KEGG   Homo sapiens (human): 4210
Entry
4210              CDS       T01001                                 

Gene name
MEFV, FMF, MEF, PAAND, TRIM20
Definition
(RefSeq) MEFV innate immuity regulator, pyrin
  KO
K12803  pyrin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04621  NOD-like receptor signaling pathway
hsa05135  Yersinia infection
Network
nt06139  NLR signaling (viruses and bacteria)
  Element
N00866  Yersinia YopM to Pyrin Inflammasome signaling pathway
N00868  Pyrin Inflammasome signaling pathway
Disease
H00288  Familial Mediterranean fever
H01516  Adult onset Still disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    4210 (MEFV)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05135 Yersinia infection
    4210 (MEFV)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    4210 (MEFV)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   TRIM-directed selective autophagy
    4210 (MEFV)
SSDB
Motif
Pfam: PYRIN PRY SPRY zf-B_box 7TMR-HDED
Other DBs
NCBI-GeneID: 4210
NCBI-ProteinID: NP_000234
OMIM: 608107
HGNC: 6998
Ensembl: ENSG00000103313
Vega: OTTHUMG00000129324
Pharos: O15553(Tbio)
UniProt: O15553
LinkDB
Structure
PDB: 
2WL1 4CG4 2MPC

Position
16p13.3
AA seq 781 aa
MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTY
YGEEYAVQLTLQVLRAINQRLLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKT
PDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSKRREKASEGLDAQGKPRTRSP
ALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKECRPFEVYLPSGKMRP
RSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARPTPDGGASADLKEGPGNPEH
SVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHE
RKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHK
KKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFF
VASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKT
VPVPEKWTTPQEIKQKIQLLHQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNV
ILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVG
DKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGI
FVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGP
D
NT seq 2346 nt   +upstreamnt  +downstreamnt
atggctaagacccctagtgaccatctgctgtccaccctggaggagctggtgccctatgac
ttcgagaagttcaagttcaagctgcagaacaccagtgtgcagaaggagcactccaggatc
ccccggagccagatccagagagccaggccggtgaagatggccactctgctggtcacctac
tatggggaagagtacgccgtgcagctcaccctgcaggtcctgcgggccatcaaccagcgc
ctgctggccgaggagctccacagggcagccattcaggaatattccacacaagaaaacggc
acagatgattccgcagcgtccagctccctgggggagaacaagcccaggagcctgaagact
ccagaccaccccgaggggaacgaggggaacggccctcggccgtacgggggcggagctgcc
agcctgcggtgcagccagcccgaggccgggagggggctgtcgaggaagcccctgagcaaa
cgcagagagaaggcctcggagggcctggacgcgcagggcaagcctcggacccggagcccg
gccctgccgggcgggagaagccccggcccctgcagggcgctagaggggggccaggccgag
gtccggctgcgcagaaacgccagctccgcggggaggctgcaggggctggcggggggcgcc
ccggggcagaaggagtgcaggcccttcgaagtgtacctgccctcgggaaagatgcgacct
agaagccttgaggtcaccatttctacaggggagaaggcgcccgcaaatccagaaattctc
ctgactctagaggaaaagacagctgcgaatctggactcggcaacagaaccccgggcaagg
cccactccggatggaggggcatctgcggacctgaaggaaggccctggaaatccagaacat
tcggtcaccggaaggccaccagacacggctgcgagtccccgctgccacgcccaggaagga
gacccagttgacggtacctgtgtgcgtgattcctgcagcttccccgaggcagtttctggg
cacccccaggcctcaggcagccgctcacctggctgcccccggtgccaggactcccatgaa
aggaagagcccgggaagcctaagcccccagcccctgccacagtgtaagcgccacctgaag
caggtccagctgctcttctgtgaggatcacgatgagcccatctgcctcatctgcagtctg
agtcaggagcaccaaggccaccgggtgcgccccattgaggaggtcgccctggaacacaag
aagaaaattcagaagcagctggagcatctgaagaagctgagaaaatcaggggaggagcag
cgatcctatggggaggagaaggcagtgagctttctgaaacaaactgaagcgctgaagcag
cgggtgcagaggaagctggagcaggtgtactacttcctggagcagcaagagcatttcttt
gtggcctcactggaggacgtgggccagatggttgggcagatcaggaaggcatatgacacc
cgcgtatcccaggacatcgccctgctcgatgcgctgattggggaactggaggccaaggag
tgccagtcagaatgggaacttctgcaggacattggagacatcttgcacagggctaagaca
gtgcctgtccctgaaaagtggaccactcctcaagagataaaacaaaagatccaactcctc
caccagaagtcagagtttgtggagaagagcacaaagtacttctcagaaaccctgcgttca
gaaatggaaatgttcaatgttccggagctgattggcgctcaggcacatgctgttaatgtg
attctggatgcagaaaccgcttaccccaacctcatcttctctgatgatctgaagagtgtt
agacttggaaacaagtgggagaggctgcctgatggcccgcaaagatttgacagctgtatc
attgttctgggctctccgagtttcctctctggccgccgttactgggaggtggaggttgga
gacaagacagcatggatcctgggagcctgcaagacatccataagcaggaaagggaacatg
actctgtcgccagagaatggctactgggtggtgataatgatgaaggaaaatgagtaccag
gcgtccagcgttcccccgacccgcctgctaataaaggagcctcccaagcgtgtgggcatc
ttcgtggactacagagttggaagcatctccttttacaatgtgacagccagatcccacatc
tatacattcgccagctgctctttctctgggccccttcaacctatcttcagccctgggaca
cgtgatggagggaagaacacagctcctctgactatctgtccagtgggtggtcaggggcct
gactga

KEGG   Homo sapiens (human): 29108
Entry
29108             CDS       T01001                                 

Gene name
PYCARD, ASC, CARD5, TMS, TMS-1, TMS1
Definition
(RefSeq) PYD and CARD domain containing
  KO
K12799  apoptosis-associated speck-like protein containing a CARD
Organism
hsa  Homo sapiens (human)
Pathway
hsa04217  Necroptosis
hsa04621  NOD-like receptor signaling pathway
hsa04623  Cytosolic DNA-sensing pathway
hsa04625  C-type lectin receptor signaling pathway
hsa05130  Pathogenic Escherichia coli infection
hsa05131  Shigellosis
hsa05132  Salmonella infection
hsa05133  Pertussis
hsa05134  Legionellosis
hsa05135  Yersinia infection
hsa05164  Influenza A
Network
nt06139  NLR signaling (viruses and bacteria)
nt06170  Influenza A virus (IAV)
  Element
N00742  NLRP3 Inflammasome signaling pathway
N00743  IAV NS1 to NLRP3 inflammasome signaling pathway
N00864  Yersinia YopK to NLRP3 Inflammasome signaling pathway
N00865  Yersinia YopK to NLRC4 Inflammasome signaling pathway
N00866  Yersinia YopM to Pyrin Inflammasome signaling pathway
N00867  NLRC4 Inflammasome signaling pathway
N00868  Pyrin Inflammasome signaling pathway
N00933  Escherichia NleA to NLRP3 inflammasome signaling pathway
N00934  Non-canonical inflammasome signaling pathway
N00948  Shigella IpaH7.8 to NLRP3 Inflammasome signaling pathway
N00949  Shigella IpaB to NLRC4 Inflammasome signaling pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04217 Necroptosis
    29108 (PYCARD)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    29108 (PYCARD)
   04623 Cytosolic DNA-sensing pathway
    29108 (PYCARD)
   04625 C-type lectin receptor signaling pathway
    29108 (PYCARD)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05130 Pathogenic Escherichia coli infection
    29108 (PYCARD)
   05132 Salmonella infection
    29108 (PYCARD)
   05131 Shigellosis
    29108 (PYCARD)
   05135 Yersinia infection
    29108 (PYCARD)
   05133 Pertussis
    29108 (PYCARD)
   05134 Legionellosis
    29108 (PYCARD)
  09172 Infectious disease: viral
   05164 Influenza A
    29108 (PYCARD)
SSDB
Motif
Pfam: CARD PYRIN
Other DBs
NCBI-GeneID: 29108
NCBI-ProteinID: NP_037390
OMIM: 606838
HGNC: 16608
Ensembl: ENSG00000103490
Vega: OTTHUMG00000176753
Pharos: Q9ULZ3(Tbio)
UniProt: Q9ULZ3
LinkDB
Structure
PDB: 
6N1H 3J63 5H8O 2KN6 1UCP

Position
16p11.2
AA seq 195 aa
MGRARDAILDALENLTAEELKKFKLKLLSVPLREGYGRIPRGALLSMDALDLTDKLVSFY
LETYGAELTANVLRDMGLQEMAGQLQAATHQGSGAAPAGIQAPPQSAAKPGLHFIDQHRA
ALIARVTNVEWLLDALYGKVLTDEQYQAVRAEPTNPSKMRKLFSFTPAWNWTCKDLLLQA
LRESQSYLVEDLERS
NT seq 588 nt   +upstreamnt  +downstreamnt
atggggcgcgcgcgcgacgccatcctggatgcgctggagaacctgaccgccgaggagctc
aagaagttcaagctgaagctgctgtcggtgccgctgcgcgagggctacgggcgcatcccg
cggggcgcgctgctgtccatggacgccttggacctcaccgacaagctggtcagcttctac
ctggagacctacggcgccgagctcaccgctaacgtgctgcgcgacatgggcctgcaggag
atggccgggcagctgcaggcggccacgcaccagggctctggagccgcgccagctgggatc
caggcccctcctcagtcggcagccaagccaggcctgcactttatagaccagcaccgggct
gcgcttatcgcgagggtcacaaacgttgagtggctgctggatgctctgtacgggaaggtc
ctgacggatgagcagtaccaggcagtgcgggccgagcccaccaacccaagcaagatgcgg
aagctcttcagtttcacaccagcctggaactggacctgcaaggacttgctcctccaggcc
ctaagggagtcccagtcctacctggtggaggacctggagcggagctga

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