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Entry version 175 (07 Oct 2020)
Sequence version 1 (01 Mar 2001)
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Protein

Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1

Gene

NMNAT1

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 formation of NAD+ from nicotinamide mononucleotide (NMN) and ATP (PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency (PubMed:17402747). Can use triazofurin monophosphate (TrMP) as substrate (PubMed:17402747). Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD+ (PubMed:17402747). For the pyrophosphorolytic activity, prefers NAD+ and NaAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively (PubMed:17402747). Involved in the synthesis of ATP in the nucleus, together with PARP1, PARG and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257). Fails to cleave phosphorylated dinucleotides NADP+, NADPH and NaADP+ (PubMed:17402747). Protects against axonal degeneration following mechanical or toxic insults (By similarity).By similarity2 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 provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+2 Publications, Mg2+2 PublicationsNote: Divalent metal cations. Zn2+ confers higher activity as compared to Mg2+.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activity is strongly inhibited by galotannin. Inhibited by P1-(adenosine-5')-P4-(nicotinic-acid-riboside-5')-tetraphosphate (Nap4AD).1 Publication

<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=34 µM for NMN2 Publications
  2. KM=40 µM for ATP2 Publications
  3. KM=937 µM for PPi2 Publications
  4. KM=59 µM for NAD+2 Publications
  1. Vmax=25 µmol/min/mg enzyme for NAD synthesis2 Publications
  2. Vmax=60.5 µmol/min/µg enzyme for NAD+ cleavage2 Publications
  3. Vmax=8.5 µmol/min/µg enzyme for NADH cleavage2 Publications

<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 nicotinamide D-ribonucleotide.
Proteins known to be involved in this subpathway in this organism are:
  1. Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 (NMNAT2), Nicotinamide-nucleotide adenylyltransferase (NMNAT1), Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 (NMNAT1), Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 (NMNAT3), Nicotinamide-nucleotide adenylyltransferase (NMNAT3), Nicotinamide-nucleotide adenylyltransferase
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 nicotinamide D-ribonucleotide, the pathway NAD(+) biosynthesis and in Cofactor biosynthesis.

Pathwayi: NAD(+) biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes deamido-NAD(+) from nicotinate D-ribonucleotide.
Proteins known to be involved in this subpathway in this organism are:
  1. Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 (NMNAT2), Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 (NMNAT1), Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 (NMNAT3)
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 deamido-NAD(+) from nicotinate D-ribonucleotide, 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 describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei24ATPBy similarity1
Binding sitei58ATPBy 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 bindingi15 – 17ATPBy similarity1 Publication3
Nucleotide bindingi156 – 158ATPBy similarity3
Nucleotide bindingi224 – 227ATPBy similarity4

<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

GO - Biological processi

<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 functionNucleotidyltransferase, Transferase
Biological processPyridine nucleotide biosynthesis
LigandATP-binding, Magnesium, NAD, Nucleotide-binding, Zinc

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS10701-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.7.1, 2681
2.7.7.18, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9HAN9

Reactome - a knowledgebase of biological pathways and processes

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

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q9HAN9

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

More...
UniPathwayi
UPA00253;UER00332
UPA00253;UER00600

<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:
Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1Curated (EC:2.7.7.1, EC:2.7.7.18)
Short name:
NMN/NaMN adenylyltransferase 1
Alternative name(s):
Nicotinamide-nucleotide adenylyltransferase 1
Short name:
NMN adenylyltransferase 1
Nicotinate-nucleotide adenylyltransferase 1
Short name:
NaMN adenylyltransferase 1
<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:NMNAT1
Synonyms:NMNAT
<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)Imported
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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: Unplaced

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000173614.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17877, NMNAT1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608700, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9HAN9

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<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

Leber congenital amaurosis 9 (LCA9)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
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_0688569V → M in LCA9; does not affect nuclear localization; results in significantly reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs387907294EnsemblClinVar.1
Natural variantiVAR_06885713A → T in LCA9. 3 PublicationsCorresponds to variant dbSNP:rs138613460EnsemblClinVar.1
Natural variantiVAR_06885820I → N in LCA9. 1 PublicationCorresponds to variant dbSNP:rs761948762Ensembl.1
Natural variantiVAR_06885933D → G in LCA9. 1 Publication1
Natural variantiVAR_06886035M → T in LCA9. 1 Publication1
Natural variantiVAR_06886154A → V in LCA9. 1 PublicationCorresponds to variant dbSNP:rs760965874Ensembl.1
Natural variantiVAR_06886266R → W in LCA9; does not affect nuclear localization; results in significantly reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs763325435Ensembl.1
Natural variantiVAR_06886367V → F in LCA9. 1 PublicationCorresponds to variant dbSNP:rs756903689Ensembl.1
Natural variantiVAR_06886469M → V in LCA9. 2 PublicationsCorresponds to variant dbSNP:rs372066126Ensembl.1
Natural variantiVAR_06886572L → H in LCA9. 1 Publication1
Natural variantiVAR_06886698V → G in LCA9. 3 PublicationsCorresponds to variant dbSNP:rs771336246Ensembl.1
Natural variantiVAR_068867147A → P in LCA9. 1 Publication1
Natural variantiVAR_068868151V → F in LCA9. 2 PublicationsCorresponds to variant dbSNP:rs387907292EnsemblClinVar.1
Natural variantiVAR_068869153L → P in LCA9. 1 Publication1
Natural variantiVAR_068870153L → V in LCA9. 1 PublicationCorresponds to variant dbSNP:rs387907293EnsemblClinVar.1
Natural variantiVAR_068871156G → R in LCA9. 1 PublicationCorresponds to variant dbSNP:rs1244511644Ensembl.1
Natural variantiVAR_068872173D → G in LCA9. 1 Publication1
Natural variantiVAR_068873178V → M in LCA9. 1 PublicationCorresponds to variant dbSNP:rs757724544Ensembl.1
Natural variantiVAR_068874181Y → C in LCA9. 1 PublicationCorresponds to variant dbSNP:rs748913297Ensembl.1
Natural variantiVAR_068875184I → M in LCA9. 1 Publication1
Natural variantiVAR_068876207R → W in LCA9; results in significantly reduced enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs142968179EnsemblClinVar.1
Natural variantiVAR_068877217I → N in LCA9. 1 Publication1
Natural variantiVAR_068878237R → C in LCA9; does not affect nuclear localization. 2 PublicationsCorresponds to variant dbSNP:rs375110174Ensembl.1
Natural variantiVAR_068879237R → L in LCA9. 1 PublicationCorresponds to variant dbSNP:rs368062092EnsemblClinVar.1
Natural variantiVAR_068880239L → S in LCA9. 1 PublicationCorresponds to variant dbSNP:rs778606847EnsemblClinVar.1
Natural variantiVAR_068881251H → P in LCA9. 1 PublicationCorresponds to variant dbSNP:rs1208495291Ensembl.1
Natural variantiVAR_068882257E → K in LCA9; results in significantly reduced enzymatic activity; the mutant localizes to the cytoplasm. 3 PublicationsCorresponds to variant dbSNP:rs150726175EnsemblClinVar.1
Natural variantiVAR_068883273N → D in LCA9; results in significantly reduced enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs387907291EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
64802

MalaCards human disease database

More...
MalaCardsi
NMNAT1
MIMi608553, phenotype

Open Targets

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OpenTargetsi
ENSG00000173614

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

More...
Orphaneti
1872, Cone rod dystrophy
65, Leber congenital amaurosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31660

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HAN9, Tbio

Chemistry databases

Drug and drug target database

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DrugBanki
DB04099, Deamido-Nad
DB03227, Nicotinamide Mononucleotide

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NMNAT1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
30580491

<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_00001350121 – 279Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1Add BLAST279

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei117PhosphoserineCombined sources1
Modified residuei119PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9HAN9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9HAN9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9HAN9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9HAN9

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

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PaxDbi
Q9HAN9

PeptideAtlas

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PeptideAtlasi
Q9HAN9

PRoteomics IDEntifications database

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PRIDEi
Q9HAN9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
81410

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HAN9

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

More...
PhosphoSitePlusi
Q9HAN9

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed with highest levels in skeletal muscle, heart and kidney. Also expressed in the liver pancreas and placenta. Widely expressed throughout the brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000173614, Expressed in muscle of leg and 197 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9HAN9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9HAN9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000173614, 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.

Interacts with ADPRT/PARP1.

2 Publications

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
122308, 67 interactors

Database of interacting proteins

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DIPi
DIP-60881N

Protein interaction database and analysis system

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IntActi
Q9HAN9, 46 interactors

Molecular INTeraction database

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MINTi
Q9HAN9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000366410

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9HAN9, 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

1279
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

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SMRi
Q9HAN9

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9HAN9

<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

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>Regioni55 – 57Substrate binding1 Publication3
Regioni92 – 95Substrate binding2 Publications4
Regioni168 – 169Substrate binding2 Publications2

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi123 – 129Nuclear localization signalSequence analysis7

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3199, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00950000183179

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_033366_3_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9HAN9

KEGG Orthology (KO)

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KOi
K06210

Identification of Orthologs from Complete Genome Data

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OMAi
PAHHRVI

Database of Orthologous Groups

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OrthoDBi
1308027at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9HAN9

TreeFam database of animal gene trees

More...
TreeFami
TF315035

Family and domain databases

Database of protein disorder

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DisProti
DP01165

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR004821, Cyt_trans-like
IPR005248, NadD/NMNAT

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01467, CTP_transf_like, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00482, TIGR00482, 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>Sequence (1+)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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9HAN9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MENSEKTEVV LLACGSFNPI TNMHLRLFEL AKDYMNGTGR YTVVKGIISP
60 70 80 90 100
VGDAYKKKGL IPAYHRVIMA ELATKNSKWV EVDTWESLQK EWKETLKVLR
110 120 130 140 150
HHQEKLEASD CDHQQNSPTL ERPGRKRKWT ETQDSSQKKS LEPKTKAVPK
160 170 180 190 200
VKLLCGADLL ESFAVPNLWK SEDITQIVAN YGLICVTRAG NDAQKFIYES
210 220 230 240 250
DVLWKHRSNI HVVNEWIAND ISSTKIRRAL RRGQSIRYLV PDLVQEYIEK
260 270
HNLYSSESED RNAGVILAPL QRNTAEAKT
Length:279
Mass (Da):31,932
Last modified:March 1, 2001 - v1
<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:i740DE872CD9C22E7
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AN62B1AN62_HUMAN
Nicotinamide/nicotinic acid mononuc...
NMNAT1
160Annotation 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>
K7EPD7K7EPD7_HUMAN
Nicotinamide/nicotinic acid mononuc...
NMNAT1
42Annotation 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 conflicti20I → F in AAL76934 (PubMed:11027696).Curated1
Sequence conflicti20I → F in AAL76935 (PubMed:11027696).Curated1
Sequence conflicti217I → F in AAG33629 (PubMed:11891043).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0688569V → M in LCA9; does not affect nuclear localization; results in significantly reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs387907294EnsemblClinVar.1
Natural variantiVAR_06885713A → T in LCA9. 3 PublicationsCorresponds to variant dbSNP:rs138613460EnsemblClinVar.1
Natural variantiVAR_06885820I → N in LCA9. 1 PublicationCorresponds to variant dbSNP:rs761948762Ensembl.1
Natural variantiVAR_06885933D → G in LCA9. 1 Publication1
Natural variantiVAR_06886035M → T in LCA9. 1 Publication1
Natural variantiVAR_06886154A → V in LCA9. 1 PublicationCorresponds to variant dbSNP:rs760965874Ensembl.1
Natural variantiVAR_06886266R → W in LCA9; does not affect nuclear localization; results in significantly reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs763325435Ensembl.1
Natural variantiVAR_06886367V → F in LCA9. 1 PublicationCorresponds to variant dbSNP:rs756903689Ensembl.1
Natural variantiVAR_06886469M → V in LCA9. 2 PublicationsCorresponds to variant dbSNP:rs372066126Ensembl.1
Natural variantiVAR_06886572L → H in LCA9. 1 Publication1
Natural variantiVAR_06886698V → G in LCA9. 3 PublicationsCorresponds to variant dbSNP:rs771336246Ensembl.1
Natural variantiVAR_068867147A → P in LCA9. 1 Publication1
Natural variantiVAR_068868151V → F in LCA9. 2 PublicationsCorresponds to variant dbSNP:rs387907292EnsemblClinVar.1
Natural variantiVAR_068869153L → P in LCA9. 1 Publication1
Natural variantiVAR_068870153L → V in LCA9. 1 PublicationCorresponds to variant dbSNP:rs387907293EnsemblClinVar.1
Natural variantiVAR_068871156G → R in LCA9. 1 PublicationCorresponds to variant dbSNP:rs1244511644Ensembl.1
Natural variantiVAR_068872173D → G in LCA9. 1 Publication1
Natural variantiVAR_068873178V → M in LCA9. 1 PublicationCorresponds to variant dbSNP:rs757724544Ensembl.1
Natural variantiVAR_068874181Y → C in LCA9. 1 PublicationCorresponds to variant dbSNP:rs748913297Ensembl.1
Natural variantiVAR_068875184I → M in LCA9. 1 Publication1
Natural variantiVAR_068876207R → W in LCA9; results in significantly reduced enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs142968179EnsemblClinVar.1
Natural variantiVAR_068877217I → N in LCA9. 1 Publication1
Natural variantiVAR_068878237R → C in LCA9; does not affect nuclear localization. 2 PublicationsCorresponds to variant dbSNP:rs375110174Ensembl.1
Natural variantiVAR_068879237R → L in LCA9. 1 PublicationCorresponds to variant dbSNP:rs368062092EnsemblClinVar.1
Natural variantiVAR_068880239L → S in LCA9. 1 PublicationCorresponds to variant dbSNP:rs778606847EnsemblClinVar.1
Natural variantiVAR_068881251H → P in LCA9. 1 PublicationCorresponds to variant dbSNP:rs1208495291Ensembl.1
Natural variantiVAR_068882257E → K in LCA9; results in significantly reduced enzymatic activity; the mutant localizes to the cytoplasm. 3 PublicationsCorresponds to variant dbSNP:rs150726175EnsemblClinVar.1
Natural variantiVAR_068883273N → D in LCA9; results in significantly reduced enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs387907291EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF314163 mRNA Translation: AAG33632.1
AF312734 mRNA Translation: AAG33629.1
AF459819 mRNA Translation: AAL76934.1
AF459823 AF459822 Genomic DNA Translation: AAL76935.1
AK026065 mRNA Translation: BAB15345.1
AK315640 mRNA Translation: BAG38007.1
AL603962 Genomic DNA No translation available.
AL357140 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71635.1
BC014943 mRNA Translation: AAH14943.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS108.1

NCBI Reference Sequences

More...
RefSeqi
NP_001284707.1, NM_001297778.1
NP_073624.2, NM_022787.3
XP_016857596.1, XM_017002107.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000377205; ENSP00000366410; ENSG00000173614
ENST00000462686; ENSP00000435134; ENSG00000173614

