psui3905/ncbi_genes_summary huggingface dataset:
NSUN2, Official Symbol NSUN2provided by HGNC Official Full Name NOP2/Sun RNA methyltransferase 2provided by HGNC Primary source HGNC:HGNC:25994 See related Ensembl:ENSG00000037474 MIM:610916; AllianceGenome:HGNC:25994 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 MISU; MRT5; SAKI; TRM4 Summary This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011] Expression Ubiquitous expression in lymph node (RPKM 14.3), appendix (RPKM 14.2) and 25 other tissues See more Orthologs mouse all
NSUN3, Official Symbol NSUN3provided by HGNC Official Full Name NOP2/Sun RNA methyltransferase 3provided by HGNC Primary source HGNC:HGNC:26208 See related Ensembl:ENSG00000178694 MIM:617491; AllianceGenome:HGNC:26208 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 MST077; COXPD48; MSTP077 Summary Enables tRNA (cytosine-5-)-methyltransferase activity. Involved in regulation of mitochondrial translation and tRNA wobble base cytosine methylation. Located in mitochondrial matrix. Implicated in combined oxidative phosphorylation deficiency 48. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
NSUN4, Official Symbol NSUN4provided by HGNC Official Full Name NOP2/Sun RNA methyltransferase 4provided by HGNC Primary source HGNC:HGNC:31802 See related Ensembl:ENSG00000117481 MIM:615394; AllianceGenome:HGNC:31802 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 SHTAP Summary Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in rRNA methylation. Part of mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 13.3), thyroid (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
NSUN5, Official Symbol NSUN5provided by HGNC Official Full Name NOP2/Sun RNA methyltransferase 5provided by HGNC Primary source HGNC:HGNC:16385 See related Ensembl:ENSG00000130305 MIM:615732; AllianceGenome:HGNC:16385 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 NOL1; p120; NOL1R; NSUN5A; WBSCR20; WBSCR20A; p120(NOL1) Summary This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in bone marrow (RPKM 17.7), lymph node (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
NSUN5P1, Official Symbol NSUN5P1provided by HGNC Official Full Name NSUN5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:19146 See related Ensembl:ENSG00000291151 AllianceGenome:HGNC:19146 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 NSUN5B; WBSCR20B Summary This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in duodenum (RPKM 21.4), lymph node (RPKM 19.5) and 25 other tissues See more
NSUN6, Official Symbol NSUN6provided by HGNC Official Full Name NOP2/Sun RNA methyltransferase 6provided by HGNC Primary source HGNC:HGNC:23529 See related Ensembl:ENSG00000241058 MIM:617199; AllianceGenome:HGNC:23529 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 NOPD1; ARL5B-AS1; 4933414E04Rik Summary Enables tRNA (cytosine-5-)-methyltransferase activity and tRNA binding activity. Involved in tRNA C5-cytosine methylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 4.8), liver (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
NSUN7, Official Symbol NSUN7provided by HGNC Official Full Name NOP2/Sun RNA methyltransferase family member 7provided by HGNC Primary source HGNC:HGNC:25857 See related Ensembl:ENSG00000179299 MIM:617185; AllianceGenome:HGNC:25857 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable RNA binding activity and methyltransferase activity. Predicted to be involved in methylation. Predicted to act upstream of or within flagellated sperm motility and sperm mitochondrion organization. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 10.8), thyroid (RPKM 2.4) and 19 other tissues See more Orthologs mouse all
NT5C, Official Symbol NT5Cprovided by HGNC Official Full Name 5', 3'-nucleotidase, cytosolicprovided by HGNC Primary source HGNC:HGNC:17144 See related Ensembl:ENSG00000125458 MIM:191720; AllianceGenome:HGNC:17144 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 DNT; cdN; DNT1; P5N2; PN-I; HEL74; PN-II; UMPH2; dNT-1 Summary This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in colon (RPKM 12.8), spleen (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
NT5C1A, Official Symbol NT5C1Aprovided by HGNC Official Full Name 5'-nucleotidase, cytosolic IAprovided by HGNC Primary source HGNC:HGNC:17819 See related Ensembl:ENSG00000116981 MIM:610525; AllianceGenome:HGNC:17819 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 CN1; CNI; CN-I; CN1A; CN-IA Summary Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008] Expression Biased expression in heart (RPKM 3.5), brain (RPKM 1.5) and 5 other tissues See more Orthologs mouse all
