KEGG   Homo sapiens (human): 4210
Entry
4210              CDS       T01001                                 
Symbol
MEFV, FMF, MEF, PAAND, TRIM20
Name
(RefSeq) MEFV innate immunity regulator, pyrin
  KO
K12803  pyrin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04621  NOD-like receptor signaling pathway
hsa04623  Cytosolic DNA-sensing pathway
hsa05135  Yersinia infection
Network
nt06183  Yersinia
nt06521  NLR signaling
  Element
N00866  Yersinia YopM to Pyrin Inflammasome signaling pathway
N00868  Pyrin inflammasome signaling pathway
N01570  Regulation of Pyrin inflammasome signaling pathway, PSTPIP1
Disease
H00288  Familial Mediterranean fever
H02590  Acute febrile neutrophilic dermatosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    4210 (MEFV)
   04623 Cytosolic DNA-sensing 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: SPRY PYRIN PRY zf-B_box FUT8_N_cat
Other DBs
NCBI-GeneID: 4210
NCBI-ProteinID: NP_000234
OMIM: 608107
HGNC: 6998
Ensembl: ENSG00000103313
UniProt: O15553
Structure
Position
16:complement(3242027..3256633)
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

  All links  
Disease (4)   
   OMIM (4)   
Gene (34)   
   RefGene (29)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (24)   
   RefSeq(nuc) (2)   
   GenBank (11)   
   EMBL (11)   
3D Structure (9)   
   PDB (9)   
Protein domain (5)   
   Pfam (5)   
All databases (80)   

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