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Protein

NACHT, LRR and PYD domains-containing protein 8

Gene

NLRP8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Involved in inflammation.Curated

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi210 – 2178ATPPROSITE-ProRule annotation

GO - Molecular functioni

GO - Biological processi

  • neuron death Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
NACHT, LRR and PYD domains-containing protein 8
Alternative name(s):
Nucleotide-binding oligomerization domain protein 16
PYRIN and NACHT-containing protein 4
Gene namesi
Name:NLRP8
Synonyms:NALP8, NOD16, PAN4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:22940. NLRP8.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162398028.

Polymorphism and mutation databases

BioMutaiNLRP8.
DMDMi143355070.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10481048NACHT, LRR and PYD domains-containing protein 8PRO_0000282990Add
BLAST

Proteomic databases

PaxDbiQ86W28.
PeptideAtlasiQ86W28.
PRIDEiQ86W28.

PTM databases

iPTMnetiQ86W28.
PhosphoSiteiQ86W28.

Expressioni

Gene expression databases

BgeeiQ86W28.
CleanExiHS_NLRP8.
GenevisibleiQ86W28. HS.

Organism-specific databases

HPAiHPA056989.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000291971.

Structurei

3D structure databases

ProteinModelPortaliQ86W28.
SMRiQ86W28. Positions 40-120, 693-1005.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini33 – 13199PyrinPROSITE-ProRule annotationAdd
BLAST
Domaini204 – 527324NACHTPROSITE-ProRule annotationAdd
BLAST
Repeati815 – 83824LRR 2Add
BLAST
Repeati839 – 86123LRR 3Add
BLAST
Repeati866 – 89025LRR 4Add
BLAST
Repeati923 – 95028LRR 5Add
BLAST
Repeati980 – 100728LRR 6Add
BLAST

Sequence similaritiesi

Belongs to the NLRP family.Curated
Contains 5 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

eggNOGiENOG410IJVQ. Eukaryota.
ENOG410Y5EC. LUCA.
GeneTreeiENSGT00840000129675.
HOGENOMiHOG000294064.
HOVERGENiHBG100536.
InParanoidiQ86W28.
OMAiRIGNNKE.
OrthoDBiEOG7P5T07.
PhylomeDBiQ86W28.

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: Q86W28-1) [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
MSDVNPPSDT PIPFSSSSTH SSHIPPWTFS CYPGSPCENG VMLYMRNVSH
60 70 80 90 100
EELQRFKQLL LTELSTGTMP ITWDQVETAS WAEVVHLLIE RFPGRRAWDV
110 120 130 140 150
TSNIFAIMNC DKMCVVVRRE INAILPTLEP EDLNVGETQV NLEEGESGKI
160 170 180 190 200
RRYKSNVMEK FFPIWDITTW PGNQRDFFYQ GVHRHEEYLP CLLLPKRPQG
210 220 230 240 250
RQPKTVAIQG APGIGKTILA KKVMFEWARN KFYAHKRWCA FYFHCQEVNQ
260 270 280 290 300
TTDQSFSELI EQKWPGSQDL VSKIMSKPDQ LLLLLDGFEE LTSTLIDRLE
310 320 330 340 350
DLSEDWRQKL PGSVLLSSLL SKTMLPEATL LIMIRFTSWQ TCKPLLKCPS
360 370 380 390 400
LVTLPGFNTM EKIKYFQMYF GHTEEGDQVL SFAMENTILF SMCRVPVVCW
410 420 430 440 450
MVCSGLKQQM ERGNNLTQSC PNATSVFVRY ISSLFPTRAE NFSRKIHQAQ
460 470 480 490 500
LEGLCHLAAD SMWHRKWVLG KEDLEEAKLD QTGVTAFLGM SILRRIAGEE
510 520 530 540 550
DHYVFTLVTF QEFFAALFYV LCFPQRLKNF HVLSHVNIQR LIASPRGSKS
560 570 580 590 600
YLSHMGLFLF GFLNEACASA VEQSFQCKVS FGNKRKLLKV IPLLHKCDPP
610 620 630 640 650
SPGSGVPQLF YCLHEIREEA FVSQALNDYH KVVLRIGNNK EVQVSAFCLK
660 670 680 690 700
RCQYLHEVEL TVTLNFMNVW KLSSSSHPGS EAPESNGLHR WWQDLCSVFA
710 720 730 740 750
TNDKLEVLTM TNSVLGPPFL KALAAALRHP QCKLQKLLLR RVNSTMLNQD
760 770 780 790 800
LIGVLTGNQH LRYLEIQHVE VESKAVKLLC RVLRSPRCRL QCLRLEDCLA
810 820 830 840 850
TPRIWTDLGN NLQGNGHLKT LILRKNSLEN CGAYYLSVAQ LERLSIENCN
860 870 880 890 900
LTQLTCESLA SCLRQSKMLT HLSLAENALK DEGAKHIWNA LPHLRCPLQR
910 920 930 940 950
LVLRKCDLTF NCCQDMISAL CKNKTLKSLD LSFNSLKDDG VILLCEALKN
960 970 980 990 1000
PDCTLQILEL ENCLFTSICC QAMASMLRKN QHLRHLDLSK NAIGVYGILT
1010 1020 1030 1040
LCEAFSSQKK REEVIFCIPA WTRITSFSPT PHPPDFTGKS DCLSQINP
Length:1,048
Mass (Da):119,430
Last modified:April 3, 2007 - v2
Checksum:iBE429B78960FF746
GO
Isoform 2 (identifier: Q86W28-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     846-864: Missing.

