Details for: NADSYN1

Gene ID: 55191

Symbol: NADSYN1

Ensembl ID: ENSG00000172890

Description: NAD synthetase 1

Associated with

Other Information

Genular Protein ID: 1345302222

Symbol: NADE_HUMAN

Name: Glutamine-dependent NAD(+) synthetase

UniProtKB Accession Codes:

Q6IA69 B3KUU4 Q86SN2 Q9HA25 Q9NVM8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 10 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 10 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 7 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 2 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12547821

Title: Molecular identification of human glutamine- and ammonia-dependent NAD synthetases. Carbon-nitrogen hydrolase domain confers glutamine dependency.

PubMed ID: 12547821

DOI: 10.1074/jbc.m209203200

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 31883644

Title: Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders.

PubMed ID: 31883644

DOI: 10.1016/j.ajhg.2019.12.006

Sequence Information:

  • Length: 706
  • Mass: 79285
  • Checksum: 9788B060F3A1D13B
  • Sequence:
    • MGRKVTVATC ALNQWALDFE GNLQRILKSI EIAKNRGARY RLGPELEICG YGCWDHYYES 
DTLLHSFQVL AALVESPVTQ DIICDVGMPV MHRNVRYNCR VIFLNRKILL IRPKMALANE 
GNYRELRWFT PWSRSRHTEE YFLPRMIQDL TKQETVPFGD AVLVTWDTCI GSEICEELWT 
PHSPHIDMGL DGVEIITNAS GSHQVLRKAN TRVDLVTMVT SKNGGIYLLA NQKGCDGDRL 
YYDGCAMIAM NGSVFAQGSQ FSLDDVEVLT ATLDLEDVRS YRAEISSRNL AASRASPYPR 
VKVDFALSCH EDLLAPISEP IEWKYHSPEE EISLGPACWL WDFLRRSQQA GFLLPLSGGV 
DSAATACLIY SMCCQVCEAV RSGNEEVLAD VRTIVNQISY TPQDPRDLCG RILTTCYMAS 
KNSSQETCTR ARELAQQIGS HHISLNIDPA VKAVMGIFSL VTGKSPLFAA HGGSSRENLA 
LQNVQARIRM VLAYLFAQLS LWSRGVHGGL LVLGSANVDE SLLGYLTKYD CSSADINPIG 
GISKTDLRAF VQFCIQRFQL PALQSILLAP ATAELEPLAD GQVSQTDEED MGMTYAELSV 
YGKLRKVAKM GPYSMFCKLL GMWRHICTPR QVADKVKRFF SKYSMNRHKM TTLTPAYHAE 
NYSPEDNRFD LRPFLYNTSW PWQFRCIENQ VLQLERAEPQ SLDGVD

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.