MTHR_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: MTHR_HUMAN
• UniProt AC: P42898
• Protein Name: Methylenetetrahydrofolate reductase {ECO:0000305}
• Gene Name: MTHFR
• Organism: Homo sapiens (Human).
• Sequence Length: 656
• Protein Description: Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine..
• Protein Sequence: MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWFSLEFFPPRTAEGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYCGLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFVKACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIELAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREEDVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKMWGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGILTINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHLVNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYEEESPSRTIIQYIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP

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
18	Phosphorylation	LNPCLEGSASSGSES CCCCCCCCCCCCCCC	18.66	16024724
20	Phosphorylation	PCLEGSASSGSESSK CCCCCCCCCCCCCCC	36.61	16024724
21	Phosphorylation	CLEGSASSGSESSKD CCCCCCCCCCCCCCC	46.16	16024724
26	Phosphorylation	ASSGSESSKDSSRCS CCCCCCCCCCCCCCC	36.11	16024724
29	Phosphorylation	GSESSKDSSRCSTPG CCCCCCCCCCCCCCC	24.34	27251275
30	Phosphorylation	SESSKDSSRCSTPGL CCCCCCCCCCCCCCC	47.65	27251275
33	Phosphorylation	SKDSSRCSTPGLDPE CCCCCCCCCCCCCHH	36.20	28060719
34	Phosphorylation	KDSSRCSTPGLDPER CCCCCCCCCCCCHHH	25.63	21815630
90	Phosphorylation	MAAGGPLYIDVTWHP HHCCCCEEEEEEEEC	9.75	-
151	Ubiquitination	KAKQLGLKNIMALRG HHHHHCCCHHHHHCC	42.50	-
212	Ubiquitination	GSFEADLKHLKEKVS CCHHHHHHHHHHHHH	47.65	-
273	Ubiquitination	RQLVKLSKLEVPQEI HHHHHHHCCCCCHHH	60.13	-
281	Ubiquitination	LEVPQEIKDVIEPIK CCCCHHHHHHHHHCC	45.23	-
288	Ubiquitination	KDVIEPIKDNDAAIR HHHHHHCCCCCHHHH	62.28	-
329	Phosphorylation	TLNREMATTEVLKRL ECCHHHHHHHHHHHH	23.37	-
330	Phosphorylation	LNREMATTEVLKRLG CCHHHHHHHHHHHHC	17.98	-
372	Ubiquitination	IFWASRPKSYIYRTQ CEECCCCCCEEEECC	55.57	-
392	Phosphorylation	PNGRWGNSSSPAFGE CCCCCCCCCCCCCHH	28.40	29978859
393	Phosphorylation	NGRWGNSSSPAFGEL CCCCCCCCCCCCHHH	44.32	29978859
394	Phosphorylation	GRWGNSSSPAFGELK CCCCCCCCCCCHHHC	21.77	29978859
414	Ubiquitination	YLKSKSPKEELLKMW EECCCCHHHHHHHHH	71.55	-
465	Phosphorylation	EPLAAETSLLKEELL CCCHHHHHHHHHHHH	24.18	24719451
468	Ubiquitination	AAETSLLKEELLRVN HHHHHHHHHHHHCCC	55.20	-
549	Phosphorylation	NVKGENITNAPELQP EECCCCCCCCCCCCC	36.59	-

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
34	T	Phosphorylation	Kinase	CDK1	P06493	PSP
549	T	Phosphorylation	Kinase	PLK1	P53350	PSP

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of MTHR_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 MTHR_HUMAN !!

Protein-Protein Interaction

Oops, there are no PPI records of MTHR_HUMAN !!

Drug and Disease Associations

• Kegg Disease
• There are no disease associations of PTM sites.
• OMIM Disease
• 236250: Methylenetetrahydrofolate reductase deficiency (MTHFRD)
• 603174], developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. {ECO:
• Ischemic stroke (ISCHSTR) [: DISEASE
• 601634: Neural tube defects, folate-sensitive (NTDFS)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• DB00542: Benazepril
• DB00115: Cyanocobalamin
• DB00544: Fluorouracil
• DB00158: Folic Acid
• DB00134: L-Methionine
• DB00170: Menadione
• DB00563: Methotrexate
• DB00140: Riboflavin
• DB00116: Tetrahydrofolic acid