Note: No experimental confirmation available.
Show »
Length:1,029
Mass (Da):117,336
Checksum:i7F8CEC14577303BA
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251P → L.
Corresponds to variant rs306507 [ dbSNP | Ensembl ].
VAR_031452
Natural varianti116 – 1161V → L.
Corresponds to variant rs306506 [ dbSNP | Ensembl ].
VAR_031453
Natural varianti126 – 1261P → R in a breast cancer sample; somatic mutation. 1 Publication
Corresponds to variant rs61739987 [ dbSNP | Ensembl ].
VAR_036383
Natural varianti234 – 2341A → T.
Corresponds to variant rs11880691 [ dbSNP | Ensembl ].
VAR_031454
Natural varianti268 – 2681Q → R.
Corresponds to variant rs7259764 [ dbSNP | Ensembl ].
VAR_031455
Natural varianti367 – 3671Q → E.
Corresponds to variant rs11880748 [ dbSNP | Ensembl ].
VAR_031456
Natural varianti375 – 3751E → V in a breast cancer sample; somatic mutation. 1 Publication
VAR_036384
Natural varianti543 – 5431A → V.
Corresponds to variant rs41391053 [ dbSNP | Ensembl ].
VAR_053618
Natural varianti651 – 6511R → W.
Corresponds to variant rs41481648 [ dbSNP | Ensembl ].
VAR_053619
Natural varianti782 – 7821V → A.
Corresponds to variant rs306496 [ dbSNP | Ensembl ].
VAR_031457
Natural varianti937 – 9371K → R.
Corresponds to variant rs306481 [ dbSNP | Ensembl ].
VAR_031458
Natural varianti1045 – 10451Q → L in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036385

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei846 – 86419Missing in isoform 2. 1 PublicationVSP_024274Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY154463 mRNA. Translation: AAO18159.1.
BK001109 mRNA. Translation: DAA01242.1.
CCDSiCCDS12937.1. [Q86W28-1]
RefSeqiNP_001303929.1. NM_001317000.1. [Q86W28-2]
NP_789781.2. NM_176811.2. [Q86W28-1]
UniGeneiHs.446925.

Genome annotation databases

EnsembliENST00000291971; ENSP00000291971; ENSG00000179709. [Q86W28-1]
ENST00000590542; ENSP00000468121; ENSG00000179709. [Q86W28-2]
GeneIDi126205.
KEGGihsa:126205.
UCSCiuc002qmh.3. human. [Q86W28-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY154463 mRNA. Translation: AAO18159.1.
BK001109 mRNA. Translation: DAA01242.1.
CCDSiCCDS12937.1. [Q86W28-1]
RefSeqiNP_001303929.1. NM_001317000.1. [Q86W28-2]
NP_789781.2. NM_176811.2. [Q86W28-1]
UniGeneiHs.446925.

3D structure databases

ProteinModelPortaliQ86W28.
SMRiQ86W28. Positions 40-120, 693-1005.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000291971.

PTM databases

iPTMnetiQ86W28.
PhosphoSiteiQ86W28.

Polymorphism and mutation databases

BioMutaiNLRP8.
DMDMi143355070.

Proteomic databases

PaxDbiQ86W28.
PeptideAtlasiQ86W28.
PRIDEiQ86W28.

Protocols and materials databases

DNASUi126205.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000291971; ENSP00000291971; ENSG00000179709. [Q86W28-1]
ENST00000590542; ENSP00000468121; ENSG00000179709. [Q86W28-2]
GeneIDi126205.
KEGGihsa:126205.
UCSCiuc002qmh.3. human. [Q86W28-1]

Organism-specific databases

CTDi126205.
GeneCardsiNLRP8.
H-InvDBHIX0040052.
HGNCiHGNC:22940. NLRP8.
HPAiHPA056989.
MIMi609659. gene.
neXtProtiNX_Q86W28.
PharmGKBiPA162398028.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJVQ. Eukaryota.
ENOG410Y5EC. LUCA.
GeneTreeiENSGT00840000129675.
HOGENOMiHOG000294064.
HOVERGENiHBG100536.
InParanoidiQ86W28.
OMAiRIGNNKE.
OrthoDBiEOG7P5T07.
PhylomeDBiQ86W28.

Miscellaneous databases

GeneWikiiNLRP8.
GenomeRNAii126205.
PROiQ86W28.
SOURCEiSearch...

Gene expression databases

BgeeiQ86W28.
CleanExiHS_NLRP8.
GenevisibleiQ86W28. 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. "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).
  3. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-126; VAL-375 AND LEU-1045.

Entry informationi

Entry nameiNALP8_HUMAN
AccessioniPrimary (citable) accession number: Q86W28
Secondary accession number(s): Q7RTR4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: April 3, 2007
Last modified: July 6, 2016
This is version 114 of the entry and version 2 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.