MMAC_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: MMAC_HUMAN
• UniProt AC: Q9Y4U1
• Protein Name: Methylmalonic aciduria and homocystinuria type C protein
• Gene Name: MMACHC
• Organism: Homo sapiens (Human).
• Sequence Length: 282
• Subcellular Localization: Cytoplasm .
• Protein Description: Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate. [PubMed: 19700356]
• Protein Sequence: MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP

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
224	Phosphorylation	EEQKAYFSTPPAQRL HHHHHHHCCCHHHHH	27.59	26270265
225	Phosphorylation	EQKAYFSTPPAQRLA HHHHHHCCCHHHHHH	24.32	25159151
240	Phosphorylation	LLGLAQPSEKPSSPS HHHCCCCCCCCCCCC	46.29	23401153
244	Phosphorylation	AQPSEKPSSPSPDLP CCCCCCCCCCCCCCC	66.98	25159151
245	Phosphorylation	QPSEKPSSPSPDLPF CCCCCCCCCCCCCCC	37.61	25159151
247	Phosphorylation	SEKPSSPSPDLPFTT CCCCCCCCCCCCCCC	32.75	25159151
253	Phosphorylation	PSPDLPFTTPAPKKP CCCCCCCCCCCCCCC	29.90	30108239
254	Phosphorylation	SPDLPFTTPAPKKPG CCCCCCCCCCCCCCC	20.17	25159151
268	Phosphorylation	GNPSRARSWLSPRVS CCCHHHHHCCCCCCC	31.24	25159151
271	Phosphorylation	SRARSWLSPRVSPPA HHHHHCCCCCCCCCC	12.38	25159151
275	Phosphorylation	SWLSPRVSPPASPGP HCCCCCCCCCCCCCC	26.84	25159151
279	Phosphorylation	PRVSPPASPGP---- CCCCCCCCCCC----	35.84	30266825

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

Oops, there are no upstream regulatory protein records of MMAC_HUMAN !!

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of MMAC_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 MMAC_HUMAN !!

Protein-Protein Interaction

Interacting Protein	Gene Name	Interaction Type	PPI Reference
MMAD_HUMAN	MMADHC	physical	21071249
UB2L3_HUMAN	UBE2L3	physical	26344197

Drug and Disease Associations

• Kegg Disease
• There are no disease associations of PTM sites.
• OMIM Disease
• 277400: Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• DB00115: Cyanocobalamin
• DB00200: Hydroxocobalamin

Related Literatures of Post-Translational Modification

Phosphorylation

"Quantitative phosphoproteomic analysis of T cell receptor signalingreveals system-wide modulation of protein-protein interactions.";
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,Rodionov V., Han D.K.;
Sci. Signal. 2:RA46-RA46(2009).
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-275, AND MASSSPECTROMETRY.
PubMed: 19690332

"Lys-N and trypsin cover complementary parts of the phosphoproteome ina refined SCX-based approach.";
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,Mohammed S.;
Anal. Chem. 81:4493-4501(2009).
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-245; SER-247 ANDSER-275, AND MASS SPECTROMETRY.
PubMed: 19413330

"A quantitative atlas of mitotic phosphorylation.";
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,Elledge S.J., Gygi S.P.;
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-245; SER-275 ANDSER-279, AND MASS SPECTROMETRY.
PubMed: 18669648