ENSG00000167634


Homo sapiens

Features
Gene ID: ENSG00000167634
  
Biological name :NLRP7
  
Synonyms : NLR family pyrin domain containing 7 / NLRP7 / Q8WX94
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.42
Gene start: 54923509
Gene end: 54966312
  
Corresponding Affymetrix probe sets: 237461_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000468706
Ensembl peptide - ENSP00000468161
Ensembl peptide - ENSP00000468243
Ensembl peptide - ENSP00000329568
Ensembl peptide - ENSP00000339491
Ensembl peptide - ENSP00000465520
Ensembl peptide - ENSP00000467123
Ensembl peptide - ENSP00000467234
Ensembl peptide - ENSP00000467589
NCBI entrez gene - 199713     See in Manteia.
OMIM - 609661
RefSeq - XM_011526601
RefSeq - NM_206828
RefSeq - XM_006723075
RefSeq - XM_006723076
RefSeq - XM_011526596
RefSeq - XM_011526599
RefSeq - NM_001127255
RefSeq - NM_139176
swissprot - K7EPY3
swissprot - K7ER92
swissprot - K7ERG0
swissprot - K7EP54
swissprot - Q8WX94
Ensembl - ENSG00000167634
  
Related genetic diseases (OMIM): 231090 - Hydatidiform mole, recurrent, 1, 231090
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 FO704635.1ENSDARG00000105141Danio rerio
 nlrb5ENSDARG00000090699Danio rerio
 si:ch211-66k16.2ENSDARG00000095634Danio rerio
 si:ch211-66k16.28ENSDARG00000088423Danio rerio
 Nlrp2ENSMUSG00000035177Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NLRP2 / Q9NX02 / NLR family pyrin domain containing 2ENSG0000002255664
NLRP14 / Q86W24 / NLR family pyrin domain containing 14ENSG0000015807733
NLRP3 / Q96P20 / NLR family pyrin domain containing 3ENSG0000016271131
NLRP12 / P59046 / NLR family pyrin domain containing 12ENSG0000014240531
NLRP13 / Q86W25 / NLR family pyrin domain containing 13ENSG0000017357230
NLRP4 / Q96MN2 / NLR family pyrin domain containing 4ENSG0000016050530
NLRP9 / Q7RTR0 / NLR family pyrin domain containing 9ENSG0000018579229
NLRP5 / P59047 / NLR family pyrin domain containing 5ENSG0000017148728
NLRP8 / Q86W28 / NLR family pyrin domain containing 8ENSG0000017970928
NLRP1 / Q9C000 / NLR family pyrin domain containing 1ENSG0000009159228
NLRP11 / P59045 / NLR family pyrin domain containing 11ENSG0000017987327
NLRP6 / P59044 / NLR family pyrin domain containing 6ENSG0000017488525
NLRP10 / Q86W26 / NLR family pyrin domain containing 10ENSG0000018226116
RNH1 / P13489 / ribonuclease/angiogenin inhibitor 1ENSG0000002319110


Protein motifs (from Interpro)
Interpro ID Name
 IPR001611  Leucine-rich repeat
 IPR004020  DAPIN domain
 IPR007111  NACHT nucleoside triphosphatase
 IPR011029  Death-like domain superfamily
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0010955 negative regulation of protein processing IDA
 biological_processGO:0050713 negative regulation of interleukin-1 beta secretion IMP
 biological_processGO:0071222 cellular response to lipopolysaccharide IEP
 biological_processGO:0071347 cellular response to interleukin-1 IEP
 biological_processGO:1900016 negative regulation of cytokine production involved in inflammatory response IMP
 biological_processGO:1905246 negative regulation of aspartic-type peptidase activity IDA
 cellular_componentGO:0005575 cellular_component ND
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0019828 aspartic-type endopeptidase inhibitor activity IDA
 molecular_functionGO:0019966 interleukin-1 binding IPI
 molecular_functionGO:0089720 caspase binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000119 Genitourinary abnormality "The presence of any abnormality of the genitourinary system." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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