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UniProtKB - Q6IA69 (NADE_HUMAN)

Entry version 144 (02 Jun 2021)
Sequence version 3 (01 Sep 2009)
Previous versions | rss
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Protein

Glutamine-dependent NAD(+) synthetase

Gene

NADSYN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the final step of the nicotinamide adenine dinucleotide (NAD) de novo synthesis pathway, the ATP-dependent amidation of deamido-NAD using L-glutamine as a nitrogen source.

2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.49 mM for deamido-NAD+1 Publication
  2. KM=0.089 mM for ATP1 Publication
  3. KM=1.44 mM for glutamine1 Publication
  4. KM=13.1 mM for ammonium1 Publication
  1. Vmax=0.99 nmol/min/µg enzyme deamido-NAD+1 Publication
  2. Vmax=0.61 nmol/min/µg enzyme ATP1 Publication
  3. Vmax=0.70 nmol/min/µg enzyme glutamine1 Publication
  4. Vmax=1.04 nmol/min/µg enzyme ammonium1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: NAD(+) biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes NAD(+) from deamido-NAD(+) (L-Gln route).1 Publication This subpathway is part of the pathway NAD(+) biosynthesis, which is itself part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes NAD(+) from deamido-NAD(+) (L-Gln route), the pathway NAD(+) biosynthesis and in Cofactor biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei45Proton acceptor; for glutaminase activityBy similarity1
Active sitei114For glutaminase activityBy similarity1
Active sitei175Nucleophile; for glutaminase activityBy similarity1
Active sitei357By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi355 – 362ATPBy similarity8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLigase
LigandATP-binding, NAD, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS10587-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		6.3.5.1, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6IA69

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-196807, Nicotinate metabolism

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00253;UER00334

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Glutamine-dependent NAD(+) synthetase (EC:6.3.5.12 Publications)
Alternative name(s):
NAD(+) synthase [glutamine-hydrolyzing]
NAD(+) synthetase
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NADSYN1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:29832, NADSYN1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608285, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6IA69

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000172890.11

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Vertebral, cardiac, renal, and limb defects syndrome 3 (VCRL3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, lethal disorder characterized by severe cardiac and renal anomalies, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia. Death occurs in early infancy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08404049C → R in VCRL3; loss of protein expression. 1 Publication1
Natural variantiVAR_084041132W → L in VCRL3; decreased protein expression; decreased NAD(+) synthase (glutamine-hydrolyzing) activity. 1 PublicationCorresponds to variant dbSNP:rs189928649Ensembl.1
Natural variantiVAR_084042245 – 706Missing in VCRL3. 1 PublicationAdd BLAST462
Natural variantiVAR_084043573A → T in VCRL3; no effect on protein expression; decreased NAD(+) synthase (glutamine-hydrolyzing) activity. 1 PublicationCorresponds to variant dbSNP:rs144139747Ensembl.1
Natural variantiVAR_084044613 – 706Missing in VCRL3. 1 PublicationAdd BLAST94

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi175C → S: Eliminates glutamine-dependent NAD synthetase activity with the ammonia-dependent activity intact. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		55191

MalaCards human disease database

More...MalaCardsi		NADSYN1
MIMi618845, phenotype

Open Targets

More...OpenTargetsi		ENSG00000172890

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		521438, Congenital vertebral-cardiac-renal anomalies syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671299

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6IA69, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00142, Glutamic acid
DB00130, L-Glutamine

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NADSYN1

Domain mapping of disease mutations (DMDM)

More...DMDMi		257051045

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002375771 – 706Glutamine-dependent NAD(+) synthetaseAdd BLAST706

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6IA69

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6IA69

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6IA69

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6IA69

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q6IA69

PeptideAtlas

More...PeptideAtlasi		Q6IA69

PRoteomics IDEntifications database

More...PRIDEi		Q6IA69

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3734
66358 [Q6IA69-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6IA69

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q6IA69

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q6IA69

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000172890, Expressed in small intestine Peyer's patch and 214 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6IA69, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6IA69, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000172890, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homohexamer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120488, 24 interactors

Protein interaction database and analysis system

More...IntActi		Q6IA69, 18 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000326424

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q6IA69

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6IA69, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1706
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q6IA69

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini5 – 275CN hydrolasePROSITE-ProRule annotationAdd BLAST271

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni325 – 706LigaseBy similarityAdd BLAST382

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

In the C-terminal section; belongs to the NAD synthetase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2303, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000010152

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_011884_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6IA69

Identification of Orthologs from Complete Genome Data

More...OMAi		LDFEGNM

Database of Orthologous Groups

More...OrthoDBi		283044at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6IA69

TreeFam database of animal gene trees

More...TreeFami		TF351426

Family and domain databases

Conserved Domains Database

More...CDDi		cd00553, NAD_synthase, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.620, 1 hit
3.60.110.10, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_02090, NadE_glutamine_dep, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003010, C-N_Hydrolase
IPR036526, C-N_Hydrolase_sf
IPR014445, Gln-dep_NAD_synthase
IPR022310, NAD/GMP_synthase
IPR003694, NAD_synthase
IPR014729, Rossmann-like_a/b/a_fold

The PANTHER Classification System

More...PANTHERi		PTHR23090, PTHR23090, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00795, CN_hydrolase, 1 hit
PF02540, NAD_synthase, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF006630, NADS_GAT, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF56317, SSF56317, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00552, nadE, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50263, CN_HYDROLASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6IA69-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGRKVTVATC ALNQWALDFE GNLQRILKSI EIAKNRGARY RLGPELEICG 
        60         70         80         90        100
YGCWDHYYES DTLLHSFQVL AALVESPVTQ DIICDVGMPV MHRNVRYNCR 
       110        120        130        140        150
VIFLNRKILL IRPKMALANE GNYRELRWFT PWSRSRHTEE YFLPRMIQDL 
       160        170        180        190        200
TKQETVPFGD AVLVTWDTCI GSEICEELWT PHSPHIDMGL DGVEIITNAS 
       210        220        230        240        250
GSHQVLRKAN TRVDLVTMVT SKNGGIYLLA NQKGCDGDRL YYDGCAMIAM 
       260        270        280        290        300
NGSVFAQGSQ FSLDDVEVLT ATLDLEDVRS YRAEISSRNL AASRASPYPR 
       310        320        330        340        350
VKVDFALSCH EDLLAPISEP IEWKYHSPEE EISLGPACWL WDFLRRSQQA 
       360        370        380        390        400
GFLLPLSGGV DSAATACLIY SMCCQVCEAV RSGNEEVLAD VRTIVNQISY 
       410        420        430        440        450
TPQDPRDLCG RILTTCYMAS KNSSQETCTR ARELAQQIGS HHISLNIDPA 
       460        470        480        490        500
VKAVMGIFSL VTGKSPLFAA HGGSSRENLA LQNVQARIRM VLAYLFAQLS 
       510        520        530        540        550
LWSRGVHGGL LVLGSANVDE SLLGYLTKYD CSSADINPIG GISKTDLRAF 
       560        570        580        590        600
VQFCIQRFQL PALQSILLAP ATAELEPLAD GQVSQTDEED MGMTYAELSV 
       610        620        630        640        650
YGKLRKVAKM GPYSMFCKLL GMWRHICTPR QVADKVKRFF SKYSMNRHKM 
       660        670        680        690        700
TTLTPAYHAE NYSPEDNRFD LRPFLYNTSW PWQFRCIENQ VLQLERAEPQ 

SLDGVD
Length:706
Mass (Da):79,285
Last modified:September 1, 2009 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9788B060F3A1D13B
GO
Isoform 2 (identifier: Q6IA69-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: MGRKVT → MGISGQ
     7-266: Missing.

Show »
Length:446
Mass (Da):49,718
Checksum:i405425F9F53D8AC7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YCF9H0YCF9_HUMAN
Glutamine-dependent NAD(+) syntheta...
NADSYN1
127Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PKY6E9PKY6_HUMAN
Glutamine-dependent NAD(+) syntheta...
NADSYN1
294Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YCQ6H0YCQ6_HUMAN
Glutamine-dependent NAD(+) syntheta...
NADSYN1
259Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PND0E9PND0_HUMAN
Glutamine-dependent NAD(+) syntheta...
NADSYN1
88Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PNF5E9PNF5_HUMAN
Glutamine-dependent NAD(+) syntheta...
NADSYN1
149Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0B4J216A0A0B4J216_HUMAN
Glutamine-dependent NAD(+) syntheta...
NADSYN1
335Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDH3H0YDH3_HUMAN
Glutamine-dependent NAD(+) syntheta...
NADSYN1
111Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YED2H0YED2_HUMAN
Glutamine-dependent NAD(+) syntheta...
NADSYN1
59Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti102I → V in BAC65148 (PubMed:12547821).Curated1
Sequence conflicti207R → H in CAG33567 (Ref. 3) Curated1
Sequence conflicti623W → R in BAC65148 (PubMed:12547821).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08404049C → R in VCRL3; loss of protein expression. 1 Publication1
Natural variantiVAR_02649774V → L3 PublicationsCorresponds to variant dbSNP:rs2276360Ensembl.1
Natural variantiVAR_084041132W → L in VCRL3; decreased protein expression; decreased NAD(+) synthase (glutamine-hydrolyzing) activity. 1 PublicationCorresponds to variant dbSNP:rs189928649Ensembl.1
Natural variantiVAR_058703204Q → H4 PublicationsCorresponds to variant dbSNP:rs7950441Ensembl.1
Natural variantiVAR_084042245 – 706Missing in VCRL3. 1 PublicationAdd BLAST462
Natural variantiVAR_056204297P → L. Corresponds to variant dbSNP:rs7121106Ensembl.1
Natural variantiVAR_084043573A → T in VCRL3; no effect on protein expression; decreased NAD(+) synthase (glutamine-hydrolyzing) activity. 1 PublicationCorresponds to variant dbSNP:rs144139747Ensembl.1
Natural variantiVAR_056205591M → I. Corresponds to variant dbSNP:rs35007971EnsemblClinVar.1
Natural variantiVAR_084044613 – 706Missing in VCRL3. 1 PublicationAdd BLAST94
Natural variantiVAR_056206704G → S. Corresponds to variant dbSNP:rs12282060Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0565851 – 6MGRKVT → MGISGQ in isoform 2. 1 Publication6
Alternative sequenceiVSP_0565867 – 266Missing in isoform 2. 1 PublicationAdd BLAST260

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB091316 mRNA Translation: BAC65148.1
AK001493 mRNA Translation: BAA91722.1
AK022436 mRNA Translation: BAB14034.1
AK097946 mRNA Translation: BAG53556.1
CR457286 mRNA Translation: CAG33567.1
AP000867 Genomic DNA No translation available.
AP002387 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW74792.1
BC003638 mRNA Translation: AAH03638.1
BC003666 mRNA Translation: AAH03666.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8201.1 [Q6IA69-1]

NCBI Reference Sequences

More...RefSeqi		NP_060631.2, NM_018161.4 [Q6IA69-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000319023; ENSP00000326424; ENSG00000172890 [Q6IA69-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55191

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55191

UCSC genome browser

More...UCSCi		uc001oqn.4, human [Q6IA69-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB091316 mRNA Translation: BAC65148.1
AK001493 mRNA Translation: BAA91722.1
AK022436 mRNA Translation: BAB14034.1
AK097946 mRNA Translation: BAG53556.1
CR457286 mRNA Translation: CAG33567.1
AP000867 Genomic DNA No translation available.
AP002387 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW74792.1
BC003638 mRNA Translation: AAH03638.1
BC003666 mRNA Translation: AAH03666.1
CCDSiCCDS8201.1 [Q6IA69-1]
RefSeqiNP_060631.2, NM_018161.4 [Q6IA69-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6OFBX-ray2.84A/B1-706[»]
SMRiQ6IA69
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120488, 24 interactors
IntActiQ6IA69, 18 interactors
STRINGi9606.ENSP00000326424

Chemistry databases

BindingDBiQ6IA69
DrugBankiDB00142, Glutamic acid
DB00130, L-Glutamine

PTM databases

iPTMnetiQ6IA69
MetOSiteiQ6IA69
PhosphoSitePlusiQ6IA69

Genetic variation databases

BioMutaiNADSYN1
DMDMi257051045

Proteomic databases

EPDiQ6IA69
jPOSTiQ6IA69
MassIVEiQ6IA69
MaxQBiQ6IA69
PaxDbiQ6IA69
PeptideAtlasiQ6IA69
PRIDEiQ6IA69
ProteomicsDBi3734
66358 [Q6IA69-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30728, 73 antibodies

The DNASU plasmid repository

More...DNASUi		55191

Genome annotation databases

EnsembliENST00000319023; ENSP00000326424; ENSG00000172890 [Q6IA69-1]
GeneIDi55191
KEGGihsa:55191
UCSCiuc001oqn.4, human [Q6IA69-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55191
DisGeNETi55191

GeneCards: human genes, protein and diseases

More...GeneCardsi		NADSYN1
HGNCiHGNC:29832, NADSYN1
HPAiENSG00000172890, Low tissue specificity
MalaCardsiNADSYN1
MIMi608285, gene
618845, phenotype
neXtProtiNX_Q6IA69
OpenTargetsiENSG00000172890
Orphaneti521438, Congenital vertebral-cardiac-renal anomalies syndrome
PharmGKBiPA142671299
VEuPathDBiHostDB:ENSG00000172890.11

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2303, Eukaryota
GeneTreeiENSGT00390000010152
HOGENOMiCLU_011884_2_0_1
InParanoidiQ6IA69
OMAiLDFEGNM
OrthoDBi283044at2759
PhylomeDBiQ6IA69
TreeFamiTF351426

Enzyme and pathway databases

UniPathwayiUPA00253;UER00334
BioCyciMetaCyc:HS10587-MONOMER
BRENDAi6.3.5.1, 2681
PathwayCommonsiQ6IA69
ReactomeiR-HSA-196807, Nicotinate metabolism

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55191, 1 hit in 994 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		NADSYN1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NADSYN1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55191
PharosiQ6IA69, Tbio

Protein Ontology

More...PROi		PR:Q6IA69
RNActiQ6IA69, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000172890, Expressed in small intestine Peyer's patch and 214 other tissues
ExpressionAtlasiQ6IA69, baseline and differential
GenevisibleiQ6IA69, HS

Family and domain databases

CDDicd00553, NAD_synthase, 1 hit
Gene3Di3.40.50.620, 1 hit
3.60.110.10, 1 hit
HAMAPiMF_02090, NadE_glutamine_dep, 1 hit
InterProiView protein in InterPro
IPR003010, C-N_Hydrolase
IPR036526, C-N_Hydrolase_sf
IPR014445, Gln-dep_NAD_synthase
IPR022310, NAD/GMP_synthase
IPR003694, NAD_synthase
IPR014729, Rossmann-like_a/b/a_fold
PANTHERiPTHR23090, PTHR23090, 1 hit
PfamiView protein in Pfam
PF00795, CN_hydrolase, 1 hit
PF02540, NAD_synthase, 1 hit
PIRSFiPIRSF006630, NADS_GAT, 1 hit
SUPFAMiSSF56317, SSF56317, 1 hit
TIGRFAMsiTIGR00552, nadE, 1 hit
PROSITEiView protein in PROSITE
PS50263, CN_HYDROLASE, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNADE_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6IA69
Secondary accession number(s): B3KUU4
, Q86SN2, Q9HA25, Q9NVM8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: September 1, 2009
Last modified: June 2, 2021
This is version 144 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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