orthologs mouse all
NSA2, Official Symbol NSA2provided by HGNC Official Full Name NSA2 ribosome biogenesis factorprovided by HGNC Primary source HGNC:HGNC:30728 See related Ensembl:ENSG00000164346 MIM:612497; AllianceGenome:HGNC:30728 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 HCLG1; TINP1; CDK105; HCL-G1; HUSSY29; HUSSY-29 Summary This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in ovary (RPKM 71.9), lymph node (RPKM 43.0) and 25 other tissues See more Orthologs mouse all
NSA2P4, Official Symbol NSA2P4provided by HGNC Official Full Name NSA2 pseudogene 4provided by HGNC Primary source HGNC:HGNC:54583 See related AllianceGenome:HGNC:54583 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NSA2P5, Official Symbol NSA2P5provided by HGNC Official Full Name NSA2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:54584 See related AllianceGenome:HGNC:54584 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NSA2P6, Official Symbol NSA2P6provided by HGNC Official Full Name NSA2 pseudogene 6provided by HGNC Primary source HGNC:HGNC:54587 See related AllianceGenome:HGNC:54587 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NSD1, Official Symbol NSD1provided by HGNC Official Full Name nuclear receptor binding SET domain protein 1provided by HGNC Primary source HGNC:HGNC:14234 See related Ensembl:ENSG00000165671 MIM:606681; AllianceGenome:HGNC:14234 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 STO; KMT3B; SOTOS; ARA267; SOTOS1 Summary This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018] Expression Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
NSD2, Official Symbol NSD2provided by HGNC Official Full Name nuclear receptor binding SET domain protein 2provided by HGNC Primary source HGNC:HGNC:12766 See related Ensembl:ENSG00000109685 MIM:602952; AllianceGenome:HGNC:12766 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 WHS; TRX5; KMT3F; KMT3G; MMSET; RAUST; WHSC1; REIIBP Summary This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 9.1), bone marrow (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
NSD3, Official Symbol NSD3provided by HGNC Official Full Name nuclear receptor binding SET domain protein 3provided by HGNC Primary source HGNC:HGNC:12767 See related Ensembl:ENSG00000147548 MIM:607083; AllianceGenome:HGNC:12767 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 KMT3F; KMT3G; WHISTLE; WHSC1L1; pp14328 Summary This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015] Expression Ubiquitous expression in ovary (RPKM 10.0), brain (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
NSDHL, Official Symbol NSDHLprovided by HGNC Official Full Name NAD(P) dependent steroid dehydrogenase-likeprovided by HGNC Primary source HGNC:HGNC:13398 See related Ensembl:ENSG00000147383 MIM:300275; AllianceGenome:HGNC:13398 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 H105E3; XAP104; SDR31E1 Summary The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 14.3), adrenal (RPKM 14.0) and 25 other tissues See more Orthologs mouse all
NSF, Official Symbol NSFprovided by HGNC Official Full Name N-ethylmaleimide sensitive factor, vesicle fusing ATPaseprovided by HGNC Primary source HGNC:HGNC:8016 See related Ensembl:ENSG00000073969 MIM:601633; AllianceGenome:HGNC:8016 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 SKD2; DEE96; SEC18 Summary Enables PDZ domain binding activity and ionotropic glutamate receptor binding activity. Involved in intracellular protein transport; positive regulation of protein catabolic process; and positive regulation of receptor recycling. Located in Golgi apparatus; cytosol; and plasma membrane. Implicated in developmental and epileptic encephalopathy. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 113.7), colon (RPKM 17.6) and 20 other tissues See more Orthologs mouse all
NSFL1C, Official Symbol NSFL1Cprovided by HGNC Official Full Name NSFL1 cofactorprovided by HGNC Primary source HGNC:HGNC:15912 See related Ensembl:ENSG00000088833 MIM:606610; AllianceGenome:HGNC:15912 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 P47; UBX1; UBXD10; UBXN2C; dJ776F14.1 Summary N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011] Expression Ubiquitous expression in adrenal (RPKM 11.4), brain (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
NSFP1, Official Symbol NSFP1provided by HGNC Official Full Name N-ethylmaleimide-sensitive factor pseudogene 1provided by HGNC Primary source HGNC:HGNC:31405 See related AllianceGenome:HGNC:31405 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NSFP Expression Broad expression in brain (RPKM 105.2), colon (RPKM 17.1) and 18 other tissues See more
NSG1, Official Symbol NSG1provided by HGNC Official Full Name neuronal vesicle trafficking associated 1provided by HGNC Primary source HGNC:HGNC:18790 See related Ensembl:ENSG00000168824 MIM:607645; AllianceGenome:HGNC:18790 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 P21; D4S234; NEEP21; D4S234E Summary Predicted to enable clathrin light chain binding activity. Involved in apoptotic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 37.1), prostate (RPKM 21.2) and 12 other tissues See more Orthologs mouse all
