P59044 (NALP6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NACHT, LRR and PYD domains-containing protein 6

Alternative name(s):
PYRIN-containing APAF1-like protein 5

Gene names

Name:	NLRP6
Synonyms:	NALP6, PYPAF5

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	892 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B. Ref.5
Subunit structure	Binds to ASC with its DAPIN domain.
Subcellular location	Cytoplasm.
Tissue specificity	Highly expressed in granulocytes. Detected at much lower levels in T-cells.
Sequence similarities	Belongs to the NLRP family. Contains 1 DAPIN domain. Contains 5 LRR (leucine-rich) repeats. Contains 1 NACHT domain.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Domain	Leucine-rich repeat Repeat
Ligand	ATP-binding Nucleotide-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 892	892	NACHT, LRR and PYD domains-containing protein 6		PRO_0000080892
Regions
	Domain	1 – 103	103	DAPIN
	Domain	196 – 513	318	NACHT
	Repeat	462 – 487	26	LRR 1
	Repeat	727 – 747	21	LRR 2
	Repeat	755 – 778	24	LRR 3
	Repeat	811 – 834	24	LRR 4
	Repeat	845 – 868	24	LRR 5
	Nucleotide binding	202 – 209	8	ATP Potential
	Compositional bias	604 – 614	11	Poly-Glu
Natural variations
	Natural variant	163	1	M → L. Ref.1 Ref.2 Ref.3 Corresponds to variant rs6421985 [ dbSNP | Ensembl ].		VAR_058968
	Natural variant	361	1	Y → F. Ref.1 Ref.2 Ref.3 Corresponds to variant rs56159585 [ dbSNP | Ensembl ].		VAR_058969
Experimental info
	Sequence conflict	704	1	Missing in BAF85357. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P59044 [UniParc]. Last modified September 22, 2009. Version 2. Checksum: A987FDACE6448C6A	FASTA	892	98,768
	10 20 30 40 50 60 MDQPEAPCSS TGPRLAVARE LLLAALEELS QEQLKRFRHK LRDVGPDGRS IPWGRLERAD 70 80 90 100 110 120 AVDLAEQLAQ FYGPEPALEV ARKTLKRADA RDVAAQLQER RLQRLGLGSG TLLSVSEYKK 130 140 150 160 170 180 KYREHVLQLH ARVKERNARS VKITKRFTKL LIAPESAAPE EAMGPAEEPE PGRARRSDTH 190 200 210 220 230 240 TFNRLFRRDE EGRRPLTVVL QGPAGIGKTM AAKKILYDWA AGKLYQGQVD FAFFMPCGEL 250 260 270 280 290 300 LERPGTRSLA DLILDQCPDR GAPVPQMLAQ PQRLLFILDG ADELPALGGP EAAPCTDPFE 310 320 330 340 350 360 AASGARVLGG LLSKALLPTA LLLVTTRAAA PGRLQGRLCS PQCAEVRGFS DKDKKKYFYK 370 380 390 400 410 420 YFRDERRAER AYRFVKENET LFALCFVPFV CWIVCTVLRQ QLELGRDLSR TSKTTTSVYL 430 440 450 460 470 480 LFITSVLSSA PVADGPRLQG DLRNLCRLAR EGVLGRRAQF AEKELEQLEL RGSKVQTLFL 490 500 510 520 530 540 SKKELPGVLE TEVTYQFIDQ SFQEFLAALS YLLEDGGVPR TAAGGVGTLL RGDAQPHSHL 550 560 570 580 590 600 VLTTRFLFGL LSAERMRDIE RHFGCMVSER VKQEALRWVQ GQGQGCPGVA PEVTEGAKGL 610 620 630 640 650 660 EDTEEPEEEE EGEEPNYPLE LLYCLYETQE DAFVRQALCR FPELALQRVR FCRMDVAVLS 670 680 690 700 710 720 YCVRCCPAGQ ALRLISCRLV AAQEKKKKSL GKRLQASLGG GSSSQGTTKQ LPASLLHPLF 730 740 750 760 770 780 QAMTDPLCHL SSLTLSHCKL PDAVCRDLSE ALRAAPALTE LGLLHNRLSE AGLRMLSEGL 790 800 810 820 830 840 AWPQCRVQTV RVQLPDPQRG LQYLVGMLRQ SPALTTLDLS GCQLPAPMVT YLCAVLQHQG 850 860 870 880 890 CGLQTLSLAS VELSEQSLQE LQAVKRAKPD LVITHPALDG HPQPPKELIS TF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing." Wang L., Manji G.A., Grenier J.M., Al-Garawi A., Merriam S., Lora J.M., Geddes B.J., Briskin M., DiStefano P.S., Bertin J. J. Biol. Chem. 277:29874-29880(2002) [PubMed: 12019269] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LEU-163 AND PHE-361.
