psui3905/ncbi_genes_summary huggingface dataset:
NAE1, Official Symbol NAE1provided by HGNC Official Full Name NEDD8 activating enzyme E1 subunit 1provided by HGNC Primary source HGNC:HGNC:621 See related Ensembl:ENSG00000159593 MIM:603385; AllianceGenome:HGNC:621 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 HPP1; ula-1; APPBP1; NEDFIH; A-116A10.1 Summary The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 28.1), thyroid (RPKM 17.4) and 25 other tissues See more Orthologs mouse all
NAF1, Official Symbol NAF1provided by HGNC Official Full Name nuclear assembly factor 1 ribonucleoproteinprovided by HGNC Primary source HGNC:HGNC:25126 See related Ensembl:ENSG00000145414 MIM:617868; AllianceGenome:HGNC:25126 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 PFBMFT7 Summary Enables identical protein binding activity and telomerase RNA binding activity. Involved in regulation of nucleobase-containing compound metabolic process; ribosome biogenesis; and telomerase holoenzyme complex assembly. Located in nucleoplasm. Part of sno(s)RNA-containing ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 1.9), endometrium (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
NAGA, Official Symbol NAGAprovided by HGNC Official Full Name alpha-N-acetylgalactosaminidaseprovided by HGNC Primary source HGNC:HGNC:7631 See related Ensembl:ENSG00000198951 MIM:104170; AllianceGenome:HGNC:7631 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 GALB; D22S674 Summary NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 20.0), appendix (RPKM 15.7) and 25 other tissues See more Orthologs mouse all
NAGK, Official Symbol NAGKprovided by HGNC Official Full Name N-acetylglucosamine kinaseprovided by HGNC Primary source HGNC:HGNC:17174 See related Ensembl:ENSG00000124357 MIM:606828; AllianceGenome:HGNC:17174 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 GNK; HSA242910 Summary This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in spleen (RPKM 27.6), esophagus (RPKM 26.3) and 25 other tissues See more Orthologs mouse all
NAGLU, Official Symbol NAGLUprovided by HGNC Official Full Name N-acetyl-alpha-glucosaminidaseprovided by HGNC Primary source HGNC:HGNC:7632 See related Ensembl:ENSG00000108784 MIM:609701; AllianceGenome:HGNC:7632 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 NAG; CMT2V; MPS3B; UFHSD; MPS-IIIB Summary This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 14.8), fat (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
NAGPA, Official Symbol NAGPAprovided by HGNC Official Full Name N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidaseprovided by HGNC Primary source HGNC:HGNC:17378 See related Ensembl:ENSG00000103174 MIM:607985; AllianceGenome:HGNC:17378 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 UCE; APAA Summary Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in spleen (RPKM 5.3), stomach (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
NAGS, Official Symbol NAGSprovided by HGNC Official Full Name N-acetylglutamate synthaseprovided by HGNC Primary source HGNC:HGNC:17996 See related Ensembl:ENSG00000161653 MIM:608300; AllianceGenome:HGNC:17996 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 AGAS; ARGA Summary The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008] Expression Biased expression in duodenum (RPKM 7.8), small intestine (RPKM 6.4) and 8 other tissues See more Orthologs mouse all
NAIF1, Official Symbol NAIF1provided by HGNC Official Full Name nuclear apoptosis inducing factor 1provided by HGNC Primary source HGNC:HGNC:25446 See related Ensembl:ENSG00000171169 MIM:610673; AllianceGenome:HGNC:25446 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 C9orf90; bA379C10.2 Summary Involved in negative regulation of cell growth and regulation of mitochondrial membrane permeability involved in apoptotic process. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.6), spleen (RPKM 2.1) and 25 other tissues See more Orthologs mouse all
NAIP, Official Symbol NAIPprovided by HGNC Official Full Name NLR family apoptosis inhibitory proteinprovided by HGNC Primary source HGNC:HGNC:7634 See related Ensembl:ENSG00000249437 MIM:600355; AllianceGenome:HGNC:7634 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 BIRC1; NLRB1; psiNAIP Summary This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016] Expression Broad expression in appendix (RPKM 20.5), spleen (RPKM 11.7) and 23 other tissues See more Orthologs all
NAIPP1, Official Symbol NAIPP1provided by HGNC Official Full Name NAIP pseudogene 1provided by HGNC Primary source HGNC:HGNC:54492 See related Ensembl:ENSG00000250687 AllianceGenome:HGNC:54492 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NAIPP3, Official Symbol NAIPP3provided by HGNC Official Full Name NAIP pseudogene 3provided by HGNC Primary source HGNC:HGNC:54493 See related Ensembl:ENSG00000248477 AllianceGenome:HGNC:54493 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NALCN, Official Symbol NALCNprovided by HGNC Official Full Name sodium leak channel, non-selectiveprovided by HGNC Primary source HGNC:HGNC:19082 See related Ensembl:ENSG00000102452 MIM:611549; AllianceGenome:HGNC:19082 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 IHPRF; INNFD; CanIon; IHPRF1; VGCNL1; CLIFAHDD; bA430M15.1 Summary This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017] Expression Biased expression in brain (RPKM 11.1), adrenal (RPKM 2.5) and 5 other tissues See more Orthologs mouse all
NALCN-AS1, Official Symbol NALCN-AS1provided by HGNC Official Full Name NALCN antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42743 See related Ensembl:ENSG00000233009 AllianceGenome:HGNC:42743 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in brain (RPKM 3.9), thyroid (RPKM 0.6) and 8 other tissues See more
NAMA, Official Symbol NAMAprovided by HGNC Official Full Name non-protein coding RNA, associated with MAP kinase pathway and growth arrestprovided by HGNC Primary source HGNC:HGNC:42408 See related Ensembl:ENSG00000271086 MIM:620412; AllianceGenome:HGNC:42408 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
NAMPT, Official Symbol NAMPTprovided by HGNC Official Full Name nicotinamide phosphoribosyltransferaseprovided by HGNC Primary source HGNC:HGNC:30092 See related Ensembl:ENSG00000105835 MIM:608764; AllianceGenome:HGNC:30092 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 VF; PBEF; PBEF1; VISFATIN; 1110035O14Rik Summary This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. [provided by RefSeq, Feb 2011] Expression Broad expression in appendix (RPKM 222.0), bone marrow (RPKM 154.0) and 20 other tissues See more Orthologs mouse all
NAMPTP1, Official Symbol NAMPTP1provided by HGNC Official Full Name nicotinamide phosphoribosyltransferase pseudogene 1provided by HGNC Primary source HGNC:HGNC:17633 See related Ensembl:ENSG00000229644 AllianceGenome:HGNC:17633 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 PBEF2; NAMPTL; bA92J19.4
NAMPTP2, Official Symbol NAMPTP2provided by HGNC Official Full Name nicotinamide phosphoribosyltransferase pseudogene 2provided by HGNC Primary source HGNC:HGNC:51314 See related Ensembl:ENSG00000249229 AllianceGenome:HGNC:51314 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NAMPTP3, Official Symbol NAMPTP3provided by HGNC Official Full Name nicotinamide phosphoribosyltransferase pseudogene 3provided by HGNC Primary source HGNC:HGNC:51313 See related Ensembl:ENSG00000261053 AllianceGenome:HGNC:51313 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NANOG, Official Symbol NANOGprovided by HGNC Official Full Name Nanog homeoboxprovided by HGNC Primary source HGNC:HGNC:20857 See related Ensembl:ENSG00000111704 MIM:607937; AllianceGenome:HGNC:20857 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 The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
NANOGNB, Official Symbol NANOGNBprovided by HGNC Official Full Name NANOG neighbor homeoboxprovided by HGNC Primary source HGNC:HGNC:24958 See related Ensembl:ENSG00000205857 AllianceGenome:HGNC:24958 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 DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
NANOGNBP2, Official Symbol NANOGNBP2provided by HGNC Official Full Name NANOGNB pseudogene 2provided by HGNC Primary source HGNC:HGNC:42159 See related Ensembl:ENSG00000256563 AllianceGenome:HGNC:42159 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NANOGP2, Official Symbol NANOGP2provided by HGNC Official Full Name Nanog homeobox pseudogene 2provided by HGNC Primary source HGNC:HGNC:23100 See related AllianceGenome:HGNC:23100 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 NANOGP4
NANOGP3, Official Symbol NANOGP3provided by HGNC Official Full Name Nanog homeobox pseudogene 3provided by HGNC Primary source HGNC:HGNC:23101 See related Ensembl:ENSG00000271373 AllianceGenome:HGNC:23101 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NANOGP4, Official Symbol NANOGP4provided by HGNC Official Full Name Nanog homeobox pseudogene 4provided by HGNC Primary source HGNC:HGNC:23102 See related AllianceGenome:HGNC:23102 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 NANOGP2
NANOGP5, Official Symbol NANOGP5provided by HGNC Official Full Name Nanog homeobox pseudogene 5provided by HGNC Primary source HGNC:HGNC:23103 See related AllianceGenome:HGNC:23103 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NANOGP6, Official Symbol NANOGP6provided by HGNC Official Full Name Nanog homeobox pseudogene 6provided by HGNC Primary source HGNC:HGNC:23104 See related Ensembl:ENSG00000227351 AllianceGenome:HGNC:23104 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NANOGP8, Official Symbol NANOGP8provided by HGNC Official Full Name Nanog homeobox retrogene P8provided by HGNC Primary source HGNC:HGNC:23106 See related Ensembl:ENSG00000255192 AllianceGenome:HGNC:23106 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 PN8; NANOGP1 Summary This gene represents a transcribed retrogene of the Nanog homeobox gene. The putative encoded protein may participate in reprogramming of cancer cells. In vitro studies using a recombinant protein have shown that the protein localizes to the nucleus and can promote cell proliferation, similar to the Nanog protein. [provided by RefSeq, Sep 2017]
NANOS1, Official Symbol NANOS1provided by HGNC Official Full Name nanos C2HC-type zinc finger 1provided by HGNC Primary source HGNC:HGNC:23044 See related Ensembl:ENSG00000188613 MIM:608226; AllianceGenome:HGNC:23044 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 NOS1; NOS-1; SPGF12; EC_Rep1a; ZC2HC12A Summary This gene encodes a CCHC-type zinc finger protein that is a member of the nanos family. This protein co-localizes with the RNA-binding protein pumilio RNA-binding family member 2 and may be involved in regulating translation as a post-transcriptional repressor. Mutations in this gene are associated with spermatogenic impairment. [provided by RefSeq, Sep 2015] Orthologs mouse all
NANOS2, Official Symbol NANOS2provided by HGNC Official Full Name nanos C2HC-type zinc finger 2provided by HGNC Primary source HGNC:HGNC:23292 See related Ensembl:ENSG00000188425 MIM:608228; AllianceGenome:HGNC:23292 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 NOS2; ZC2HC12B Summary Predicted to enable mRNA binding activity. Involved in negative regulation of translation and positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. Located in nucleus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
NANOS3, Official Symbol NANOS3provided by HGNC Official Full Name nanos C2HC-type zinc finger 3provided by HGNC Primary source HGNC:HGNC:22048 See related Ensembl:ENSG00000187556 MIM:608229; AllianceGenome:HGNC:22048 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 NOS3; NANOS1L; ZC2HC12C Summary Predicted to enable mRNA binding activity. Involved in germ cell development; negative regulation of translation; and positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. Located in nucleus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.4), brain (RPKM 1.0) and 7 other tissues See more Orthologs mouse all
NANP, Official Symbol NANPprovided by HGNC Official Full Name N-acetylneuraminic acid phosphataseprovided by HGNC Primary source HGNC:HGNC:16140 See related Ensembl:ENSG00000170191 MIM:610763; AllianceGenome:HGNC:16140 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 HDHD4; C20orf147; dJ694B14.3 Summary Enables N-acylneuraminate-9-phosphatase activity. Involved in N-acetylneuraminate biosynthetic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 2.0), testis (RPKM 1.9) and 25 other tissues See more Orthologs mouse all
NANS, Official Symbol NANSprovided by HGNC Official Full Name N-acetylneuraminate synthaseprovided by HGNC Primary source HGNC:HGNC:19237 See related Ensembl:ENSG00000095380 MIM:605202; AllianceGenome:HGNC:19237 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 SAS; SEMDG; SEMDCG; HEL-S-100 Summary This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 65.2), prostate (RPKM 43.3) and 25 other tissues See more Orthologs mouse all
NAP1L1, Official Symbol NAP1L1provided by HGNC Official Full Name nucleosome assembly protein 1 like 1provided by HGNC Primary source HGNC:HGNC:7637 See related Ensembl:ENSG00000187109 MIM:164060; AllianceGenome:HGNC:7637 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 NRP; NAP1; NAP1L Summary This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015] Expression Ubiquitous expression in ovary (RPKM 100.8), lymph node (RPKM 74.3) and 25 other tissues See more Orthologs mouse all
NAP1L1P1, Official Symbol NAP1L1P1provided by HGNC Official Full Name nucleosome assembly protein 1 like 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:38004 See related Ensembl:ENSG00000254759 AllianceGenome:HGNC:38004 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NAP1L1P2, Official Symbol NAP1L1P2provided by HGNC Official Full Name nucleosome assembly protein 1 like 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38005 See related AllianceGenome:HGNC:38005 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NAP1L1P3, Official Symbol NAP1L1P3provided by HGNC Official Full Name nucleosome assembly protein 1 like 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:38007 See related Ensembl:ENSG00000213371 AllianceGenome:HGNC:38007 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NAP1L2, Official Symbol NAP1L2provided by HGNC Official Full Name nucleosome assembly protein 1 like 2provided by HGNC Primary source HGNC:HGNC:7638 See related Ensembl:ENSG00000186462 MIM:300026; AllianceGenome:HGNC:7638 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 BPX Summary The protein encoded by this intronless gene is a member of the nucleosome assembly protein (NAP) family. The encoded protein represents a class of tissue-specific factors that interact with chromatin to regulate neuronal cell proliferation. [provided by RefSeq, Jan 2011] Orthologs mouse all
NAP1L3, Official Symbol NAP1L3provided by HGNC Official Full Name nucleosome assembly protein 1 like 3provided by HGNC Primary source HGNC:HGNC:7639 See related Ensembl:ENSG00000186310 MIM:300117; AllianceGenome:HGNC:7639 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 MB20; NPL3 Summary This gene is intronless and encodes a member of the nucleosome assembly protein (NAP) family. This gene is linked closely to a region of genes responsible for several X-linked cognitive disability syndromes. [provided by RefSeq, Dec 2010] Orthologs mouse all
NAP1L4, Official Symbol NAP1L4provided by HGNC Official Full Name nucleosome assembly protein 1 like 4provided by HGNC Primary source HGNC:HGNC:7640 See related Ensembl:ENSG00000205531 MIM:601651; AllianceGenome:HGNC:7640 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 NAP2; NAP2L; hNAP2; NAP1L4b Summary This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 52.4), heart (RPKM 37.7) and 25 other tissues See more Orthologs mouse all
NAP1L4P3, Official Symbol NAP1L4P3provided by HGNC Official Full Name nucleosome assembly protein 1 like 4 pseudogene 3provided by HGNC Primary source HGNC:HGNC:39738 See related Ensembl:ENSG00000234145 AllianceGenome:HGNC:39738 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NAP1L5, Official Symbol NAP1L5provided by HGNC Official Full Name nucleosome assembly protein 1 like 5provided by HGNC Primary source HGNC:HGNC:19968 See related Ensembl:ENSG00000177432 MIM:612203; AllianceGenome:HGNC:19968 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 DRLM Summary This gene encodes a protein that shares sequence similarity to nucleosome assembly factors, but may be localized to the cytoplasm rather than the nucleus. Expression of this gene is downregulated in hepatocellular carcinomas. This gene is located within a differentially methylated region (DMR) and is imprinted and paternally expressed. There is a related pseudogene on chromosome 4. [provided by RefSeq, Nov 2015] Orthologs mouse all
NAP1L6P, Official Symbol NAP1L6Pprovided by HGNC Official Full Name nucleosome assembly protein 1 like 6, pseudogeneprovided by HGNC Primary source HGNC:HGNC:31706 See related Ensembl:ENSG00000204118 AllianceGenome:HGNC:31706 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NAP1L6; lncNAP1L6 Summary Predicted to be involved in nucleosome assembly. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
NAPA, Official Symbol NAPAprovided by HGNC Official Full Name NSF attachment protein alphaprovided by HGNC Primary source HGNC:HGNC:7641 See related Ensembl:ENSG00000105402 MIM:603215; AllianceGenome:HGNC:7641 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 SNAPA Summary This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in prostate (RPKM 53.4), adrenal (RPKM 52.5) and 25 other tissues See more Orthologs mouse all
NAPA-AS1, Official Symbol NAPA-AS1provided by HGNC Official Full Name NAPA antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44118 See related AllianceGenome:HGNC:44118 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 esophagus (RPKM 8.0), thyroid (RPKM 7.3) and 25 other tissues See more
NAPB, Official Symbol NAPBprovided by HGNC Official Full Name NSF attachment protein betaprovided by HGNC Primary source HGNC:HGNC:15751 See related Ensembl:ENSG00000125814 MIM:611270; AllianceGenome:HGNC:15751 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 SNAPB; DEE107; SNAP-BETA Summary This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. This gene encodes the SNAP beta isoform which has been shown to be preferentially expressed in brain tissue. The encoded protein also interacts with the GluR2 &#945;-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptor subunit C-terminus and may play a role as a chaperone in the molecular processing of the AMPA receptor. [provided by RefSeq, Mar 2017] Expression Biased expression in brain (RPKM 118.1) and adrenal (RPKM 14.6) See more Orthologs mouse all
NAPEPLD, Official Symbol NAPEPLDprovided by HGNC Official Full Name N-acyl phosphatidylethanolamine phospholipase Dprovided by HGNC Primary source HGNC:HGNC:21683 See related Ensembl:ENSG00000161048 MIM:612334; AllianceGenome:HGNC:21683 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 FMP30; C7orf18; NAPE-PLD Summary NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM, Oct 2008] Expression Ubiquitous expression in brain (RPKM 8.2), kidney (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
NAPG, Official Symbol NAPGprovided by HGNC Official Full Name NSF attachment protein gammaprovided by HGNC Primary source HGNC:HGNC:7642 See related Ensembl:ENSG00000134265 MIM:603216; AllianceGenome:HGNC:7642 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 GAMMASNAP Summary This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008] Expression Ubiquitous expression in brain (RPKM 18.0), thyroid (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
NAPGP1, Official Symbol NAPGP1provided by HGNC Official Full Name N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 1provided by HGNC Primary source HGNC:HGNC:45165 See related Ensembl:ENSG00000271408 AllianceGenome:HGNC:45165 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NAPRT, Official Symbol NAPRTprovided by HGNC Official Full Name nicotinate phosphoribosyltransferaseprovided by HGNC Primary source HGNC:HGNC:30450 See related Ensembl:ENSG00000147813 MIM:611552; AllianceGenome:HGNC:30450 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 NAPRT1; PP3856 Summary Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in duodenum (RPKM 19.1), small intestine (RPKM 16.7) and 25 other tissues See more Orthologs mouse all
