KEGG   Homo sapiens (human): 22861
Entry
22861             CDS       T01001                                 
Symbol
NLRP1, AIADK, CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, JRRP, MSPC, NAC, NALP1, PP1044, SLEV1, VAMAS1
Name
(RefSeq) NLR family pyrin domain containing 1
  KO
K12798  NACHT, LRR and PYD domains-containing protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04621  NOD-like receptor signaling pathway
Network
nt06521  NLR signaling
  Element
N01567  NLRP1 inflammasome signaling pathway
Disease
H01372  Vitiligo
H02588  NLRP1-associated autoinflammation with arthritis and dyskeratosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    22861 (NLRP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    22861 (NLRP1)
  09183 Protein families: signaling and cellular processes
   04054 Pattern recognition receptors [BR:hsa04054]
    22861 (NLRP1)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   TRIM-directed selective autophagy
    22861 (NLRP1)
Pattern recognition receptors [BR:hsa04054]
 Cytoplasmic pattern recognition receptors
  NOD-like receptors
   22861 (NLRP1)
SSDB
Motif
Pfam: FIIND NACHT NLRC4_HD2 CARD PYRIN LRR_6 NOD2_WH AAA_16 LRR_1 LRR_4 Birna_VP5 NB-ARC AAA_30 AAA_22 AAA_14 nSTAND3 AAA_5 Zeta_toxin Herpes_U30
Other DBs
NCBI-GeneID: 22861
NCBI-ProteinID: NP_127497
OMIM: 606636
HGNC: 14374
Ensembl: ENSG00000091592
UniProt: Q9C000
Structure
Position
17:complement(5501396..5584509)
AA seq 1473 aa
MAGGAWGRLACYLEFLKKEELKEFQLLLANKAHSRSSSGETPAQPEKTSGMEVASYLVAQ
YGEQRAWDLALHTWEQMGLRSLCAQAQEGAGHSPSFPYSPSEPHLGSPSQPTSTAVLMPW
IHELPAGCTQGSERRVLRQLPDTSGRRWREISASLLYQALPSSPDHESPSQESPNAPTST
AVLGSWGSPPQPSLAPREQEAPGTQWPLDETSGIYYTEIREREREKSEKGRPPWAAVVGT
PPQAHTSLQPHHHPWEPSVRESLCSTWPWKNEDFNQKFTQLLLLQRPHPRSQDPLVKRSW
PDYVEENRGHLIEIRDLFGPGLDTQEPRIVILQGAAGIGKSTLARQVKEAWGRGQLYGDR
FQHVFYFSCRELAQSKVVSLAELIGKDGTATPAPIRQILSRPERLLFILDGVDEPGWVLQ
EPSSELCLHWSQPQPADALLGSLLGKTILPEASFLITARTTALQNLIPSLEQARWVEVLG
FSESSRKEYFYRYFTDERQAIRAFRLVKSNKELWALCLVPWVSWLACTCLMQQMKRKEKL
TLTSKTTTTLCLHYLAQALQAQPLGPQLRDLCSLAAEGIWQKKTLFSPDDLRKHGLDGAI
ISTFLKMGILQEHPIPLSYSFIHLCFQEFFAAMSYVLEDEKGRGKHSNCIIDLEKTLEAY
GIHGLFGASTTRFLLGLLSDEGEREMENIFHCRLSQGRNLMQWVPSLQLLLQPHSLESLH
CLYETRNKTFLTQVMAHFEEMGMCVETDMELLVCTFCIKFSRHVKKLQLIEGRQHRSTWS
PTMVVLFRWVPVTDAYWQILFSVLKVTRNLKELDLSGNSLSHSAVKSLCKTLRRPRCLLE
TLRLAGCGLTAEDCKDLAFGLRANQTLTELDLSFNVLTDAGAKHLCQRLRQPSCKLQRLQ
LVSCGLTSDCCQDLASVLSASPSLKELDLQQNNLDDVGVRLLCEGLRHPACKLIRLGLDQ
TTLSDEMRQELRALEQEKPQLLIFSRRKPSVMTPTEGLDTGEMSNSTSSLKRQRLGSERA
ASHVAQANLKLLDVSKIFPIAEIAEESSPEVVPVELLCVPSPASQGDLHTKPLGTDDDFW
GPTGPVATEVVDKEKNLYRVHFPVAGSYRWPNTGLCFVMREAVTVEIEFCVWDQFLGEIN
PQHSWMVAGPLLDIKAEPGAVEAVHLPHFVALQGGHVDTSLFQMAHFKEEGMLLEKPARV
ELHHIVLENPSFSPLGVLLKMIHNALRFIPVTSVVLLYHRVHPEEVTFHLYLIPSDCSIR
KAIDDLEMKFQFVRIHKPPPLTPLYMGCRYTVSGSGSGMLEILPKELELCYRSPGEDQLF
SEFYVGHLGSGIRLQVKDKKDETLVWEALVKPGDLMPATTLIPPARIAVPSPLDAPQLLH
FVDQYREQLIARVTSVEVVLDKLHGQVLSQEQYERVLAENTRPSQMRKLFSLSQSWDRKC
KDGLYQALKETHPHLIMELWEKGSKKGLLPLSS
NT seq 4422 nt   +upstreamnt  +downstreamnt
atggctggcggagcctggggccgcctggcctgttacttggagttcctgaagaaggaggag
ctgaaggagttccagcttctgctcgccaataaagcgcactccaggagctcttcgggtgag
acacccgctcagccagagaagacgagtggcatggaggtggcctcgtacctggtggctcag
tatggggagcagcgggcctgggacctagccctccatacctgggagcagatggggctgagg
tcactgtgcgcccaagcccaggaaggggcaggccactctccctcattcccctacagccca
agtgaaccccacctggggtctcccagccaacccacctccaccgcagtgctaatgccctgg
atccatgaattgccggcggggtgcacccagggctcagagagaagggttttgagacagctg
cctgacacatctggacgccgctggagagaaatctctgcctcactcctctaccaagctctt
ccaagctccccagaccatgagtctccaagccaggagtcacccaacgcccccacatccaca
gcagtgctggggagctggggatccccacctcagcccagcctagcacccagagagcaggag
gctcctgggacccaatggcctctggatgaaacgtcaggaatttactacacagaaatcaga
gaaagagagagagagaaatcagagaaaggcaggcccccatgggcagcggtggtaggaacg
cccccacaggcgcacaccagcctacagccccaccaccacccatgggagccttctgtgaga
gagagcctctgttccacatggccctggaaaaatgaggattttaaccaaaaattcacacag
ctgctacttctacaaagacctcaccccagaagccaagatcccctggtcaagagaagctgg
cctgattatgtggaggagaatcgaggacatttaattgagatcagagacttatttggccca
ggcctggatacccaagaacctcgcatagtcatactgcagggggctgctggaattgggaag
tcaacactggccaggcaggtgaaggaagcctgggggagaggccagctgtatggggaccgc
ttccagcatgtcttctacttcagctgcagagagctggcccagtccaaggtggtgagtctc
gctgagctcatcggaaaagatgggacagccactccggctcccattagacagatcctgtct
aggccagagcggctgctcttcatcctcgatggtgtagatgagccaggatgggtcttgcag
gagccgagttctgagctctgtctgcactggagccagccacagccggcggatgcactgctg
ggcagtttgctggggaaaactatacttcccgaggcatccttcctgatcacggctcggacc
acagctctgcagaacctcattccttctttggagcaggcacgttgggtagaggtcctgggg
ttctctgagtccagcaggaaggaatatttctacagatatttcacagatgaaaggcaagca
attagagcctttaggttggtcaaatcaaacaaagagctctgggccctgtgtcttgtgccc
tgggtgtcctggctggcctgcacttgcctgatgcagcagatgaagcggaaggaaaaactc
acactgacttccaagaccaccacaaccctctgtctacattaccttgcccaggctctccaa
gctcagccattgggaccccagctcagagacctctgctctctggctgctgagggcatctgg
caaaaaaagacccttttcagtccagatgacctcaggaagcatgggttagatggggccatc
atctccaccttcttgaagatgggtattcttcaagagcaccccatccctctgagctacagc
ttcattcacctctgtttccaagagttctttgcagcaatgtcctatgtcttggaggatgag
aaggggagaggtaaacattctaattgcatcatagatttggaaaagacgctagaagcatat
ggaatacatggcctgtttggggcatcaaccacacgtttcctattgggcctgttaagtgat
gagggggagagagagatggagaacatctttcactgccggctgtctcaggggaggaacctg
atgcagtgggtcccgtccctgcagctgctgctgcagccacactctctggagtccctccac
tgcttgtacgagactcggaacaaaacgttcctgacacaagtgatggcccatttcgaagaa
atgggcatgtgtgtagaaacagacatggagctcttagtgtgcactttctgcattaaattc
