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Aliases for MMAA Gene

Aliases for MMAA Gene

  • Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type 2 3
  • Methylmalonic Aciduria (Cobalamin Deficiency) Type A 2
  • Methylmalonic Aciduria Type A Protein, Mitochondrial 3
  • EC 3.6.-.- 4
  • CblA 3

External Ids for MMAA Gene

Summaries for MMAA Gene

Entrez Gene Summary for MMAA Gene

  • The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

GeneCards Summary for MMAA Gene

MMAA (Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type) is a Protein Coding gene. Diseases associated with MMAA include mmaa-related methylmalonic acidemia and methylmalonic aciduria, vitamin b12-responsive. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include GTP binding and nucleoside-triphosphatase activity.

UniProtKB/Swiss-Prot for MMAA Gene

  • 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

Gene Wiki entry for MMAA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMAA Gene

Genomics for MMAA Gene

Genomic Location for MMAA Gene

Start:
145,618,263 bp from pter
End:
145,660,035 bp from pter
Size:
41,773 bases
Orientation:
Plus strand

Genomic View for MMAA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MMAA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMAA Gene

Regulatory Elements for MMAA Gene

Proteins for MMAA Gene

  • Protein details for MMAA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVH4-MMAA_HUMAN
    Recommended name:
    Methylmalonic aciduria type A protein, mitochondrial
    Protein Accession:
    Q8IVH4
    Secondary Accessions:
    • B3KX40
    • Q495G7

    Protein attributes for MMAA Gene

    Size:
    418 amino acids
    Molecular mass:
    46538 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MMAA Gene

neXtProt entry for MMAA Gene

Proteomics data for MMAA Gene at MOPED

Post-translational modifications for MMAA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MMAA Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MMAA Gene

Domains for MMAA Gene

Protein Domains for MMAA Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

MMAA_HUMAN
Family:
  • Belongs to the ArgK family.:
    • Q8IVH4
genes like me logo Genes that share domains with MMAA: view

No data available for Gene Families for MMAA Gene

Function for MMAA Gene

Molecular function for MMAA Gene

UniProtKB/Swiss-Prot Function: 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

Enzyme Numbers (IUBMB) for MMAA Gene

Gene Ontology (GO) - Molecular Function for MMAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005525 GTP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MMAA: view

Phenotypes for MMAA Gene

GenomeRNAi human phenotypes for MMAA:
genes like me logo Genes that share phenotypes with MMAA: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MMAA Gene

Localization for MMAA Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMAA Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MMAA Gene COMPARTMENTS Subcellular localization image for MMAA gene
Compartment Confidence
mitochondrion 4
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for MMAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MMAA: view

Pathways for MMAA Gene

SuperPathways for MMAA Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Fatty acid, triacylglycerol, and ketone body metabolism
3 Metabolism
4 Disease
genes like me logo Genes that share pathways with MMAA: view

UniProtKB/Swiss-Prot Q8IVH4-MMAA_HUMAN

  • Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis

Interacting Proteins for MMAA Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000281317%0d%0a9606.ENSP00000445920%0d%0a9606.ENSP00000244217%0d%0a9606.ENSP00000274813%0d%0a
Selected Interacting proteins: ENSP00000281317 Q8IVH4-MMAA_HUMAN for MMAA Gene via STRING I2D

Gene Ontology (GO) - Biological Process for MMAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation TAS --
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0009235 cobalamin metabolic process TAS --
GO:0009236 cobalamin biosynthetic process IEA --
genes like me logo Genes that share ontologies with MMAA: view

Compounds for MMAA Gene

(3) HMDB Compounds for MMAA Gene

Compound Synonyms Cas Number PubMed IDs
Adenosylcobalamin
  • (5'-Deoxy-5'-adenosyl)cobamide coenzyme
13870-90-1
Cobalamin
  • 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole
13408-78-1
Cyanocobalamin
  • Dimethylbenzimidazoylcobamide
68-19-9

(2) Drugbank Compounds for MMAA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cyanocobalamin
  • Cyanocob(III)alamin
68-19-9 target cofactor
Hydroxocobalamin
  • Hydroxomin
13422-51-0 target other/unknown

(2) Novoseek inferred chemical compound relationships for MMAA Gene

Compound -log(P) Hits PubMed IDs
adenosylcobalamin 91.6 2
vitamin b12 65.5 2
genes like me logo Genes that share compounds with MMAA: view

Transcripts for MMAA Gene

Unigene Clusters for MMAA Gene

Methylmalonic aciduria (cobalamin deficiency) cblA type:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MMAA Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -
SP3:

Relevant External Links for MMAA Gene

GeneLoc Exon Structure for
MMAA
ECgene alternative splicing isoforms for
MMAA

Expression for MMAA Gene

mRNA expression in normal human tissues for MMAA Gene

mRNA differential expression in normal tissues according to GTEx for MMAA Gene

This gene is overexpressed in Liver (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for MMAA Gene

SOURCE GeneReport for Unigene cluster for MMAA Gene Hs.452864

mRNA Expression by UniProt/SwissProt for MMAA Gene

Q8IVH4-MMAA_HUMAN
Tissue specificity: Widely expressed. Highest expression is observed in liver and skeletal muscle
genes like me logo Genes that share expressions with MMAA: view

Orthologs for MMAA Gene

This gene was present in the common ancestor of animals.

Orthologs for MMAA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MMAA 36
  • 99.76 (n)
  • 99.76 (a)
MMAA 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MMAA 36
  • 89.61 (n)
  • 88.25 (a)
MMAA 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MMAA 36
  • 91.99 (n)
  • 91.35 (a)
MMAA 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mmaa 36
  • 82.23 (n)
  • 81.91 (a)
Mmaa 16
Mmaa 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MMAA 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MMAA 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mmaa 36
  • 80.96 (n)
  • 80.88 (a)
chicken
(Gallus gallus)
Aves MMAA 36
  • 74.75 (n)
  • 76.98 (a)
MMAA 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMAA 37
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmaa 36
  • 72.6 (n)
  • 75.99 (a)
Str.18824 36
zebrafish
(Danio rerio)
Actinopterygii Dr.9506 36
mmaa 36
  • 63.36 (n)
  • 67.68 (a)
mmaa 37
  • 65 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mmaa-1 36
  • 54.71 (n)
  • 53.19 (a)
mmaa-1 37
  • 45 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.722 36
Species with no ortholog for MMAA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MMAA Gene

ENSEMBL:
Gene Tree for MMAA (if available)
TreeFam:
Gene Tree for MMAA (if available)

Paralogs for MMAA Gene

No data available for Paralogs for MMAA Gene

Variants for MMAA Gene

Sequence variations from dbSNP and Humsavar for MMAA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs1068 -- 145,646,497(-) TCTTG(A/G)TGAAC intron-variant
rs1390981 -- 145,625,549(-) AAATT(C/T)CTGAG intron-variant, upstream-variant-2KB
rs1390982 -- 145,644,192(-) TTTCC(C/T)ATGTC intron-variant
rs1497124 -- 145,627,562(-) CAATT(C/G)TCATT intron-variant
rs1497125 -- 145,618,478(-) GTGAT(A/G)AAGAT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MMAA Gene

Variant ID Type Subtype PubMed ID
nsv880237 CNV Gain 21882294
nsv830105 CNV Loss 17160897

Relevant External Links for MMAA Gene

HapMap Linkage Disequilibrium report
MMAA
Human Gene Mutation Database (HGMD)
MMAA
Locus Specific Mutation Databases (LSDB)
MMAA

Disorders for MMAA Gene

(1) OMIM Diseases for MMAA Gene (607481)

UniProtKB/Swiss-Prot

MMAA_HUMAN
  • Methylmalonic aciduria type cblA (MMAA) [MIM:251100]: A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. {ECO:0000269 PubMed:12438653, ECO:0000269 PubMed:15308131, ECO:0000269 PubMed:15523652, ECO:0000269 PubMed:23026888}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for MMAA Gene

(1) Novoseek inferred disease relationships for MMAA Gene

Disease -log(P) Hits PubMed IDs
methylmalonic aciduria 90.3 2

Relevant External Links for MMAA

GeneTests
MMAA
GeneReviews
MMAA
Genetic Association Database (GAD)
MMAA
genes like me logo Genes that share disorders with MMAA: view

Publications for MMAA Gene

  1. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. (PMID: 12438653) Dobson C.M. … Gravel R.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4 23
  2. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B(12) metabolism. (PMID: 15523652) Lerner-Ellis J.P. … Rosenblatt D.S. (Hum. Mutat. 2004) 3 4 23 25
  3. Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase. (PMID: 16641088) Padovani D. … Banerjee R. (J. Biol. Chem. 2006) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. (PMID: 15308131) Yang X. … Ohura T. (Mol. Genet. Metab. 2004) 3 4

Products for MMAA Gene

  • Addgene plasmids for MMAA

Sources for MMAA Gene

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