Reviewed, UniProtKB/Swiss-Prot O15553 (MEFV_HUMAN)

Names and origin

Protein names

Recommended name:
    Pyrin
Alternative name(s):
    Marenostrin

Gene names

Name:	MEFV
Synonyms:	MEF

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	781 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization. Ref.6 Ref.8
Subunit structure	Interacts with PSTPIP1. Ref.9
Subcellular location	Isoform 1: Cytoplasm › cytoskeleton. Note: Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles. Ref.8 Ref.2 Ref.7 Isoform 2: Nucleus. Ref.8 Ref.2 Ref.7
Tissue specificity	Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesser extent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of leucocyte infiltration in these tissues. Not expressed in thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, liver, kidney, pancreas. Expression detected in several myeloid leukemic, colon cancer, and prostate cancer cell lines. Ref.6 Ref.2 Ref.7
Developmental stage	First detected in bone marrow promyelocytes. Expression increases throughout myelocyte differentiation and peaks in the mature myelomonocytic cells. Ref.6
Induction	In monocytes, by treatment with colchicine and IFN-alpha, and by the proinflammatory cytokines IFN-gamma, TNF-alpha and LPS. Repressed in monocytes by the antiinflammatory cytokines IL-10, TGF-beta and IL-4. In neutrophils, colchicine, TNF-alpha, LPS, IL-10, INF-alpha and IL-4 has no effect on expression. INF-gamma increases expression in neutrophils. Ref.6
Involvement in disease	Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]. ARFMF is an inherited disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. ARFMF is frequently complicated by amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. ARFMF primarily affects ancestral ethnic groups living around the Mediterranean basin: North African Jews, Armenians, Arabs and Turks. The disease is also distributed in other populations including Greeks, Cypriots, Italians and Spanish, although at a lower prevalence. Ref.1 Ref.4 Ref.5 Ref.10 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.19 Ref.20 Ref.25 Ref.26 Ref.27 Defects in MEFV are the cause of familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]. ADFMF is characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with renal amyloidosis and characterized by colchicine unresponsiveness.
Sequence similarities	Contains 1 B box-type zinc finger. Contains 1 B30.2/SPRY domain. Contains 1 DAPIN domain.

Ontologies

Keywords
Biological process	Inflammatory response
Cellular component	Cytoplasm Cytoskeleton Microtubule Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Amyloidosis Disease mutation
Domain	Zinc-finger
Ligand	Actin-binding Metal-binding Zinc
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	inflammatory response Ref.8 Inferred from direct assay. Source: UniProtKB
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW microtubule Inferred from electronic annotation. Source: UniProtKB-KW microtubule associated complex Ref.8 Inferred from direct assay. Source: UniProtKB nucleus Ref.2 Inferred from direct assay. Source: UniProtKB
Molecular function	actin binding Ref.8 Inferred from direct assay. Source: UniProtKB zinc ion binding Ref.2 Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O15553-2)

Also known as: FL;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Note: Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles. Ref.8 Ref.2 Ref.7

Isoform 2 (identifier: O15553-1)

Also known as: D2;

The sequence of this isoform differs from the canonical sequence as follows:
     93-303: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 781	781	Pyrin		PRO_0000220364
Regions
	Domain	1 – 92	92	DAPIN
	Domain	580 – 775	196	B30.2/SPRY
	Zinc finger	370 – 412	43	B box-type
	Motif	420 – 437	18	Nuclear localization signal Potential
Natural variations
	Alternative sequence	93 – 303	211	Missing in isoform 2.		VSP_008223
	Natural variant	33	1	V → L: dbSNP rs11466016.		VAR_048398
	Natural variant	42	1	R → W in arFMF.		VAR_028326
	Natural variant	108	1	S → R in arFMF. Ref.26		VAR_028327
	Natural variant	110	1	L → P in arFMF. dbSNP rs11466018. Ref.19		VAR_016824
	Natural variant	138	1	G → A Association with renal amyloidosis. Ref.22		VAR_016825
	Natural variant	148	1	E → Q in arFMF and adFMF; common mutation; associated with S-369 and Q-408 in cis; associated with I-694 in some patients. dbSNP rs3743930. Ref.15 Ref.17 Ref.19 Ref.26 Ref.21 Ref.18		VAR_009051
	Natural variant	148	1	E → V in arFMF. Ref.26		VAR_028328
	Natural variant	163	1	E → A in arFMF. Ref.25		VAR_028329
	Natural variant	167	1	E → D in arFMF. Ref.26		VAR_009052
	Natural variant	177	1	T → I in arFMF. Ref.26		VAR_028330
	Natural variant	202	1	R → Q: dbSNP rs224222. Ref.12 Ref.3		VAR_009053
	Natural variant	230	1	E → K in arFMF. Ref.5		VAR_016826
	Natural variant	267	1	T → I in arFMF. Ref.26		VAR_009054
	Natural variant	319	1	E → K in arFMF. Ref.25		VAR_028331
	Natural variant	369	1	P → S in arFMF; reduced penetrance among Ashkenazi Jews; associated with Q-148 and Q-408 in cis; could be a polymorphism. dbSNP rs11466023. Ref.15		VAR_009055
	Natural variant	408	1	R → Q in arFMF; associated with Q-148 and S-369 in cis; could be a polymorphism. dbSNP rs11466024. Ref.15		VAR_009056
	Natural variant	440	1	Q → E: dbSNP rs11466026.		VAR_024376
	Natural variant	474	1	E → K in arFMF. Ref.26		VAR_028332
	Natural variant	478	1	H → Y in adFMF; severe. Ref.24		VAR_028333
	Natural variant	479	1	F → L in arFMF. Ref.15 Ref.26		VAR_009057
	Natural variant	585	1	F → L: dbSNP rs11466043.		VAR_028334
	Natural variant	591	1	I → T in arFMF; could be a polymorphism. dbSNP rs11466045. Ref.23		VAR_016827
	Natural variant	632	1	G → S in arFMF. Ref.27		VAR_028335
	Natural variant	640	1	I → M in arFMF. Ref.27		VAR_028336
	Natural variant	641	1	I → F in arFMF. Ref.27		VAR_028337
	Natural variant	646	1	P → L in arFMF. Ref.27		VAR_028338
	Natural variant	649	1	L → P in arFMF. Ref.27		VAR_028339
	Natural variant	653	1	R → H in arFMF. Ref.5 Ref.26 Ref.27		VAR_016828
	Natural variant	656	1	E → A in arFMF. Ref.27		VAR_028340
	Natural variant	661	1	D → N in arFMF. Ref.27		VAR_028341
	Natural variant	675	1	S → N in arFMF. Ref.20 Ref.27		VAR_016829
	Natural variant	678	1	G → E in arFMF. Ref.27		VAR_028342
	Natural variant	680	1	M → I in arFMF and adFMF. dbSNP rs28940580. Ref.1 Ref.4 Ref.13 Ref.15 Ref.16 Ref.17 Ref.26 Ref.21		VAR_028343
	Natural variant	680	1	M → L in arFMF. Ref.20 Ref.27		VAR_016830
	Natural variant	681	1	T → I in arFMF. Ref.13 Ref.27		VAR_009059
	Natural variant	688	1	Y → C in arFMF. Ref.27		VAR_028344
	Natural variant	692	1	Missing in arFMF.		VAR_009060
	Natural variant	694	1	M → I in arFMF and adFMF; associated with Q-148 in some patients. dbSNP rs28940578. Ref.4 Ref.13 Ref.16 Ref.17 Ref.26 Ref.27 Ref.21		VAR_009061
	Natural variant	694	1	M → L in arFMF. Ref.27		VAR_028345
	Natural variant	694	1	M → V in arFMF and adFMF; very common mutation particularly in North African Jews; can be associated with amyloidosis development. Ref.1 Ref.13 Ref.15 Ref.16 Ref.17 Ref.19 Ref.26 Ref.27 Ref.21		VAR_009062
	Natural variant	694	1	Missing in arFMF and adFMF.		VAR_009063
	Natural variant	695	1	K → M in arFMF. Ref.27		VAR_028346
	Natural variant	695	1	K → R in arFMF; reduced penetrance among Ashkenazi Jews. Ref.17 Ref.26 Ref.27		VAR_009064
	Natural variant	702	1	S → C in one patient with familial Mediterranean fever. Ref.27		VAR_028347
	Natural variant	704	1	V → I in arFMF. Ref.27		VAR_028348
	Natural variant	705	1	P → S in arFMF. Ref.27		VAR_028349
	Natural variant	720	1	I → M in arFMF. Ref.26 Ref.27		VAR_028350
	Natural variant	726	1	V → A in arFMF; common mutation; in Iraqi and Ashkenazi Jews, Druze, Armenians. dbSNP rs28940579. Ref.1 Ref.13 Ref.15 Ref.16 Ref.17 Ref.26 Ref.27		VAR_009065
	Natural variant	743	1	F → L in arFMF. Ref.27		VAR_028351
	Natural variant	744	1	A → S in arFMF; uncertain pathological significance. Ref.25 Ref.26 Ref.27		VAR_009066
	Natural variant	758	1	P → S in arFMF. Ref.27		VAR_028352
	Natural variant	761	1	R → H in arFMF. Ref.15 Ref.17 Ref.26 Ref.27		VAR_009067
	Natural variant	780	1	P → T in arFMF. Ref.27		VAR_028353

