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UniProtKB - P59046 (NAL12_HUMAN)

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Protein

NACHT, LRR and PYD domains-containing protein 12

Gene

NLRP12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi217 – 224ATP8

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • activation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
  • cellular response to cytokine stimulus Source: Ensembl
  • dendritic cell migration Source: Ensembl
  • negative regulation of cytokine secretion Source: HGNC
  • negative regulation of ERK1 and ERK2 cascade Source: Ensembl
  • negative regulation of I-kappaB kinase/NF-kappaB signaling Source: HGNC
  • negative regulation of inflammatory response Source: BHF-UCL
  • negative regulation of interleukin-1 secretion Source: HGNC
  • negative regulation of interleukin-6 biosynthetic process Source: HGNC
  • negative regulation of NF-kappaB transcription factor activity Source: BHF-UCL
  • negative regulation of NIK/NF-kappaB signaling Source: Ensembl
  • negative regulation of protein autophosphorylation Source: HGNC
  • negative regulation of signal transduction Source: HGNC
  • negative regulation of Toll signaling pathway Source: HGNC
  • positive regulation of inflammatory response Source: UniProtKB
  • positive regulation of interleukin-1 beta secretion Source: UniProtKB
  • positive regulation of MHC class I biosynthetic process Source: MGI
  • positive regulation of NIK/NF-kappaB signaling Source: UniProtKB
  • regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: MGI
  • regulation of I-kappaB kinase/NF-kappaB signaling Source: MGI
  • regulation of interleukin-18 biosynthetic process Source: UniProtKB
  • signal transduction Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

LigandATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
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 namesi
Name:NLRP12
Synonyms:NALP12, PYPAF7, RNO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000142405.21
HGNCiHGNC:22938 NLRP12
MIMi609648 gene
neXtProtiNX_P59046

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Familial cold autoinflammatory syndrome 2 (FCAS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:611762

Organism-specific databases

DisGeNETi91662
MalaCardsiNLRP12
MIMi611762 phenotype
OpenTargetsiENSG00000142405
Orphaneti247868 NLRP12-associated hereditary periodic fever syndrome
PharmGKBiPA162397866

Polymorphism and mutation databases

DMDMi34223733

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000808991 – 1061NACHT, LRR and PYD domains-containing protein 12Add BLAST1061

Proteomic databases

PaxDbiP59046
PeptideAtlasiP59046
PRIDEiP59046
ProteomicsDBi57117
57118 [P59046-2]
57119 [P59046-3]
57120 [P59046-4]
57121 [P59046-5]

PTM databases

iPTMnetiP59046
PhosphoSitePlusiP59046

Expressioni

Tissue specificityi

Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes, and at lower levels in monocytes.1 Publication

Inductioni

By nitric oxide and DMSO in HL-60 cells, an acute myeloid leukemia cell line.1 Publication

Gene expression databases

BgeeiENSG00000142405
CleanExiHS_NLRP12
ExpressionAtlasiP59046 baseline and differential
GenevisibleiP59046 HS

Organism-specific databases

HPAiHPA042981

Interactioni

Subunit structurei

Binds to ASC with its pyrin domain. Interacts with FAF1 UBA domain via its pyrin domain.1 Publication

Protein-protein interaction databases

BioGridi124861, 5 interactors
IntActiP59046, 24 interactors
MINTiP59046
STRINGi9606.ENSP00000319377

Structurei

Secondary structure

11061
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi10 – 17Combined sources8
Helixi22 – 35Combined sources14
Turni37 – 40Combined sources4
Helixi45 – 48Combined sources4
Helixi53 – 64Combined sources12
Helixi66 – 77Combined sources12
Turni78 – 81Combined sources4
Helixi83 – 90Combined sources8
Beta strandi95 – 98Combined sources4

3D structure databases

ProteinModelPortaliP59046
SMRiP59046
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP59046

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 95PyrinPROSITE-ProRule annotationAdd BLAST95
Domaini211 – 528NACHTPROSITE-ProRule annotationAdd BLAST318
Repeati828 – 848LRR 1Add BLAST21
Repeati857 – 878LRR 2Add BLAST22
Repeati885 – 906LRR 3Add BLAST22
Repeati914 – 935LRR 4Add BLAST22
Repeati942 – 962LRR 5Add BLAST21
Repeati971 – 992LRR 6Add BLAST22
Repeati999 – 1020LRR 7Add BLAST22
Repeati1028 – 1049LRR 8Add BLAST22

Sequence similaritiesi

Belongs to the NLRP family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiENOG410IE5X Eukaryota
ENOG4111H3D LUCA
GeneTreeiENSGT00900000140813
HOGENOMiHOG000294064
HOVERGENiHBG063656
InParanoidiP59046
KOiK20865
OMAiCLCWEEK
OrthoDBiEOG091G01CG
PhylomeDBiP59046
TreeFamiTF340267

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR004020 DAPIN
IPR011029 DEATH-like_dom_sf
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
IPR029495 NACHT-assoc
IPR007111 NACHT_NTPase
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF14484 FISNA, 1 hit
PF13516 LRR_6, 5 hits
PF05729 NACHT, 1 hit
PF02758 PYRIN, 1 hit
SMARTiView protein in SMART
SM01288 FISNA, 1 hit
SM01289 PYRIN, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50824 DAPIN, 1 hit
PS51450 LRR, 5 hits
PS50837 NACHT, 1 hit

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P59046-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MLRTAGRDGL CRLSTYLEEL EAVELKKFKL YLGTATELGE GKIPWGSMEK 
        60         70         80         90        100
AGPLEMAQLL ITHFGPEEAW RLALSTFERI NRKDLWERGQ REDLVRDTPP 
       110        120        130        140        150
GGPSSLGNQS TCLLEVSLVT PRKDPQETYR DYVRRKFRLM EDRNARLGEC 
       160        170        180        190        200
VNLSHRYTRL LLVKEHSNPM QVQQQLLDTG RGHARTVGHQ ASPIKIETLF 
       210        220        230        240        250
EPDEERPEPP RTVVMQGAAG IGKSMLAHKV MLDWADGKLF QGRFDYLFYI 
       260        270        280        290        300
NCREMNQSAT ECSMQDLIFS CWPEPSAPLQ ELIRVPERLL FIIDGFDELK 
       310        320        330        340        350
PSFHDPQGPW CLCWEEKRPT ELLLNSLIRK KLLPELSLLI TTRPTALEKL 
       360        370        380        390        400
HRLLEHPRHV EILGFSEAER KEYFYKYFHN AEQAGQVFNY VRDNEPLFTM 
       410        420        430        440        450
CFVPLVCWVV CTCLQQQLEG GGLLRQTSRT TTAVYMLYLL SLMQPKPGAP 
       460        470        480        490        500
RLQPPPNQRG LCSLAADGLW NQKILFEEQD LRKHGLDGED VSAFLNMNIF 
       510        520        530        540        550
QKDINCERYY SFIHLSFQEF FAAMYYILDE GEGGAGPDQD VTRLLTEYAF 
       560        570        580        590        600
SERSFLALTS RFLFGLLNEE TRSHLEKSLC WKVSPHIKMD LLQWIQSKAQ 
       610        620        630        640        650
SDGSTLQQGS LEFFSCLYEI QEEEFIQQAL SHFQVIVVSN IASKMEHMVS 
       660        670        680        690        700
SFCLKRCRSA QVLHLYGATY SADGEDRARC SAGAHTLLVQ LPERTVLLDA 
       710        720        730        740        750
YSEHLAAALC TNPNLIELSL YRNALGSRGV KLLCQGLRHP NCKLQNLRLK 
       760        770        780        790        800
RCRISSSACE DLSAALIANK NLTRMDLSGN GVGFPGMMLL CEGLRHPQCR 
       810        820        830        840        850
LQMIQLRKCQ LESGACQEMA SVLGTNPHLV ELDLTGNALE DLGLRLLCQG 
       860        870        880        890        900
LRHPVCRLRT LWLKICRLTA AACDELASTL SVNQSLRELD LSLNELGDLG 
       910        920        930        940        950
VLLLCEGLRH PTCKLQTLRL GICRLGSAAC EGLSVVLQAN HNLRELDLSF 
       960        970        980        990       1000
NDLGDWGLWL LAEGLQHPAC RLQKLWLDSC GLTAKACENL YFTLGINQTL 
      1010       1020       1030       1040       1050
TDLYLTNNAL GDTGVRLLCK RLSHPGCKLR VLWLFGMDLN KMTHSRLAAL 
      1060 
RVTKPYLDIG C
Length:1,061
Mass (Da):120,173
Last modified:August 22, 2003 - v2
Checksum:i8C10AFE4907C131B
GO
Isoform 2 (identifier: P59046-2) [UniParc]FASTAAdd to basket
Also known as: II

