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Q8IXQ6 (PARP9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 78. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Poly [ADP-ribose] polymerase 9

Short name=PARP-9
EC=2.4.2.30
Alternative name(s):
B aggressive lymphoma protein
Gene names
Name:PARP9
Synonyms:BAL
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length854 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Cytoplasmcytosol. 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 componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   LigandNAD
   Molecular functionTransferase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological processcell migration

Traceable author statement Ref.1. Source: UniProtKB

   Cellular componentcytosol

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from direct assay Ref.6. Source: UniProtKB

   Molecular functionNAD+ ADP-ribosyltransferase activity

Inferred from electronic annotation. Source: EC

protein binding

Inferred 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 854854Poly [ADP-ribose] polymerase 9
PRO_0000211339

Regions

Domain107 – 296190Macro 1
Domain306 – 487182Macro 2
Domain628 – 850223PARP catalytic

Natural variations

Alternative sequence17 – 5135Missing in isoform 2.
VSP_008505
Natural variant211S → L.
Corresponds to variant rs34006803 [ dbSNP | Ensembl ].
VAR_056654
Natural variant5171I → V.
Corresponds to variant rs28365795 [ dbSNP | Ensembl ].
VAR_056655
Natural variant5281Y → C. Ref.1 Ref.2
Corresponds to variant rs9851180 [ dbSNP | Ensembl ].
VAR_056656
Natural variant6511T → A.
Corresponds to variant rs6780543 [ dbSNP | Ensembl ].
VAR_056657

Experimental info

Sequence conflict4871S → P in BAF85648. Ref.2
Sequence conflict8391F → S in BAG36276. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) (L) [UniParc].

Last modified October 10, 2003. Version 2.
Checksum: CBBB3B4B7CA1CDA4

FASTA85496,343
        10         20         30         40         50         60 
MDFSMVAGAA AYNEKSGRIT SLSLLFQKVF AQIFPQWRKG NTEECLPYKC SETGALGENY 

        70         80         90        100        110        120 
SWQIPINHND FKILKNNERQ LCEVLQNKFG CISTLVSPVQ EGNSKSLQVF RKMLTPRIEL 

       130        140        150        160        170        180 
SVWKDDLTTH AVDAVVNAAN EDLLHGGGLA LALVKAGGFE IQEESKQFVA RYGKVSAGEI 

       190        200        210        220        230        240 
AVTGAGRLPC KQIIHAVGPR WMEWDKQGCT GKLQRAIVSI LNYVIYKNTH IKTVAIPALS 

       250        260        270        280        290        300 
SGIFQFPLNL CTKTIVETIR VSLQGKPMMS NLKEIHLVSN EDPTVAAFKA ASEFILGKSE 

       310        320        330        340        350        360 
LGQETTPSFN AMVVNNLTLQ IVQGHIEWQT ADVIVNSVNP HDITVGPVAK SILQQAGVEM 

       370        380        390        400        410        420 
KSEFLATKAK QFQRSQLVLV TKGFNLFCKY IYHVLWHSEF PKPQILKHAM KECLEKCIEQ 

       430        440        450        460        470        480 
NITSISFPAL GTGNMEIKKE TAAEILFDEV LTFAKDHVKH QLTVKFVIFP TDLEIYKAFS 

       490        500        510        520        530        540 
SEMAKRSKML SLNNYSVPQS TREEKRENGL EARSPAINLM GFNVEEMYEA HAWIQRILSL 

       550        560        570        580        590        600 
QNHHIIENNH ILYLGRKEHD ILSQLQKTSS VSITEIISPG RTELEIEGAR ADLIEVVMNI 

       610        620        630        640        650        660 
EDMLCKVQEE MARKKERGLW RSLGQWTIQQ QKTQDEMKEN IIFLKCPVPP TQELLDQKKQ 

       670        680        690        700        710        720 
FEKCGLQVLK VEKIDNEVLM AAFQRKKKMM EEKLHRQPVS HRLFQQVPYQ FCNVVCRVGF 

       730        740        750        760        770        780 
QRMYSTPCDP KYGAGIYFTK NLKNLAEKAK KISAADKLIY VFEAEVLTGF FCQGHPLNIV 

       790        800        810        820        830        840 
PPPLSPGAID GHDSVVDNVS SPETFVIFSG MQAIPQYLWT CTQEYVQSQD YSSGPMRPFA 

       850 
QHPWRGFASG SPVD 

« Hide

Isoform 2 (Short) (S) [UniParc].

Checksum: 110B81666B857940
Show »

FASTA81992,271

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.
IPIIPI00027803.
IPI00377267.
RefSeqNP_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.
UniGeneHs.518200.

3D structure databases

ProteinModelPortalQ8IXQ6.
SMRQ8IXQ6. Positions 5-57, 109-296, 310-487, 640-823.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ8IXQ6.

PTM databases

PhosphoSiteQ8IXQ6.

Polymorphism databases

DMDM48474734.

Proteomic databases

PRIDEQ8IXQ6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000360356; ENSP00000353512; ENSG00000138496.
ENST00000452457; ENSP00000393518; ENSG00000138496.
ENST00000471785; ENSP00000419001; ENSG00000138496.
ENST00000477522; ENSP00000419506; ENSG00000138496.
GeneID83666.
KEGGhsa:83666.
UCSCuc003eff.2. human.
uc003efh.1. human.

Organism-specific databases

CTD83666.
GeneCardsGC03M122246.
HGNCHGNC:24118. PARP9.
MIM612065. gene.
neXtProtNX_Q8IXQ6.
PharmGKBPA134870403.
GenAtlasSearch...

Phylogenomic databases

GeneTreeENSGT00600000084200.
HOGENOMHBG282503.
HOVERGENHBG045406.
InParanoidQ8IXQ6.
OMASSGIFQF.
OrthoDBEOG447FT7.
PhylomeDBQ8IXQ6.

Gene expression databases

ArrayExpressQ8IXQ6.
BgeeQ8IXQ6.
CleanExHS_PARP9.
GenevestigatorQ8IXQ6.
GermOnlineENSG00000138496. Homo sapiens.

Family and domain databases

InterProIPR002589. A1pp.
IPR012317. Poly(ADP-ribose)pol_cat_dom.
[Graphical view]
KOK15260.
PfamPF01661. Macro. 2 hits.
[Graphical view]
SMARTSM00506. A1pp. 2 hits.
[Graphical view]
PROSITEPS51154. MACRO. 2 hits.
PS51059. PARP_CATALYTIC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio72639.
SOURCESearch...

Entry information

Entry namePARP9_HUMAN
AccessionPrimary (citable) accession number: Q8IXQ6
Secondary accession number(s): A8KA94 expand/collapse secondary AC list , B2R8S9, Q8TCP3, Q9BZL8, Q9BZL9
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: October 10, 2003
Last modified: January 25, 2012
This is version 78 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

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