NAPSA, Official Symbol NAPSAprovided by HGNC Official Full Name napsin A aspartic peptidaseprovided by HGNC Primary source HGNC:HGNC:13395 See related Ensembl:ENSG00000131400 MIM:605631; AllianceGenome:HGNC:13395 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 KAP; Kdap; NAP1; NAPA; SNAPA Summary This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016] Expression Restricted expression toward lung (RPKM 393.9) See more Orthologs mouse all
NAPSB, Official Symbol NAPSBprovided by HGNC Official Full Name napsin B aspartic peptidase (pseudogene)provided by HGNC Primary source HGNC:HGNC:13396 See related Ensembl:ENSG00000291230 AllianceGenome:HGNC:13396 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NAP2; NAPB; NAP1L; NAPSBP Expression Biased expression in lymph node (RPKM 71.9), spleen (RPKM 45.6) and 9 other tissues See more
NARF, Official Symbol NARFprovided by HGNC Official Full Name nuclear prelamin A recognition factorprovided by HGNC Primary source HGNC:HGNC:29916 See related Ensembl:ENSG00000141562 MIM:605349; AllianceGenome:HGNC:29916 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 IOP2 Summary Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 13.2), testis (RPKM 12.0) and 25 other tissues See more Orthologs mouse all
NARF-AS2, Official Symbol NARF-AS2provided by HGNC Official Full Name NARF antisense RNA 2provided by HGNC Primary source HGNC:HGNC:55327 See related Ensembl:ENSG00000265458 AllianceGenome:HGNC:55327 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 testis (RPKM 1.6), lymph node (RPKM 1.5) and 25 other tissues See more
NARF-IT1, Official Symbol NARF-IT1provided by HGNC Official Full Name NARF intronic transcript 1provided by HGNC Primary source HGNC:HGNC:43651 See related AllianceGenome:HGNC:43651 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NARF-OT1 Annotation information not in current annotation release
NARS1, Official Symbol NARS1provided by HGNC Official Full Name asparaginyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:7643 See related Ensembl:ENSG00000134440 MIM:108410; AllianceGenome:HGNC:7643 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 NARS; ASNRS; NEDMILG; NEDMILEG Summary Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 64.3), kidney (RPKM 57.0) and 25 other tissues See more Orthologs mouse all
NARS1P2, Official Symbol NARS1P2provided by HGNC Official Full Name asparaginyl-tRNA synthetase 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:50481 See related Ensembl:ENSG00000253789 AllianceGenome:HGNC:50481 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 NARSP2
NARS2, Official Symbol NARS2provided by HGNC Official Full Name asparaginyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:26274 See related Ensembl:ENSG00000137513 MIM:612803; AllianceGenome:HGNC:26274 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 SLM5; asnRS; DFNB94 Summary This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015] Expression Ubiquitous expression in kidney (RPKM 4.7), thyroid (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
NASP, Official Symbol NASPprovided by HGNC Official Full Name nuclear autoantigenic sperm proteinprovided by HGNC Primary source HGNC:HGNC:7644 See related Ensembl:ENSG00000132780 MIM:603185; AllianceGenome:HGNC:7644 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 HMDRA1; FLB7527; PRO1999 Summary This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 44.0), bone marrow (RPKM 30.2) and 24 other tissues See more Orthologs mouse all
NASPP1, Official Symbol NASPP1provided by HGNC Official Full Name nuclear autoantigenic sperm protein pseudogene 1provided by HGNC Primary source HGNC:HGNC:29910 See related AllianceGenome:HGNC:29910 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo