ID F5H6N9_HUMAN Unreviewed; 490 AA. AC F5H6N9; DT 28-JUN-2011, integrated into UniProtKB/TrEMBL. DT 28-JUN-2011, sequence version 1. DT 27-MAR-2024, entry version 86. DE SubName: Full=MEFV innate immunity regulator, pyrin {ECO:0000313|Ensembl:ENSP00000437486.1}; GN Name=MEFV {ECO:0000313|Ensembl:ENSP00000437486.1}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000437486.1, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000437486.1, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15616553; DOI=10.1038/nature03187; RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M., RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., RA Myers R.M., Rubin E.M., Pennacchio L.A.; RT "The sequence and analysis of duplication-rich human chromosome 16."; RL Nature 432:988-994(2004). RN [2] {ECO:0000313|Ensembl:ENSP00000437486.1} RP IDENTIFICATION. RG Ensembl; RL Submitted (NOV-2023) to UniProtKB. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AJ003147; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR AlphaFoldDB; F5H6N9; -. DR SMR; F5H6N9; -. DR MassIVE; F5H6N9; -. DR PeptideAtlas; F5H6N9; -. DR ProteomicsDB; 27244; -. DR Ensembl; ENST00000538326.5; ENSP00000437486.1; ENSG00000103313.14. DR UCSC; uc059pwp.1; human. DR HGNC; HGNC:6998; MEFV. DR VEuPathDB; HostDB:ENSG00000103313; -. DR GeneTree; ENSGT00940000161955; -. DR ChiTaRS; MEFV; human. DR Proteomes; UP000005640; Chromosome 16. DR Bgee; ENSG00000103313; Expressed in buccal mucosa cell and 105 other cell types or tissues. DR ExpressionAtlas; F5H6N9; baseline and differential. DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro. DR CDD; cd19771; Bbox2_TRIM20; 1. DR CDD; cd08321; Pyrin_ASC-like; 1. DR Gene3D; 3.30.160.60; Classic Zinc Finger; 1. DR Gene3D; 1.10.533.10; Death Domain, Fas; 1. DR InterPro; IPR004020; DAPIN. DR InterPro; IPR011029; DEATH-like_dom_sf. DR InterPro; IPR000315; Znf_B-box. DR PANTHER; PTHR24103; E3 UBIQUITIN-PROTEIN LIGASE TRIM; 1. DR PANTHER; PTHR24103:SF606; PYRIN; 1. DR Pfam; PF02758; PYRIN; 1. DR Pfam; PF00643; zf-B_box; 1. DR SMART; SM00336; BBOX; 1. DR SMART; SM01289; PYRIN; 1. DR SUPFAM; SSF57845; B-box zinc-binding domain; 1. DR SUPFAM; SSF47986; DEATH domain; 1. DR PROSITE; PS50824; DAPIN; 1. DR PROSITE; PS50119; ZF_BBOX; 1. PE 1: Evidence at protein level; KW Metal-binding {ECO:0000256|PROSITE-ProRule:PRU00024}; KW Proteomics identification {ECO:0007829|MaxQB:F5H6N9, KW ECO:0007829|PeptideAtlas:F5H6N9}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Zinc {ECO:0000256|PROSITE-ProRule:PRU00024}; KW Zinc-finger {ECO:0000256|PROSITE-ProRule:PRU00024}. FT DOMAIN 1..92 FT /note="Pyrin" FT /evidence="ECO:0000259|PROSITE:PS50824" FT DOMAIN 370..412 FT /note="B box-type" FT /evidence="ECO:0000259|PROSITE:PS50119" FT REGION 93..226 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 247..322 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 336..373 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 93..115 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 154..171 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 338..352 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" SQ SEQUENCE 490 AA; 53684 MW; 4D272D3014F33D84 CRC64; MAKTPSDHLL STLEELVPYD FEKFKFKLQN TSVQKEHSRI PRSQIQRARP VKMATLLVTY YGEEYAVQLT LQVLRAINQR LLAEELHRAA IQEYSTQENG TDDSAASSSL GENKPRSLKT PDHPEGNEGN GPRPYGGGAA SLRCSQPEAG RGLSRKPLSK RREKASEGLD AQGKPRTRSP ALPGGRSPGP CRALEGGQAE VRLRRNASSA GRLQGLAGGA PGQKECRPFE VYLPSGKMRP RSLEVTISTG EKAPANPEIL LTLEEKTAAN LDSATEPRAR PTPDGGASAD LKEGPGNPEH SVTGRPPDTA ASPRCHAQEG DPVDGTCVRD SCSFPEAVSG HPQASGSRSP GCPRCQDSHE RKSPGSLSPQ PLPQCKRHLK QVQLLFCEDH DEPICLICSL SQEHQGHRVR PIEEVALEHK KKIQKQLEHL KKLRKSGEEQ RSYGEEKAVS FLVVVQWCDL GSLQPLPPGF KRFSCLSLLS SWDYRNKLKR //