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Aliases for MMAA Gene

Aliases for MMAA Gene

  • Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type 2 3 5
  • Methylmalonic Aciduria (Cobalamin Deficiency) Type A 2
  • Methylmalonic Aciduria Type A Protein, Mitochondrial 3
  • Mutant Adenosylcobalamin 3
  • EC 3.6.-.- 4
  • CblA 3

External Ids for MMAA Gene

Previous GeneCards Identifiers for MMAA Gene

  • GC04P146932
  • GC04P147026
  • GC04P147137
  • GC04P147118
  • GC04P146898
  • GC04P146759
  • GC04P146540
  • GC04P142270

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 Methylmalonic Aciduria, Vitamin B12-Responsive and Methylmalonic Acidemia. Among its related pathways are Metabolism and HIV Life Cycle. GO annotations related to this gene include GTP binding and hydrolase 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

Additional gene information for MMAA Gene

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

Genomics for MMAA Gene

Regulatory Elements for MMAA Gene

Enhancers for MMAA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H145617 1.1 ENCODE 19.6 +1.2 1193 3.6 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 CBX5 MMAA ENSG00000248356 NCOA4P3
GH04H145679 0.9 Ensembl ENCODE 18.7 +61.9 61933 2 FOXA2 NR3C1 OSR2 ZSCAN21 HIC1 JUND ZNF366 GLIS1 ZNF629 FOS MMAA ENSG00000248356 C4orf51 GC04M145759
GH04H145728 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.3 +114.8 114828 8.4 FOXA2 PKNOX1 YY1 GLIS2 FOS RUNX3 SP3 SP5 JUNB REST MMAA GC04M145759 C4orf51
GH04H145544 1.1 Ensembl ENCODE dbSUPER 4.5 -72.5 -72463 3.4 JUN CEBPB EP300 ZFHX2 JUND PRDM6 POLR2A FOS MAFK EGR2 MMAA SMAD1-AS1 LOC285422
GH04H145530 1 Ensembl ENCODE dbSUPER 4.4 -85.8 -85794 3.5 ZNF121 POLR2A MAFK SMAD1-AS2 SMAD1 OTUD4 MMAA SMAD1-AS1 LOC285422
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MMAA on UCSC Golden Path with GeneCards custom track

Promoters for MMAA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000174284 937 2401 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 CBX5

Genomic Locations for MMAA Gene

Genomic Locations for MMAA Gene
chr4:145,618,263-145,660,035
(GRCh38/hg38)
Size:
41,773 bases
Orientation:
Plus strand
chr4:146,539,415-146,581,187
(GRCh37/hg19)

Genomic View for MMAA Gene

Genes around MMAA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMAA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMAA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for MMAA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MMAA Gene

No data available for DME Specific Peptides for MMAA Gene

Domains & Families for MMAA Gene

Gene Families for MMAA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MMAA Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MMAA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IVH4

UniProtKB/Swiss-Prot:

MMAA_HUMAN :
  • Belongs to the SIMIBI class G3E GTPase family. ArgK/MeaB subfamily.
Family:
  • Belongs to the SIMIBI class G3E GTPase family. ArgK/MeaB subfamily.
genes like me logo Genes that share domains with MMAA: view

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

Phenotypes From GWAS Catalog for MMAA Gene

Gene Ontology (GO) - Molecular Function for MMAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MMAA: view
genes like me logo Genes that share phenotypes with MMAA: view

Human Phenotype Ontology for MMAA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

  • Addgene plasmids for MMAA

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

Localization for MMAA Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMAA Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MMAA gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MMAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MMAA: view

Pathways & Interactions for MMAA Gene

genes like me logo Genes that share pathways with MMAA: view

UniProtKB/Swiss-Prot Q8IVH4-MMAA_HUMAN

  • Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis.

Gene Ontology (GO) - Biological Process for MMAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009235 cobalamin metabolic process TAS --
GO:0009236 cobalamin biosynthetic process IEA --
GO:0019626 short-chain fatty acid catabolic process TAS --
genes like me logo Genes that share ontologies with MMAA: view

No data available for SIGNOR curated interactions for MMAA Gene

Drugs & Compounds for MMAA Gene

(5) Drugs for MMAA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, other/unknown 267
Cyanocobalamin Approved Nutra Target, cofactor 268
Cobamamide Approved Pharma 0
Cobalamin Nutra 268
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:

Clone Products

  • Addgene plasmids for MMAA

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MMAA Gene

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

This gene is overexpressed in Liver (x4.6).

