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Protein

Methylmalonic aciduria type A protein, mitochondrial

Gene

MMAA

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

Functioni

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.

Pathwayi: adenosylcobalamin biosynthesis

This protein is involved in the pathway adenosylcobalamin biosynthesis, which is part of Cofactor biosynthesis.
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 sitei292GTP1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi150 – 158GTP9
Nucleotide bindingi328 – 330GTP3

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chaperone, Hydrolase

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-196741. Cobalamin (Cbl, vitamin B12) transport and metabolism.
R-HSA-3359475. Defective MMAA causes methylmalonic aciduria type cblA.
R-HSA-3359478. Defective MUT causes methylmalonic aciduria mut type.
R-HSA-71032. Propionyl-CoA catabolism.
UniPathwayiUPA00148.

Names & Taxonomyi

Protein namesi
Recommended name:
Methylmalonic aciduria type A protein, mitochondrial (EC:3.6.-.-)
Gene namesi
Name:MMAA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:18871. MMAA.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Methylmalonic aciduria type cblA (MMAA)4 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:251100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02083589L → P in MMAA. 1 Publication1
Natural variantiVAR_020836145R → Q in MMAA. 1 PublicationCorresponds to variant rs200577967dbSNPEnsembl.1
Natural variantiVAR_017202207Y → C in MMAA. 2 PublicationsCorresponds to variant rs104893849dbSNPEnsembl.1
Natural variantiVAR_071919209R → S in MMAA. 1 Publication1
Natural variantiVAR_020837218G → E in MMAA. 1 Publication1
Natural variantiVAR_071920250E → K in MMAA. 1 Publication1
Natural variantiVAR_071921274G → D in MMAA. 1 Publication1
Natural variantiVAR_071922274G → S in MMAA. 1 Publication1
Natural variantiVAR_071923276K → E in MMAA. 1 Publication1
Natural variantiVAR_038804359R → G in MMAA. 1 Publication1
Natural variantiVAR_020838359R → Q in MMAA. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi166785.
MalaCardsiMMAA.
MIMi251100. phenotype.
OpenTargetsiENSG00000151611.
Orphaneti79310. Vitamin B12-responsive methylmalonic acidemia type cblA.
PharmGKBiPA134912808.

Chemistry databases

DrugBankiDB00115. Cyanocobalamin.
DB00200. Hydroxocobalamin.

Polymorphism and mutation databases

BioMutaiMMAA.
DMDMi38258173.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 65MitochondrionSequence analysisAdd BLAST65
ChainiPRO_000000228566 – 418Methylmalonic aciduria type A protein, mitochondrialAdd BLAST353

Proteomic databases

EPDiQ8IVH4.
MaxQBiQ8IVH4.
PaxDbiQ8IVH4.
PeptideAtlasiQ8IVH4.
PRIDEiQ8IVH4.

PTM databases

iPTMnetiQ8IVH4.
PhosphoSitePlusiQ8IVH4.
SwissPalmiQ8IVH4.

Expressioni

Tissue specificityi

Widely expressed. Highest expression is observed in liver and skeletal muscle.

Gene expression databases

BgeeiENSG00000151611.
CleanExiHS_MMAA.
ExpressionAtlasiQ8IVH4. baseline and differential.
GenevisibleiQ8IVH4. HS.

Organism-specific databases

HPAiHPA037361.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi127933. 3 interactors.
IntActiQ8IVH4. 1 interactor.
STRINGi9606.ENSP00000281317.

Structurei

Secondary structure

1418
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi80 – 94Combined sources15
Helixi98 – 109Combined sources12
Helixi113 – 135Combined sources23
Turni136 – 139Combined sources4
Beta strandi144 – 149Combined sources6
Helixi156 – 169Combined sources14
Beta strandi174 – 178Combined sources5
Beta strandi206 – 209Combined sources4
Helixi224 – 233Combined sources10
Beta strandi237 – 242Combined sources6
Helixi250 – 254Combined sources5
Beta strandi258 – 264Combined sources7
Beta strandi284 – 288Combined sources5
Helixi293 – 295Combined sources3
Helixi296 – 310Combined sources15
Beta strandi323 – 326Combined sources4
Turni329 – 331Combined sources3
Helixi335 – 352Combined sources18
Helixi354 – 381Combined sources28
Helixi383 – 397Combined sources15
Helixi403 – 415Combined sources13

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2WWWX-ray2.64A/B/C/D72-418[»]
ProteinModelPortaliQ8IVH4.
SMRiQ8IVH4.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8IVH4.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IFVS. Eukaryota.
COG1703. LUCA.
GeneTreeiENSGT00390000009908.
HOVERGENiHBG045588.
InParanoidiQ8IVH4.
KOiK07588.
PhylomeDBiQ8IVH4.
TreeFamiTF313243.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR005129. GTPase_ArgK.
IPR027417. P-loop_NTPase.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00750. lao. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Q8IVH4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPMLLPHPHQ HFLKGLLRAP FRCYHFIFHS STHLGSGIPC AQPFNSLGLH
60 70 80 90 100
CTKWMLLSDG LKRKLCVQTT LKDHTEGLSD KEQRFVDKLY TGLIQGQRAC
110 120 130 140 150
LAEAITLVES THSRKKELAQ VLLQKVLLYH REQEQSNKGK PLAFRVGLSG
160 170 180 190 200
PPGAGKSTFI EYFGKMLTER GHKLSVLAVD PSSCTSGGSL LGDKTRMTEL
210 220 230 240 250
SRDMNAYIRP SPTRGTLGGV TRTTNEAILL CEGAGYDIIL IETVGVGQSE
260 270 280 290 300
FAVADMVDMF VLLLPPAGGD ELQGIKRGII EMADLVAVTK SDGDLIVPAR
310 320 330 340 350
RIQAEYVSAL KLLRKRSQVW KPKVIRISAR SGEGISEMWD KMKDFQDLML
360 370 380 390 400
ASGELTAKRR KQQKVWMWNL IQESVLEHFR THPTVREQIP LLEQKVLIGA
410
LSPGLAADFL LKAFKSRD
Length:418
Mass (Da):46,538
Last modified:March 1, 2003 - v1
Checksum:iAD9EA19DDB8DEEF8
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02083589L → P in MMAA. 1 Publication1
Natural variantiVAR_020836145R → Q in MMAA. 1 PublicationCorresponds to variant rs200577967dbSNPEnsembl.1
Natural variantiVAR_017202207Y → C in MMAA. 2 PublicationsCorresponds to variant rs104893849dbSNPEnsembl.1
Natural variantiVAR_071919209R → S in MMAA. 1 Publication1
Natural variantiVAR_020837218G → E in MMAA. 1 Publication1
Natural variantiVAR_071920250E → K in MMAA. 1 Publication1
Natural variantiVAR_071921274G → D in MMAA. 1 Publication1
Natural variantiVAR_071922274G → S in MMAA. 1 Publication1
Natural variantiVAR_071923276K → E in MMAA. 1 Publication1
Natural variantiVAR_038804359R → G in MMAA. 1 Publication1
Natural variantiVAR_020838359R → Q in MMAA. 2 Publications1
Natural variantiVAR_020423363Q → H.1 PublicationCorresponds to variant rs2270655dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF524846
, AF524841, AF524842, AF524843, AF524844, AF524845 Genomic DNA. Translation: AAN77287.1.
AK126662 mRNA. Translation: BAG54352.1.
CH471056 Genomic DNA. Translation: EAX05036.1.
BC101178 mRNA. Translation: AAI01179.1.
BC101179 mRNA. Translation: AAI01180.1.
CCDSiCCDS3766.1.
RefSeqiNP_758454.1. NM_172250.2.
XP_011529986.1. XM_011531684.2.
XP_011529987.1. XM_011531685.2.
UniGeneiHs.452864.

Genome annotation databases

EnsembliENST00000281317; ENSP00000281317; ENSG00000151611.
GeneIDi166785.
KEGGihsa:166785.
UCSCiuc003ikh.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF524846
, AF524841, AF524842, AF524843, AF524844, AF524845 Genomic DNA. Translation: AAN77287.1.
AK126662 mRNA. Translation: BAG54352.1.
CH471056 Genomic DNA. Translation: EAX05036.1.
BC101178 mRNA. Translation: AAI01179.1.
BC101179 mRNA. Translation: AAI01180.1.
CCDSiCCDS3766.1.
RefSeqiNP_758454.1. NM_172250.2.
XP_011529986.1. XM_011531684.2.
XP_011529987.1. XM_011531685.2.
UniGeneiHs.452864.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2WWWX-ray2.64A/B/C/D72-418[»]
ProteinModelPortaliQ8IVH4.
SMRiQ8IVH4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127933. 3 interactors.
IntActiQ8IVH4. 1 interactor.
STRINGi9606.ENSP00000281317.

Chemistry databases

DrugBankiDB00115. Cyanocobalamin.
DB00200. Hydroxocobalamin.

PTM databases

iPTMnetiQ8IVH4.
PhosphoSitePlusiQ8IVH4.
SwissPalmiQ8IVH4.

Polymorphism and mutation databases

BioMutaiMMAA.
DMDMi38258173.

Proteomic databases

EPDiQ8IVH4.
MaxQBiQ8IVH4.
PaxDbiQ8IVH4.
PeptideAtlasiQ8IVH4.
PRIDEiQ8IVH4.

Protocols and materials databases

DNASUi166785.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000281317; ENSP00000281317; ENSG00000151611.
GeneIDi166785.
KEGGihsa:166785.
UCSCiuc003ikh.5. human.

Organism-specific databases

CTDi166785.
DisGeNETi166785.
GeneCardsiMMAA.
GeneReviewsiMMAA.
HGNCiHGNC:18871. MMAA.
HPAiHPA037361.
MalaCardsiMMAA.
MIMi251100. phenotype.
607481. gene.
neXtProtiNX_Q8IVH4.
OpenTargetsiENSG00000151611.
Orphaneti79310. Vitamin B12-responsive methylmalonic acidemia type cblA.
PharmGKBiPA134912808.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFVS. Eukaryota.
COG1703. LUCA.
GeneTreeiENSGT00390000009908.
HOVERGENiHBG045588.
InParanoidiQ8IVH4.
KOiK07588.
PhylomeDBiQ8IVH4.
TreeFamiTF313243.

Enzyme and pathway databases

UniPathwayiUPA00148.
ReactomeiR-HSA-196741. Cobalamin (Cbl, vitamin B12) transport and metabolism.
R-HSA-3359475. Defective MMAA causes methylmalonic aciduria type cblA.
R-HSA-3359478. Defective MUT causes methylmalonic aciduria mut type.
R-HSA-71032. Propionyl-CoA catabolism.

Miscellaneous databases

EvolutionaryTraceiQ8IVH4.
GeneWikiiMMAA.
GenomeRNAii166785.
PROiQ8IVH4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000151611.
CleanExiHS_MMAA.
ExpressionAtlasiQ8IVH4. baseline and differential.
GenevisibleiQ8IVH4. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR005129. GTPase_ArgK.
IPR027417. P-loop_NTPase.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00750. lao. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiMMAA_HUMAN
AccessioniPrimary (citable) accession number: Q8IVH4
Secondary accession number(s): B3KX40, Q495G7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: March 1, 2003
Last modified: November 2, 2016
This is version 128 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 4
    Human chromosome 4: 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

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.