Q8IXQ6 (PARP9_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 78.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Poly [ADP-ribose] polymerase 9 Short name=PARP-9 EC=2.4.2.30 Alternative name(s): B aggressive lymphoma protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 854 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Involved in inducing the expression of IFN-gamma-responsive genes. Ref.6 |
| Catalytic activity | NAD+ + (ADP-D-ribosyl)(n)-acceptor = nicotinamide + (ADP-D-ribosyl)(n+1)-acceptor. |
| Subunit structure | Interacts with DTX3L. Ref.5 |
| Subcellular location | Cytoplasm › cytosol. Nucleus. Note: Shuttles between the nucleus and the cytosol. Export to the cytosol depends on the interaction with DTX3L. Ref.1 Ref.6 |
| Tissue specificity | Expressed in lymphocyte-rich tissues, spleen, lymph nodes, peripheral blood lymphocytes and colonic mucosa. Also expressed in nonhematopoietic tissues such as heart and skeletal muscle. Isoform 2 is the predominant form. Most abundantly expressed in lymphomas with a brisk host inflammatory response. In diffuse large B-cell lymphomas tumors, expressed specifically by malignant B-cells. Ref.1 Ref.6 |
| Induction | Up-regulated by IFN-gamma in B-cell lymphoma cell lines. Ref.6 |
| Involvement in disease | Note=Overexpressed at significantly higher levels in fatal high-risk diffuse large B-cell lymphomas (DLB-CL) compared to cured low-risk tumors. Overexpression in B-cell lymphoma transfectants may promote malignant B-cell migration. May therefore be involved in promoting B-cell migration and dissemination of high-risk DLB-CL tumors. |
| Sequence similarities | Contains 2 Macro domains. Contains 1 PARP catalytic domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
| Ligand | NAD |
| Molecular function | Transferase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | cell migration Traceable author statement Ref.1. Source: UniProtKB |
| Cellular component | cytosol Inferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from direct assay Ref.6. Source: UniProtKB |
| Molecular function | NAD+ ADP-ribosyltransferase activity Inferred from electronic annotation. Source: EC protein bindingInferred from physical interaction Ref.6. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8IXQ6-1) Also known as: Long; L; 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: Q8IXQ6-2) Also known as: Short; S; The sequence of this isoform differs from the canonical sequence as follows: 17-51: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 854 | 854 | Poly [ADP-ribose] polymerase 9 | PRO_0000211339 | |||||
Regions | |||||||||
| Domain | 107 – 296 | 190 | Macro 1 | ||||||
| Domain | 306 – 487 | 182 | Macro 2 | ||||||
| Domain | 628 – 850 | 223 | PARP catalytic | ||||||
Natural variations | |||||||||
| Alternative sequence | 17 – 51 | 35 | Missing in isoform 2. | VSP_008505 | |||||
| Natural variant | 21 | 1 | S → L. Corresponds to variant rs34006803 [ dbSNP | Ensembl ]. | VAR_056654 | |||||
| Natural variant | 517 | 1 | I → V. Corresponds to variant rs28365795 [ dbSNP | Ensembl ]. | VAR_056655 | |||||
| Natural variant | 528 | 1 | Y → C. Ref.1 Ref.2 Corresponds to variant rs9851180 [ dbSNP | Ensembl ]. | VAR_056656 | |||||
| Natural variant | 651 | 1 | T → A. Corresponds to variant rs6780543 [ dbSNP | Ensembl ]. | VAR_056657 | |||||
Experimental info | |||||||||
| Sequence conflict | 487 | 1 | S → P in BAF85648. Ref.2 | ||||||
| Sequence conflict | 839 | 1 | F → S in BAG36276. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "BAL is a novel risk-related gene in diffuse large B-cell lymphomas that enhances cellular migration." Aguiar R.C.T., Yakushijin Y., Kharbanda S., Salgia R., Fletcher J.A., Shipp M.A. Blood 96:4328-4334(2000) [PubMed: 11110709] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT CYS-528. Tissue: B-cell. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT CYS-528. Tissue: Trachea and Umbilical cord blood. |
| [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 2). Tissue: Mammary gland. |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 525-854. Tissue: Amygdala. |
| [5] | "The BAL-binding protein BBAP and related Deltex family members exhibit ubiquitin-protein isopeptide ligase activity." Takeyama K., Aguiar R.C.T., Gu L., He C., Freeman G.J., Kutok J.L., Aster J.C., Shipp M.A. J. Biol. Chem. 278:21930-21937(2003) [PubMed: 12670957] [Abstract] Cited for: INTERACTION WITH DTX3L. |
| [6] | "BAL1 and BBAP are regulated by a gamma interferon-responsive bidirectional promoter and are overexpressed in diffuse large B-cell lymphomas with a prominent inflammatory infiltrate." Juszczynski P., Kutok J.L., Li C., Mitra J., Aguiar R.C.T., Shipp M.A. Mol. Cell. Biol. 26:5348-5359(2006) [PubMed: 16809771] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF307338 mRNA. Translation: AAK07558.1. AF307339 mRNA. Translation: AAK07559.1. AK292959 mRNA. Translation: BAF85648.1. AK313494 mRNA. Translation: BAG36276.1. BC039580 mRNA. Translation: AAH39580.1. AL713679 mRNA. Translation: CAD28483.1. |
| IPI | IPI00027803. IPI00377267. |
| RefSeq | NP_001139574.1. NM_001146102.1. NP_001139575.1. NM_001146103.1. NP_001139576.1. NM_001146104.1. NP_001139577.1. NM_001146105.1. NP_113646.2. NM_031458.2. |
| UniGene | Hs.518200. |
3D structure databases | |
| ProteinModelPortal | Q8IXQ6. |
| SMR | Q8IXQ6. Positions 5-57, 109-296, 310-487, 640-823. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q8IXQ6. |
PTM databases | |
| PhosphoSite | Q8IXQ6. |
Polymorphism databases | |
| DMDM | 48474734. |
Proteomic databases | |
| PRIDE | Q8IXQ6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000360356; ENSP00000353512; ENSG00000138496. ENST00000452457; ENSP00000393518; ENSG00000138496. ENST00000471785; ENSP00000419001; ENSG00000138496. ENST00000477522; ENSP00000419506; ENSG00000138496. |
| GeneID | 83666. |
| KEGG | hsa:83666. |
| UCSC | uc003eff.2. human. uc003efh.1. human. |
Organism-specific databases | |
| CTD | 83666. |
| GeneCards | GC03M122246. |
| HGNC | HGNC:24118. PARP9. |
| MIM | 612065. gene. |
| neXtProt | NX_Q8IXQ6. |
| PharmGKB | PA134870403. |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00600000084200. |
| HOGENOM | HBG282503. |
| HOVERGEN | HBG045406. |
| InParanoid | Q8IXQ6. |
| OMA | SSGIFQF. |
| OrthoDB | EOG447FT7. |
| PhylomeDB | Q8IXQ6. |
Gene expression databases | |
| ArrayExpress | Q8IXQ6. |
| Bgee | Q8IXQ6. |
| CleanEx | HS_PARP9. |
| Genevestigator | Q8IXQ6. |
| GermOnline | ENSG00000138496. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002589. A1pp. IPR012317. Poly(ADP-ribose)pol_cat_dom. [Graphical view] |
| KO | K15260. |
| Pfam | PF01661. Macro. 2 hits. [Graphical view] |
| SMART | SM00506. A1pp. 2 hits. [Graphical view] |
| PROSITE | PS51154. MACRO. 2 hits. PS51059. PARP_CATALYTIC. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 72639. |
| SOURCE | Search... |
Entry information
| Entry name | PARP9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IXQ6 Secondary accession number(s): A8KA94 Q9BZL9 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with