Protein differential expression in normal tissues from HIPED for MMAA Gene

This gene is overexpressed in Heart (25.2) and Gallbladder (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MMAA Gene



Protein tissue co-expression partners for MMAA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MMAA Gene:

MMAA

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.

Evidence on tissue expression from TISSUES for MMAA Gene

  • Nervous system(4.5)
  • Liver(4.4)
  • Blood(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MMAA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
  • lung
Abdomen:
  • liver
  • stomach
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with MMAA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MMAA Gene

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 33 34
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia MMAA 33 34
  • 91.99 (n)
cow
(Bos Taurus)
Mammalia MMAA 33 34
  • 89.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MMAA 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mmaa 33 16 34
  • 82.23 (n)
rat
(Rattus norvegicus)
Mammalia Mmaa 33
  • 80.96 (n)
oppossum
(Monodelphis domestica)
Mammalia MMAA 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMAA 33 34
  • 74.75 (n)
lizard
(Anolis carolinensis)
Reptilia MMAA 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmaa 33
  • 72.6 (n)
Str.18824 33
zebrafish
(Danio rerio)
Actinopterygii mmaa 33 34
  • 63.36 (n)
Dr.9506 33
worm
(Caenorhabditis elegans)
Secernentea mmaa-1 33 34
  • 54.71 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.722 33
Species where no ortholog for MMAA was found in the sources mined by GeneCards:
  • 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
rs104893849 Pathogenic, Methylmalonic aciduria type cblA (MMAA) [MIM:251100] 145,646,043(+) TGCAT(A/G)CATCA reference, missense
rs200577967 Methylmalonic aciduria type cblA (MMAA) [MIM:251100] 145,639,573(+) ATTTC(A/G)AGTAG reference, missense, utr-variant-5-prime
rs864309726 Pathogenic, Methylmalonic aciduria type cblA (MMAA) [MIM:251100] 145,639,405(+) TAAAC(C/T)TTATA reference, missense, utr-variant-5-prime
rs864309730 Pathogenic, Methylmalonic aciduria type cblA (MMAA) [MIM:251100] 145,646,076(+) TTTAG(A/G)AGGCG reference, missense
rs864309731 Pathogenic, Methylmalonic aciduria type cblA (MMAA) [MIM:251100] 145,655,253(+) CAAAC(A/G)ACGGA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv830105 CNV loss 17160897

Variation tolerance for MMAA Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.80; 66.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MMAA Gene

Human Gene Mutation Database (HGMD)
MMAA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMAA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMAA Gene

Disorders for MMAA Gene

MalaCards: The human disease database

(8) MalaCards diseases for MMAA Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
methylmalonic aciduria, vitamin b12-responsive
  • methylmalonic aciduria type cbla
methylmalonic acidemia
  • methylmalonic acidemia, cbla type
mmaa-related methylmalonic acidemia
  • mmaa-related methylmalonic aciduria
vitamin b12-responsive methylmalonic acidemia
  • adenosylcobalamin deficiency
transcobalamin ii deficiency
  • tcn2 deficiency
- elite association - COSMIC cancer census association via MalaCards
Search MMAA in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MMAA

Genetic Association Database (GAD)
MMAA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MMAA
genes like me logo Genes that share disorders with MMAA: view

No data available for Genatlas for MMAA Gene

Publications for MMAA Gene

  1. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. (PMID: 15523652) Lerner-Ellis JP … Rosenblatt DS (Human mutation 2004) 3 4 22 25 60
  2. 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 CM … Gravel RA (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4 22 60
  3. High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. (PMID: 23026888) Dempsey-Nunez L … Rosenblatt DS (Molecular genetics and metabolism 2012) 3 4 60
  4. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. (PMID: 20876572) Froese DS … Yue WW (The Journal of biological chemistry 2010) 3 4 60
  5. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. (PMID: 17957493) Merinero B … Ugarte M (Journal of inherited metabolic disease 2008) 3 22 60

Products for MMAA Gene

Sources for MMAA Gene

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