UniProtKB - Q6IA69 (NADE_HUMAN)
Protein
Glutamine-dependent NAD(+) synthetase
Gene
NADSYN1
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the ATP-dependent amidation of deamido-NAD to form NAD (PubMed:12547821). Uses L-glutamine as a nitrogen source (PubMed:12547821).1 Publication
Catalytic activityi
- EC:6.3.5.11 Publication
Kineticsi
- KM=0.49 mM for deamido-NAD+1 Publication
- KM=0.089 mM for ATP1 Publication
- KM=1.44 mM for glutamine1 Publication
- KM=13.1 mM for ammonium1 Publication
- Vmax=0.99 nmol/min/µg enzyme deamido-NAD+1 Publication
- Vmax=0.61 nmol/min/µg enzyme ATP1 Publication
- Vmax=0.70 nmol/min/µg enzyme glutamine1 Publication
- Vmax=1.04 nmol/min/µg enzyme ammonium1 Publication
: NAD(+) biosynthesis Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes NAD(+) from deamido-NAD(+) (L-Gln route).1 PublicationProteins known to be involved in this subpathway in this organism are:
- Glutamine-dependent NAD(+) synthetase (NADSYN1)
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 45 | Proton acceptor; for glutaminase activityBy similarity | 1 | |
Active sitei | 114 | For glutaminase activityBy similarity | 1 | |
Active sitei | 175 | Nucleophile; for glutaminase activityBy similarity | 1 | |
Active sitei | 357 | By similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 355 – 362 | ATPBy similarity | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- glutaminase activity Source: GO_Central
- NAD+ synthase (glutamine-hydrolyzing) activity Source: GO_Central
GO - Biological processi
- NAD biosynthetic process Source: GO_Central
- NAD metabolic process Source: Reactome
Keywordsi
Molecular function | Ligase |
Ligand | ATP-binding, NAD, Nucleotide-binding |
Enzyme and pathway databases
BioCyci | MetaCyc:HS10587-MONOMER |
BRENDAi | 6.3.5.1, 2681 |
PathwayCommonsi | Q6IA69 |
Reactomei | R-HSA-196807, Nicotinate metabolism |
UniPathwayi | UPA00253;UER00334 |
Names & Taxonomyi
Protein namesi | Recommended name: Glutamine-dependent NAD(+) synthetase (EC:6.3.5.11 Publication)Alternative name(s): NAD(+) synthase [glutamine-hydrolyzing] NAD(+) synthetase |
Gene namesi | Name:NADSYN1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000172890.11 |
HGNCi | HGNC:29832, NADSYN1 |
MIMi | 608285, gene |
neXtProti | NX_Q6IA69 |
Subcellular locationi
Pathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 175 | C → S: Eliminates glutamine-dependent NAD synthetase activity with the ammonia-dependent activity intact. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 55191 |
MalaCardsi | NADSYN1 |
OpenTargetsi | ENSG00000172890 |
Orphaneti | 521438, Congenital vertebral-cardiac-renal anomalies syndrome |
PharmGKBi | PA142671299 |
Miscellaneous databases
Pharosi | Q6IA69, Tbio |
Chemistry databases
DrugBanki | DB00142, Glutamic acid DB00130, L-Glutamine |
Polymorphism and mutation databases
BioMutai | NADSYN1 |
DMDMi | 257051045 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000237577 | 1 – 706 | Glutamine-dependent NAD(+) synthetaseAdd BLAST | 706 |
Proteomic databases
EPDi | Q6IA69 |
jPOSTi | Q6IA69 |
MassIVEi | Q6IA69 |
MaxQBi | Q6IA69 |
PaxDbi | Q6IA69 |
PeptideAtlasi | Q6IA69 |
PRIDEi | Q6IA69 |
ProteomicsDBi | 3734 66358 [Q6IA69-1] |
PTM databases
iPTMneti | Q6IA69 |
MetOSitei | Q6IA69 |
PhosphoSitePlusi | Q6IA69 |
Expressioni
Gene expression databases
Bgeei | ENSG00000172890, Expressed in small intestine Peyer's patch and 213 other tissues |
ExpressionAtlasi | Q6IA69, baseline and differential |
Genevisiblei | Q6IA69, HS |
Organism-specific databases
HPAi | ENSG00000172890, Low tissue specificity |
Interactioni
Subunit structurei
Homohexamer.
1 PublicationBinary interactionsi
Hide detailsQ6IA69
Protein-protein interaction databases
BioGRIDi | 120488, 22 interactors |
IntActi | Q6IA69, 18 interactors |
STRINGi | 9606.ENSP00000326424 |
Chemistry databases
BindingDBi | Q6IA69 |
Miscellaneous databases
RNActi | Q6IA69, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q6IA69 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 5 – 275 | CN hydrolasePROSITE-ProRule annotationAdd BLAST | 271 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 325 – 706 | LigaseBy similarityAdd BLAST | 382 |
Sequence similaritiesi
In the C-terminal section; belongs to the NAD synthetase family.Curated
Phylogenomic databases
eggNOGi | KOG2303, Eukaryota |
GeneTreei | ENSGT00390000010152 |
HOGENOMi | CLU_011884_2_0_1 |
InParanoidi | Q6IA69 |
OMAi | LDFEGNM |
OrthoDBi | 283044at2759 |
PhylomeDBi | Q6IA69 |
TreeFami | TF351426 |
Family and domain databases
CDDi | cd00553, NAD_synthase, 1 hit |
Gene3Di | 3.40.50.620, 1 hit 3.60.110.10, 1 hit |
HAMAPi | MF_02090, NadE_glutamine_dep, 1 hit |
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 |
PANTHERi | PTHR23090, PTHR23090, 1 hit |
Pfami | View protein in Pfam PF00795, CN_hydrolase, 1 hit PF02540, NAD_synthase, 1 hit |
PIRSFi | PIRSF006630, NADS_GAT, 1 hit |
SUPFAMi | SSF56317, SSF56317, 1 hit |
TIGRFAMsi | TIGR00552, nadE, 1 hit |
PROSITEi | View protein in PROSITE PS50263, CN_HYDROLASE, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YCF9 | H0YCF9_HUMAN | Glutamine-dependent NAD(+) syntheta... | NADSYN1 | 127 | Annotation score: | ||
E9PKY6 | E9PKY6_HUMAN | Glutamine-dependent NAD(+) syntheta... | NADSYN1 | 294 | Annotation score: | ||
H0YCQ6 | H0YCQ6_HUMAN | Glutamine-dependent NAD(+) syntheta... | NADSYN1 | 259 | Annotation score: | ||
E9PND0 | E9PND0_HUMAN | Glutamine-dependent NAD(+) syntheta... | NADSYN1 | 88 | Annotation score: | ||
E9PNF5 | E9PNF5_HUMAN | Glutamine-dependent NAD(+) syntheta... | NADSYN1 | 149 | Annotation score: | ||
A0A0B4J216 | A0A0B4J216_HUMAN | Glutamine-dependent NAD(+) syntheta... | NADSYN1 | 335 | Annotation score: | ||
H0YDH3 | H0YDH3_HUMAN | Glutamine-dependent NAD(+) syntheta... | NADSYN1 | 111 | Annotation score: | ||
H0YED2 | H0YED2_HUMAN | Glutamine-dependent NAD(+) syntheta... | NADSYN1 | 59 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 102 | I → V in BAC65148 (PubMed:12547821).Curated | 1 | |
Sequence conflicti | 207 | R → H in CAG33567 (Ref. 3) Curated | 1 | |
Sequence conflicti | 623 | W → R in BAC65148 (PubMed:12547821).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_026497 | 74 | V → L3 PublicationsCorresponds to variant dbSNP:rs2276360Ensembl. | 1 | |
Natural variantiVAR_058703 | 204 | Q → H4 PublicationsCorresponds to variant dbSNP:rs7950441Ensembl. | 1 | |
Natural variantiVAR_056204 | 297 | P → L. Corresponds to variant dbSNP:rs7121106Ensembl. | 1 | |
Natural variantiVAR_056205 | 591 | M → I. Corresponds to variant dbSNP:rs35007971EnsemblClinVar. | 1 | |
Natural variantiVAR_056206 | 704 | G → S. Corresponds to variant dbSNP:rs12282060Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056585 | 1 – 6 | MGRKVT → MGISGQ in isoform 2. 1 Publication | 6 | |
Alternative sequenceiVSP_056586 | 7 – 266 | Missing in isoform 2. 1 PublicationAdd BLAST | 260 |
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 |
CCDSi | CCDS8201.1 [Q6IA69-1] |
RefSeqi | NP_060631.2, NM_018161.4 [Q6IA69-1] |
Genome annotation databases
Ensembli | ENST00000319023; ENSP00000326424; ENSG00000172890 [Q6IA69-1] |
GeneIDi | 55191 |
KEGGi | hsa:55191 |
UCSCi | uc001oqn.4, human [Q6IA69-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS8201.1 [Q6IA69-1] |
RefSeqi | NP_060631.2, NM_018161.4 [Q6IA69-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6OFB | X-ray | 2.84 | A/B | 1-706 | [»] | |
SMRi | Q6IA69 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120488, 22 interactors |
IntActi | Q6IA69, 18 interactors |
STRINGi | 9606.ENSP00000326424 |
Chemistry databases
BindingDBi | Q6IA69 |
DrugBanki | DB00142, Glutamic acid DB00130, L-Glutamine |
PTM databases
iPTMneti | Q6IA69 |
MetOSitei | Q6IA69 |
PhosphoSitePlusi | Q6IA69 |
Polymorphism and mutation databases
BioMutai | NADSYN1 |
DMDMi | 257051045 |
Proteomic databases
EPDi | Q6IA69 |
jPOSTi | Q6IA69 |
MassIVEi | Q6IA69 |
MaxQBi | Q6IA69 |
PaxDbi | Q6IA69 |
PeptideAtlasi | Q6IA69 |
PRIDEi | Q6IA69 |
ProteomicsDBi | 3734 66358 [Q6IA69-1] |
Protocols and materials databases
Antibodypediai | 30728, 74 antibodies |
Genome annotation databases
Ensembli | ENST00000319023; ENSP00000326424; ENSG00000172890 [Q6IA69-1] |
GeneIDi | 55191 |
KEGGi | hsa:55191 |
UCSCi | uc001oqn.4, human [Q6IA69-1] |
Organism-specific databases
CTDi | 55191 |
DisGeNETi | 55191 |
EuPathDBi | HostDB:ENSG00000172890.11 |
GeneCardsi | NADSYN1 |
HGNCi | HGNC:29832, NADSYN1 |
HPAi | ENSG00000172890, Low tissue specificity |
MalaCardsi | NADSYN1 |
MIMi | 608285, gene |
neXtProti | NX_Q6IA69 |
OpenTargetsi | ENSG00000172890 |
Orphaneti | 521438, Congenital vertebral-cardiac-renal anomalies syndrome |
PharmGKBi | PA142671299 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2303, Eukaryota |
GeneTreei | ENSGT00390000010152 |
HOGENOMi | CLU_011884_2_0_1 |
InParanoidi | Q6IA69 |
OMAi | LDFEGNM |
OrthoDBi | 283044at2759 |
PhylomeDBi | Q6IA69 |
TreeFami | TF351426 |
Enzyme and pathway databases
UniPathwayi | UPA00253;UER00334 |
BioCyci | MetaCyc:HS10587-MONOMER |
BRENDAi | 6.3.5.1, 2681 |
PathwayCommonsi | Q6IA69 |
Reactomei | R-HSA-196807, Nicotinate metabolism |
Miscellaneous databases
BioGRID-ORCSi | 55191, 1 hit in 843 CRISPR screens |
ChiTaRSi | NADSYN1, human |
GeneWikii | NADSYN1 |
GenomeRNAii | 55191 |
Pharosi | Q6IA69, Tbio |
PROi | PR:Q6IA69 |
RNActi | Q6IA69, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000172890, Expressed in small intestine Peyer's patch and 213 other tissues |
ExpressionAtlasi | Q6IA69, baseline and differential |
Genevisiblei | Q6IA69, HS |
Family and domain databases
CDDi | cd00553, NAD_synthase, 1 hit |
Gene3Di | 3.40.50.620, 1 hit 3.60.110.10, 1 hit |
HAMAPi | MF_02090, NadE_glutamine_dep, 1 hit |
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 |
PANTHERi | PTHR23090, PTHR23090, 1 hit |
Pfami | View protein in Pfam PF00795, CN_hydrolase, 1 hit PF02540, NAD_synthase, 1 hit |
PIRSFi | PIRSF006630, NADS_GAT, 1 hit |
SUPFAMi | SSF56317, SSF56317, 1 hit |
TIGRFAMsi | TIGR00552, nadE, 1 hit |
PROSITEi | View protein in PROSITE PS50263, CN_HYDROLASE, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NADE_HUMAN | |
Accessioni | Q6IA69Primary (citable) accession number: Q6IA69 Secondary accession number(s): B3KUU4 Q9NVM8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2006 |
Last sequence update: | September 1, 2009 | |
Last modified: | December 2, 2020 | |
This is version 141 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations