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Protein

NACHT, LRR and PYD domains-containing protein 9

Gene

NLRP9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Involved in inflammation.Curated

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi152 – 1598ATPPROSITE-ProRule annotation

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
NACHT, LRR and PYD domains-containing protein 9
Alternative name(s):
Nucleotide-binding oligomerization domain protein 6
PYRIN and NACHT-containing protein 12
Gene namesi
Name:NLRP9
Synonyms:NALP9, NOD6, PAN12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:22941. NLRP9.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162398029.

Polymorphism and mutation databases

BioMutaiNLRP9.
DMDMi74762418.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 991991NACHT, LRR and PYD domains-containing protein 9PRO_0000286334Add
BLAST

Proteomic databases

EPDiQ7RTR0.
PaxDbiQ7RTR0.
PeptideAtlasiQ7RTR0.
PRIDEiQ7RTR0.

PTM databases

iPTMnetiQ7RTR0.
PhosphoSiteiQ7RTR0.

Expressioni

Gene expression databases

BgeeiQ7RTR0.
CleanExiHS_NLRP9.
GenevisibleiQ7RTR0. HS.

Organism-specific databases

HPAiHPA042623.

Interactioni

Protein-protein interaction databases

BioGridi130708. 5 interactions.
STRINGi9606.ENSP00000331857.

Structurei

3D structure databases

ProteinModelPortaliQ7RTR0.
SMRiQ7RTR0. Positions 5-91, 143-169, 587-974.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 9494PyrinPROSITE-ProRule annotationAdd
BLAST
Domaini146 – 465320NACHTPROSITE-ProRule annotationAdd
BLAST
Repeati743 – 76321LRR 1Add
BLAST
Repeati772 – 79322LRR 2Add
BLAST
Repeati800 – 82021LRR 3Add
BLAST
Repeati829 – 85022LRR 4Add
BLAST
Repeati857 – 87721LRR 5Add
BLAST
Repeati886 – 90722LRR 6Add
BLAST

Sequence similaritiesi

Belongs to the NLRP family.Curated
Contains 6 LRR (leucine-rich) repeats.Curated
Contains 1 NACHT domain.PROSITE-ProRule annotation
Contains 1 pyrin domain.PROSITE-ProRule annotation

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG4308. Eukaryota.
ENOG410ZBX3. LUCA.
GeneTreeiENSGT00840000129675.
HOGENOMiHOG000294064.
HOVERGENiHBG063656.
InParanoidiQ7RTR0.
OMAiWTYTFVF.
OrthoDBiEOG7P5T07.
PhylomeDBiQ7RTR0.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
3.40.50.300. 1 hit.
3.80.10.10. 1 hit.
InterProiIPR004020. DAPIN.
IPR011029. DEATH-like_dom.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR007111. NACHT_NTPase.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF13516. LRR_6. 3 hits.
PF02758. PYRIN. 1 hit.
[Graphical view]
SMARTiSM01289. PYRIN. 1 hit.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50824. DAPIN. 1 hit.
PS50837. NACHT. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7RTR0-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAESFFSDFG LLWYLKELRK EEFWKFKELL KQPLEKFELK PIPWAELKKA
60 70 80 90 100
SKEDVAKLLD KHYPGKQAWE VTLNLFLQIN RKDLWTKAQE EMRNKLNPYR
110 120 130 140 150
KHMKETFQLI WEKETCLHVP EHFYKETMKN EYKELNDAYT AAARRHTVVL
160 170 180 190 200
EGPDGIGKTT LLRKVMLDWA EGNLWKDRFT FVFFLNVCEM NGIAETSLLE
210 220 230 240 250
LLSRDWPESS EKIEDIFSQP ERILFIMDGF EQLKFNLQLK ADLSDDWRQR
260 270 280 290 300
QPMPIILSSL LQKKMLPESS LLIALGKLAM QKHYFMLRHP KLIKLLGFSE
310 320 330 340 350
SEKKSYFSYF FGEKSKALKV FNFVRDNGPL FILCHNPFTC WLVCTCVKQR
360 370 380 390 400
LERGEDLEIN SQNTTYLYAS FLTTVFKAGS QSFPPKVNRA RLKSLCALAA
410 420 430 440 450
EGIWTYTFVF SHGDLRRNGL SESEGVMWVG MRLLQRRGDC FAFMHLCIQE
460 470 480 490 500
FCAAMFYLLK RPKDDPNPAI GSITQLVRAS VVQPQTLLTQ VGIFMFGIST
510 520 530 540 550
EEIVSMLETS FGFPLSKDLK QEITQCLESL SQCEADREAI AFQELFIGLF
560 570 580 590 600
ETQEKEFVTK VMNFFEEVFI YIGNIEHLVI ASFCLKHCQH LTTLRMCVEN
610 620 630 640 650
IFPDDSGCIS DYNEKLVYWR ELCSMFITNK NFQILDMENT SLDDPSLAIL
660 670 680 690 700
CKALAQPVCK LRKLIFTSVY FGHDSELFKA VLHNPHLKLL SLYGTSLSQS
710 720 730 740 750
DIRHLCETLK HPMCKIEELI LGKCDISSEV CEDIASVLAC NSKLKHLSLV
760 770 780 790 800
ENPLRDEGMT LLCEALKHSH CALERLMLMY CCLTSVSCDS ISEVLLCSKS
810 820 830 840 850
LSLLDLGSNA LEDNGVASLC AALKHPGCSI RELWLMGCFL TSDSCKDIAA
860 870 880 890 900
VLICNGKLKT LKLGHNEIGD TGVRQLCAAL QHPHCKLECL GLQTCPITRA
910 920 930 940 950
CCDDIAAALI ACKTLRSLNL DWIALDADAV VVLCEALSHP DCALQMLGLH
960 970 980 990
KSGFDEETQK ILMSVEEKIP HLTISHGPWI DEEYKIRGVL L
Length:991
Mass (Da):113,312
Last modified:December 15, 2003 - v1
Checksum:iB9DD003967AB93D9
GO
Isoform 2 (identifier: Q7RTR0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     949-991: LHKSGFDEET...EEYKIRGVLL → NCQKSLGDTV...NMQRQLRLQK

Show »
Length:986
Mass (Da):112,593
Checksum:iB4248B46F70413B2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti425 – 4251G → D in a breast cancer sample; somatic mutation. 1 Publication
VAR_036386

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei949 – 99143LHKSG…RGVLL → NCQKSLGDTVAPGENHCSIK HLLLTLPINMQRQLRLQK in isoform 2. 1 PublicationVSP_025021Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY154464 mRNA. Translation: AAO18160.1.
CH471135 Genomic DNA. Translation: EAW72412.1.
BC136583 mRNA. Translation: AAI36584.1.
BK001114 mRNA. Translation: DAA01247.1.
CCDSiCCDS12934.1. [Q7RTR0-1]
RefSeqiNP_789790.2. NM_176820.3. [Q7RTR0-1]
XP_011525195.1. XM_011526893.1. [Q7RTR0-1]
UniGeneiHs.661568.

Genome annotation databases

EnsembliENST00000332836; ENSP00000331857; ENSG00000185792. [Q7RTR0-1]
ENST00000590200; ENSP00000465253; ENSG00000185792. [Q7RTR0-2]
GeneIDi338321.
KEGGihsa:338321.
UCSCiuc002qly.3. human. [Q7RTR0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY154464 mRNA. Translation: AAO18160.1.
CH471135 Genomic DNA. Translation: EAW72412.1.
BC136583 mRNA. Translation: AAI36584.1.
BK001114 mRNA. Translation: DAA01247.1.
CCDSiCCDS12934.1. [Q7RTR0-1]
RefSeqiNP_789790.2. NM_176820.3. [Q7RTR0-1]
XP_011525195.1. XM_011526893.1. [Q7RTR0-1]
UniGeneiHs.661568.

3D structure databases

ProteinModelPortaliQ7RTR0.
SMRiQ7RTR0. Positions 5-91, 143-169, 587-974.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130708. 5 interactions.
STRINGi9606.ENSP00000331857.

PTM databases

iPTMnetiQ7RTR0.
PhosphoSiteiQ7RTR0.

Polymorphism and mutation databases

BioMutaiNLRP9.
DMDMi74762418.

Proteomic databases

EPDiQ7RTR0.
PaxDbiQ7RTR0.
PeptideAtlasiQ7RTR0.
PRIDEiQ7RTR0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332836; ENSP00000331857; ENSG00000185792. [Q7RTR0-1]
ENST00000590200; ENSP00000465253; ENSG00000185792. [Q7RTR0-2]
GeneIDi338321.
KEGGihsa:338321.
UCSCiuc002qly.3. human. [Q7RTR0-1]

Organism-specific databases

CTDi338321.
GeneCardsiNLRP9.
H-InvDBHIX0040053.
HGNCiHGNC:22941. NLRP9.
HPAiHPA042623.
MIMi609663. gene.
neXtProtiNX_Q7RTR0.
PharmGKBiPA162398029.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4308. Eukaryota.
ENOG410ZBX3. LUCA.
GeneTreeiENSGT00840000129675.
HOGENOMiHOG000294064.
HOVERGENiHBG063656.
InParanoidiQ7RTR0.
OMAiWTYTFVF.
OrthoDBiEOG7P5T07.
PhylomeDBiQ7RTR0.

Miscellaneous databases

GeneWikiiNLRP9.
GenomeRNAii338321.
PROiQ7RTR0.
SOURCEiSearch...

Gene expression databases

BgeeiQ7RTR0.
CleanExiHS_NLRP9.
GenevisibleiQ7RTR0. HS.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
3.40.50.300. 1 hit.
3.80.10.10. 1 hit.
InterProiIPR004020. DAPIN.
IPR011029. DEATH-like_dom.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR007111. NACHT_NTPase.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF13516. LRR_6. 3 hits.
PF02758. PYRIN. 1 hit.
[Graphical view]
SMARTiSM01289. PYRIN. 1 hit.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50824. DAPIN. 1 hit.
PS50837. NACHT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "NALPs: a novel protein family involved in inflammation."
    Tschopp J., Martinon F., Burns K.
    Nat. Rev. Mol. Cell Biol. 4:95-104(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "NODs: intracellular proteins involved in inflammation and apoptosis."
    Inohara N., Nunez G.
    Nat. Rev. Immunol. 3:371-382(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION [MRNA] (ISOFORM 1).
  5. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASP-425.

Entry informationi

Entry nameiNALP9_HUMAN
AccessioniPrimary (citable) accession number: Q7RTR0
Secondary accession number(s): B2RN12, Q86W27
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: December 15, 2003
Last modified: July 6, 2016
This is version 117 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.