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Protein

Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial

Gene

MMAB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Adenosyltransferase involved in intracellular vitamin B12 metabolism. Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer taht is stimulated by ATP-binding to MMAB and gated by MMAA.1 Publication

Catalytic activityi

ATP + cob(I)yrinic acid a,c-diamide = triphosphate + adenosylcob(III)yrinic acid a,c-diamide.
ATP + cobinamide = triphosphate + adenosylcobinamide.

Pathwayi: adenosylcobalamin biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes adenosylcobalamin from cob(II)yrinate a,c-diamide.
Proteins known to be involved in the 7 steps of the subpathway in this organism are:
  1. no protein annotated in this organism
  2. Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial (MMAB)
  3. no protein annotated in this organism
  4. no protein annotated in this organism
  5. no protein annotated in this organism
  6. no protein annotated in this organism
  7. no protein annotated in this organism
This subpathway is part of the pathway adenosylcobalamin biosynthesis, which is itself part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes adenosylcobalamin from cob(II)yrinate a,c-diamide, the pathway adenosylcobalamin biosynthesis and in Cofactor biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei78ATP1 Publication1
Binding sitei214ATP1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi60 – 63ATP1 Publication4
Nucleotide bindingi68 – 69ATP1 Publication2
Nucleotide bindingi190 – 194ATP1 Publication5

GO - Molecular functioni

GO - Biological processi

  • cobalamin biosynthetic process Source: UniProtKB-UniPathway
  • cobalamin metabolic process Source: UniProtKB

Keywordsi

Molecular functionTransferase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS13779-MONOMER
BRENDAi2.5.1.17 2681
ReactomeiR-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-3359471 Defective MMAB causes methylmalonic aciduria type cblB
UniPathwayi
UPA00148;UER00233

Names & Taxonomyi

Protein namesi
Recommended name:
Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial (EC:2.5.1.17)
Alternative name(s):
Cob(I)alamin adenosyltransferase
Methylmalonic aciduria type B protein
Gene namesi
Name:MMAB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139428.11
HGNCiHGNC:19331 MMAB
MIMi607568 gene
neXtProtiNX_Q96EY8

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

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Methylmalonic aciduria type cblB (MMAB)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.
See also OMIM:251110
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02347196I → T in MMAB. 2 PublicationsCorresponds to variant dbSNP:rs864309509EnsemblClinVar.1
Natural variantiVAR_017204135A → T in MMAB. 1 PublicationCorresponds to variant dbSNP:rs35648932EnsemblClinVar.1
Natural variantiVAR_017205186R → W in MMAB. 2 PublicationsCorresponds to variant dbSNP:rs28941784EnsemblClinVar.1
Natural variantiVAR_017206191R → W in MMAB. 3 PublicationsCorresponds to variant dbSNP:rs376128990EnsemblClinVar.1
Natural variantiVAR_017207193E → K in MMAB. 1 PublicationCorresponds to variant dbSNP:rs749758687Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi326625
GeneReviewsiMMAB
MalaCardsiMMAB
MIMi251110 phenotype
OpenTargetsiENSG00000139428
Orphaneti79311 Vitamin B12-responsive methylmalonic acidemia type cblB
PharmGKBiPA134864025

Chemistry databases

DrugBankiDB00115 Cyanocobalamin
DB00200 Hydroxocobalamin

Polymorphism and mutation databases

BioMutaiMMAB
DMDMi38258221

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 32MitochondrionSequence analysisAdd BLAST32
ChainiPRO_000000556833 – 250Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrialAdd BLAST218

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei134PhosphoserineCombined sources1
Modified residuei211N6-succinyllysineBy similarity1
Modified residuei230N6-acetyllysine; alternateBy similarity1
Modified residuei230N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96EY8
MaxQBiQ96EY8
PaxDbiQ96EY8
PeptideAtlasiQ96EY8
PRIDEiQ96EY8
ProteomicsDBi76474

PTM databases

iPTMnetiQ96EY8
PhosphoSitePlusiQ96EY8

Expressioni

Tissue specificityi

Expressed in liver and skeletal muscle.

Gene expression databases

BgeeiENSG00000139428 Expressed in 183 organ(s), highest expression level in right lobe of liver
CleanExiHS_MMAB
ExpressionAtlasiQ96EY8 baseline and differential
GenevisibleiQ96EY8 HS

Organism-specific databases

HPAiHPA039017

Interactioni

Subunit structurei

Homotrimer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
SPERTQ8NA61-23EBI-7825413,EBI-11524851

Protein-protein interaction databases

BioGridi130605, 15 interactors
IntActiQ96EY8, 11 interactors
MINTiQ96EY8
STRINGi9606.ENSP00000445920

Structurei

Secondary structure

1250
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ96EY8
SMRiQ96EY8
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96EY8

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IEUE Eukaryota
COG2096 LUCA
GeneTreeiENSGT00390000008432
HOGENOMiHOG000291639
HOVERGENiHBG045589
InParanoidiQ96EY8
KOiK00798
OMAiPRQYLNR
OrthoDBiEOG091G0JU1
PhylomeDBiQ96EY8
TreeFamiTF312942

Family and domain databases

Gene3Di1.20.1200.10, 1 hit
InterProiView protein in InterPro
IPR016030 CblAdoTrfase-like
IPR036451 CblAdoTrfase-like_sf
IPR029499 PduO-typ
PANTHERiPTHR12213 PTHR12213, 1 hit
PfamiView protein in Pfam
PF01923 Cob_adeno_trans, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD007457 AdoCbl_syn_CblAdoTrfase_PduO_N, 1 hit
SUPFAMiSSF89028 SSF89028, 1 hit
TIGRFAMsiTIGR00636 PduO_Nterm, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.iShow all

Q96EY8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAVCGLGSRL GLGSRLGLRG CFGAARLLYP RFQSRGPQGV EDGDRPQPSS
60 70 80 90 100
KTPRIPKIYT KTGDKGFSST FTGERRPKDD QVFEAVGTTD ELSSAIGFAL
110 120 130 140 150
ELVTEKGHTF AEELQKIQCT LQDVGSALAT PCSSAREAHL KYTTFKAGPI
160 170 180 190 200
LELEQWIDKY TSQLPPLTAF ILPSGGKISS ALHFCRAVCR RAERRVVPLV
210 220 230 240 250
QMGETDANVA KFLNRLSDYL FTLARYAAMK EGNQEKIYMK NDPSAESEGL
Length:250
Mass (Da):27,388
Last modified:December 1, 2001 - v1
Checksum:iAEFC4E487C9FA5AB
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R3P5S4R3P5_HUMAN
Cob(I)yrinic acid a,c-diamide adeno...
MMAB
198Annotation score:
F5H4Z7F5H4Z7_HUMAN
Cob(I)yrinic acid a,c-diamide adeno...
MMAB
173Annotation score:
S4R3Z1S4R3Z1_HUMAN
Cob(I)yrinic acid a,c-diamide adeno...
MMAB
148Annotation score:
A0A087X114A0A087X114_HUMAN
Cob(I)yrinic acid a,c-diamide adeno...
MMAB
97Annotation score:
F5H079F5H079_HUMAN
Cob(I)yrinic acid a,c-diamide adeno...
MMAB
97Annotation score:
F5H0C1F5H0C1_HUMAN
Cob(I)yrinic acid a,c-diamide adeno...
MMAB
47Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03880319R → H. Corresponds to variant dbSNP:rs10774775EnsemblClinVar.1
Natural variantiVAR_01720319R → Q3 PublicationsCorresponds to variant dbSNP:rs36013132EnsemblClinVar.1
Natural variantiVAR_02347196I → T in MMAB. 2 PublicationsCorresponds to variant dbSNP:rs864309509EnsemblClinVar.1
Natural variantiVAR_017204135A → T in MMAB. 1 PublicationCorresponds to variant dbSNP:rs35648932EnsemblClinVar.1
Natural variantiVAR_017205186R → W in MMAB. 2 PublicationsCorresponds to variant dbSNP:rs28941784EnsemblClinVar.1
Natural variantiVAR_017206191R → W in MMAB. 3 PublicationsCorresponds to variant dbSNP:rs376128990EnsemblClinVar.1
Natural variantiVAR_017207193E → K in MMAB. 1 PublicationCorresponds to variant dbSNP:rs749758687Ensembl.1
Natural variantiVAR_017208239M → K Common polymorphism. 3 PublicationsCorresponds to variant dbSNP:rs9593EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF550404
, AF550396, AF550397, AF550398, AF550399, AF550400, AF550401, AF550402, AF550403 Genomic DNA Translation: AAN85091.1
FJ515859 Genomic DNA Translation: ACS13749.1
BC005054 mRNA Translation: AAH05054.2
BC011831 mRNA Translation: AAH11831.1
CCDSiCCDS9131.1
RefSeqiNP_443077.1, NM_052845.3
UniGeneiHs.12106

Genome annotation databases

EnsembliENST00000545712; ENSP00000445920; ENSG00000139428
GeneIDi326625
KEGGihsa:326625
UCSCiuc001tou.4 human

Keywords - Coding sequence diversityi

Polymorphism

Entry informationi

Entry nameiMMAB_HUMAN
AccessioniPrimary (citable) accession number: Q96EY8
Secondary accession number(s): C5HU05, Q9BSH0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 159 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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