NSG2, Official Symbol NSG2provided by HGNC Official Full Name neuronal vesicle trafficking associated 2provided by HGNC Primary source HGNC:HGNC:24955 See related Ensembl:ENSG00000170091 MIM:616752; AllianceGenome:HGNC:24955 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 CALY3; HMP19 Summary Predicted to enable clathrin light chain binding activity. Predicted to be involved in clathrin coat assembly and endosomal transport. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 115.2) and adrenal (RPKM 19.2) See more Orthologs mouse all
NSL1, Official Symbol NSL1provided by HGNC Official Full Name NSL1 component of MIS12 kinetochore complexprovided by HGNC Primary source HGNC:HGNC:24548 See related Ensembl:ENSG00000117697 MIM:609174; AllianceGenome:HGNC:24548 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 DC8; MIS14; C1orf48 Summary This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in brain (RPKM 2.0), lymph node (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
NSMAF, Official Symbol NSMAFprovided by HGNC Official Full Name neutral sphingomyelinase activation associated factorprovided by HGNC Primary source HGNC:HGNC:8017 See related Ensembl:ENSG00000035681 MIM:603043; AllianceGenome:HGNC:8017 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 FAN; GRAMD5 Summary This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009] Expression Ubiquitous expression in lymph node (RPKM 12.0), appendix (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
NSMCE1, Official Symbol NSMCE1provided by HGNC Official Full Name NSE1 homolog, SMC5-SMC6 complex componentprovided by HGNC Primary source HGNC:HGNC:29897 See related Ensembl:ENSG00000169189 MIM:617263; AllianceGenome:HGNC:29897 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 NSE1 Summary Enables protein dimerization activity and ubiquitin protein ligase activity. Involved in positive regulation of response to DNA damage stimulus. Located in nucleoplasm. Part of Smc5-Smc6 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 20.3), prostate (RPKM 15.1) and 25 other tissues See more Orthologs mouse all
NSMCE1-DT, Official Symbol NSMCE1-DTprovided by HGNC Official Full Name NSMCE1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:51368 See related Ensembl:ENSG00000245888 AllianceGenome:HGNC:51368 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 Broad expression in testis (RPKM 1.5), prostate (RPKM 0.4) and 15 other tissues See more
NSMCE2, Official Symbol NSMCE2provided by HGNC Official Full Name NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligaseprovided by HGNC Primary source HGNC:HGNC:26513 See related Ensembl:ENSG00000156831 MIM:617246; AllianceGenome:HGNC:26513 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 NSE2; MMS21; ZMIZ7; C8orf36 Summary This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017] Expression Ubiquitous expression in bone marrow (RPKM 2.5), lymph node (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
NSMCE3, Official Symbol NSMCE3provided by HGNC Official Full Name NSE3 homolog, SMC5-SMC6 complex componentprovided by HGNC Primary source HGNC:HGNC:7677 See related Ensembl:ENSG00000185115 MIM:608243; AllianceGenome:HGNC:7677 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 HCA4; LICS; NSE3; NDNL2; MAGEG1; MAGEL3 Summary The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011] Orthologs mouse all
NSMCE4A, Official Symbol NSMCE4Aprovided by HGNC Official Full Name NSE4 homolog A, SMC5-SMC6 complex componentprovided by HGNC Primary source HGNC:HGNC:25935 See related Ensembl:ENSG00000107672 MIM:612987; AllianceGenome:HGNC:25935 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 NS4EA; NSE4A; C10orf86 Summary Involved in positive regulation of response to DNA damage stimulus. Located in nuclear body. Part of Smc5-Smc6 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 10.0), fat (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
NSMF, Official Symbol NSMFprovided by HGNC Official Full Name NMDA receptor synaptonuclear signaling and neuronal migration factorprovided by HGNC Primary source HGNC:HGNC:29843 See related Ensembl:ENSG00000165802 MIM:608137; AllianceGenome:HGNC:29843 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 HH9; NELF Summary The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Expression Broad expression in brain (RPKM 43.0), kidney (RPKM 13.5) and 23 other tissues See more Orthologs mouse all
NSRP1, Official Symbol NSRP1provided by HGNC Official Full Name nuclear speckle splicing regulatory protein 1provided by HGNC Primary source HGNC:HGNC:25305 See related Ensembl:ENSG00000126653 MIM:616173; AllianceGenome:HGNC:25305 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 CCDC55; NSrp70; HSPC095; NEDSSBA Summary Enables mRNA binding activity. Involved in developmental process and regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 8.3), thyroid (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
NSRP1P1, Official Symbol NSRP1P1provided by HGNC Official Full Name nuclear speckle splicing regulatory protein 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:38087 See related Ensembl:ENSG00000235613 AllianceGenome:HGNC:38087 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 CCDC55P1