ENSMUSG00000028690


Mus musculus

Features
Gene ID: ENSMUSG00000028690
  
Biological name :Mmachc
  
Synonyms : Methylmalonic aciduria and homocystinuria type C protein homolog / Mmachc / Q9CZD0
  
Possible biological names infered from orthology : methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria / Q9Y4U1
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: D1
Gene start: 116702279
Gene end: 116708406
  
Corresponding Affymetrix probe sets: 10515363 (MoGene1.0st)   1418915_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000030453
NCBI entrez gene - 67096     See in Manteia.
MGI - MGI:1914346
RefSeq - NM_025962
RefSeq Peptide - NP_080238
swissprot - Q9CZD0
Ensembl - ENSMUSG00000028690
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mmachcENSDARG00000043877Danio rerio
 MMACHCENSGALG00000010234Gallus gallus
 MMACHCENSG00000132763Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR032037  Methylmalonic aciduria and homocystinuria type C family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006749 glutathione metabolic process IEA
 biological_processGO:0009235 cobalamin metabolic process IEA
 biological_processGO:0009236 cobalamin biosynthetic process ISO
 biological_processGO:0055114 oxidation-reduction process ISO
 biological_processGO:0070988 demethylation IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 molecular_functionGO:0016491 oxidoreductase activity ISO
 molecular_functionGO:0031419 cobalamin binding IEA
 molecular_functionGO:0032451 demethylase activity IEA
 molecular_functionGO:0033787 cyanocobalamin reductase (cyanide-eliminating) activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043295 glutathione binding IEA
 molecular_functionGO:0071949 FAD binding IEA


Pathways (from Reactome)
Pathway description
Cobalamin (Cbl, vitamin B12) transport and metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000195 hypocalcemia "subnormal concentrations of calcium ions in the circulating blood " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0000702 enlarged lymph nodes "lymph nodes of increased size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0001146 abnormal testis morphology "anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0001175 abnormal lung morphology "malformed organ of respiration" [J:35802]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0001697 abnormal embryo size "anomalous proportions of embryo compared to littermates" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0001729 impaired implantation "impaired ability of the blastocyst to attach to the endometrium of the uterus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gzmbtm1Ley/Gzmbtm1Ley,Serpinb9tm1.1Pib/Serpinb9tm1.1Pib
Genetic Background: involves: 129S2/SvPas * BALB/cJ * C57BL/6J

Allelic Composition: MmachcGt(AZ0348)Wtsi/MmachcGt(AZ0348)Wtsi
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0002192 hydrops fetalis "an abnormal accumulation of serous fluid in fetal tissues" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0002631 abnormal epididymis morphology "malformation of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

Allelic Composition: Mmachctm1.1(NCOM)Mfgc/Mmachctm1.1(NCOM)Mfgc
Genetic Background: C57BL/6N-Mmachctm1.1(NCOM)Mfgc/Tcp

 MP:0002697 abnormal eye size "anomalous bulk of the organ of vision" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Mmachctm1.1(NCOM)Mfgc/Mmachctm1.1(NCOM)Mfgc
Genetic Background: C57BL/6N-Mmachctm1.1(NCOM)Mfgc/Tcp

 MP:0002966 decreased circulating alkaline phosphatase level "reduced activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0002989 small kidney "reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0003694 failure to hatch from the zona pellucida "the embryo fails to break out of the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, may be seen in vivo or in cultured embryos" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: MmachcGt(AZ0348)Wtsi/MmachcGt(AZ0348)Wtsi
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

 MP:0004002 abnormal jejunum morphology "malformation of the portion of the small intestine that extends from the duodenum to the ileum" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mmachctm1.1(NCOM)Mfgc/Mmachctm1.1(NCOM)Mfgc
Genetic Background: C57BL/6N-Mmachctm1.1(NCOM)Mfgc/Tcp

 MP:0004179 transmission ratio distortion "the occurence of an allele or haplotype in the offspring of an organism at skewed Mendelian ratios" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: MmachcGt(AZ0348)Wtsi/MmachcGt(AZ0348)Wtsi
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

 MP:0005266 abnormal metabolism "anomalous chemical and physical changes occurring in tissue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: MmachcGt(AZ0348)Wtsi/MmachcGt(AZ0348)Wtsi
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

 MP:0005382 craniofacial phenotype 
Show

Allelic Composition: Mmachctm1.1(NCOM)Mfgc/Mmachctm1.1(NCOM)Mfgc
Genetic Background: C57BL/6N-Mmachctm1.1(NCOM)Mfgc/Tcp

 MP:0005561 increased mean corpuscular hemoglobin "greater than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mc1rtm1.1(KOMP)Vlcg/Mc1rtm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Mc1rtm1.1(KOMP)Vlcg/Ucd

 MP:0008528 polycystic kidney "the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mmachctm1.1(NCOM)Mfgc/Mmachctm1.1(NCOM)Mfgc
Genetic Background: C57BL/6N-Mmachctm1.1(NCOM)Mfgc/Tcp

 MP:0009931 abnormal skin appearance "skin that looks different from the usual state" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mmachctm1.1(NCOM)Mfgc/Mmachctm1.1(NCOM)Mfgc
Genetic Background: C57BL/6N-Mmachctm1.1(NCOM)Mfgc/Tcp

 MP:0011094 complete embryonic lethality before implantation "death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:csmith]
Show

Allelic Composition: Gzmbtm1Ley/Gzmbtm1Ley,Serpinb9tm1.1Pib/Serpinb9tm1.1Pib
Genetic Background: involves: 129S2/SvPas * BALB/cJ * C57BL/6J

Allelic Composition: MmachcGt(AZ0348)Wtsi/MmachcGt(AZ0348)Wtsi
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

 MP:0012117 decreased trophectoderm cell proliferation 
Show

Allelic Composition: MmachcGt(AZ0348)Wtsi/MmachcGt(AZ0348)Wtsi
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

 MP:0012128 abnormal blastocyst formation "atypical formation of a blastocyst from a solid ball of cells known as a morula, including anomalies in the formation of a fluid-filled cavity (blastocoele) and/or initiation of inner cell mass and trophectoderm differentiation" [MGI:anna]
Show

Allelic Composition: MmachcGt(AZ0348)Wtsi/MmachcGt(AZ0348)Wtsi
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

 MP:0012335 increased circulating homocysteine level "greater amount in the blood of sulfur-containing alpha-amino acid found in the plasma; blood levels are regulated by folic acid, vitamin B6 and vitamin B12" [MGI:csmith]
Show

Allelic Composition: MmachcGt(AZ0348)Wtsi/MmachcGt(AZ0348)Wtsi
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000026766 Mmadhc / Q99LS1 / Methylmalonic aciduria and homocystinuria type D homolog, mitochondrial / Q9H3L0* / methylmalonic aciduria and homocystinuria, cblD type*  / complex / reaction






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr