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Protein

Methylmalonic aciduria and homocystinuria type C protein homolog

Gene

Mmachc

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate. Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin. Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen. Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives.By similarity

Cofactori

FADBy similarity, FMNBy similarityNote: Can utilize both FAD and FMN.By similarity

Pathwayi: adenosylcobalamin biosynthesis

This protein is involved in the pathway adenosylcobalamin biosynthesis, which is part of Cofactor biosynthesis.By similarity
View all proteins of this organism that are known to be involved in the pathway adenosylcobalamin biosynthesis and in Cofactor biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei104SubstrateBy similarity1
Binding sitei149Substrate; via amide nitrogenBy similarity1
Binding sitei160Substrate; via amide nitrogen and carbonyl oxygenBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
LigandCobalamin, Cobalt, FAD, Flavoprotein, FMN, NADP

Enzyme and pathway databases

ReactomeiR-MMU-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
UniPathwayi
UPA00148

Names & Taxonomyi

Protein namesi
Recommended name:
Methylmalonic aciduria and homocystinuria type C protein homolog (EC:1.16.1.-By similarity)
Alternative name(s):
CblCBy similarity
Cyanocobalamin reductase (cyanide-eliminating)
Gene namesi
Name:Mmachc
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 4

Organism-specific databases

MGIiMGI:1914346 Mmachc

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Disruption phenotypei

Complete embryonic lethality. All die before 3.5 dpc.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000762591 – 279Methylmalonic aciduria and homocystinuria type C protein homologAdd BLAST279

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei247PhosphoserineBy similarity1
Modified residuei272PhosphoserineBy similarity1
Modified residuei276PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9CZD0
PRIDEiQ9CZD0

PTM databases

iPTMnetiQ9CZD0
PhosphoSitePlusiQ9CZD0

Expressioni

Tissue specificityi

Detected in liver and kidney (at protein level) (PubMed:21697092). Detected in embryos (PubMed:24889031).2 Publications

Gene expression databases

BgeeiENSMUSG00000028690 Expressed in 266 organ(s), highest expression level in gastrocnemius
GenevisibleiQ9CZD0 MM

Interactioni

Subunit structurei

Monomer in the absence of bound substrate. Homodimer; dimerization is triggered by binding to FMN or adenosylcobalamin. Heterodimer with MMADHC.By similarity

GO - Molecular functioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000030453

Structurei

3D structure databases

ProteinModelPortaliQ9CZD0
SMRiQ9CZD0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni115 – 118Substrate bindingBy similarity4
Regioni129 – 131Substrate bindingBy similarity3

Sequence similaritiesi

Belongs to the MMACHC family.Curated

Phylogenomic databases

eggNOGiENOG410IKBC Eukaryota
ENOG410XTCP LUCA
GeneTreeiENSGT00390000003464
HOGENOMiHOG000231413
HOVERGENiHBG080267
InParanoidiQ9CZD0
KOiK14618
OMAiMEPQVAE
OrthoDBiEOG091G0GLW
PhylomeDBiQ9CZD0
TreeFamiTF332476

Family and domain databases

CDDicd12959 MMACHC-like, 1 hit
InterProiView protein in InterPro
IPR032037 MMACHC
PANTHERiPTHR31457 PTHR31457, 1 hit
PfamiView protein in Pfam
PF16690 MMACHC, 1 hit

Sequencei

Sequence statusi: Complete.

Q9CZD0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEPRVAELKQ KIEDTLCPFG FEVYPFQVAW YNELLPPAFH LPFPGPTLAF
60 70 80 90 100
LVLSTPAMFD RALKPFLKSC HFQTLRDPVD QCVSYHLRSV TEKFPEVHME
110 120 130 140 150
VIADYEVHPN RRPKILAQTA AHVAGAAYYY QRQDVDADPW GTQHIAGVCI
160 170 180 190 200
HPRFGGWFAI RGVMLLPGIE VPNLPPRKPP DCVPTRAGRI TLLEGFNFHW
210 220 230 240 250
RDWTYRDAVT PEERYSEEQK IYFSTPPAQR LALLGLAQPS EHPSTTSELP
260 270
LSLLTKPQNS RRARSWLSPS VSPPVSPGP
Length:279
Mass (Da):31,648
Last modified:January 10, 2006 - v2
Checksum:i178FAEB388691B09
GO

Sequence cautioni

The sequence AAH54756 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB25214 differs from that shown. Reason: Frameshift at position 13.Curated
The sequence BAC39135 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti14D → G in BAB28451 (PubMed:16141072).Curated1
Sequence conflicti239P → H in BAB28451 (PubMed:16141072).Curated1
Sequence conflicti256K → T in BAB28451 (PubMed:16141072).Curated1
Sequence conflicti260S → Y in BAB28451 (PubMed:16141072).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK007725 mRNA Translation: BAB25214.1 Frameshift.
AK012761 mRNA Translation: BAB28451.1
AK084194 mRNA Translation: BAC39135.1 Different initiation.
BC054756 mRNA Translation: AAH54756.1 Different initiation.
CCDSiCCDS51278.1
RefSeqiNP_080238.2, NM_025962.3
UniGeneiMm.252785

Genome annotation databases

EnsembliENSMUST00000030453; ENSMUSP00000030453; ENSMUSG00000028690
GeneIDi67096
KEGGimmu:67096
UCSCiuc008uhe.1 mouse

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK007725 mRNA Translation: BAB25214.1 Frameshift.
AK012761 mRNA Translation: BAB28451.1
AK084194 mRNA Translation: BAC39135.1 Different initiation.
BC054756 mRNA Translation: AAH54756.1 Different initiation.
CCDSiCCDS51278.1
RefSeqiNP_080238.2, NM_025962.3
UniGeneiMm.252785

3D structure databases

ProteinModelPortaliQ9CZD0
SMRiQ9CZD0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000030453

PTM databases

iPTMnetiQ9CZD0
PhosphoSitePlusiQ9CZD0

Proteomic databases

PaxDbiQ9CZD0
PRIDEiQ9CZD0

Protocols and materials databases

DNASUi67096
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000030453; ENSMUSP00000030453; ENSMUSG00000028690
GeneIDi67096
KEGGimmu:67096
UCSCiuc008uhe.1 mouse

Organism-specific databases

CTDi25974
MGIiMGI:1914346 Mmachc

Phylogenomic databases

eggNOGiENOG410IKBC Eukaryota
ENOG410XTCP LUCA
GeneTreeiENSGT00390000003464
HOGENOMiHOG000231413
HOVERGENiHBG080267
InParanoidiQ9CZD0
KOiK14618
OMAiMEPQVAE
OrthoDBiEOG091G0GLW
PhylomeDBiQ9CZD0
TreeFamiTF332476

Enzyme and pathway databases

UniPathwayi
UPA00148

ReactomeiR-MMU-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism

Miscellaneous databases

ChiTaRSiMmachc mouse
PROiPR:Q9CZD0
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000028690 Expressed in 266 organ(s), highest expression level in gastrocnemius
GenevisibleiQ9CZD0 MM

Family and domain databases

CDDicd12959 MMACHC-like, 1 hit
InterProiView protein in InterPro
IPR032037 MMACHC
PANTHERiPTHR31457 PTHR31457, 1 hit
PfamiView protein in Pfam
PF16690 MMACHC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMMAC_MOUSE
AccessioniPrimary (citable) accession number: Q9CZD0
Secondary accession number(s): Q9D8S7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: September 12, 2018
This is version 101 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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