P59046 (NAL12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NACHT, LRR and PYD domains-containing protein 12

Alternative name(s):
Monarch-1
PYRIN-containing APAF1-like protein 7
Regulated by nitric oxide

Gene names

Name:	NLRP12
Synonyms:	NALP12, PYPAF7, RNO

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1061 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK.
Subunit structure	Binds to ASC with its DAPIN domain. Interacts with FAF1 UBA domain via its DAPIN domain. Ref.8
Subcellular location	Cytoplasm.
Tissue specificity	Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes, and at lower levels in monocytes. Ref.4
Induction	By nitric oxide and DMSO in HL-60 cells, an acute myeloid leukemia cell line. Ref.4
Involvement in disease	Familial cold autoinflammatory syndrome 2 (FCAS2) [MIM:611762]: A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence similarities	Belongs to the NLRP family. Contains 1 DAPIN domain. Contains 8 LRR (leucine-rich) repeats. Contains 1 NACHT domain.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Leucine-rich repeat Repeat
Ligand	ATP-binding Nucleotide-binding
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of I-kappaB kinase/NF-kappaB cascade Inferred from direct assay PubMed 16203735. Source: HGNC negative regulation of NF-kappaB transcription factor activity Inferred from direct assay Ref.7. Source: BHF-UCL negative regulation of Toll signaling pathway Inferred from direct assay PubMed 16203735. Source: HGNC negative regulation of inflammatory response Inferred from mutant phenotype Ref.7. Source: BHF-UCL negative regulation of interleukin-1 secretion Inferred from direct assay PubMed 16203735. Source: HGNC negative regulation of interleukin-6 biosynthetic process Inferred from direct assay PubMed 16203735. Source: HGNC negative regulation of protein autophosphorylation Inferred from direct assay PubMed 16203735. Source: HGNC positive regulation of inflammatory response Non-traceable author statement Ref.1. Source: UniProtKB positive regulation of interleukin-1 beta secretion Non-traceable author statement Ref.1. Source: UniProtKB regulation of interleukin-18 biosynthetic process Non-traceable author statement Ref.1. Source: UniProtKB release of cytoplasmic sequestered NF-kappaB Inferred from direct assay Ref.1. Source: UniProtKB
Cellular_component	cytoplasm Inferred from direct assay Ref.1. Source: UniProtKB
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW cysteine-type endopeptidase activator activity involved in apoptotic process Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P59046-1)

Also known as: I;

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: P59046-2)

Also known as: II;

The sequence of this isoform differs from the canonical sequence as follows:
     976-1031: Missing.

Isoform 3 (identifier: P59046-3)

Also known as: III;

The sequence of this isoform differs from the canonical sequence as follows:
     862-973: Missing.

Isoform 4 (identifier: P59046-4)

Also known as: IV;

The sequence of this isoform differs from the canonical sequence as follows:
     862-1031: Missing.

Isoform 5 (identifier: P59046-5)

Also known as: rno-2;

The sequence of this isoform differs from the canonical sequence as follows:
     1-717: Missing.
     718-748: LSLYRNALGSRGVKLLCQGLRHPNCKLQNLR → MSQAWWHTSVSPATQEAKAGGLLQPRRQRLW
     921-977: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1061

1061

NACHT, LRR and PYD domains-containing protein 12

PRO_0000080899

Regions

Domain

1 – 95

95

DAPIN

Domain

211 – 528

318

NACHT

Repeat

828 – 848

21

LRR 1

Repeat

857 – 878

22

LRR 2

Repeat

885 – 906

22

LRR 3

Repeat

914 – 935

22

LRR 4

Repeat

942 – 962

21

LRR 5

Repeat

971 – 992

22

LRR 6

Repeat

999 – 1020

22

LRR 7

Repeat

1028 – 1049

22

LRR 8

Nucleotide binding

217 – 224

8

ATP

Natural variations

Alternative sequence

1 – 717

717

Missing in isoform 5.

