NMNAT2

NMNAT2
Identifiers
Aliases	NMNAT2, C1orf15, PNAT2, nicotinamide nucleotide adenylyltransferase 2
External IDs	MGI: 2444155 HomoloGene: 75037 GeneCards: NMNAT2
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	183,418,602 bp[1]
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)[2]
End	153,119,261 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• transferase activity; • nucleotide binding; • nucleotidyltransferase activity; • catalytic activity; • nicotinamide-nucleotide adenylyltransferase activity; • ATP binding; • nicotinate-nucleotide adenylyltransferase activity;
Cellular component	• cytoplasm; • Golgi membrane; • late endosome; • Golgi apparatus; • trans-Golgi network; • synapse; • membrane; • axon; • cytoplasmic vesicle membrane; • cytoplasmic vesicle; • cell projection;
Biological process	• pyridine nucleotide biosynthetic process; • NAD metabolic process; • biosynthetic process; • NAD biosynthetic process; • 'de novo' NAD biosynthetic process from aspartate;
	Sources:Amigo / QuickGO
Orthologs
	23057
	226518
	ENSG00000157064
	ENSMUSG00000042751
	Q9BZQ4
	Q8BNJ3
	NM_170706; NM_015039
	NM_175460
	NP_055854; NP_733820
	NP_780669
	Wikidata
View/Edit Human	View/Edit Mouse

Nicotinamide mononucleotide adenylyltransferase 2 is an enzyme that in humans is encoded by the NMNAT2 gene.^[5]^[6]^[7]

This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in the nicotinamide adenine dinucleotide (NAD (NADP)) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene.^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000157064 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042751 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, Graham C, Baxevanis AD, Klinger KW, Landes GM, Trent JM, Carpten JD (Apr 2001). "Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus". Genomics. 73 (2): 211–22. doi:10.1006/geno.2001.6500. PMID 11318611.
↑ Raffaelli N, Sorci L, Amici A, Emanuelli M, Mazzola F, Magni G (Oct 2002). "Identification of a novel human nicotinamide mononucleotide adenylyltransferase". Biochem Biophys Res Commun. 297 (4): 835–40. doi:10.1016/S0006-291X(02)02285-4. PMID 12359228.
1 2 "Entrez Gene: NMNAT2 nicotinamide nucleotide adenylyltransferase 2".

Seki N, Ohira M, Nagase T, et al. (1998). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Res. 4 (5): 345–9. doi:10.1093/dnares/4.5.345. PMID 9455484.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Yalowitz JA, Xiao S, Biju MP, et al. (2004). "Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas". Biochem. J. 377 (Pt 2): 317–26. doi:10.1042/BJ20030518. PMC 1223862. PMID 14516279.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Berger F, Lau C, Dahlmann M, Ziegler M (2006). "Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms". J. Biol. Chem. 280 (43): 36334–41. doi:10.1074/jbc.M508660200. PMID 16118205.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
Sorci L, Cimadamore F, Scotti S, et al. (2007). "Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis". Biochemistry. 46 (16): 4912–22. doi:10.1021/bi6023379. PMID 17402747.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000157064 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042751 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[pmid11318611-5] Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, Graham C, Baxevanis AD, Klinger KW, Landes GM, Trent JM, Carpten JD (Apr 2001). "Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus". Genomics. 73 (2): 211–22. doi:10.1006/geno.2001.6500. PMID 11318611.

[pmid12359228-6] Raffaelli N, Sorci L, Amici A, Emanuelli M, Mazzola F, Magni G (Oct 2002). "Identification of a novel human nicotinamide mononucleotide adenylyltransferase". Biochem Biophys Res Commun. 297 (4): 835–40. doi:10.1016/S0006-291X(02)02285-4. PMID 12359228.

[entrez-7] 1 2 "Entrez Gene: NMNAT2 nicotinamide nucleotide adenylyltransferase 2".

NMNAT2

References

Further reading