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Aliases for MMACHC Gene

Aliases for MMACHC Gene

  • Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria 2 3 5
  • CblC 3

External Ids for MMACHC Gene

Previous GeneCards Identifiers for MMACHC Gene

  • GC01P045636
  • GC01P045733
  • GC01P045965
  • GC01P044077

Summaries for MMACHC Gene

Entrez Gene Summary for MMACHC Gene

  • The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

GeneCards Summary for MMACHC Gene

MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria) is a Protein Coding gene. Diseases associated with MMACHC include methylmalonic aciduria and homocystinuria, cblc type and homocystinuria. Among its related pathways are Metabolism and Infectious disease. GO annotations related to this gene include cobalamin binding.

UniProtKB/Swiss-Prot for MMACHC Gene

  • May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).

Gene Wiki entry for MMACHC Gene

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

Genomics for MMACHC Gene

Regulatory Elements for MMACHC Gene

Promoters for MMACHC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MMACHC on UCSC Golden Path with GeneCards custom track

Genomic Location for MMACHC Gene

Chromosome:
1
Start:
45,500,053 bp from pter
End:
45,513,382 bp from pter
Size:
13,330 bases
Orientation:
Plus strand

Genomic View for MMACHC Gene

Genes around MMACHC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MMACHC Gene

Proteins for MMACHC Gene

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

    Protein Symbol:
    Q9Y4U1-MMAC_HUMAN
    Recommended name:
    Methylmalonic aciduria and homocystinuria type C protein
    Protein Accession:
    Q9Y4U1
    Secondary Accessions:
    • Q5T157
    • Q9BRQ7

    Protein attributes for MMACHC Gene

    Size:
    282 amino acids
    Molecular mass:
    31728 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH06122.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MMACHC Gene

neXtProt entry for MMACHC Gene

Proteomics data for MMACHC Gene at MOPED

Post-translational modifications for MMACHC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MMACHC Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MMACHC Gene

Domains & Families for MMACHC Gene

Protein Domains for MMACHC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MMACHC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4U1

UniProtKB/Swiss-Prot:

MMAC_HUMAN :
  • Belongs to the MMACHC family.
Family:
  • Belongs to the MMACHC family.
genes like me logo Genes that share domains with MMACHC: view

No data available for Gene Families for MMACHC Gene

Function for MMACHC Gene

Molecular function for MMACHC Gene

UniProtKB/Swiss-Prot Function:
May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).

Gene Ontology (GO) - Molecular Function for MMACHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity TAS --
genes like me logo Genes that share ontologies with MMACHC: view
genes like me logo Genes that share phenotypes with MMACHC: view

Human Phenotype Ontology for MMACHC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MMACHC

miRNA for MMACHC Gene

miRTarBase miRNAs that target MMACHC

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MMACHC Gene

Localization for MMACHC Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMACHC Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MMACHC Gene COMPARTMENTS Subcellular localization image for MMACHC gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
golgi apparatus 2
plasma membrane 2

No data available for Gene Ontology (GO) - Cellular Components for MMACHC Gene

Pathways & Interactions for MMACHC Gene

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

UniProtKB/Swiss-Prot Q9Y4U1-MMAC_HUMAN

  • Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis.

Interacting Proteins for MMACHC Gene

Gene Ontology (GO) - Biological Process for MMACHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009235 cobalamin metabolic process TAS --
GO:0009236 cobalamin biosynthetic process IEA --
genes like me logo Genes that share ontologies with MMACHC: view

No data available for SIGNOR curated interactions for MMACHC Gene

Drugs & Compounds for MMACHC Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, other/unknown 227
Cyanocobalamin Approved Nutra Target, cofactor 227
Cobalamin Nutra 227
Cobalt Pharma 155
genes like me logo Genes that share compounds with MMACHC: view

Transcripts for MMACHC Gene

mRNA/cDNA for MMACHC Gene

Unigene Clusters for MMACHC Gene

Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria:
Representative Sequences:

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

No ASD Table

Relevant External Links for MMACHC Gene

GeneLoc Exon Structure for
MMACHC
ECgene alternative splicing isoforms for
MMACHC

Expression for MMACHC Gene

mRNA expression in normal human tissues for MMACHC Gene

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

This gene is overexpressed in Liver (x4.8).