VSP_016908

Alternative sequence

718 – 748

31

LSLYR…LQNLR → MSQAWWHTSVSPATQEAKAG GLLQPRRQRLW in isoform 5.

VSP_016909

Alternative sequence

862 – 1031

170

Missing in isoform 4.

VSP_009879

Alternative sequence

862 – 973

112

Missing in isoform 3.

VSP_005523

Alternative sequence

921 – 977

57

Missing in isoform 5.

VSP_016910

Alternative sequence

976 – 1031

56

Missing in isoform 2.

VSP_005524

Natural variant

39

1

G → V.
Corresponds to variant rs34436714 [ dbSNP | Ensembl ].

VAR_053620

Natural variant

402

1

F → L.
Corresponds to variant rs34971363 [ dbSNP | Ensembl ].

VAR_053621

Experimental info

Sequence conflict

691

1

L → LR in AAM75142. Ref.3

Sequence conflict

691

1

L → LR in AAM75143. Ref.3

Sequence conflict

691

1

L → LR in AAM75144. Ref.3

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

1061

Helix Strand Turn

Details...

Helix

10 – 17

8

Helix

22 – 33

12

Turn

37 – 40

4

Turn

47 – 50

4

Helix

53 – 63

11

Helix

66 – 77

12

Helix

78 – 80

3

Helix

83 – 87

5

Beta strand

95 – 98

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (I) [UniParc]. Last modified August 22, 2003. Version 2. Checksum: 8C10AFE4907C131B	FASTA	1,061	120,173
	10 20 30 40 50 60 MLRTAGRDGL CRLSTYLEEL EAVELKKFKL YLGTATELGE GKIPWGSMEK AGPLEMAQLL 70 80 90 100 110 120 ITHFGPEEAW RLALSTFERI NRKDLWERGQ REDLVRDTPP GGPSSLGNQS TCLLEVSLVT 130 140 150 160 170 180 PRKDPQETYR DYVRRKFRLM EDRNARLGEC VNLSHRYTRL LLVKEHSNPM QVQQQLLDTG 190 200 210 220 230 240 RGHARTVGHQ ASPIKIETLF EPDEERPEPP RTVVMQGAAG IGKSMLAHKV MLDWADGKLF 250 260 270 280 290 300 QGRFDYLFYI NCREMNQSAT ECSMQDLIFS CWPEPSAPLQ ELIRVPERLL FIIDGFDELK 310 320 330 340 350 360 PSFHDPQGPW CLCWEEKRPT ELLLNSLIRK KLLPELSLLI TTRPTALEKL HRLLEHPRHV 370 380 390 400 410 420 EILGFSEAER KEYFYKYFHN AEQAGQVFNY VRDNEPLFTM CFVPLVCWVV CTCLQQQLEG 430 440 450 460 470 480 GGLLRQTSRT TTAVYMLYLL SLMQPKPGAP RLQPPPNQRG LCSLAADGLW NQKILFEEQD 490 500 510 520 530 540 LRKHGLDGED VSAFLNMNIF QKDINCERYY SFIHLSFQEF FAAMYYILDE GEGGAGPDQD 550 560 570 580 590 600 VTRLLTEYAF SERSFLALTS RFLFGLLNEE TRSHLEKSLC WKVSPHIKMD LLQWIQSKAQ 610 620 630 640 650 660 SDGSTLQQGS LEFFSCLYEI QEEEFIQQAL SHFQVIVVSN IASKMEHMVS SFCLKRCRSA 670 680 690 700 710 720 QVLHLYGATY SADGEDRARC SAGAHTLLVQ LPERTVLLDA YSEHLAAALC TNPNLIELSL 730 740 750 760 770 780 YRNALGSRGV KLLCQGLRHP NCKLQNLRLK RCRISSSACE DLSAALIANK NLTRMDLSGN 790 800 810 820 830 840 GVGFPGMMLL CEGLRHPQCR LQMIQLRKCQ LESGACQEMA SVLGTNPHLV ELDLTGNALE 850 860 870 880 890 900 DLGLRLLCQG LRHPVCRLRT LWLKICRLTA AACDELASTL SVNQSLRELD LSLNELGDLG 910 920 930 940 950 960 VLLLCEGLRH PTCKLQTLRL GICRLGSAAC EGLSVVLQAN HNLRELDLSF NDLGDWGLWL 970 980 990 1000 1010 1020 LAEGLQHPAC RLQKLWLDSC GLTAKACENL YFTLGINQTL TDLYLTNNAL GDTGVRLLCK 1030 1040 1050 1060 RLSHPGCKLR VLWLFGMDLN KMTHSRLAAL RVTKPYLDIG C
