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
H02756  Congenital juvenile recurrent respiratory papillomatosis
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: NACHT FIIND UPA-FIIND NLRC4_HD2 CARD PYRIN LRR_6 NOD2_WH AAA_16 LRR_1 LRR_4 Birna_VP5 NPHP3_N NB-ARC AAA_22 AAA_14 AAA_30 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
LinkDB
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

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