MEFV_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: MEFV_HUMAN
• UniProt AC: O15553
• Protein Name: Pyrin
• Gene Name: MEFV
• Organism: Homo sapiens (Human).
• Sequence Length: 781
• Subcellular Localization: Isoform 1: Cytoplasm, cytoskeleton. Cell projection, ruffle. Cell projection, lamellipodium. Nucleus. Cytoplasm . Cytoplasmic vesicle, autophagosome . Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral
• Protein Description: Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy. Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation. [PubMed: 16785446]
• Protein Sequence: MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQRLLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSKRREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKECRPFEVYLPSGKMRPRSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARPTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLLHQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGPD

Overview of Protein Modification Sites with Functional and Structural Information

Experimental Post-Translational Modification Sites

* ASA = Accessible Surface Area

Locations	Modification	Substrate Peptides & Secondary Structure	ASA (%)	Reference
6	Phosphorylation	--MAKTPSDHLLSTL --CCCCHHHHHHHHH	42.78	-
11	Phosphorylation	TPSDHLLSTLEELVP CHHHHHHHHHHHHCC	36.99	-
12	Phosphorylation	PSDHLLSTLEELVPY HHHHHHHHHHHHCCC	37.85	-
55	Phosphorylation	ARPVKMATLLVTYYG HCCCEEEEEEEECCC	19.68	25332170
141	Phosphorylation	PYGGGAASLRCSQPE CCCCCCCCCCCCCCC	18.80	27251275
177	Phosphorylation	DAQGKPRTRSPALPG CCCCCCCCCCCCCCC	43.98	23312004
179	Phosphorylation	QGKPRTRSPALPGGR CCCCCCCCCCCCCCC	17.57	23312004
187	Phosphorylation	PALPGGRSPGPCRAL CCCCCCCCCCCCCCC	37.17	24670416
208	Phosphorylation	VRLRRNASSAGRLQG EEEECCCCHHHHHCC	25.03	15934090
209	Phosphorylation	RLRRNASSAGRLQGL EEECCCCHHHHHCCC	32.12	15934090
235	Phosphorylation	PFEVYLPSGKMRPRS CEEEECCCCCCCCCE	48.74	24719451
242	Phosphorylation	SGKMRPRSLEVTIST CCCCCCCEEEEEEEC	31.40	26657352
267	Phosphorylation	LLTLEEKTAANLDSA EEEECHHHCCCCCCC	33.99	-
273	Phosphorylation	KTAANLDSATEPRAR HHCCCCCCCCCCCCC	40.01	-
345	Phosphorylation	VSGHPQASGSRSPGC HCCCCCCCCCCCCCC	31.86	28450419
347	Phosphorylation	GHPQASGSRSPGCPR CCCCCCCCCCCCCCC	27.39	28450419
349	Phosphorylation	PQASGSRSPGCPRCQ CCCCCCCCCCCCCCC	27.60	28450419
363	Phosphorylation	QDSHERKSPGSLSPQ CCCCCCCCCCCCCCC	40.49	28450419
366	Phosphorylation	HERKSPGSLSPQPLP CCCCCCCCCCCCCCH	29.11	23532336
368	Phosphorylation	RKSPGSLSPQPLPQC CCCCCCCCCCCCHHH	24.16	28450419
380	Acetylation	PQCKRHLKQVQLLFC HHHHHHHCCCEEEEE	42.15	19817223
431	Acetylation	QKQLEHLKKLRKSGE HHHHHHHHHHHHCCH	52.23	7491807
432	Acetylation	KQLEHLKKLRKSGEE HHHHHHHHHHHCCHH	60.94	7491815
442	O-linked_Glycosylation	KSGEEQRSYGEEKAV HCCHHHHHHCHHHHH	36.86	29351928
450	Phosphorylation	YGEEKAVSFLKQTEA HCHHHHHHHHHHHHH	29.71	24719451
650	Phosphorylation	LGSPSFLSGRRYWEV ECCCHHHCCCCEEEE	28.39	24719451
672	Phosphorylation	WILGACKTSISRKGN EEEHHCCCCCCCCCC	31.04	-
673	Phosphorylation	ILGACKTSISRKGNM EEHHCCCCCCCCCCE	12.22	-
732	Phosphorylation	RVGSISFYNVTARSH EECEEEEEEEEECCE	11.26	-
741	Phosphorylation	VTARSHIYTFASCSF EEECCEEEEEEECCC	7.15	-

Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)

Modified Location	Modified Residue	Modification	Type of Upstream Proteins	Gene Name of Upstream Proteins	UniProt AC of Upstream Proteins	Sources
208	S	Phosphorylation	Kinase	PKN1	Q16512	PSP
208	S	Phosphorylation	Kinase	PKN2	Q16513	PSP
242	S	Phosphorylation	Kinase	PKN1	Q16512	PSP
242	S	Phosphorylation	Kinase	PKN2	Q16513	PSP
-	K	Ubiquitination	E3 ubiquitin ligase	SKP2	Q13309	PMID:24658274

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of MEFV_HUMAN !!

Disease-associated PTM Sites based on SAP

* Distance = the distance between SAP position and PTM sites.

Oops, there are no SNP-PTM records of MEFV_HUMAN !!

Protein-Protein Interaction

Interacting Protein	Gene Name	Interaction Type	PPI Reference
ASC_HUMAN	PYCARD	physical	11498534
SIVA_HUMAN	SIVA1	physical	18330885
ULK1_HUMAN	ULK1	physical	26347139
BECN1_HUMAN	BECN1	physical	26347139
A16L1_HUMAN	ATG16L1	physical	26347139
GBRAP_HUMAN	GABARAP	physical	26347139
GBRL1_HUMAN	GABARAPL1	physical	26347139
MLP3A_HUMAN	MAP1LC3A	physical	26347139
MLP3C_HUMAN	MAP1LC3C	physical	26347139
GBRL2_HUMAN	GABARAPL2	physical	26347139
NLRP3_HUMAN	NLRP3	physical	26347139

Drug and Disease Associations

• Kegg Disease
• There are no disease associations of PTM sites.
• OMIM Disease
• 249100: Familial Mediterranean fever, autosomal recessive (ARFMF)
• 134610: Familial Mediterranean fever, autosomal dominant (ADFMF)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.