NT5C1B, Official Symbol NT5C1Bprovided by HGNC Official Full Name 5'-nucleotidase, cytosolic IBprovided by HGNC Primary source HGNC:HGNC:17818 See related Ensembl:ENSG00000185013 MIM:610526; AllianceGenome:HGNC:17818 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 AIRP; CN1B; CN-IB Summary Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008] Expression Restricted expression toward testis (RPKM 23.0) See more Orthologs mouse all
NT5C1B-RDH14, Official Symbol NT5C1B-RDH14provided by HGNC Official Full Name NT5C1B-RDH14 readthroughprovided by HGNC Primary source HGNC:HGNC:38831 See related Ensembl:ENSG00000250741 AllianceGenome:HGNC:38831 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 AIRP; cN1B; cN-IB; NT5C1B Summary This locus represents naturally occurring read-through transcription between the neighboring NT5C1B (5'-nucleotidase, cytosolic IB) and RDH14 (retinol dehydrogenase 14) genes on chromosome 2. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] Expression Broad expression in testis (RPKM 22.8), heart (RPKM 7.0) and 24 other tissues See more Orthologs all
NT5C2, Official Symbol NT5C2provided by HGNC Official Full Name 5'-nucleotidase, cytosolic IIprovided by HGNC Primary source HGNC:HGNC:8022 See related Ensembl:ENSG00000076685 MIM:600417; AllianceGenome:HGNC:8022 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 GMP; NT5B; PNT5; SPG45; SPG65; cN-II Summary This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in thyroid (RPKM 20.3), esophagus (RPKM 12.5) and 25 other tissues See more Orthologs mouse all
NT5C3A, Official Symbol NT5C3Aprovided by HGNC Official Full Name 5'-nucleotidase, cytosolic IIIAprovided by HGNC Primary source HGNC:HGNC:17820 See related Ensembl:ENSG00000122643 MIM:606224; AllianceGenome:HGNC:17820 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 p36; PN-I; POMP; PSN1; UMPH; NT5C3; P5N-1; UMPH1; hUMP1; P5'N-1; cN-III Summary This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in colon (RPKM 15.3), duodenum (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
NT5C3AP1, Official Symbol NT5C3AP1provided by HGNC Official Full Name NT5C3A pseudogene 1provided by HGNC Primary source HGNC:HGNC:18530 See related Ensembl:ENSG00000213492 AllianceGenome:HGNC:18530 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 UMPH1P; NT5C3P1
NT5C3B, Official Symbol NT5C3Bprovided by HGNC Official Full Name 5'-nucleotidase, cytosolic IIIBprovided by HGNC Primary source HGNC:HGNC:28300 See related Ensembl:ENSG00000141698 MIM:620041; AllianceGenome:HGNC:28300 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 CNIIIL; NT5C3L; cN-IIIB Summary Predicted to enable 5'-nucleotidase activity. Predicted to be involved in exonucleolytic catabolism of deadenylated mRNA. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 21.3), thyroid (RPKM 20.8) and 25 other tissues See more Orthologs mouse all
NT5DC1, Official Symbol NT5DC1provided by HGNC Official Full Name 5'-nucleotidase domain containing 1provided by HGNC Primary source HGNC:HGNC:21556 See related Ensembl:ENSG00000178425 AllianceGenome:HGNC:21556 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 LP2642; NT5C2L1; C6orf200 Summary While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010] Expression Ubiquitous expression in thyroid (RPKM 16.7), prostate (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
NT5DC1P1, Official Symbol NT5DC1P1provided by HGNC Official Full Name NT5DC1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55018 See related Ensembl:ENSG00000237381 AllianceGenome:HGNC:55018 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NT5DC1P2, Official Symbol NT5DC1P2provided by HGNC Official Full Name NT5DC1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:55019 See related Ensembl:ENSG00000214961 AllianceGenome:HGNC:55019 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NT5DC2, Official Symbol NT5DC2provided by HGNC Official Full Name 5'-nucleotidase domain containing 2provided by HGNC Primary source HGNC:HGNC:25717 See related Ensembl:ENSG00000168268 AllianceGenome:HGNC:25717 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 5'-nucleotidase activity. Predicted to be involved in dephosphorylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 25.8), ovary (RPKM 16.7) and 23 other tissues See more Orthologs mouse all
