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Protein

Methylmalonic aciduria and homocystinuria type C protein homolog

Gene

Mmachc

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

Cobalamin, Cobalt, FAD, Flavoprotein, FMN, NADP

Enzyme and pathway databases

ReactomeiR-MMU-196741. Cobalamin (Cbl, vitamin B12) transport and metabolism.
UniPathwayiUPA00148.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 4

Organism-specific databases

MGIiMGI:1914346. Mmachc.

Subcellular locationi

  • Cytoplasm By similarity

GO - Cellular componenti

  • cytoplasm Source: MGI
  • mitochondrion Source: MGI
Complete GO annotation...

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.
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.
OMAiLSTPSMF.
OrthoDBiEOG091G0GLW.
PhylomeDBiQ9CZD0.
TreeFamiTF332476.

Family and domain databases

CDDicd12959. MMACHC-like. 1 hit.
InterProiIPR032037. MMACHC.
[Graphical view]
PANTHERiPTHR31457. PTHR31457. 1 hit.
PfamiPF16690. MMACHC. 1 hit.
[Graphical view]

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.

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.
OMAiLSTPSMF.
OrthoDBiEOG091G0GLW.
PhylomeDBiQ9CZD0.
TreeFamiTF332476.

Enzyme and pathway databases

UniPathwayiUPA00148.
ReactomeiR-MMU-196741. Cobalamin (Cbl, vitamin B12) transport and metabolism.

Miscellaneous databases

ChiTaRSiMmachc. mouse.
PROiQ9CZD0.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000028690.
GenevisibleiQ9CZD0. MM.

Family and domain databases

CDDicd12959. MMACHC-like. 1 hit.
InterProiIPR032037. MMACHC.
[Graphical view]
PANTHERiPTHR31457. PTHR31457. 1 hit.
PfamiPF16690. MMACHC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMMAC_MOUSE
AccessioniPrimary (citable) accession number: Q9CZD0
Secondary accession number(s): Q9D8S7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: November 30, 2016
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.