Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MMACHC Gene

Aliases for MMACHC Gene

  • Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria 2 3
  • Methylmalonic Aciduria And Homocystinuria Type C Protein 3
  • CblC 3

External Ids for MMACHC Gene

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 the organic acidemias: an. Among its related pathways are Disease and Metabolism. 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

Genomic Location for MMACHC Gene

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

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

RefSeq DNA sequence for MMACHC Gene

Regulatory Elements 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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MMACHC Gene

Domains for MMACHC Gene

Protein Domains for MMACHC Gene

ProtoNet:

UniProtKB/Swiss-Prot:

MMAC_HUMAN
Family:
  • Belongs to the MMACHC family.:
    • Q9Y4U1
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:0005515 protein binding IPI 23825108
GO:0031419 cobalamin binding IEA --
genes like me logo Genes that share ontologies with MMACHC: view

miRNA for MMACHC Gene

miRTarBase miRNAs that target MMACHC

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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 2
golgi apparatus 2
mitochondrion 2
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for MMACHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MMACHC: view

Pathways for MMACHC Gene

SuperPathways 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: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 --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with MMACHC: view

Compounds for MMACHC Gene

(3) HMDB Compounds for MMACHC Gene

Compound Synonyms Cas Number PubMed IDs
Cobalamin
  • 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole
13408-78-1
Cobalt
  • Co
7440-48-4
Cyanocobalamin
  • Dimethylbenzimidazoylcobamide
68-19-9

(2) Drugbank Compounds for MMACHC 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 MMACHC Gene

Compound -log(P) Hits PubMed IDs
cobalamin 83 5
vitamin b12 53.5 10
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 (4.8).

Integrated Proteomics: protein expression 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 expressions with MMACHC: view

Orthologs for MMACHC Gene

This gene was present in the common ancestor of animals.

Orthologs for MMACHC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MMACHC 36
  • 99.41 (n)
  • 99.65 (a)
MMACHC 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MMACHC 36
  • 88.45 (n)
  • 88.21 (a)
MMACHC 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 88 (a)
OneToMany
-- 37
  • 85 (a)
OneToMany
MMACHC 36
  • 86.36 (n)
  • 88.26 (a)
mouse
(Mus musculus)
Mammalia Mmachc 36
  • 82.56 (n)
  • 83.15 (a)
Mmachc 16
Mmachc 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MMACHC 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 72 (a)
OneToMany
-- 37
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mmachc 36
  • 83.69 (n)
  • 84.53 (a)
chicken
(Gallus gallus)
Aves MMACHC 36
  • 63.55 (n)
  • 61.28 (a)
MMACHC 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMACHC 37
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmachc 36
  • 58.85 (n)
  • 58.66 (a)
Str.14656 36
zebrafish
(Danio rerio)
Actinopterygii mmachc 36
  • 58.87 (n)
  • 51.08 (a)
mmachc 37
  • 43 (a)
OneToOne
wufc29d04 36
worm
(Caenorhabditis elegans)
Secernentea cblc-1 36
  • 48.67 (n)
  • 39.91 (a)
cblc-1 37
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs882803 -- 45,510,475(+) GGACC(A/G)CCTGA utr-variant-3-prime
rs2275276 Benign 45,508,256(+) GAGGT(A/G)CACCC synonymous-codon, reference
rs3215980 -- 45,507,763(+) TGAAA(-/T)TAGTC intron-variant
rs4660865 -- 45,509,869(+) gaggt(C/G)gagtt utr-variant-3-prime, downstream-variant-500B
rs6658660 -- 45,506,301(+) ATGTT(C/G)ATTCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829726 CNV Loss 17160897

Relevant External Links for MMACHC Gene

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

Disorders for MMACHC Gene

(1) OMIM Diseases for MMACHC Gene (609831)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for MMACHC Gene

Relevant External Links for MMACHC

GeneTests
MMACHC
GeneReviews
MMACHC
Genetic Association Database (GAD)
MMACHC
Human Genome Epidemiology (HuGE) Navigator
MMACHC
genes like me logo Genes that share disorders with MMACHC: view

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
  2. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. (PMID: 19370762) Lerner-Ellis J.P. … Fowler B. (Hum. Mutat. 2009) 3 23 49
  3. 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
  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. [Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. (PMID: 19573432) Wang F. … Gu X.F. (Zhonghua Er Ke Za Zhi 2009) 23 49

Products for MMACHC Gene

Sources for MMACHC Gene

Back to Top

Content