NT5DC3, Official Symbol NT5DC3provided by HGNC Official Full Name 5'-nucleotidase domain containing 3provided by HGNC Primary source HGNC:HGNC:30826 See related Ensembl:ENSG00000111696 MIM:611076; AllianceGenome:HGNC:30826 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 TU12B1TY; TU12B1-TY Summary Predicted to enable 5'-nucleotidase activity. Predicted to be involved in dephosphorylation. Part of receptor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 4.0), brain (RPKM 3.1) and 24 other tissues See more Orthologs mouse all
NT5DC4, Official Symbol NT5DC4provided by HGNC Official Full Name 5'-nucleotidase domain containing 4provided by HGNC Primary source HGNC:HGNC:27678 See related Ensembl:ENSG00000144130 AllianceGenome:HGNC:27678 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 5'-nucleotidase activity. Predicted to be involved in dephosphorylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.0), lymph node (RPKM 0.3) and 3 other tissues See more Orthologs all
NT5E, Official Symbol NT5Eprovided by HGNC Official Full Name 5'-nucleotidase ectoprovided by HGNC Primary source HGNC:HGNC:8021 See related Ensembl:ENSG00000135318 MIM:129190; AllianceGenome:HGNC:8021 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 NT; eN; NT5; NTE; eNT; CD73; E5NT; CALJA Summary The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] Expression Ubiquitous expression in endometrium (RPKM 30.0), ovary (RPKM 19.6) and 22 other tissues See more Orthologs mouse all
NT5M, Official Symbol NT5Mprovided by HGNC Official Full Name 5',3'-nucleotidase, mitochondrialprovided by HGNC Primary source HGNC:HGNC:15769 See related Ensembl:ENSG00000205309 MIM:605292; AllianceGenome:HGNC:15769 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 mdN; dNT2; dNT-2 Summary This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 2.8), bone marrow (RPKM 2.2) and 23 other tissues See more Orthologs mouse all
NTAN1, Official Symbol NTAN1provided by HGNC Official Full Name N-terminal asparagine amidaseprovided by HGNC Primary source HGNC:HGNC:29909 See related Ensembl:ENSG00000157045 MIM:615367; AllianceGenome:HGNC:29909 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 PNAA; PNAD Summary The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on proteins to produce N-terminal L-Asp. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in fat (RPKM 16.9), urinary bladder (RPKM 16.3) and 25 other tissues See more Orthologs mouse all
NTAN1P1, Official Symbol NTAN1P1provided by HGNC Official Full Name N-terminal asparagine amidase pseudogene 1provided by HGNC Primary source HGNC:HGNC:45261 See related Ensembl:ENSG00000270965 AllianceGenome:HGNC:45261 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NTAN1P2, Official Symbol NTAN1P2provided by HGNC Official Full Name N-terminal asparagine amidase pseudogene 2provided by HGNC Primary source HGNC:HGNC:45262 See related Ensembl:ENSG00000250569 AllianceGenome:HGNC:45262 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NTAN1P3, Official Symbol NTAN1P3provided by HGNC Official Full Name N-terminal asparagine amidase pseudogene 3provided by HGNC Primary source HGNC:HGNC:45263 See related Ensembl:ENSG00000256355 AllianceGenome:HGNC:45263 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NTAQ1, Official Symbol NTAQ1provided by HGNC Official Full Name N-terminal glutamine amidase 1provided by HGNC Primary source HGNC:HGNC:25490 See related Ensembl:ENSG00000156795 AllianceGenome:HGNC:25490 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 WDYHV1; C8orf32 Summary Predicted to enable protein-N-terminal glutamine amidohydrolase activity. Predicted to be involved in cellular protein modification process. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 1.6), ovary (RPKM 1.2) and 25 other tissues See more Orthologs mouse all
NTF3, Official Symbol NTF3provided by HGNC Official Full Name neurotrophin 3provided by HGNC Primary source HGNC:HGNC:8023 See related Ensembl:ENSG00000185652 MIM:162660; AllianceGenome:HGNC:8023 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 NT3; HDNF; NGF2; NT-3; NGF-2 Summary The protein encoded by this gene is a member of the neurotrophin family, that controls survival and differentiation of mammalian neurons. This protein is closely related to both nerve growth factor and brain-derived neurotrophic factor. It may be involved in the maintenance of the adult nervous system, and may affect development of neurons in the embryo when it is expressed in human placenta. NTF3-deficient mice generated by gene targeting display severe movement defects of the limbs. The mature peptide of this protein is identical in all mammals examined including human, pig, rat and mouse. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 4.8), spleen (RPKM 2.1) and 19 other tissues See more Orthologs mouse all