[2]	"NALPs: a novel protein family involved in inflammation." Tschopp J., Martinon F., Burns K. Nat. Rev. Mol. Cell Biol. 4:95-104(2003) [PubMed: 12563287] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LEU-163 AND PHE-361.
[3]	"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. , 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], VARIANTS LEU-163 AND PHE-361. Tissue: Thymus.
[4]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1." Grenier J.M., Wang L., Manji G.A., Huang W.-J., Al-Garawi A., Kelly R., Carlson A., Merriam S., Lora J.M., Briskin M., DiStefano P.S., Bertin J. FEBS Lett. 530:73-78(2002) [PubMed: 12387869] [Abstract] Cited for: FUNCTION.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF479748 mRNA. Translation: AAL87105.1. AY154461 mRNA. Translation: AAO18157.1. AK292668 mRNA. Translation: BAF85357.1. AC136475 mRNA. No translation available.
IPI	IPI00168279.
RefSeq	NP_612202.1. NM_138329.1.
UniGene	Hs.352611.
3D structure databases
ProteinModelPortal	P59044.
SMR	P59044. Positions 5-127, 192-217, 666-888.
ModBase	Search...
Protein-protein interaction databases
STRING	P59044.
Polymorphism databases
DMDM	259016285.
Proteomic databases
PRIDE	P59044.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000312165; ENSP00000309767; ENSG00000174885.
GeneID	171389.
KEGG	hsa:171389.
UCSC	uc001loq.1. human.
Organism-specific databases
CTD	171389.
GeneCards	GC11P000269.
H-InvDB	HIX0201710.
HGNC	HGNC:22944. NLRP6.
MIM	609650. gene.
neXtProt	NX_P59044.
PharmGKB	PA162398002.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13970.
GeneTree	ENSGT00590000083026.
HOGENOM	HBG283319.
HOVERGEN	HBG108172.
InParanoid	P59044.
OMA	LGRRAQF.
OrthoDB	EOG4VMFF2.
PhylomeDB	P59044.
Gene expression databases
ArrayExpress	P59044.
Bgee	P59044.
CleanEx	HS_NLRP6.
Genevestigator	P59044.
GermOnline	ENSG00000174885. Homo sapiens.
Family and domain databases
InterPro	IPR011029. DEATH-like. IPR007111. NACHT_NTPase. IPR004020. Pyrin. [Graphical view]
Gene3D	G3DSA:1.10.533.10. DEATH_like. 1 hit.
Pfam	PF02758. PAAD_DAPIN. 1 hit. [Graphical view]
SUPFAM	SSF47986. DEATH_like. 1 hit.
PROSITE	PS50824. DAPIN. 1 hit. PS50837. NACHT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	89223.
SOURCE	Search...

Entry information

Entry name

NALP6_HUMAN

Accession

Primary (citable) accession number: P59044
Secondary accession number(s): A8K9F3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 19, 2002
Last sequence update:	September 22, 2009
Last modified:	January 25, 2012
This is version 83 of the entry and version 2 of the sequence. [Complete history]

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.