Mmachc (metabolism of cobalamin associated C) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: Mmachc (metabolism of cobalamin associated C) Rattus norvegicus
Analyze
Symbol: Mmachc
Name: metabolism of cobalamin associated C
RGD ID: 1310806
Description: Predicted to enable several functions, including anion binding activity; cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity; and protein homodimerization activity. Predicted to be involved in cobalamin metabolic process; demethylation; and glutathione metabolic process. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblC. Orthologous to human MMACHC (metabolism of cobalamin associated C); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene; 4,4'-diaminodiphenylmethane.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: cyanocobalamin reductase / alkylcobalamin dealkylase; LOC313520; methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria; RGD1310806; similar to RIKEN cDNA 1810037K07
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85135,403,094 - 135,409,285 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl5135,402,404 - 135,409,235 (-)EnsemblGRCr8
mRatBN7.25130,166,056 - 130,172,735 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5130,166,451 - 130,172,601 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx5132,792,463 - 132,798,604 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05134,547,064 - 134,553,205 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05134,569,472 - 134,575,613 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.05135,555,587 - 135,561,723 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5135,555,565 - 135,561,914 (-)Ensemblrn6Rnor6.0
Rnor_5.05139,351,762 - 139,357,898 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.45136,995,231 - 137,001,367 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera5128,693,619 - 128,699,745 (-)NCBICelera
RGSC_v3.15137,001,103 - 137,006,588 (-)NCBI
Cytogenetic Map5q35NCBI
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA,ISO)
cytosol  (ISO)
nucleoplasm  (ISO)

References

References - curated
# Reference Title Reference Citation
1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:18614015   PMID:19700356   PMID:19801555   PMID:22642810   PMID:23270877   PMID:23825108  


Genomics

Comparative Map Data
Mmachc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85135,403,094 - 135,409,285 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl5135,402,404 - 135,409,235 (-)EnsemblGRCr8
mRatBN7.25130,166,056 - 130,172,735 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5130,166,451 - 130,172,601 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx5132,792,463 - 132,798,604 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05134,547,064 - 134,553,205 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05134,569,472 - 134,575,613 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.05135,555,587 - 135,561,723 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5135,555,565 - 135,561,914 (-)Ensemblrn6Rnor6.0
Rnor_5.05139,351,762 - 139,357,898 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.45136,995,231 - 137,001,367 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera5128,693,619 - 128,699,745 (-)NCBICelera
RGSC_v3.15137,001,103 - 137,006,588 (-)NCBI
Cytogenetic Map5q35NCBI
MMACHC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38145,500,300 - 45,513,382 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl145,500,300 - 45,513,382 (+)Ensemblhg38GRCh38
GRCh37145,965,972 - 45,979,054 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36145,738,443 - 45,749,326 (+)NCBIBuild 36Build 36hg18NCBI36
Celera144,249,947 - 44,260,829 (+)NCBICelera
Cytogenetic Map1p34.1NCBI
HuRef144,077,989 - 44,088,405 (+)NCBIHuRef
CHM1_1146,083,117 - 46,094,004 (+)NCBICHM1_1
T2T-CHM13v2.0145,372,667 - 45,385,751 (+)NCBIT2T-CHM13v2.0
Mmachc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394116,559,631 - 116,565,582 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4116,559,476 - 116,565,603 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm384116,702,434 - 116,708,385 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4116,702,279 - 116,708,406 (-)Ensemblmm10GRCm38
MGSCv374116,375,039 - 116,380,990 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv364116,200,367 - 116,206,253 (-)NCBIMGSCv36mm8
Celera4115,436,428 - 115,442,379 (-)NCBICelera