NTF4, Official Symbol NTF4provided by HGNC Official Full Name neurotrophin 4provided by HGNC Primary source HGNC:HGNC:8024 See related Ensembl:ENSG00000225950 MIM:162662; AllianceGenome:HGNC:8024 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 NT4; NT5; NT-4; NT-5; NTF5; GLC10; GLC1O; NT-4/5 Summary This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. The expression of this gene is ubiquitous and less influenced by environmental signals. While knock-outs of other neurotrophins including nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3 prove lethal during early postnatal development, NTF5-deficient mice only show minor cellular deficits and develop normally to adulthood. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 4.5), prostate (RPKM 2.1) and 6 other tissues See more Orthologs mouse all
NTHL1, Official Symbol NTHL1provided by HGNC Official Full Name nth like DNA glycosylase 1provided by HGNC Primary source HGNC:HGNC:8028 See related Ensembl:ENSG00000065057 MIM:602656; AllianceGenome:HGNC:8028 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 FAP3; NTH1; OCTS3; hNTH1 Summary The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in spleen (RPKM 7.3), ovary (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
NTM, Official Symbol NTMprovided by HGNC Official Full Name neurotriminprovided by HGNC Primary source HGNC:HGNC:17941 See related Ensembl:ENSG00000182667 MIM:607938; AllianceGenome:HGNC:17941 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 HNT; NTRI; CEPU-1; IGLON2 Summary This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] Expression Biased expression in brain (RPKM 12.0), lung (RPKM 3.5) and 5 other tissues See more Orthologs mouse all
NTM-AS1, Official Symbol NTM-AS1provided by HGNC Official Full Name NTM antisense RNA 1provided by HGNC Primary source HGNC:HGNC:32293 See related AllianceGenome:HGNC:32293 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 C11orf39 Expression Restricted expression toward brain (RPKM 3.1) See more
NTMT1, Official Symbol NTMT1provided by HGNC Official Full Name N-terminal Xaa-Pro-Lys N-methyltransferase 1provided by HGNC Primary source HGNC:HGNC:23373 See related Ensembl:ENSG00000148335 MIM:613560; AllianceGenome:HGNC:23373 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 NRMT; NRMT1; NTM1A; AD-003; HOMT1A; C9orf32; METTL11A Summary The METTL11A gene encodes an N-terminal methyltransferase for the RAN (MIM 601179) guanine nucleotide exchange factor regulator of chromosome condensation 1 (RCC1; MIM 179710). METTL11A enzyme alpha-N-methylates other protein targets such as SET (MIM 600960) and RB (MIM 180200).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in testis (RPKM 16.4), adrenal (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
NTN1, Official Symbol NTN1provided by HGNC Official Full Name netrin 1provided by HGNC Primary source HGNC:HGNC:8029 See related Ensembl:ENSG00000065320 MIM:601614; AllianceGenome:HGNC:8029 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 NET1; MRMV4; NTN1L Summary Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008] Expression Broad expression in heart (RPKM 20.8), esophagus (RPKM 16.8) and 17 other tissues See more Orthologs mouse all
NTN3, Official Symbol NTN3provided by HGNC Official Full Name netrin 3provided by HGNC Primary source HGNC:HGNC:8030 See related Ensembl:ENSG00000162068 MIM:602349; AllianceGenome:HGNC:8030 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 NTN2L Summary Predicted to enable signaling receptor binding activity. Predicted to be involved in animal organ morphogenesis; neuron projection development; and tissue development. Predicted to be located in Golgi apparatus and extracellular region. Predicted to be active in basement membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
NTN4, Official Symbol NTN4provided by HGNC Official Full Name netrin 4provided by HGNC Primary source HGNC:HGNC:13658 See related Ensembl:ENSG00000074527 MIM:610401; AllianceGenome:HGNC:13658 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 PRO3091 Summary This gene encodes a member of the netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Expression Broad expression in spleen (RPKM 88.7), kidney (RPKM 62.7) and 20 other tissues See more Orthologs mouse all