	Isoform 2 (II) [UniParc]. Checksum: 79BD8925AA43644F	FASTA	1,005	114,006
	10 20 30 40 50 60 MLRTAGRDGL CRLSTYLEEL EAVELKKFKL YLGTATELGE GKIPWGSMEK AGPLEMAQLL 70 80 90 100 110 120 ITHFGPEEAW RLALSTFERI NRKDLWERGQ REDLVRDTPP GGPSSLGNQS TCLLEVSLVT 130 140 150 160 170 180 PRKDPQETYR DYVRRKFRLM EDRNARLGEC VNLSHRYTRL LLVKEHSNPM QVQQQLLDTG 190 200 210 220 230 240 RGHARTVGHQ ASPIKIETLF EPDEERPEPP RTVVMQGAAG IGKSMLAHKV MLDWADGKLF 250 260 270 280 290 300 QGRFDYLFYI NCREMNQSAT ECSMQDLIFS CWPEPSAPLQ ELIRVPERLL FIIDGFDELK 310 320 330 340 350 360 PSFHDPQGPW CLCWEEKRPT ELLLNSLIRK KLLPELSLLI TTRPTALEKL HRLLEHPRHV 370 380 390 400 410 420 EILGFSEAER KEYFYKYFHN AEQAGQVFNY VRDNEPLFTM CFVPLVCWVV CTCLQQQLEG 430 440 450 460 470 480 GGLLRQTSRT TTAVYMLYLL SLMQPKPGAP RLQPPPNQRG LCSLAADGLW NQKILFEEQD 490 500 510 520 530 540 LRKHGLDGED VSAFLNMNIF QKDINCERYY SFIHLSFQEF FAAMYYILDE GEGGAGPDQD 550 560 570 580 590 600 VTRLLTEYAF SERSFLALTS RFLFGLLNEE TRSHLEKSLC WKVSPHIKMD LLQWIQSKAQ 610 620 630 640 650 660 SDGSTLQQGS LEFFSCLYEI QEEEFIQQAL SHFQVIVVSN IASKMEHMVS SFCLKRCRSA 670 680 690 700 710 720 QVLHLYGATY SADGEDRARC SAGAHTLLVQ LPERTVLLDA YSEHLAAALC TNPNLIELSL 730 740 750 760 770 780 YRNALGSRGV KLLCQGLRHP NCKLQNLRLK RCRISSSACE DLSAALIANK NLTRMDLSGN 790 800 810 820 830 840 GVGFPGMMLL CEGLRHPQCR LQMIQLRKCQ LESGACQEMA SVLGTNPHLV ELDLTGNALE 850 860 870 880 890 900 DLGLRLLCQG LRHPVCRLRT LWLKICRLTA AACDELASTL SVNQSLRELD LSLNELGDLG 910 920 930 940 950 960 VLLLCEGLRH PTCKLQTLRL GICRLGSAAC EGLSVVLQAN HNLRELDLSF NDLGDWGLWL 970 980 990 1000 LAEGLQHPAC RLQKLLWLFG MDLNKMTHSR LAALRVTKPY LDIGC
	Isoform 3 (III) [UniParc]. Checksum: 99995A1C7261D636	FASTA	949	107,913
	10 20 30 40 50 60 MLRTAGRDGL CRLSTYLEEL EAVELKKFKL YLGTATELGE GKIPWGSMEK AGPLEMAQLL 70 80 90 100 110 120 ITHFGPEEAW RLALSTFERI NRKDLWERGQ REDLVRDTPP GGPSSLGNQS TCLLEVSLVT 130 140 150 160 170 180 PRKDPQETYR DYVRRKFRLM EDRNARLGEC VNLSHRYTRL LLVKEHSNPM QVQQQLLDTG 190 200 210 220 230 240 RGHARTVGHQ ASPIKIETLF EPDEERPEPP RTVVMQGAAG IGKSMLAHKV MLDWADGKLF 250 260 270 280 290 300 QGRFDYLFYI NCREMNQSAT ECSMQDLIFS CWPEPSAPLQ ELIRVPERLL FIIDGFDELK 310 320 330 340 350 360 PSFHDPQGPW CLCWEEKRPT ELLLNSLIRK KLLPELSLLI TTRPTALEKL HRLLEHPRHV 370 380 390 400 410 420 EILGFSEAER KEYFYKYFHN AEQAGQVFNY VRDNEPLFTM CFVPLVCWVV CTCLQQQLEG 430 440 450 460 470 480 GGLLRQTSRT TTAVYMLYLL SLMQPKPGAP RLQPPPNQRG LCSLAADGLW NQKILFEEQD 490 500 