Protein differential expression in normal tissues from HIPED for MMACHC Gene

This gene is overexpressed in Gallbladder (40.8) and Testis (28.2).

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



SOURCE GeneReport for Unigene cluster for MMACHC Gene Hs.13024

mRNA Expression by UniProt/SwissProt for MMACHC Gene

Q9Y4U1-MMAC_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with MMACHC: view

Protein tissue co-expression partners for MMACHC Gene

Primer Products

In Situ Assay Products

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

Orthologs for MMACHC Gene

This gene was present in the common ancestor of animals.

Orthologs for MMACHC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MMACHC 35
  • 88.45 (n)
  • 88.21 (a)
MMACHC 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MMACHC 35
  • 86.36 (n)
  • 88.26 (a)
-- 36
  • 88 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia MMACHC 35
  • 99.41 (n)
  • 99.65 (a)
MMACHC 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mmachc 35
  • 83.69 (n)
  • 84.53 (a)
mouse
(Mus musculus)
Mammalia Mmachc 16
Mmachc 36
  • 85 (a)
OneToOne
Mmachc 35
  • 82.56 (n)
  • 83.15 (a)
oppossum
(Monodelphis domestica)
Mammalia MMACHC 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves MMACHC 35
  • 63.55 (n)
  • 61.28 (a)
MMACHC 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMACHC 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmachc 35
  • 58.85 (n)
  • 58.66 (a)
Str.14656 35
zebrafish
(Danio rerio)
Actinopterygii mmachc 35
  • 58.87 (n)
  • 51.08 (a)
wufc29d04 35
mmachc 36
  • 43 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cblc-1 35
  • 48.67 (n)
  • 39.91 (a)
cblc-1 36
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for MMACHC:
  • 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 MMACHC Gene

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

Paralogs for MMACHC Gene

Pseudogenes.org Pseudogenes for MMACHC Gene

genes like me logo Genes that share paralogs with MMACHC: view

No data available for Paralogs for MMACHC Gene

Variants for MMACHC Gene

Sequence variations from dbSNP and Humsavar for MMACHC Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_024770 Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
VAR_024771 Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
VAR_024772 Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
VAR_024773 Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
rs140522266 Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) 45,508,806(+) ATCAG(A/C/G)TGTGT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv829726 CNV Loss 17160897

Variation tolerance for MMACHC Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.57; 65.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MMACHC Gene

HapMap Linkage Disequilibrium report
MMACHC
Human Gene Mutation Database (HGMD)
MMACHC

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

Disorders for MMACHC Gene

MalaCards: The human disease database

(9) MalaCards diseases for MMACHC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
methylmalonic aciduria and homocystinuria, cblc type
  • methylmalonic aciduria and homocystinuria type cblc
homocystinuria
  • cbs deficiency
methylmalonic acidemia with homocystinuria
  • methylmalonic acidemia and homocystinemia
benign concentric annular macular dystrophy
methylmalonic acidemia
  • methylmalonic acidemia, cbla type
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MMAC_HUMAN
  • Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. {ECO:0000269 PubMed:16311595, ECO:0000269 PubMed:20219402, ECO:0000269 PubMed:25809485}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MMACHC

Genetic Association Database (GAD)
MMACHC
Human Genome Epidemiology (HuGE) Navigator
MMACHC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MMACHC
genes like me logo Genes that share disorders with MMACHC: view

No data available for Genatlas for MMACHC Gene

Publications for MMACHC Gene

  1. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (PMID: 16311595) Lerner-Ellis J.P. … Rosenblatt D.S. (Nat. Genet. 2006) 2 3 4 23 25 26 67
  2. Late-onset cobalamin-C disorder: a challenging diagnosis. (PMID: 17431913) Ben-Omran T.I. … Feigenbaum A. (Am. J. Med. Genet. A 2007) 3 23 25 26
  3. Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. (PMID: 16843692) Chandler R.J. … Venditti C.P. (Mol. Genet. Metab. 2006) 23 25 26
  4. Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product. (PMID: 19447654) Hannibal L. … Jacobsen D.W. (Mol. Genet. Metab. 2009) 3 23
  5. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. (PMID: 19700356) Froese D.S. … Gravel R.A. (Mol. Genet. Metab. 2009) 3 23

Products for MMACHC Gene

Sources for MMACHC Gene

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