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UniProtKB/Swiss-Prot O15553 (MEFV_HUMAN)
Last modified
November 3, 2009.
Version 102.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Pyrin Alternative name(s): Marenostrin | ||||
| Gene names |
| ||||
| 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 |
| 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 microtubuleInferred from electronic annotation. Source: UniProtKB-KW microtubule associated complex Ref.8Inferred from direct assay. Source: UniProtKB nucleus Ref.2Inferred from direct assay. Source: UniProtKB |
| Molecular function | actin binding Ref.8 Inferred from direct assay. Source: UniProtKB zinc ion binding Ref.2Non-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
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References
| « Hide '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. 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. 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. 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 | |
|---|---|
| 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 |
| ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 16 Human chromosome 16: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


