Version 5.4
Bos taurus Gene: MMACHC
Summary
InnateDB Gene IDBG-640081.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MMACHC
Gene Name Methylmalonic aciduria and homocystinuria type C protein homolog
Synonyms cblC
Species Bos taurus
Ensembl Gene ENSBTAG00000017027
Encoded Proteins
IDBP-692293
Methylmalonic aciduria and homocystinuria type C protein homolog
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000132763:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:101167828-101172831
Strand Reverse strand
Band
Transcripts
ENSBTAT00000022638 ENSBTAP00000022638
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0031419 cobalamin binding
Biological Process
GO:0009236 cobalamin biosynthetic process
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000132763
View Gene Order
ENSMUSG00000028690
View Gene Order
Pathways
NETPATH
REACTOME
REACT_208874
Defective GIF causes intrinsic factor deficiency pathway
REACT_223924
Defects in cobalamin (B12) metabolism pathway
REACT_223300
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_218264
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_227887
Defects in vitamin and cofactor metabolism pathway
REACT_217107
Defects in biotin (Btn) metabolism pathway
REACT_202103
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_210590
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_224094
Defective HLCS causes multiple carboxylase deficiency pathway
REACT_221779
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_210941
Defective BTD causes biotidinase deficiency pathway
REACT_222920
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_216256
Defective CD320 causes methylmalonic aciduria pathway
REACT_218209
Metabolism of water-soluble vitamins and cofactors pathway
REACT_209855
Metabolism of vitamins and cofactors pathway
REACT_212778
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_219139
Metabolism pathway
REACT_225745
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_223191
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_207087
Disease pathway
REACT_209972
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
REACT_212600
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_221291
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_169312
Defective HLCS causes multiple carboxylase deficiency pathway
REACT_169313
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_169316
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_169120
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_11238
Metabolism of water-soluble vitamins and cofactors pathway
REACT_169280
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_169149
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_169363
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_169178
Defective CD320 causes methylmalonic aciduria pathway
REACT_169429
Defects in cobalamin (B12) metabolism pathway
REACT_163862
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
REACT_169169
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_169238
Defects in biotin (Btn) metabolism pathway
REACT_169403
Defective BTD causes biotidinase deficiency pathway
REACT_169415
Defective GIF causes intrinsic factor deficiency pathway
REACT_169385
Defects in vitamin and cofactor metabolism pathway
REACT_169132
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_169256
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_169439
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_111217
Metabolism pathway
REACT_169318
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_116125
Disease pathway
REACT_11193
Metabolism of vitamins and cofactors pathway
REACT_189088
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_189085
Disease pathway
REACT_188937
Metabolism pathway
REACT_189089
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_189086
Defective GIF causes intrinsic factor deficiency pathway
REACT_189075
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_189076
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_189078
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_189098
Defective CD320 causes methylmalonic aciduria pathway
REACT_189097
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_189096
Defects in biotin (Btn) metabolism pathway
REACT_189095
Defective BTD causes biotidinase deficiency pathway
REACT_189093
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_189092
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_189091
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_189090
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_254651
Metabolism of vitamins and cofactors pathway
REACT_238663
Metabolism of water-soluble vitamins and cofactors pathway
REACT_189110
Defects in vitamin and cofactor metabolism pathway
REACT_189116
Defects in cobalamin (B12) metabolism pathway
REACT_189114
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_189118
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
REACT_189100
Defective HLCS causes multiple carboxylase deficiency pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q5E9C8
TrEMBL
UniProt Splice Variant
Entrez Gene 513433
UniGene Bt.15907
RefSeq NM_001015588
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL BT020992
GenPept AAX09009
RNA Seq Atlas 513433

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca