Protein Information

Cytoscape View


UniProt AC / UniProt ID Q9Y4U1 / MMAC_HUMAN
Protein Name Cyanocobalamin reductase / alkylcobalamin dealkylase
Gene Name Name: MMACHC
Organism Homo sapiens (Human)

PRO ID PR:Q9Y4U1
DAG View
PRO Name cyanocobalamin reductase / alkylcobalamin dealkylase (human)
Definition A cyanocobalamin reductase / alkylcobalamin dealkylase that is encoded in the genome of human.
Short Label hMMACHC
Category organism-gene

Interactive Sequence View

Select/align proteoforms across species


Q9Y4U1 (MMACHC) as Substrate



Site PTM Type PTM Enzyme Score Source PMID
S240 Phosphorylation PhosphoSitePlus
S244 Phosphorylation HPRD   phospho.ELM   PhosphoSitePlus 18669648, 20068231
S245 Phosphorylation HPRD   phospho.ELM   PhosphoSitePlus   UniProt 19413330, 18669648, 20068231
S247 Phosphorylation HPRD   phospho.ELM   PhosphoSitePlus   UniProt 19413330, 18669648, 20068231
T254 Phosphorylation PhosphoSitePlus
S268 Phosphorylation PhosphoSitePlus
S271 Phosphorylation HPRD   PhosphoSitePlus 20068231
S275 Phosphorylation HPRD   phospho.ELM   PhosphoSitePlus   UniProt 19413330, 23186163, 18669648, ...19690332, 20068231
S279 Phosphorylation HPRD   phospho.ELM   PhosphoSitePlus   UniProt 18669648, 20068231


PTM sites affected in variants

Site Variant Source PMID Disease [Sample source]
S240 * Biomuta DOID:11054 / urinary bladder cancer [ cosmic ]
T254 S254 Biomuta DOID:1781 / thyroid gland cancer [ cosmic ]
T254 I254 Biomuta DOID:1781 / thyroid gland cancer [ cosmic ]