• Gene id: 199713

Gene Summary

• Gene Symbol: NLRP7   Gene   UCSC   Ensembl
• Aliases: CLR19.4, HYDM, NALP7, NOD12, PAN7, PYPAF3
• Gene name: NLR family pyrin domain containing 7
• Alternate names: NACHT, LRR and PYD domains-containing protein 7, NACHT, LRR and PYD containing protein 7, NACHT, leucine rich repeat and PYD containing 7, PYRIN-containing Apaf1-like protein 3, nucleotide-binding oligomerization domain protein 12, nucleotide-binding oligomeri,
• Gene location: 19q13.42 (54965183: 54923508)     Exons: 13     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP
• OMIM: 609661

Protein Summary

• Protein general information: Q8WX94  
  • Name: NACHT, LRR and PYD domains containing protein 7 (Nucleotide binding oligomerization domain protein 12) (PYRIN containing APAF1 like protein 3)
  • Length: 980  
  • Mass: 111807
  • Tissue specificity: Expressed in numerous tissues including uterus and ovary, with low levels in heart and brain. Not detected in skeletal muscle. {ECO
• Sequence:

  MTSPQLEWTLQTLLEQLNEDELKSFKSLLWAFPLEDVLQKTPWSEVEEADGKKLAEILVNTSSENWIRNATVNIL
  EEMNLTELCKMAKAEMMEDGQVQEIDNPELGDAEEDSELAKPGEKEGWRNSMEKQSLVWKNTFWQGDIDNFHDDV
  TLRNQRFIPFLNPRTPRKLTPYTVVLHGPAGVGKTTLAKKCMLDWTDCNLSPTLRYAFYLSCKELSRMGPCSFAE
  LISKDWPELQDDIPSILAQAQRILFVVDGLDELKVPPGALIQDICGDWEKKKPVPVLLGSLLKRKMLPRAALLVT
  TRPRALRDLQLLAQQPIYVRVEGFLEEDRRAYFLRHFGDEDQAMRAFELMRSNAALFQLGSAPAVCWIVCTTLKL
  QMEKGEDPVPTCLTRTGLFLRFLCSRFPQGAQLRGALRTLSLLAAQGLWAQMSVFHREDLERLGVQESDLRLFLD
  GDILRQDRVSKGCYSFIHLSFQQFLTALFYALEKEEGEDRDGHAWDIGDVQKLLSGEERLKNPDLIQVGHFLFGL
  ANEKRAKELEATFGCRMSPDIKQELLQCKAHLHANKPLSVTDLKEVLGCLYESQEEELAKVVVAPFKEISIHLTN
  TSEVMHCSFSLKHCQDLQKLSLQVAKGVFLENYMDFELDIEFERCTYLTIPNWARQDLRSLRLWTDFCSLFSSNS
  NLKFLEVKQSFLSDSSVRILCDHVTRSTCHLQKVEIKNVTPDTAYRDFCLAFIGKKTLTHLTLAGHIEWERTMML
  MLCDLLRNHKCNLQYLRLGGHCATPEQWAEFFYVLKANQSLKHLRLSANVLLDEGAMLLYKTMTRPKHFLQMLSL
  ENCRLTEASCKDLAAVLVVSKKLTHLCLAKNPIGDTGVKFLCEGLSYPDCKLQTLVLQQCSITKLGCRYLSEALQ
  EACSLTNLDLSINQIARGLWILCQALENPNCNLKHLRLKTYETNLEIKKLLEEVKEKNPKLTIDCNASGATAPPC
  CDFFC

• Structural information:
  • Protein Domains: (1..9-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061-)
    (172..49-)
    (/note="NACHT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00136"-)
  • Interpro: IPR004020  IPR011029  IPR032675  IPR007111  IPR041267   IPR041075  IPR027417  
  • Prosite: PS50824 PS50837
  • PDB: 2KM6
  • PDBsum: 2KM6
  • STRING: ENSP00000467123
• Other Databases: GeneCards:  NLRP7  Malacards:  NLRP7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050718	positive regulation of interleukin-1 beta secretion	IBA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010955	negative regulation of protein processing	IDA	biological process
GO:0019828	aspartic-type endopeptidase inhibitor activity	IDA	molecular function
GO:1905246	negative regulation of aspartic-type peptidase activity	IDA	biological process
GO:0071347	cellular response to interleukin-1	IEP	biological process
GO:0071222	cellular response to lipopolysaccharide	IEP	biological process
GO:0019966	interleukin-1 binding	IPI	molecular function
GO:1900016	negative regulation of cytokine production involved in inflammatory response	IMP	biological process
GO:0050713	negative regulation of interleukin-1 beta secretion	IMP	biological process
GO:0089720	caspase binding	IPI	molecular function
GO:0005575	cellular_component	ND	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Recurrent hydatidiform moles	KEGG:H00289
Recurrent hydatidiform moles	KEGG:H00289
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray