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MMAA (human)

Overview MMAA Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Defects in MMAA are the cause of methylmalonic aciduria type cblA (MMAA); also known as methylmalonic aciduria type A or vitamin B12-responsive methylmalonicaciduria of cblA complementation type. MMAA is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive. Belongs to the ArgK family. Note: This description may include information from UniProtKB. Protein type: Chaperone; EC 3.6.-.- Cellular Component: mitochondrion Molecular Function: GTP binding; nucleoside-triphosphatase activity Biological Process: cobalamin biosynthetic process Reference #:  Q8IVH4 (UniProtKB) Alt. Names/Synonyms: cblA; methylmalonic aciduria (cobalamin deficiency) cblA type; methylmalonic aciduria type A; Methylmalonic aciduria type A protein, mitochondrial; MGC120010; MGC120011; MGC120012; MGC120013; MMAA Gene Symbols: MMAA Molecular weight: 46,538 Da Basal Isoelectric point: 9.37  Predict pI for various phosphorylation states

Select Structure to View Below MMAA 2WWW - A/D/C/B=72-418 (human)

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  RCSB PDB  |  Phospho3D  |  DISEASE 251100 607481  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	2		K140-a	QEQSNKGkPLAFRVG
0	1		S149	LAFRVGLSGPPGAGK
0	1		S157	GPPGAGKStFIEYFG
0	2		T158-p	PPGAGKStFIEYFGk
0	2		K165-a	tFIEYFGkMLTERGH
0	1		S189-p	SSCTSGGsLLGDKTR
0	2		Y207	LSRDMNAYIRPSPTR
0	1		S352-p	FQDLMLAsGELTAKR

	mouse
K137-a	QELRNQGkPLTFRVG
S146-p	LTFRVGLsGPPGAGK
S154-p	GPPGAGKstFIECFG
T155-p	PPGAGKstFIECFGk
K162-a	tFIECFGkMLTEQGH
S186	SSCTSGGSLLGDKTR
Y204	LSRDMNAYIRPSPTS
S349	FQHQMLASGELAAKR

	rat
K137	RELQNHGKPFTFRVG
S146	FTFRVGLSGPPGAGK
S154	GPPGAGKSTFIECFG
T155	PPGAGKSTFIECFGK
K162	TFIECFGKMLTERGH
S186	SSCTSGGSLLGDKTR
Y204-p	LSRDMNAyIRPSPTS
S349	FQHRMLASGELAAKR

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