agccgccacgtgaagaagcttcagctgattgagggcaggcagcacagatcaacatggagc
cccaccatggtagtcctgttcaggtgggtcccagtcacagatgcctattggcagattctc
ttctccgtcctcaaggtcaccagaaacctgaaggagctggacctaagtggaaactcgctg
agccactctgcagtgaagagtctttgtaagaccctgagacgccctcgctgcctcctggag
accctgcggttggctggctgtggcctcacagctgaggactgcaaggaccttgcctttggg
ctgagagccaaccagaccctgaccgagctggacctgagcttcaatgtgctcacggatgct
ggagccaaacacctttgccagagactgagacagccgagctgcaagctacagcgactgcag
ctggtcagctgtggcctcacgtctgactgctgccaggacctggcctctgtgcttagtgcc
agccccagcctgaaggagctagacctgcagcagaacaacctggatgacgttggcgtgcga
ctgctctgtgaggggctcaggcatcctgcctgcaaactcatacgcctggggctggaccag
acaactctgagtgatgagatgaggcaggaactgagggccctggagcaggagaaacctcag
ctgctcatcttcagcagacggaaaccaagtgtgatgacccctactgagggcctggatacg
ggagagatgagtaatagcacatcctcactcaagcggcagagactcggatcagagagggcg
gcttcccatgttgctcaggctaatctcaaactcctggacgtgagcaagatcttcccaatt
gctgagattgcagaggaaagctccccagaggtagtaccggtggaactcttgtgcgtgcct
tctcctgcctctcaaggggacctgcatacgaagcctttggggactgacgatgacttctgg
ggccccacggggcctgtggctactgaggtagttgacaaagaaaagaacttgtaccgagtt
cacttccctgtagctggctcctaccgctggcccaacacgggtctctgctttgtgatgaga
gaagcggtgaccgttgagattgaattctgtgtgtgggaccagttcctgggtgagatcaac
ccacagcacagctggatggtggcagggcctctgctggacatcaaggctgagcctggagct
gtggaagctgtgcacctccctcactttgtggctctccaagggggccatgtggacacatcc
ctgttccaaatggcccactttaaagaggaggggatgctcctggagaagccagccagggtg
gagctgcatcacatagttctggaaaaccccagcttctcccccttgggagtcctcctgaaa
atgatccataatgccctgcgcttcattcccgtcacctctgtggtgttgctttaccaccgc
gtccatcctgaggaagtcaccttccacctctacctgatcccaagtgactgctccattcgg
aaggccatagatgatctagaaatgaaattccagtttgtgcgaatccacaagccacccccg
ctgaccccactttatatgggctgtcgttacactgtgtctgggtctggttcagggatgctg
gaaatactccccaaggaactggagctctgctatcgaagccctggagaagaccagctgttc
tcggagttctacgttggccacttgggatcagggatcaggctgcaagtgaaagacaagaaa
gatgagactctggtgtgggaggccttggtgaaaccaggagatctcatgcctgcaactact
ctgatccctccagcccgcatagccgtaccttcacctctggatgccccgcagttgctgcac
tttgtggaccagtatcgagagcagctgatagcccgagtgacatcggtggaggttgtcttg
gacaaactgcatggacaggtgctgagccaggagcagtacgagagggtgctggctgagaac
acgaggcccagccagatgcggaagctgttcagcttgagccagtcctgggaccggaagtgc
aaagatggactctaccaagccctgaaggagacccatcctcacctcattatggaactctgg
gagaagggcagcaaaaagggactcctgccactcagcagctga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (7)   
   KEGG DISEASE (2)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (54)   
   KEGG ORTHOLOGY (1)   
   RefGene (46)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (33)   
   RefSeq(nuc) (5)   
   GenBank (14)   
   EMBL (14)   
3D Structure (9)   
   PDB (9)   
Protein domain (19)   
   Pfam (19)   
All databases (136)   

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