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

Show »
Length:1,005
Mass (Da):114,006
Checksum:i79BD8925AA43644F
GO
Isoform 3 (identifier: P59046-3) [UniParc]FASTAAdd to basket
Also known as: III

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

Show »
Length:949
Mass (Da):107,913
Checksum:i99995A1C7261D636
GO
Isoform 4 (identifier: P59046-4) [UniParc]FASTAAdd to basket
Also known as: IV

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

Show »
Length:891
Mass (Da):101,504
Checksum:i43093A9B22873A00
GO
Isoform 5 (identifier: P59046-5) [UniParc]FASTAAdd to basket
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.

Show »
Length:287
Mass (Da):31,765
Checksum:iBD3816C3255B2F9E
GO
Isoform 6 (identifier: P59046-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     920-976: Missing.

Note: No experimental confirmation available.
Show »
Length:1,004
Mass (Da):113,876
Checksum:i7D7350A83F286749
GO
Isoform 7 (identifier: P59046-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     691-691: L → LR

Note: No experimental confirmation.
Show »
Length:1,062
Mass (Da):120,329
Checksum:i0AB81C87F116497F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti648M → T in BAG53059 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05362039G → V. Corresponds to variant dbSNP:rs34436714EnsemblClinVar.1
Natural variantiVAR_053621402F → L. Corresponds to variant dbSNP:rs34971363EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0169081 – 717Missing in isoform 5. 1 PublicationAdd BLAST717
Alternative sequenceiVSP_055193691L → LR in isoform 7. 1 Publication1
Alternative sequenceiVSP_016909718 – 748LSLYR…LQNLR → MSQAWWHTSVSPATQEAKAG GLLQPRRQRLW in isoform 5. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_009879862 – 1031Missing in isoform 4. 1 PublicationAdd BLAST170
Alternative sequenceiVSP_005523862 – 973Missing in isoform 3. 1 PublicationAdd BLAST112
Alternative sequenceiVSP_054622920 – 976Missing in isoform 6. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_016910921 – 977Missing in isoform 5. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_005524976 – 1031Missing in isoform 2. 1 PublicationAdd BLAST56

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
AK095460 mRNA Translation: BAG53059.1
AC008753 Genomic DNA No translation available.
CH471135 Genomic DNA Translation: EAW72152.1
BC028069 mRNA Translation: AAH28069.1
CCDSiCCDS12864.1 [P59046-1]
CCDS62784.1 [P59046-6]
CCDS62785.1 [P59046-7]
RefSeqiNP_001264055.1, NM_001277126.1 [P59046-7]
NP_001264058.1, NM_001277129.1 [P59046-6]
NP_653288.1, NM_144687.3 [P59046-1]
UniGeneiHs.631573

Genome annotation databases

EnsembliENST00000324134; ENSP00000319377; ENSG00000142405 [P59046-1]
ENST00000391773; ENSP00000375653; ENSG00000142405 [P59046-7]
ENST00000391775; ENSP00000375655; ENSG00000142405 [P59046-6]
GeneIDi91662
KEGGihsa:91662
UCSCiuc002qch.6 human [P59046-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNAL12_HUMAN
AccessioniPrimary (citable) accession number: P59046
Secondary accession number(s): A8MTQ2
, B3KTE7, Q8NEU4, Q9BY26
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: August 22, 2003
Last modified: June 20, 2018
This is version 156 of the entry and version 2 of the sequence. See 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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