Cytogenetic Map4D1NCBI
cM Map453.29NCBI
Mmachc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546412,772,420 - 12,780,612 (-)Ensembl
ChiLan1.0NW_00495546412,774,018 - 12,780,612 (-)NCBIChiLan1.0ChiLan1.0
MMACHC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21181,295,944 - 181,308,711 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11180,437,231 - 180,450,202 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0144,802,724 - 44,811,893 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1146,160,364 - 46,171,672 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl146,160,364 - 46,171,662 (+)EnsemblpanPan2panpan1.1
MMACHC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11514,857,236 - 14,863,211 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1514,857,231 - 14,863,113 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1514,978,374 - 14,984,360 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01515,012,610 - 15,018,557 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1515,012,957 - 15,018,719 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11514,809,847 - 14,815,842 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01514,877,398 - 14,883,398 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01514,949,428 - 14,955,416 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Mmachc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505860,803,821 - 60,816,704 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647426,636,245 - 26,641,486 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493647426,636,277 - 26,641,486 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MMACHC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6165,860,785 - 165,865,642 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.16165,860,888 - 165,865,674 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26153,266,917 - 153,271,703 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MMACHC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12087,279,028 - 87,289,444 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2087,279,254 - 87,289,490 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603329,672,896 - 29,682,539 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mmachc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249061,398,724 - 1,409,311 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046249061,398,666 - 1,404,709 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Mmachc
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1140,339,969 - 40,346,059 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Mmachc
50 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:265
Count of miRNA genes:184
Interacting mature miRNAs:201
Transcripts:ENSRNOT00000023178
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1331796Thshl2Thyroid stimulating hormone level QTL 22.3blood thyroid-stimulating hormone amount (VT:0005119)serum thyroid stimulating hormone level (CMO:0001248)5102105698152749382Rat
2303586Gluco52Glucose level QTL 522blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)5100826632145826632Rat
10053720Scort26Serum corticosterone level QTL 262.060.0147blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)5130249266172190305Rat
1549845Scl44Serum cholesterol level QTL 446blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)544924861153890773Rat
8552960Pigfal15Plasma insulin-like growth factor 1 level QTL 15blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)5116702075161702075Rat
1354583Despr3Despair related QTL34.980.0002locomotor behavior trait (VT:0001392)amount of time spent in voluntary immobility (CMO:0001043)5132930505172190305Rat
70212Niddm25Non-insulin dependent diabetes mellitus QTL 253.54blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)538207390136631402Rat
1300122Wbc1White blood cell count QTL 12.75leukocyte quantity (VT:0000217)total white blood cell count (CMO:0000365)5130678987145274255Rat
7365049Bp359Blood pressure QTL 359arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5133308734140009902Rat
61452Ciaa5CIA Autoantibody QTL 53.5blood autoantibody amount (VT:0003725)calculated serum anti-rat type 2 collagen autoantibody titer (CMO:0001281)599905133172190305Rat
70156Niddm30Non-insulin dependent diabetes mellitus QTL 303.98blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)5134369218156289444Rat