510 520 530 540 LRKHGLDGED VSAFLNMNIF QKDINCERYY SFIHLSFQEF FAAMYYILDE GEGGAGPDQD 550 560 570 580 590 600 VTRLLTEYAF SERSFLALTS RFLFGLLNEE TRSHLEKSLC WKVSPHIKMD LLQWIQSKAQ 610 620 630 640 650 660 SDGSTLQQGS LEFFSCLYEI QEEEFIQQAL SHFQVIVVSN IASKMEHMVS SFCLKRCRSA 670 680 690 700 710 720 QVLHLYGATY SADGEDRARC SAGAHTLLVQ LPERTVLLDA YSEHLAAALC TNPNLIELSL 730 740 750 760 770 780 YRNALGSRGV KLLCQGLRHP NCKLQNLRLK RCRISSSACE DLSAALIANK NLTRMDLSGN 790 800 810 820 830 840 GVGFPGMMLL CEGLRHPQCR LQMIQLRKCQ LESGACQEMA SVLGTNPHLV ELDLTGNALE 850 860 870 880 890 900 DLGLRLLCQG LRHPVCRLRT LKLWLDSCGL TAKACENLYF TLGINQTLTD LYLTNNALGD 910 920 930 940 TGVRLLCKRL SHPGCKLRVL WLFGMDLNKM THSRLAALRV TKPYLDIGC
	Isoform 4 (IV) [UniParc]. Checksum: 43093A9B22873A00	FASTA	891	101,504
	10 20 30 40 50 60 MLRTAGRDGL CRLSTYLEEL EAVELKKFKL YLGTATELGE GKIPWGSMEK AGPLEMAQLL 70 80 90 100 110 120 ITHFGPEEAW RLALSTFERI NRKDLWERGQ REDLVRDTPP GGPSSLGNQS TCLLEVSLVT 130 140 150 160 170 180 PRKDPQETYR DYVRRKFRLM EDRNARLGEC VNLSHRYTRL LLVKEHSNPM QVQQQLLDTG 190 200 210 220 230 240 RGHARTVGHQ ASPIKIETLF EPDEERPEPP RTVVMQGAAG IGKSMLAHKV MLDWADGKLF 250 260 270 280 290 300 QGRFDYLFYI NCREMNQSAT ECSMQDLIFS CWPEPSAPLQ ELIRVPERLL FIIDGFDELK 310 320 330 340 350 360 PSFHDPQGPW CLCWEEKRPT ELLLNSLIRK KLLPELSLLI TTRPTALEKL HRLLEHPRHV 370 380 390 400 410 420 EILGFSEAER KEYFYKYFHN AEQAGQVFNY VRDNEPLFTM CFVPLVCWVV CTCLQQQLEG 430 440 450 460 470 480 GGLLRQTSRT TTAVYMLYLL SLMQPKPGAP RLQPPPNQRG LCSLAADGLW NQKILFEEQD 490 500 510 520 530 540 LRKHGLDGED VSAFLNMNIF QKDINCERYY SFIHLSFQEF FAAMYYILDE GEGGAGPDQD 550 560 570 580 590 600 VTRLLTEYAF SERSFLALTS RFLFGLLNEE TRSHLEKSLC WKVSPHIKMD LLQWIQSKAQ 610 620 630 640 650 660 SDGSTLQQGS LEFFSCLYEI QEEEFIQQAL SHFQVIVVSN IASKMEHMVS SFCLKRCRSA 670 680 690 700 710 720 QVLHLYGATY SADGEDRARC SAGAHTLLVQ LPERTVLLDA YSEHLAAALC TNPNLIELSL 730 740 750 760 770 780 YRNALGSRGV KLLCQGLRHP NCKLQNLRLK RCRISSSACE DLSAALIANK NLTRMDLSGN 790 800 810 820 830 840 GVGFPGMMLL CEGLRHPQCR LQMIQLRKCQ LESGACQEMA SVLGTNPHLV ELDLTGNALE 850 860 870 880 890 DLGLRLLCQG LRHPVCRLRT LLWLFGMDLN KMTHSRLAAL RVTKPYLDIG C
	Isoform 5 (rno-2) [UniParc]. Checksum: BD3816C3255B2F9E	FASTA	287	31,765
	10 20 30 40 50 60 MSQAWWHTSV SPATQEAKAG GLLQPRRQRL WLKRCRISSS ACEDLSAALI ANKNLTRMDL 70 80 90 100 110 120 SGNGVGFPGM MLLCEGLRHP QCRLQMIQLR KCQLESGACQ EMASVLGTNP HLVELDLTGN 130 140 150 160 170 180 ALEDLGLRLL CQGLRHPVCR LRTLWLKICR LTAAACDELA STLSVNQSLR ELDLSLNELG 190 200 210 220 230 240 DLGVLLLCEG LRHPTCKLQT LRLDSCGLTA KACENLYFTL GINQTLTDLY LTNNALGDTG 250 260 270 280 VRLLCKRLSH PGCKLRVLWL FGMDLNKMTH SRLAALRVTK PYLDIGC

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	Williams K.L., Linhoff M.W., Harton J.A., Ting J.P.Y. Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4). Tissue: Lymphoma.
[4]	"Identification and characterization of a novel gene that is upregulated in leukaemia cells by nitric oxide." Shami P.J., Kanai N., Wang L.Y., Vreeke T.M., Parker C.J. Br. J. Haematol. 112:138-147(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), TISSUE SPECIFICITY, ALTERNATIVE SPLICING, INDUCTION. Tissue: Peripheral blood leukocyte.
[5]	"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). Tissue: Leukocyte.
[6]	"ATP binding by monarch-1/NLRP12 is critical for its inhibitory function." Ye Z., Lich J.D., Moore C.B., Duncan J.A., Williams K.L., Ting J.P. Mol. Cell. Biol. 28:1841-1850(2008) [PubMed] [Europe PMC] [Abstract] Cited for: ATP-BINDING.
[7]	"Mutations in NALP12 cause hereditary periodic fever syndromes." Jeru I., Duquesnoy P., Fernandes-Alnemri T., Cochet E., Yu J.W., Lackmy-Port-Lis M., Grimprel E., Landman-Parker J., Hentgen V., Marlin S., McElreavey K., Sarkisian T., Grateau G., Alnemri E.S., Amselem S. Proc. Natl. Acad. Sci. U.S.A. 105:1614-1619(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN FCAS2.
[8]	"The NLRP12 pyrin domain: structure, dynamics, and functional insights." Pinheiro A.S., Eibl C., Ekman-Vural Z., Schwarzenbacher R., Peti W. J. Mol. Biol. 413:790-803(2011) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 1-98, INTERACTION WITH FAF1.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AY095146 mRNA. Translation: AAM18227.1.
AY154467 mRNA. Translation: AAO18163.1.
AY116204 mRNA. Translation: AAM75142.1.
AY116205 mRNA. Translation: AAM75143.1.
AY116206 mRNA. Translation: AAM75144.1.
AY116207 mRNA. Translation: AAM75145.1.
AF231021 mRNA. Translation: AAK14942.1.
BC028069 mRNA. Translation: AAH28069.1.