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (FL) [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 3692E5E6E9FC8204	FASTA	781	86,444
	10 20 30 40 50 60 MAKTPSDHLL STLEELVPYD FEKFKFKLQN TSVQKEHSRI PRSQIQRARP VKMATLLVTY 70 80 90 100 110 120 YGEEYAVQLT LQVLRAINQR LLAEELHRAA IQEYSTQENG TDDSAASSSL GENKPRSLKT 130 140 150 160 170 180 PDHPEGNEGN GPRPYGGGAA SLRCSQPEAG RGLSRKPLSK RREKASEGLD AQGKPRTRSP 190 200 210 220 230 240 ALPGGRSPGP CRALEGGQAE VRLRRNASSA GRLQGLAGGA PGQKECRPFE VYLPSGKMRP 250 260 270 280 290 300 RSLEVTISTG EKAPANPEIL LTLEEKTAAN LDSATEPRAR PTPDGGASAD LKEGPGNPEH 310 320 330 340 350 360 SVTGRPPDTA ASPRCHAQEG DPVDGTCVRD SCSFPEAVSG HPQASGSRSP GCPRCQDSHE 370 380 390 400 410 420 RKSPGSLSPQ PLPQCKRHLK QVQLLFCEDH DEPICLICSL SQEHQGHRVR PIEEVALEHK 430 440 450 460 470 480 KKIQKQLEHL KKLRKSGEEQ RSYGEEKAVS FLKQTEALKQ RVQRKLEQVY YFLEQQEHFF 490 500 510 520 530 540 VASLEDVGQM VGQIRKAYDT RVSQDIALLD ALIGELEAKE CQSEWELLQD IGDILHRAKT 550 560 570 580 590 600 VPVPEKWTTP QEIKQKIQLL HQKSEFVEKS TKYFSETLRS EMEMFNVPEL IGAQAHAVNV 610 620 630 640 650 660 ILDAETAYPN LIFSDDLKSV RLGNKWERLP DGPQRFDSCI IVLGSPSFLS GRRYWEVEVG 670 680 690 700 710 720 DKTAWILGAC KTSISRKGNM TLSPENGYWV VIMMKENEYQ ASSVPPTRLL IKEPPKRVGI 730 740 750 760 770 780 FVDYRVGSIS FYNVTARSHI YTFASCSFSG PLQPIFSPGT RDGGKNTAPL TICPVGGQGP D
	Isoform 2 (D2). Checksum: 34C7379A052C74EF	FASTA	570	64,494
	10 20 30 40 50 60 MAKTPSDHLL STLEELVPYD FEKFKFKLQN TSVQKEHSRI PRSQIQRARP VKMATLLVTY 70 80 90 100 110 120 YGEEYAVQLT LQVLRAINQR LLAEELHRAA IQGRPPDTAA SPRCHAQEGD PVDGTCVRDS 130 140 150 160 170 180 CSFPEAVSGH PQASGSRSPG CPRCQDSHER KSPGSLSPQP LPQCKRHLKQ VQLLFCEDHD 190 200 210 220 230 240 EPICLICSLS QEHQGHRVRP IEEVALEHKK KIQKQLEHLK KLRKSGEEQR SYGEEKAVSF 250 260 270 280 290 300 LKQTEALKQR VQRKLEQVYY FLEQQEHFFV ASLEDVGQMV GQIRKAYDTR VSQDIALLDA 310 320 330 340 350 360 LIGELEAKEC QSEWELLQDI GDILHRAKTV PVPEKWTTPQ EIKQKIQLLH QKSEFVEKST 370 380 390 400 410 420 KYFSETLRSE MEMFNVPELI GAQAHAVNVI LDAETAYPNL IFSDDLKSVR LGNKWERLPD 430 440 450 460 470 480 GPQRFDSCII VLGSPSFLSG RRYWEVEVGD KTAWILGACK TSISRKGNMT LSPENGYWVV 490 500 510 520 530 540 IMMKENEYQA SSVPPTRLLI KEPPKRVGIF VDYRVGSISF YNVTARSHIY TFASCSFSGP 550 560 570 LQPIFSPGTR DGGKNTAPLT ICPVGGQGPD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever." Aksentijevich I., Centola M., Deng Z., Sood R., Balow J.E. Jr., Wood G., Zaks N., Mansfield E., Chen X., Eisenberg S., Vedula A., Shafran N., Raben N., Pras E., Pras M., Kastner D.L., Blake T., Baxevanis A.D. , Robbins C., Krizman D., Collins F.S., Liu P.P., Chen X., Shohat M., Hamon M., Kahan T., Cercek A., Rotter J.I., Fischel-Ghodsian N., Richards N., Shelton D.A., Gumucio D., Yokoyama Y., Mangelsdorf M., Orsborn A., Richards R.I., Ricke D.O., Buckingham J.M., Moyzis R.K., Deaven L.L., Doggett N.A. Cell 90:797-807(1997) [PubMed: 9288758] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ARFMF ILE-680; VAL-694 AND ALA-726. Tissue: Leukocyte.