8552908Pigfal4Plasma insulin-like growth factor 1 level QTL 46.6blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)5133789363172190305Rat
1331803Rf32Renal function QTL 322.798kidney blood vessel physiology trait (VT:0100012)absolute change in renal vascular resistance (CMO:0001900)5134369199172190305Rat
7411582Foco3Food consumption QTL 37.50.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)592583776137583776Rat
61393Bp7Blood pressure QTL 74.50.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)565089051166764498Rat
7207486Bss109Bone structure and strength QTL 109femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)5112142946157142946Rat
7207481Bss106Bone structure and strength QTL 1067.9femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)5112142946157142946Rat
1302790Scl20Serum cholesterol level QTL 206.40.0001blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)5110770739155770739Rat
1598861Cm64Cardiac mass QTL 642.9heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)5133081618172190305Rat
1578766Tcas11Tongue tumor susceptibility QTL 114.12tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)551657967166600247Rat
1581505Rf54Renal function QTL 54kidney physiology trait (VT:0002136)kidney 20-HETE level (CMO:0001854)5133270647172190305Rat
1549838Bss4Bone structure and strength QTL 49.2femur strength trait (VT:0010010)femur midshaft polar moment of inertia (CMO:0001669)5112142946157142946Rat
8694169Bw148Body weight QTL 14850.001body mass (VT:0001259)body weight gain (CMO:0000420)5133789363172190305Rat
7411564Bw135Body weight QTL 1350.001body mass (VT:0001259)body weight gain (CMO:0000420)592583776137583776Rat
1581510Cm54Cardiac mass QTL 543.40.05heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)5125969677172190305Rat
8657050Bw146Body weight QTL 14619.840.001body mass (VT:0001259)body weight gain (CMO:0000420)598972960143972960Rat
1576312Emca8Estrogen-induced mammary cancer QTL 84.1mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)555124766172190305Rat
7411601Foco12Food consumption QTL 1219.70.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)592583776137583776Rat
2303618Vencon1Ventilatory control QTL 13.8respiration trait (VT:0001943)oxygen consumption (CMO:0002169)5100826632145826632Rat
2317056Wbc3White blood cell count QTL 32.510.01leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)5111236572156236572Rat
724525Bp147Blood pressure QTL 1474.30.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5131708216172190305Rat
7394710Emca12Estrogen-induced mammary cancer QTL 12mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)594034903139034903Rat
1598847Cm62Cardiac mass QTL 623.4heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)5114131300159131300Rat
2293642Bss37Bone structure and strength QTL 374.640.0001femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)5125969677156302135Rat
70189Mcs5Mammary carcinoma susceptibility QTL 510.51mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)560601597137492949Rat
8694441Bw169Body weight QTL 16917.610.001retroperitoneal fat pad mass (VT:0010430)retroperitoneal fat pad weight to body weight ratio (CMO:0000635)5116702075161702075Rat
7207488Bss110Bone structure and strength QTL 18.4femur strength trait (VT:0010010)femur stiffness (CMO:0001674)5112142946157142946Rat
7207491Bss112Bone structure and strength QTL 1127femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)5112142946157142946Rat
8694389Bw160Body weight QTL 1606.170.001body lean mass (VT:0010483)lean tissue morphological measurement (CMO:0002184)5116702075161702075Rat
1354598Srn6Serum renin concentration QTL 63.8blood renin amount (VT:0003349)plasma renin activity level (CMO:0000116)574335621156302135Rat
2290448Scl54Serum cholesterol level QTL 542.93blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)536460764136631402Rat
8694198Abfw3Abdominal fat weight QTL 316.130.001visceral adipose mass (VT:0010063)abdominal fat pad weight to body weight ratio (CMO:0000095)5116702075161702075Rat
2306971Anxrr21Anxiety related response QTL 219.47fear/anxiety-related behavior trait (VT:1000241)number of entries into a discrete space in an experimental apparatus (CMO:0000960)570969494136328156Rat
1298089Scl14Serum cholesterol level QTL 145.80.0004blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)5114131300159131300Rat