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
64802

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:64802

UCSC genome browser

More...
UCSCi
uc001aqp.3, human

<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
AF314163 mRNA Translation: AAG33632.1
AF312734 mRNA Translation: AAG33629.1
AF459819 mRNA Translation: AAL76934.1
AF459823 AF459822 Genomic DNA Translation: AAL76935.1
AK026065 mRNA Translation: BAB15345.1
AK315640 mRNA Translation: BAG38007.1
AL603962 Genomic DNA No translation available.
AL357140 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71635.1
BC014943 mRNA Translation: AAH14943.1
CCDSiCCDS108.1
RefSeqiNP_001284707.1, NM_001297778.1
NP_073624.2, NM_022787.3
XP_016857596.1, XM_017002107.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1GZUX-ray2.90A/B/C2-279[»]
1KKUX-ray2.50A1-279[»]
1KQNX-ray2.20A/B/C/D/E/F1-279[»]
1KQOX-ray2.50A/B/C/D/E/F1-279[»]
1KR2X-ray2.30A/B/C/D/E/F1-279[»]
SMRiQ9HAN9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi122308, 67 interactors
DIPiDIP-60881N
IntActiQ9HAN9, 46 interactors
MINTiQ9HAN9
STRINGi9606.ENSP00000366410

Chemistry databases

DrugBankiDB04099, Deamido-Nad
DB03227, Nicotinamide Mononucleotide

PTM databases

iPTMnetiQ9HAN9
PhosphoSitePlusiQ9HAN9

Polymorphism and mutation databases

BioMutaiNMNAT1
DMDMi30580491

Proteomic databases

EPDiQ9HAN9
jPOSTiQ9HAN9
MassIVEiQ9HAN9
MaxQBiQ9HAN9
PaxDbiQ9HAN9
PeptideAtlasiQ9HAN9
PRIDEiQ9HAN9
ProteomicsDBi81410

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
27787, 243 antibodies

The DNASU plasmid repository

More...
DNASUi
64802

Genome annotation databases

EnsembliENST00000377205; ENSP00000366410; ENSG00000173614
ENST00000462686; ENSP00000435134; ENSG00000173614
GeneIDi64802
KEGGihsa:64802
UCSCiuc001aqp.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64802
DisGeNETi64802
EuPathDBiHostDB:ENSG00000173614.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NMNAT1
HGNCiHGNC:17877, NMNAT1
HPAiENSG00000173614, Low tissue specificity
MalaCardsiNMNAT1
MIMi608553, phenotype
608700, gene
neXtProtiNX_Q9HAN9
OpenTargetsiENSG00000173614
Orphaneti1872, Cone rod dystrophy
65, Leber congenital amaurosis
PharmGKBiPA31660

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3199, Eukaryota
GeneTreeiENSGT00950000183179
HOGENOMiCLU_033366_3_0_1
InParanoidiQ9HAN9
KOiK06210
OMAiPAHHRVI
OrthoDBi1308027at2759
PhylomeDBiQ9HAN9
TreeFamiTF315035

Enzyme and pathway databases

UniPathwayiUPA00253;UER00332
UPA00253;UER00600
BioCyciMetaCyc:HS10701-MONOMER
BRENDAi2.7.7.1, 2681
2.7.7.18, 2681
PathwayCommonsiQ9HAN9
ReactomeiR-HSA-196807, Nicotinate metabolism
SABIO-RKiQ9HAN9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
64802, 117 hits in 875 CRISPR screens

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

More...
ChiTaRSi
NMNAT1, human
EvolutionaryTraceiQ9HAN9

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NMNAT1

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

More...
GenomeRNAii
64802
PharosiQ9HAN9, Tbio

Protein Ontology

More...
PROi
PR:Q9HAN9
RNActiQ9HAN9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000173614, Expressed in muscle of leg and 197 other tissues
ExpressionAtlasiQ9HAN9, baseline and differential
GenevisibleiQ9HAN9, HS

Family and domain databases

DisProtiDP01165
InterProiView protein in InterPro
IPR004821, Cyt_trans-like
IPR005248, NadD/NMNAT
PfamiView protein in Pfam
PF01467, CTP_transf_like, 1 hit
TIGRFAMsiTIGR00482, TIGR00482, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiNMNA1_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: Q9HAN9
Secondary accession number(s): B1AN63
, Q8TAE9, Q9H247, Q9H6B6
<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 9, 2003
Last sequence update: March 1, 2001
Last modified: October 7, 2020
This is version 175 of the entry and version 1 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, Direct protein sequencing, Reference proteome

Documents

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