NTN5, Official Symbol NTN5provided by HGNC Official Full Name netrin 5provided by HGNC Primary source HGNC:HGNC:25208 See related Ensembl:ENSG00000142233 AllianceGenome:HGNC:25208 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 signaling receptor binding activity. Predicted to be involved in animal organ morphogenesis; neuron projection development; and tissue development. Predicted to be located in extracellular region. Predicted to be active in basement membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
NTNG1, Official Symbol NTNG1provided by HGNC Official Full Name netrin G1provided by HGNC Primary source HGNC:HGNC:23319 See related Ensembl:ENSG00000162631 MIM:608818; AllianceGenome:HGNC:23319 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 Lmnt1; NetG1; NetrinG1 Summary This gene encodes a preproprotein that is processed into a secreted protein containing eukaroytic growth factor (EGF)-like domains. This protein acts to guide axon growth during neuronal development. Polymorphisms in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2015] Expression Broad expression in brain (RPKM 1.0), kidney (RPKM 0.9) and 14 other tissues See more Orthologs mouse all
NTNG2, Official Symbol NTNG2provided by HGNC Official Full Name netrin G2provided by HGNC Primary source HGNC:HGNC:14288 See related Ensembl:ENSG00000196358 MIM:618689; AllianceGenome:HGNC:14288 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 Lmnt2; NTNG1; NEDBASH; LHLL9381; NetrinG2; bA479K20.1 Summary Predicted to be involved in several processes, including basement membrane assembly; cell morphogenesis involved in differentiation; and regulation of cell projection organization. Located in Flemming body; intercellular bridge; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 7.5), brain (RPKM 4.1) and 4 other tissues See more Orthologs mouse all
NTPCR, Official Symbol NTPCRprovided by HGNC Official Full Name nucleoside-triphosphatase, cancer-relatedprovided by HGNC Primary source HGNC:HGNC:28204 See related Ensembl:ENSG00000135778 AllianceGenome:HGNC:28204 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 THEP1; C1orf57; HCR-NTPase Summary The protein encoded by this gene is a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in brain (RPKM 18.5), kidney (RPKM 18.3) and 25 other tissues See more Orthologs mouse all
NTRK1, Official Symbol NTRK1provided by HGNC Official Full Name neurotrophic receptor tyrosine kinase 1provided by HGNC Primary source HGNC:HGNC:8031 See related Ensembl:ENSG00000198400 MIM:191315; AllianceGenome:HGNC:8031 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 MTC; TRK; TRK1; TRKA; Trk-A; p140-TrkA Summary This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 3.7), testis (RPKM 1.0) and 10 other tissues See more Orthologs mouse all
NTRK2, Official Symbol NTRK2provided by HGNC Official Full Name neurotrophic receptor tyrosine kinase 2provided by HGNC Primary source HGNC:HGNC:8032 See related Ensembl:ENSG00000148053 MIM:600456; AllianceGenome:HGNC:8032 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 OBHD; TRKB; DEE58; trk-B; EIEE58; GP145-TrkB Summary This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Expression Biased expression in brain (RPKM 64.6), thyroid (RPKM 30.4) and 3 other tissues See more Orthologs mouse all
NTRK3, Official Symbol NTRK3provided by HGNC Official Full Name neurotrophic receptor tyrosine kinase 3provided by HGNC Primary source HGNC:HGNC:8033 See related Ensembl:ENSG00000140538 MIM:191316; AllianceGenome:HGNC:8033 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 TRKC; GP145-TrkC; gp145(trkC) Summary This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] Expression Biased expression in brain (RPKM 2.8), fat (RPKM 1.2) and 13 other tissues See more Orthologs mouse all
NTRK3-AS1, Official Symbol NTRK3-AS1provided by HGNC Official Full Name NTRK3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27532 See related Ensembl:ENSG00000260305 AllianceGenome:HGNC:27532 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 2.5) See more
NTS, Official Symbol NTSprovided by HGNC Official Full Name neurotensinprovided by HGNC Primary source HGNC:HGNC:8038 See related Ensembl:ENSG00000133636 MIM:162650; AllianceGenome:HGNC:8038 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 NN; NT; NT/N; NTS1; NMN-125 Summary This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Neurotensin also exhibits antimicrobial activity against bacteria and fungi. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq, Oct 2014] Expression Biased expression in small intestine (RPKM 86.5), stomach (RPKM 27.6) and 1 other tissue See more Orthologs mouse all
NTSR1, Official Symbol NTSR1provided by HGNC Official Full Name neurotensin receptor 1provided by HGNC Primary source HGNC:HGNC:8039 See related Ensembl:ENSG00000101188 MIM:162651; AllianceGenome:HGNC:8039 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 NTR Summary Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
NTSR2, Official Symbol NTSR2provided by HGNC Official Full Name neurotensin receptor 2provided by HGNC Primary source HGNC:HGNC:8040 See related Ensembl:ENSG00000169006 MIM:605538; AllianceGenome:HGNC:8040 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 NTR2 Summary The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. Binding and pharmacological studies demonstrate that this receptor binds neurotensin as well as several other ligands already described for neurotensin NT1 receptor. However, unlike NT1 receptor, this gene recognizes, with high affinity, levocabastine, a histamine H1 receptor antagonist previously shown to compete with neurotensin for low-affinity binding sites in brain. These activities suggest that this receptor may be of physiological importance and that a natural agonist for the receptor may exist. [provided by RefSeq, Jul 2008] Expression Restricted expression toward brain (RPKM 9.3) See more Orthologs mouse all
NUAK1, Official Symbol NUAK1provided by HGNC Official Full Name NUAK family kinase 1provided by HGNC Primary source HGNC:HGNC:14311 See related Ensembl:ENSG00000074590 MIM:608130; AllianceGenome:HGNC:14311 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 ARK5 Summary Enables p53 binding activity and protein serine/threonine kinase activity. Involved in several processes, including protein phosphorylation; regulation of cellular senescence; and regulation of myosin-light-chain-phosphatase activity. Located in cytoplasm; microtubule cytoskeleton; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 19.6), skin (RPKM 9.2) and 19 other tissues See more Orthologs mouse all
NUAK2, Official Symbol NUAK2provided by HGNC Official Full Name NUAK family kinase 2provided by HGNC Primary source HGNC:HGNC:29558 See related Ensembl:ENSG00000163545 MIM:608131; AllianceGenome:HGNC:29558 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 ANPH2; SNARK Summary Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in several processes, including cellular response to glucose starvation; negative regulation of apoptotic process; and protein phosphorylation. Predicted to be active in cytoplasm. Implicated in anencephaly. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in esophagus (RPKM 10.7), kidney (RPKM 9.5) and 22 other tissues See more Orthologs mouse all
NUB1, Official Symbol NUB1provided by HGNC Official Full Name negative regulator of ubiquitin like proteins 1provided by HGNC Primary source HGNC:HGNC:17623 See related Ensembl:ENSG00000013374 MIM:607981; AllianceGenome:HGNC:17623 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 BS4; NUB1L; NYREN18 Summary This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in lymph node (RPKM 24.3), testis (RPKM 24.2) and 25 other tissues See more Orthologs mouse all
NUBP1, Official Symbol NUBP1provided by HGNC Official Full Name NUBP iron-sulfur cluster assembly factor 1, cytosolicprovided by HGNC Primary source HGNC:HGNC:8041 See related Ensembl:ENSG00000103274 MIM:600280; AllianceGenome:HGNC:8041 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 NBP; NBP1; CIAO5; NBP35 Summary NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in adrenal (RPKM 9.0), heart (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
NUBP2, Official Symbol NUBP2provided by HGNC Official Full Name NUBP iron-sulfur cluster assembly factor 2, cytosolicprovided by HGNC Primary source HGNC:HGNC:8042 See related Ensembl:ENSG00000095906 MIM:610779; AllianceGenome:HGNC:8042 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 CFD1; CIAO6; NBP 2; NUBP1 Summary This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013] Expression Ubiquitous expression in fat (RPKM 8.3), prostate (RPKM 7.4) and 25 other tissues See more Orthologs mouse all