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UniProtKB/Swiss-Prot Q6XQN6 (PNCB_HUMAN)
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November 3, 2009.
Version 39.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Nicotinate phosphoribosyltransferase Short name=NAPRTase EC=2.4.2.11 Alternative name(s): Nicotinate phosphoribosyltransferase domain-containing protein 1 FHA-HIT-interacting protein | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 538 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Catalyzes the conversion of nicotinic acid (NA) to NA mononucleotide (NaMN). Essential for NA to increase cellular NAD levels and prevent oxidative stress of the cells. Ref.1 |
| Catalytic activity | Nicotinate D-ribonucleotide + diphosphate = nicotinate + 5-phospho-alpha-D-ribose 1-diphosphate. |
| Pathway | Cofactor biosynthesis; NAD(+) biosynthesis; nicotinate D-ribonucleotide from nicotinate: step 1/1. |
| Subcellular location | |
| Sequence similarities | Belongs to the NAPRTase family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Pyridine nucleotide biosynthesis |
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Molecular function | Glycosyltransferase Transferase |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | NAD metabolic process Inferred from Experiment. Source: Reactome pyridine nucleotide biosynthetic processInferred from electronic annotation. Source: UniProtKB-KW response to oxidative stress Ref.1Inferred from mutant phenotype. Source: UniProtKB |
| Cellular component | cytosol Ref.1 Inferred from direct assay. Source: UniProtKB |
| Molecular function | nicotinate phosphoribosyltransferase activity Ref.1 Inferred from direct assay. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6XQN6-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q6XQN6-2) The sequence of this isoform differs from the canonical sequence as follows: 517-517: Y → YQVGGGGPPCHSALCAPALTLPTAPVLCSL | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q6XQN6-3) The sequence of this isoform differs from the canonical sequence as follows: 469-481: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 538 | 538 | Nicotinate phosphoribosyltransferase | PRO_0000315681 | |||||
Amino acid modifications | |||||||||
| Modified residue | 537 | 1 | Phosphoserine Ref.4 Ref.5 Ref.6 | ||||||
Natural variations | |||||||||
| Alternative sequence | 469 – 481 | 13 | Missing in isoform 3. | VSP_030610 | |||||
| Alternative sequence | 517 | 1 | Y → YQVGGGGPPCHSALCAPALT LPTAPVLCSL in isoform 2. | VSP_030612 | |||||
| Natural variant | 57 | 1 | A → V: dbSNP rs896950. | VAR_038275 | |||||
Experimental info | |||||||||
| Sequence conflict | 155 | 1 | L → V in AAP69603. Ref.2 | ||||||
| Sequence conflict | 155 | 1 | L → V in AAP69604. Ref.2 | ||||||
| Sequence conflict | 155 | 1 | L → V in AAP69605. Ref.2 | ||||||
| Sequence conflict | 224 | 1 | V → A in BAF75377. Ref.1 | ||||||
| Sequence conflict | 246 | 1 | A → T in BAF75377. Ref.1 | ||||||
| Sequence conflict | 375 | 1 | V → A in BAF75377. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Elevation of cellular NAD levels by nicotinic acid and involvement of nicotinic acid phosphoribosyltransferase in human cells." Hara N., Yamada K., Shibata T., Osago H., Hashimoto T., Tsuchiya M. J. Biol. Chem. 282:24574-24582(2007) [PubMed: 17604275] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION. |
| [2] | "Identification of nicotinate phosphoribosyltransferase as a novel FHA-HIT interaction protein (FHIP)." Huang C.-H., Chen H., Chen Y. Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3). |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta. |
| [4] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-537, MASS SPECTROMETRY. Tissue: Epithelium. |
| [5] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-537, MASS SPECTROMETRY. Tissue: Epithelium. |
| [6] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-537, MASS SPECTROMETRY. |
| [7] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AB242230 mRNA. Translation: BAF75377.1. AY214325 mRNA. Translation: AAP69603.1. AY214326 mRNA. Translation: AAP69604.1. AY214327 mRNA. Translation: AAP69605.1. BC006284 mRNA. Translation: AAH06284.2. Different initiation. BC032466 mRNA. Translation: AAH32466.1. Different initiation. | |
| IPI | IPI00465085. IPI00879716. IPI00880164. |
| RefSeq | NP_660202.3. |
| UniGene | Hs.493164 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q6XQN6. |
PTM databases | |
| PhosphoSite | Q6XQN6. |
Proteomic databases | |
| PRIDE | Q6XQN6. |
Genome annotation databases | |
| Ensembl | ENST00000276844; ENSP00000276844; ENSG00000147813; Homo sapiens. [Genome view] ENST00000340490; ENSP00000341136; ENSG00000147813; Homo sapiens. [Genome view] ENST00000426292; ENSP00000390949; ENSG00000147813; Homo sapiens. [Genome view] ENST00000435154; ENSP00000405670; ENSG00000147813; Homo sapiens. [Genome view] ENST00000444928; ENSP00000391191; ENSG00000147813; Homo sapiens. [Genome view] ENST00000449291; ENSP00000401508; ENSG00000147813; Homo sapiens. [Genome view] |
| GeneID | 93100. |
| KEGG | hsa:93100. |
| UCSC | uc003yyl.1. human. uc003yym.2. human. uc003yyn.2. human. |
Organism-specific databases | |
| CTD | 93100. |
| GeneCards | GC08M144730. |
| HGNC | HGNC:30450. NAPRT1. |
| MIM | 611552. gene. |
| PharmGKB | PA142671293. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q6XQN6. |
| HOVERGEN | Q6XQN6. |
Enzyme and pathway databases | |
| BRENDA | 2.4.2.11. 247. |
| Reactome | REACT_11193. Metabolism of vitamins and cofactors. |
Gene expression databases | |
| ArrayExpress | Q6XQN6. |
| Bgee | Q6XQN6. |
| CleanEx | HS_NAPRT1. |
| Genevestigator | Q6XQN6. |
Family and domain databases | |
| InterPro | IPR015977. Nic_PRibTrfase-like. IPR006405. Nic_PRibTrfase_put. [Graphical view] |
| Pfam | PF04095. NAPRTase. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR01513. NAPRTase_put. 1 hit. |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 77980. |
| SOURCE | Search... |
Entry information
| Entry name | PNCB_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6XQN6 Secondary accession number(s): A7BFI3  Q9BRG0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 8 Human chromosome 8: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| 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 |
| SIMILARITY comments Index of protein domains and families |