IPI

IPI00020916.
IPI00221203.
IPI00221204.
IPI00306878.
IPI00413241.

RefSeq

NP_001264055.1. NM_001277126.1.
NP_150639.1. NM_033297.2.
NP_653288.1. NM_144687.3.

UniGene

Hs.631573.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2L6A	NMR	-	A	1-98	[»]

ProteinModelPortal

P59046.

ModBase

Search...

Protein-protein interaction databases

IntAct

P59046. 1 interaction.

STRING

9606.ENSP00000319377.

PTM databases

PhosphoSite

P59046.

Polymorphism databases

DMDM

34223733.

Proteomic databases

PaxDb

P59046.

PRIDE

P59046.

Protocols and materials databases

DNASU

91662.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000324134; ENSP00000319377; ENSG00000142405.
ENST00000358661; ENSP00000351487; ENSG00000142405.
ENST00000391772; ENSP00000375652; ENSG00000142405.
ENST00000391773; ENSP00000375653; ENSG00000142405.

GeneID

91662.

KEGG

hsa:91662.

UCSC

uc002qch.4. human.
uc010eqw.3. human.

Organism-specific databases

CTD

91662.

GeneCards

GC19M054296.

HGNC

HGNC:22938. NLRP12.

HPA

HPA042981.

MIM

609648. gene.
611762. phenotype.

neXtProt

NX_P59046.

Orphanet

247868. NALP12-associated hereditary periodic fever syndrome.

PharmGKB

PA162397866.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG82860.

HOGENOM

HOG000294064.

HOVERGEN

HBG063656.

OrthoDB

EOG4TTGHK.

PhylomeDB

P59046.

Gene expression databases

ArrayExpress

P59046.

Bgee

P59046.

CleanEx

HS_NLRP12.

Genevestigator

P59046.

GermOnline

ENSG00000142405. Homo sapiens.

Family and domain databases

Gene3D

1.10.533.10. 1 hit.

InterPro

IPR004020. DAPIN.
IPR011029. DEATH-like_dom.
IPR001611. Leu-rich_rpt.
IPR007111. NACHT_NTPase.
[Graphical view]

Pfam

PF02758. PYRIN. 1 hit.
[Graphical view]

SUPFAM

SSF47986. DEATH_like. 1 hit.

PROSITE

PS50824. DAPIN. 1 hit.
PS51450. LRR. 5 hits.
PS50837. NACHT. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

P59046.

GenomeRNAi

91662.

NextBio

77368.

SOURCE

Search...

Entry information

Entry name

NAL12_HUMAN

Accession

Primary (citable) accession number: P59046
Secondary accession number(s): Q8NEU4, Q9BY26

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 19, 2002
Last sequence update:	August 22, 2003
Last modified:	May 1, 2013
This is version 108 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.