Details for: NMNAT1
Associated with
Other Information
Genular Protein ID: 2389003350
Symbol: NMNA1_HUMAN
Name: Nicotinamide-nucleotide adenylyltransferase 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11248244
Title: Characterization of recombinant human nicotinamide mononucleotide adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD synthesis.
PubMed ID: 11248244
PubMed ID: 11027696
Title: Molecular cloning, chromosomal localization, tissue mRNA levels, bacterial expression, and enzymatic properties of human NMN adenylyltransferase.
PubMed ID: 11027696
PubMed ID: 11891043
Title: Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouse.
PubMed ID: 11891043
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 12574164
Title: Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.
PubMed ID: 12574164
PubMed ID: 16118205
Title: Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.
PubMed ID: 16118205
PubMed ID: 17402747
Title: Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis.
PubMed ID: 17402747
DOI: 10.1021/bi6023379
PubMed ID: 19413330
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
PubMed ID: 19413330
DOI: 10.1021/ac9004309
PubMed ID: 22842230
Title: Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
PubMed ID: 22842230
DOI: 10.1038/ng.2356
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 27257257
Title: ADP-ribose-derived nuclear ATP synthesis by NUDIX5 is required for chromatin remodeling.
PubMed ID: 27257257
PubMed ID: 11959140
Title: Crystal structure of human nicotinamide mononucleotide adenylyltransferase in complex with NMN.
PubMed ID: 11959140
PubMed ID: 11751893
Title: Structure of human NMN adenylyltransferase. A key nuclear enzyme for NAD homeostasis.
PubMed ID: 11751893
PubMed ID: 11788603
Title: Structure of human nicotinamide/nicotinic acid mononucleotide adenylyltransferase. Basis for the dual substrate specificity and activation of the oncolytic agent tiazofurin.
PubMed ID: 11788603
PubMed ID: 32533184
Title: An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
PubMed ID: 32533184
DOI: 10.1093/hmg/ddaa112
PubMed ID: 22842231
Title: Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
PubMed ID: 22842231
DOI: 10.1038/ng.2370
PubMed ID: 22842229
Title: Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
PubMed ID: 22842229
DOI: 10.1038/ng.2357
PubMed ID: 22842227
Sequence Information:
- Length: 279
- Mass: 31932
- Checksum: 740DE872CD9C22E7
- Sequence:
MENSEKTEVV LLACGSFNPI TNMHLRLFEL AKDYMNGTGR YTVVKGIISP VGDAYKKKGL IPAYHRVIMA ELATKNSKWV EVDTWESLQK EWKETLKVLR HHQEKLEASD CDHQQNSPTL ERPGRKRKWT ETQDSSQKKS LEPKTKAVPK VKLLCGADLL ESFAVPNLWK SEDITQIVAN YGLICVTRAG NDAQKFIYES DVLWKHRSNI HVVNEWIAND ISSTKIRRAL RRGQSIRYLV PDLVQEYIEK HNLYSSESED RNAGVILAPL QRNTAEAKT
Genular Protein ID: 2161299972
Symbol: B1AN62_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 19413330
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
PubMed ID: 19413330
DOI: 10.1021/ac9004309
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
Sequence Information:
- Length: 160
- Mass: 18311
- Checksum: 1BB249CAE9CD5335
- Sequence:
MENSEKTEVV LLACGSFNPI TNMHLRLFEL AKDYMNGTGR YTVVKGIISP VGDAYKKKGL IPAYHRVIMA ELATKNSKWV EVDTWESLQK EWKETLKVLR HHQEKLEASD CDHQQNSPTL ERPGRKRKWT ETQDSSQKKS LEPKTKDGVS LYHPGWSAVA
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.