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HUMAN:MEFV
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | MEFV (synonyms: MEF) | |
| Protein Name(s) | Pyrin
Marenostrin | |
| External Links | ||
| UniProt | O15553 | |
| EMBL | AF018080 CH471112 CH471112 BC101511 BC101537 Y14441 AJ003147 AF111163 AF301150 AF301151 | |
| CCDS | CCDS10498.1 CCDS55981.1 | |
| RefSeq | NP_000234.1 NP_001185465.1 | |
| UniGene | Hs.632221 | |
| PDB | 2MPC 2WL1 | |
| PDBsum | 2MPC 2WL1 | |
| ProteinModelPortal | O15553 | |
| SMR | O15553 | |
| BioGrid | 110374 | |
| IntAct | O15553 | |
| MINT | MINT-206922 | |
| STRING | 9606.ENSP00000219596 | |
| PhosphoSite | O15553 | |
| PaxDb | O15553 | |
| PRIDE | O15553 | |
| Ensembl | ENST00000219596 ENST00000536379 ENST00000541159 | |
| GeneID | 4210 | |
| KEGG | hsa:4210 | |
| UCSC | uc002cun.1 uc021tbx.1 | |
| CTD | 4210 | |
| GeneCards | GC16M003295 | |
| GeneReviews | MEFV | |
| HGNC | HGNC:6998 | |
| MIM | 134610 249100 608107 | |
| neXtProt | NX_O15553 | |
| Orphanet | 117 342 329967 | |
| PharmGKB | PA30736 | |
| eggNOG | NOG328286 | |
| GeneTree | ENSGT00760000118993 | |
| HOGENOM | HOG000113552 | |
| HOVERGEN | HBG006343 | |
| InParanoid | O15553 | |
| KO | K12803 | |
| OMA | NGYWVVI | |
| OrthoDB | EOG7CCBQH | |
| PhylomeDB | O15553 | |
| TreeFam | TF351091 | |
| Reactome | REACT_75808 | |
| EvolutionaryTrace | O15553 | |
| GeneWiki | MEFV | |
| GenomeRNAi | 4210 | |
| NextBio | 16586 | |
| PRO | PR:O15553 | |
| Proteomes | UP000005640 | |
| Bgee | O15553 | |
| CleanEx | HS_MEFV | |
| ExpressionAtlas | O15553 | |
| Genevestigator | O15553 | |
| GO | GO:0005829 GO:0030027 GO:0005874 GO:0005875 GO:0005634 GO:0001726 GO:0003779 GO:0008270 GO:0006954 GO:0045087 GO:0050728 GO:0032691 GO:0032695 GO:0071641 GO:0035872 GO:2001056 | |
| Gene3D | 1.10.533.10 4.10.45.10 | |
| InterPro | IPR001870 IPR003879 IPR013320 IPR004020 IPR011029 IPR006574 IPR028841 IPR003877 IPR000315 | |
| PANTHER | PTHR24103:SF264 | |
| Pfam | PF13765 PF02758 PF00622 PF00643 | |
| PRINTS | PR01407 | |
| SMART | SM00336 SM00589 SM00449 | |
| SUPFAM | SSF47986 SSF49899 | |
| PROSITE | PS50188 PS50824 PS50119 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:0010508 |
positive regulation of autophagy |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:1900016 |
negative regulation of cytokine production involved in inflammatory response |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0034341 |
response to interferon-gamma |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005737 |
cytoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:1900226 |
negative regulation of NLRP3 inflammasome complex assembly |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0071641 |
negative regulation of macrophage inflammatory protein 1 alpha production |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0050728 |
negative regulation of inflammatory response |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0032695 |
negative regulation of interleukin-12 production |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0032691 |
negative regulation of interleukin-1 beta production |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:2001056 |
positive regulation of cysteine-type endopeptidase activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0008270 |
zinc ion binding |
ECO:0000303 |
author statement without traceable support used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006954 |
inflammatory response |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005875 |
microtubule associated complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0003779 |
actin binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0034341 |
response to interferon-gamma |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000646672 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0010508 |
positive regulation of autophagy |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000646672 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0006954 |
inflammatory response |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000646672 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005875 |
microtubule associated complex |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000646672 |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005737 |
cytoplasm |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000646672 |
C |
Seeded From UniProt |
complete | ||
|
enables |
GO:0003779 |
actin binding |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN000646672 |
F |
Seeded From UniProt |
complete | ||
|
enables |
GO:0042802 |
identical protein binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0042802 |
identical protein binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0042802 |
identical protein binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0008270 |
zinc ion binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005829 |
cytosol |
Reactome:R-HSA-879221 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
|
enables |
GO:0046872 |
metal ion binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0002376 |
immune system process |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0045087 |
innate immune response |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0042995 |
cell projection |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0031410 |
cytoplasmic vesicle |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0003779 |
actin binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005874 |
microtubule |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006954 |
inflammatory response |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005856 |
cytoskeleton |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005776 |
autophagosome |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0030027 |
lamellipodium |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0001726 |
ruffle |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 1.4 Kimura, T et al. (2015) TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity. J. Cell Biol. 210 973-89 PubMed GONUTS page
- ↑ 2.0 2.1 2.2 Feng, J et al. (2009) Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels. PLoS ONE 4 e8480 PubMed GONUTS page
- ↑ Lachmann, HJ et al. (2006) Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 45 746-50 PubMed GONUTS page
- ↑ Fernandes-Alnemri, T et al. (2009) AIM2 activates the inflammasome and cell death in response to cytoplasmic DNA. Nature 458 509-13 PubMed GONUTS page
- ↑ 5.0 5.1 Papin, S et al. (2000) Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Hum. Mol. Genet. 9 3001-9 PubMed GONUTS page
- ↑ 6.0 6.1 6.2 Mansfield, E et al. (2001) The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 98 851-9 PubMed GONUTS page
- ↑ 7.0 7.1 7.2 7.3 7.4 7.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
- ↑ Vajjhala, PR et al. (2014) Identification of multifaceted binding modes for pyrin and ASC pyrin domains gives insights into pyrin inflammasome assembly. J. Biol. Chem. 289 23504-19 PubMed GONUTS page
- ↑ Zurek, B et al. (2012) TRIM27 negatively regulates NOD2 by ubiquitination and proteasomal degradation. PLoS ONE 7 e41255 PubMed GONUTS page
- ↑ Yu, JW et al. (2007) Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants. Mol. Cell 28 214-27 PubMed GONUTS page
c
i
m
n
- GO:0050728 ! negative regulation of inflammatory response
- GO:1900226 ! negative regulation of NLRP3 inflammasome complex assembly
- GO:0071641 ! negative regulation of macrophage inflammatory protein 1 alpha production
- GO:1900016 ! negative regulation of cytokine production involved in inflammatory response
- GO:0032691 ! negative regulation of interleukin-1 beta production
- GO:0032695 ! negative regulation of interleukin-12 production
- GO:0005634 ! nucleus
