• Gene id: 91662

Gene Summary

• Gene Symbol: NLRP12   Gene   UCSC   Ensembl
• Aliases: CLR19.3, FCAS2, NALP12, PAN6, PYPAF7, RNO, RNO2
• Gene name: NLR family pyrin domain containing 12
• Alternate names: NACHT, LRR and PYD domains-containing protein 12, PYRIN-containing APAF1-like protein 7, monarch 1, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12, regulated by nitric oxide,
• Gene location: 19q13.42 (53824402: 53793583)     Exons: 12     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuati
• OMIM: 138760

Protein Summary

• Protein general information: P59046  
  • Name: NACHT, LRR and PYD domains containing protein 12 (Monarch 1) (PYRIN containing APAF1 like protein 7) (Regulated by nitric oxide)
  • Length: 1061  
  • Mass: 120173
  • Tissue specificity: Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes, and at lower levels in monocytes. {ECO
• Sequence:

  MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELGEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALS
  TFERINRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGEC
  VNLSHRYTRLLLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSM
  LAHKVMLDWADGKLFQGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELK
  PSFHDPQGPWCLCWEEKRPTELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFY
  KYFHNAEQAGQVFNYVRDNEPLFTMCFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAP
  RLQPPPNQRGLCSLAADGLWNQKILFEEQDLRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMY
  YILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTSRFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQ
  SDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSNIASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGE
  DRARCSAGAHTLLVQLPERTVLLDAYSEHLAAALCTNPNLIELSLYRNALGSRGVKLLCQGLRHPNCKLQNLRLK
  RCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQCRLQMIQLRKCQLESGACQEMASVLGT
  NPHLVELDLTGNALEDLGLRLLCQGLRHPVCRLRTLWLKICRLTAAACDELASTLSVNQSLRELDLSLNELGDLG
  VLLLCEGLRHPTCKLQTLRLGICRLGSAACEGLSVVLQANHNLRELDLSFNDLGDWGLWLLAEGLQHPACRLQKL
  WLDSCGLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVRLLCKRLSHPGCKLRVLWLFGMDLNKMTHSRLAAL
  RVTKPYLDIGC

• Structural information:
  • Protein Domains: (1..9-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061-)
    (211..52-)
    (/note="NACHT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00136"-)
  • Interpro: IPR004020  IPR011029  IPR001611  IPR032675  IPR029495   IPR007111  IPR041267  IPR041075  IPR027417  
  • Prosite: PS50824 PS51450 PS50837
  • PDB: 2L6A 4XHS 5H7N
  • PDBsum: 2L6A 4XHS 5H7N
  • STRING: ENSP00000375653
• Other Databases: GeneCards:  NLRP12  Malacards:  NLRP12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0009968	negative regulation of signal transduction	IDA	biological process
GO:0045409	negative regulation of interleukin-6 biosynthetic process	IDA	biological process
GO:0031953	negative regulation of protein autophosphorylation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050710	negative regulation of cytokine secretion	IDA	biological process
GO:0050711	negative regulation of interleukin-1 secretion	IDA	biological process
GO:0045751	negative regulation of Toll signaling pathway	IDA	biological process
GO:0071345	cellular response to cytokine stimulus	IBA	biological process
GO:0045409	negative regulation of interleukin-6 biosynthetic process	IBA	biological process
GO:0043281	regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0045345	positive regulation of MHC class I biosynthetic process	IBA	biological process
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:1901223	negative regulation of NIK/NF-kappaB signaling	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0045345	positive regulation of MHC class I biosynthetic process	IDA	biological process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0043281	regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	NOT|cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036336	dendritic cell migration	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0071345	cellular response to cytokine stimulus	IEA	biological process
GO:1901223	negative regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0050729	positive regulation of inflammatory response	NAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045381	regulation of interleukin-18 biosynthetic process	NAS	biological process
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	NAS	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Familial cold autoinflammatory syndrome	KEGG:H02159
Familial cold autoinflammatory syndrome	KEGG:H02159
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq