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Q96EY8

- MMAB_HUMAN

UniProt

Q96EY8 - MMAB_HUMAN

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Protein

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

Gene

MMAB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei78 – 781ATP1 Publication
Binding sitei214 – 2141ATP1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi60 – 634ATP1 Publication
Nucleotide bindingi68 – 692ATP1 Publication
Nucleotide bindingi190 – 1945ATP1 Publication

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. cob(I)yrinic acid a,c-diamide adenosyltransferase activity Source: Reactome

GO - Biological processi

  1. cobalamin biosynthetic process Source: UniProtKB-UniPathway
  2. cobalamin metabolic process Source: Reactome
  3. small molecule metabolic process Source: Reactome
  4. vitamin metabolic process Source: Reactome
  5. water-soluble vitamin metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.
UniPathwayiUPA00148; 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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:19331. MMAB.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial matrix Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Methylmalonic aciduria type cblB (MMAB) [MIM:251110]: A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961I → T in MMAB. 1 Publication
VAR_023471
Natural varianti135 – 1351A → T in MMAB. 1 Publication
Corresponds to variant rs35648932 [ dbSNP | Ensembl ].
VAR_017204
Natural varianti191 – 1911R → W in MMAB. 2 Publications
VAR_017206
Natural varianti193 – 1931E → K in MMAB. 1 Publication
VAR_017207

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi251110. phenotype.
Orphaneti79311. Vitamin B12-responsive methylmalonic acidemia type cblB.
PharmGKBiPA134864025.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3232MitochondrionSequence AnalysisAdd
BLAST
Chaini33 – 250218Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrialPRO_0000005568Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei211 – 2111N6-succinyllysineBy similarity
Modified residuei230 – 2301N6-acetyllysine; alternateBy similarity
Modified residuei230 – 2301N6-succinyllysine; alternateBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ96EY8.
PaxDbiQ96EY8.
PeptideAtlasiQ96EY8.
PRIDEiQ96EY8.

PTM databases

PhosphoSiteiQ96EY8.

Expressioni

Tissue specificityi

Expressed in liver and skeletal muscle.

Gene expression databases

BgeeiQ96EY8.
CleanExiHS_MMAB.
ExpressionAtlasiQ96EY8. baseline and differential.
GenevestigatoriQ96EY8.

Organism-specific databases

HPAiHPA039017.

Interactioni

Subunit structurei

Homotrimer.1 Publication

Protein-protein interaction databases

BioGridi130605. 5 interactions.
IntActiQ96EY8. 1 interaction.
STRINGi9606.ENSP00000266839.

Structurei

Secondary structure

1
250
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi80 – 10021
Helixi109 – 12820
Helixi148 – 16215
Helixi177 – 19620
Turni197 – 2037
Helixi207 – 23125

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2IDXX-ray2.50A/B/C56-250[»]
ProteinModelPortaliQ96EY8.
SMRiQ96EY8. Positions 58-240.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96EY8.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG2096.
GeneTreeiENSGT00390000008432.
HOGENOMiHOG000291639.
HOVERGENiHBG045589.
InParanoidiQ96EY8.
KOiK00798.
OMAiFVAARHA.
OrthoDBiEOG7X3QS4.
PhylomeDBiQ96EY8.
TreeFamiTF312942.

Family and domain databases

Gene3Di1.20.1200.10. 1 hit.
InterProiIPR016030. AdoCbl_synth_CblAdoTrfase-like.
IPR029499. PduO-typ.
[Graphical view]
PfamiPF01923. Cob_adeno_trans. 1 hit.
[Graphical view]
ProDomiPD007457. AdoCbl_syn_CblAdoTrfase_PduO_N. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SUPFAMiSSF89028. SSF89028. 1 hit.
TIGRFAMsiTIGR00636. PduO_Nterm. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191R → H.
Corresponds to variant rs10774775 [ dbSNP | Ensembl ].
VAR_038803
Natural varianti19 – 191R → Q.3 Publications
Corresponds to variant rs36013132 [ dbSNP | Ensembl ].
VAR_017203
Natural varianti96 – 961I → T in MMAB. 1 Publication
VAR_023471
Natural varianti135 – 1351A → T in MMAB. 1 Publication
Corresponds to variant rs35648932 [ dbSNP | Ensembl ].
VAR_017204
Natural varianti186 – 1861R → W.1 Publication
Corresponds to variant rs28941784 [ dbSNP | Ensembl ].
VAR_017205
Natural varianti191 – 1911R → W in MMAB. 2 Publications
VAR_017206
Natural varianti193 – 1931E → K in MMAB. 1 Publication
VAR_017207
Natural varianti239 – 2391M → K Common polymorphism. 3 Publications
Corresponds to variant rs9593 [ dbSNP | Ensembl ].
VAR_017208

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Polymorphism databases

DMDMi38258221.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS9131.1.
RefSeqi NP_443077.1. NM_052845.3.
UniGenei Hs.12106.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2IDX X-ray 2.50 A/B/C 56-250 [» ]
ProteinModelPortali Q96EY8.
SMRi Q96EY8. Positions 58-240.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 130605. 5 interactions.
IntActi Q96EY8. 1 interaction.
STRINGi 9606.ENSP00000266839.

Chemistry

DrugBanki DB00115. Cyanocobalamin.
DB00200. Hydroxocobalamin.

PTM databases

PhosphoSitei Q96EY8.

Polymorphism databases

DMDMi 38258221.

Proteomic databases

MaxQBi Q96EY8.
PaxDbi Q96EY8.
PeptideAtlasi Q96EY8.
PRIDEi Q96EY8.

Protocols and materials databases

DNASUi 326625.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000545712 ; ENSP00000445920 ; ENSG00000139428 .
GeneIDi 326625.
KEGGi hsa:326625.
UCSCi uc001tou.3. human.

Organism-specific databases

CTDi 326625.
GeneCardsi GC12M109991.
GeneReviewsi MMAB.
HGNCi HGNC:19331. MMAB.
HPAi HPA039017.
MIMi 251110. phenotype.
607568. gene.
neXtProti NX_Q96EY8.
Orphaneti 79311. Vitamin B12-responsive methylmalonic acidemia type cblB.
PharmGKBi PA134864025.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2096.
GeneTreei ENSGT00390000008432.
HOGENOMi HOG000291639.
HOVERGENi HBG045589.
InParanoidi Q96EY8.
KOi K00798.
OMAi FVAARHA.
OrthoDBi EOG7X3QS4.
PhylomeDBi Q96EY8.
TreeFami TF312942.

Enzyme and pathway databases

UniPathwayi UPA00148 ; UER00233 .
Reactomei REACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.

Miscellaneous databases

EvolutionaryTracei Q96EY8.
GeneWikii MMAB.
GenomeRNAii 326625.
NextBioi 96712.
PROi Q96EY8.
SOURCEi Search...

Gene expression databases

Bgeei Q96EY8.
CleanExi HS_MMAB.
ExpressionAtlasi Q96EY8. baseline and differential.
Genevestigatori Q96EY8.

Family and domain databases

Gene3Di 1.20.1200.10. 1 hit.
InterProi IPR016030. AdoCbl_synth_CblAdoTrfase-like.
IPR029499. PduO-typ.
[Graphical view ]
Pfami PF01923. Cob_adeno_trans. 1 hit.
[Graphical view ]
ProDomi PD007457. AdoCbl_syn_CblAdoTrfase_PduO_N. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
SUPFAMi SSF89028. SSF89028. 1 hit.
TIGRFAMsi TIGR00636. PduO_Nterm. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of the gene responsible for the cblB complementation group of vitamin B(12)-dependent methylmalonic aciduria."
    Dobson C.M., Wai T., Leclerc D., Kadir H., Narang M., Lerner-Ellis J.P., Hudson T.J., Rosenblatt D.S., Gravel R.A.
    Hum. Mol. Genet. 11:3361-3369(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS MMAB THR-135; TRP-191 AND LYS-193, VARIANTS GLN-19; TRP-186 AND LYS-239.
  2. "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant."
    Leal N.A., Park S.D., Kima P.E., Bobik T.A.
    J. Biol. Chem. 278:9227-9234(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GLN-19 AND LYS-239, INVOLVEMENT IN DISEASE.
  3. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLN-19 AND LYS-239.
    Tissue: Lung.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "Structure of ATP-bound human ATP:cobalamin adenosyltransferase."
    Schubert H.L., Hill C.P.
    Biochemistry 45:15188-15196(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 55-250 IN COMPLEX WITH ATP, SUBUNIT.
  7. "Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants."
    Martinez M.A., Rincon A., Desviat L.R., Merinero B., Ugarte M., Perez B.
    Mol. Genet. Metab. 84:317-325(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MMAB THR-96 AND TRP-191.

Entry informationi

Entry nameiMMAB_HUMAN
AccessioniPrimary (citable) accession number: Q96EY8
Secondary accession number(s): C5HU05, Q9BSH0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 126 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3