[2]	"Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus." Papin S., Duquesnoy P., Cazeneuve C., Pantel J., Coppey-Moisan M., Dargemont C., Amselem S. Hum. Mol. Genet. 9:3001-3009(2000) [PubMed: 11115844] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION. Tissue: Leukocyte.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLN-202. Tissue: Placenta.
[4]	"A candidate gene for familial Mediterranean fever." Bernot A., Clepet C., Dasilva C., Devaud C., Petit J.-L., Caloustian C., Cruaud C., Samson D., Pulcini F., Weissenbach J., Heilig R., Notanicola C., Domingo C., Rozenbaum M., Benchetrit E., Topaloglu R., Dewalle M., Dross C. , Hadjari P., Dupont M., Demaille J.G., Touitou I., Smaoui N., Nedelec B., Mery J.-P., Chaabouni H., Delpech M., Grateau G. Nat. Genet. 17:25-31(1997) [PubMed: 9288094] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 305-754, VARIANTS ARFMF ILE-680 AND ILE-694.
[5]	"Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease." Timmann C., Muntau B., Kuhne K., Gelhaus A., Horstmann R.D. Mutat. Res. 479:235-239(2001) [PubMed: 11470495] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-303 AND 599-781, VARIANTS ARFMF LYS-230 AND HIS-653. Tissue: Blood.
[6]	"The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators." Centola M., Wood G., Frucht D.M., Galon J., Aringer M., Farrell C., Kingma D.W., Horwitz M.E., Mansfield E., Holland S.M., O'Shea J.J., Rosenberg H.F., Malech H.L., Kastner D.L. Blood 95:3223-3231(2000) [PubMed: 10807793] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INDUCTION.
[7]	"Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin." Tidow N., Chen X., Muller C., Kawano S., Gombart A.F., Fischel-Ghodsian N., Koeffler H.P. Blood 95:1451-1455(2000) [PubMed: 10666224] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[8]	"The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments." Mansfield E., Chae J.J., Komarow H.D., Brotz T.M., Frucht D.M., Aksentijevich I., Kastner D.L. Blood 98:851-859(2001) [PubMed: 11468188] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[9]	"Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway." Shoham N.G., Centola M., Mansfield E., Hull K.M., Wood G., Wise C.A., Kastner D.L. Proc. Natl. Acad. Sci. U.S.A. 100:13501-13506(2003) [PubMed: 14595024] [Abstract] Cited for: INTERACTION WITH PSTPIP1.
[10]	"Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever." Notarnicola C., Didelot M.-N., Kone-Paut I., Seguret F., Demaille J., Touitou I. Arthritis Rheum. 46:2785-2793(2002) [PubMed: 12384939] [Abstract] Cited for: DISEASE.
