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

Gene name
MEFV, FMF, MEF, TRIM20
Definition
(RefSeq) MEFV, pyrin innate immunity regulator
  KO
K12803  pyrin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04621  NOD-like receptor 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)
 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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PYRIN PRY SPRY zf-B_box 7TMR-HDED
Motif
Other DBs
NCBI-GeneID: 4210
NCBI-ProteinID: NP_000234
OMIM: 608107
HGNC: 6998
Ensembl: ENSG00000103313
Vega: OTTHUMG00000129324
Pharos: O15553(Tbio)
UniProt: O15553
Structure
PDB: 

Position
16p13.3
AA seq 781 aa AA seqDB search
MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTY
YGEEYAVQLTLQVLRAINQRLLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKT
PDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSKRREKASEGLDAQGKPRTRSP
ALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKECRPFEVYLPSGKMRP
RSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARPTPDGGASADLKEGPGNPEH
SVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHE
RKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHK
KKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFF
VASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKT
VPVPEKWTTPQEIKQKIQLLHQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNV
ILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVG
DKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGI
FVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGP
D
NT seq 2346 nt NT seq  +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
gaaatggaaatgttcaatgttccagagctgattggcgctcaggcacatgctgttaatgtg
attctggatgcagaaaccgcttaccccaacctcatcttctctgatgatctgaagagtgtt
agacttggaaacaagtgggagaggctgcctgatggcccgcaaagatttgacagctgtatc
attgttctgggctctccgagtttcctctctggccgccgttactgggaggtggaggttgga
gacaagacagcatggatcctgggagcctgcaagacatccataagcaggaaagggaacatg
actctgtcgccagagaatggctactgggtggtgataatgatgaaggaaaatgagtaccag
gcgtccagcgttcccccgacccgcctgctaataaaggagcctcccaagcgtgtgggcatc
ttcgtggactacagagttggaagcatctccttttacaatgtgacagccagatcccacatc
tatacattcgccagctgctctttctctgggccccttcaacctatcttcagccctgggaca
cgtgatggagggaagaacacagctcctctgactatctgtccagtgggtggtcaggggcct
gactga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (38)   
   KEGG ORTHOLOGY (1)   
   RefGene (29)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (26)   
   RefSeq(nuc) (4)   
   GenBank (11)   
   EMBL (11)   
Protein domain (5)   
   Pfam (5)   
All databases (83)   

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