[11]	"The spectrum of familial mediterranean fever (FMF) mutations." Touitou I. Eur. J. Hum. Genet. 9:473-483(2001) [PubMed: 11464238] [Abstract] Cited for: REVIEW ON ARFMF VARIANTS.
[12]	"Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)." Bernot A., da Silva C., Petit J.-L., Cruaud C., Caloustian C., Castet V., Ahmed-Arab M., Dross C., Dupont M., Cattan D., Smaoui N., Dode C., Pecheux C., Nedelec B., Medaxian J., Rozenbaum M., Rosner I., Delpech M. , Grateau G., Demaille J., Weissenbach J., Touitou I. Hum. Mol. Genet. 7:1317-1325(1998) [PubMed: 9668175] [Abstract] Cited for: VARIANTS ARFMF, VARIANT GLN-202.
[13]	"Pyrin/marenostrin mutations in familial Mediterranean fever." Booth D.R., Gillmore J.D., Booth S.E., Pepys M.B., Hawkins P.N. QJM 91:603-606(1998) [PubMed: 10024914] [Abstract] Cited for: VARIANTS ARFMF ILE-680; ILE-681; ILE-694; VAL-694; MET-694 DEL AND ALA-726.
[14]	"Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population." Aksentijevich I., Torosyan Y., Samuels J., Centola M., Pras E., Chae J.J., Oddoux C., Wood G., Azzaro M.P., Palumbo G., Giustolisi R., Pras M., Ostrer H., Kastner D.L. Am. J. Hum. Genet. 64:949-962(1999) [PubMed: 10090880] [Abstract] Cited for: VARIANTS ARFMF.
[15]	"MEFV-Gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications." Cazeneuve C., Sarkisian T., Pecheux C., Dervichian M., Nedelec B., Reinert P., Ayvazyan A., Kouyoumdjian J.-C., Ajrapetyan H., Delpech M., Goossens M., Dode C., Grateau G., Amselem S. Am. J. Hum. Genet. 65:88-97(1999) [PubMed: 10364520] [Abstract] Cited for: VARIANTS ARFMF GLN-148; SER-369; GLN-408; LEU-479; ILE-680; VAL-694; ALA-726 AND HIS-761.
[16]	"Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis." Shohat M., Magal N., Shohat T., Chen X., Dagan T., Mimouni A., Danon Y., Lotan R., Ogur G., Sirin A., Schlezinger M., Halpern G.J., Schwabe A., Kastner D., Rotter J.I., Fischel-Ghodsian N. Eur. J. Hum. Genet. 7:287-292(1999) [PubMed: 10234504] [Abstract] Cited for: VARIANTS ARFMF ILE-680; ILE-694; VAL-694 AND ALA-726.
[17]	"MEFV mutations in Turkish patients suffering from familial Mediterranean fever." Akar N., Misiroglu M., Yalcinkaya F., Akar E., Cakar N., Tumer N., Akcakus M., Tastan H., Matzner Y. Hum. Mutat. 15:118-119(2000) [PubMed: 10612841] [Abstract] Cited for: VARIANTS ARFMF GLN-148; ILE-680; ILE-694; VAL-694; ARG-695; ALA-726 AND HIS-761.
[18]	"The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?" Ben-Chetrit E., Lerer I., Malamud E., Domingo C., Abeliovich D. Hum. Mutat. 15:385-386(2000) [PubMed: 10737995] [Abstract] Cited for: VARIANT GLN-148.
[19]	"Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity." Domingo C., Touitou I., Bayou A., Ozen S., Notarnicola C., Dewalle M., Demaille J., Buades R., Sayadat C., Levy M., Ben-Chetrit E. Eur. J. Hum. Genet. 8:242-246(2000) [PubMed: 10854105] [Abstract] Cited for: VARIANTS ARFMF PRO-110; GLN-148 AND VAL-694.
[20]	"Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever." Dode C., Pecheux C., Cazeneuve C., Cattan D., Dervichian M., Goossens M., Delpech M., Amselem S., Grateau G. Am. J. Med. Genet. 92:241-246(2000) [PubMed: 10842288] [Abstract] Cited for: VARIANTS ARFMF ASN-675 AND LEU-680.
[21]	"The genetic basis of autosomal dominant familial Mediterranean fever." Booth D.R., Gillmore J.D., Lachmann H.J., Booth S.E., Bybee A., Soytuerk M., Akar S., Pepys M.B., Tunca M., Hawkins P.N. QJM 93:217-221(2000) [PubMed: 10787449] [Abstract] Cited for: VARIANTS ADFMF GLN-148; ILE-680; ILE-694; MET-694 DEL AND VAL-694.
[22]	"Is the Ala138Gly alteration of MEFV gene important for amyloidosis?" Akar E., Yalcinkaya F., Akar N. Hum. Mutat. 17:71-71(2001) [PubMed: 11139244] [Abstract] Cited for: VARIANT FMF ALA-138.
[23]	"I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?" Aldea A., Casademont J., Arostegui J.I., Rius J., Maso M., Vives J., Yague J. Hum. Mutat. 20:148-150(2002) [PubMed: 12124996] [Abstract] Cited for: VARIANT FMF THR-591.
[24]	"A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?" Aldea A., Campistol J.M., Arostegui J.I., Rius J., Maso M., Vives J., Yaguee J. Am. J. Med. Genet. A 124:67-73(2004) [PubMed: 14679589] [Abstract] Cited for: VARIANT ADFMF TYR-478.
[25]	"The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus." Aldea A., Calafell F., Arostegui J.I., Lao O., Rius J., Plaza S., Maso M., Vives J., Buades J., Yaguee J. Hum. Mutat. 23:399-399(2004) [PubMed: 15024744] [Abstract] Cited for: VARIANTS ARFMF ALA-163 AND LYS-319, VARIANT SER-744.
[26]	"Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations." Medlej-Hashim M., Serre J.-L., Corbani S., Saab O., Jalkh N., Delague V., Chouery E., Salem N., Loiselet J., Lefranc G., Megarbane A. Eur. J. Med. Genet. 48:412-420(2005) [PubMed: 16378925] [Abstract] Cited for: VARIANTS ARFMF ARG-108; GLN-148; VAL-148; ASP-167; ILE-177; ILE-267; LYS-474; LEU-479; HIS-653; ILE-680; ILE-694; VAL-694; ARG-695; MET-720; ALA-726; SER-744 AND HIS-761.
[27]	"Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF)." Goulielmos G.N., Fragouli E., Aksentijevich I., Sidiropoulos P., Boumpas D.T., Eliopoulos E. Biochem. Biophys. Res. Commun. 345:1326-1332(2006) [PubMed: 16730661] [Abstract] Cited for: VARIANTS ARFMF SER-632; MET-640; PHE-641; LEU-646; PRO-649; HIS-653; ALA-656; ASN-661; ASN-675; GLU-678; LEU-680; ILE-681; CYS-688; ILE-694; LEU-694; VAL-694; MET-695; ARG-695; ILE-704; SER-705; MET-720; ALA-726; LEU-743; SER-744; SER-758; HIS-761 AND THR-780, VARIANT CYS-702.
+	Additional computationally mapped references.

Web resources

GeneDis

Familial Mediterranean fever (FMF) Disease website

INFEVERS

Repertory of FMF and hereditary autoinflammatory disorders mutations

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF018080 mRNA. Translation: AAB70557.1. BC101511 mRNA. Translation: AAI01512.1. BC101537 mRNA. Translation: AAI01538.1. Y14441 mRNA. Translation: CAA74793.1. AJ003147 Genomic DNA. Translation: CAA05906.1. AF111163 Genomic DNA. Translation: AAD26152.1. AF301150 Genomic DNA. Translation: AAK97223.1. AF301151 Genomic DNA. Translation: AAK97224.1.
IPI	IPI00007367. IPI00375378.
RefSeq	NP_000234.1.
UniGene	Hs.632221
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	O15553.
PTM databases
PhosphoSite	O15553.
Proteomic databases
PRIDE	O15553.
Genome annotation databases
Ensembl	ENST00000219596; ENSP00000219596; ENSG00000103313; Homo sapiens. [Genome view] ENST00000339854; ENSP00000339639; ENSG00000103313; Homo sapiens. [Genome view]
GeneID	4210.
KEGG	hsa:4210.
UCSC	uc002cun.1. human.
Organism-specific databases
CTD	4210.
GeneCards	GC16M003232.
H-InvDB	HIX0038535.
HGNC	HGNC:6998. MEFV.
MIM	134610. phenotype. 249100. phenotype. 608107. gene.
Orphanet	342. Familial mediterranean fever.
PharmGKB	PA30736.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	O15553.
OMA	VPYDFEK.
Gene expression databases
ArrayExpress	O15553.
Bgee	O15553.
CleanEx	HS_MEFV.
Genevestigator	O15553.
GermOnline	ENSG00000103313. Homo sapiens.
Family and domain databases
InterPro	IPR001870. B302. IPR003879. Butyrophylin. IPR011029. DEATH-like. IPR006574. PRY. IPR004020. Pyrin. IPR018355. SPla/RYanodine_receptor_sg. IPR003877. SPRY_rcpt. IPR000315. Znf_B-box. [Graphical view]
Gene3D	G3DSA:1.10.533.10. DEATH_like. 1 hit.
Pfam	PF02758. PAAD_DAPIN. 1 hit. PF00622. SPRY. 1 hit. PF00643. zf-B_box. 1 hit. [Graphical view]
PRINTS	PR01407. BUTYPHLNCDUF.
SMART	SM00336. BBOX. 1 hit. SM00589. PRY. 1 hit. SM00449. SPRY. 1 hit. [Graphical view]
PROSITE	PS50188. B302_SPRY. 1 hit. PS50824. DAPIN. 1 hit. PS50119. ZF_BBOX. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB01394. Colchicine.
NextBio	16586.
SOURCE	Search...

Entry information

Entry name

MEFV_HUMAN

Accession

Primary (citable) accession number: O15553
Secondary accession number(s): Q3MJ84, Q96PN4, Q96PN5

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	January 1, 1998
Last modified:	November 3, 2009
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.