1598819Bp292Blood pressure QTL 2924.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5133081618172190305Rat
6903316Bw113Body weight QTL 11320.0103body mass (VT:0001259)body weight (CMO:0000012)592881678137881678Rat
1358187Emca1Estrogen-induced mammary cancer QTL 14.4mammary gland integrity trait (VT:0010552)post-insult time to mammary tumor formation (CMO:0000345)5104262817153890625Rat

Markers in Region
RH141782  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.25130,166,555 - 130,166,759 (+)MAPPERmRatBN7.2
Rnor_6.05135,555,690 - 135,555,893NCBIRnor6.0
Rnor_5.05139,351,865 - 139,352,068UniSTSRnor5.0
RGSC_v3.45136,995,334 - 136,995,537UniSTSRGSC3.4
Celera5128,693,722 - 128,693,925UniSTS
RH 3.4 Map5836.5UniSTS
Cytogenetic Map5q36UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 12 67 164 91 90 59 89 59 6 353 189 11 143 81 92 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000023178   ⟹   ENSRNOP00000023178
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl5135,403,099 - 135,409,235 (-)Ensembl
mRatBN7.2 Ensembl5130,166,451 - 130,172,601 (-)Ensembl
Rnor_6.0 Ensembl5135,555,565 - 135,561,914 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000131109   ⟹   ENSRNOP00000101202
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl5135,402,404 - 135,409,235 (-)Ensembl
RefSeq Acc Id: NM_001107962   ⟹   NP_001101432
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85135,403,099 - 135,409,235 (-)NCBI
mRatBN7.25130,166,453 - 130,172,589 (-)NCBI
Rnor_6.05135,555,587 - 135,561,723 (-)NCBI
Rnor_5.05139,351,762 - 139,357,898 (-)NCBI
RGSC_v3.45136,995,231 - 137,001,367 (-)RGD
Celera5128,693,619 - 128,699,745 (-)RGD
Sequence:
RefSeq Acc Id: XM_039109993   ⟹   XP_038965921
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85135,403,094 - 135,409,285 (-)NCBI
mRatBN7.25130,166,056 - 130,172,735 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001101432 (Get FASTA)   NCBI Sequence Viewer  
  XP_038965921 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein EDL90263 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000023178
  ENSRNOP00000023178.3
  ENSRNOP00000101202.1
RefSeq Acc Id: NP_001101432   ⟸   NM_001107962
- UniProtKB: D4A729 (UniProtKB/TrEMBL),   A6JZ90 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000023178   ⟸   ENSRNOT00000023178
RefSeq Acc Id: XP_038965921   ⟸   XM_039109993
- Peptide Label: isoform X1
Ensembl Acc Id: ENSRNOP00000101202   ⟸   ENSRNOT00000131109

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D4A729-F1-model_v2 AlphaFold D4A729 1-279 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13693939
Promoter ID:EPDNEW_R4464
Type:multiple initiation site
Name:Mmachc_1
Description:methylmalonic aciduria cblC type, with homocystinuria
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.05135,561,728 - 135,561,788EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1310806 AgrOrtholog
BioCyc Gene G2FUF-40241 BioCyc
BioCyc Pathway PWY-7974 [cobalamin salvage (eukaryotic)] BioCyc
BioCyc Pathway Image PWY-7974 BioCyc
Ensembl Genes ENSRNOG00000017233 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000023178 ENTREZGENE
  ENSRNOT00000023178.7 UniProtKB/TrEMBL
  ENSRNOT00000131109.1 UniProtKB/TrEMBL
InterPro MMACHC UniProtKB/TrEMBL
KEGG Report rno:313520 UniProtKB/TrEMBL
NCBI Gene 313520 ENTREZGENE
PANTHER CYANOCOBALAMIN REDUCTASE / ALKYLCOBALAMIN DEALKYLASE UniProtKB/TrEMBL
  PTHR31457 UniProtKB/TrEMBL
Pfam MMACHC UniProtKB/TrEMBL
PhenoGen Mmachc PhenoGen
RatGTEx ENSRNOG00000017233 RatGTEx
UniProt A0ABK0L018_RAT UniProtKB/TrEMBL
  A6JZ90 ENTREZGENE, UniProtKB/TrEMBL
  D4A729 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-15 Mmachc  metabolism of cobalamin associated C  Mmachc  methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-03-06 Mmachc  methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria  Mmachc_predicted  methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (predicted)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2006-03-30 Mmachc_predicted  methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (predicted)  RGD1310806_predicted  similar to RIKEN cDNA 1810037K07 (predicted)  Symbol and Name updated 1299863 APPROVED
2005-01-20 RGD1310806_predicted  similar to RIKEN cDNA 1810037K07 (predicted)  LOC313520_predicted    Symbol and Name status set to approved 1331353 APPROVED
2005-01-12 LOC313520_predicted  similar to RIKEN cDNA 1810037K07 (predicted)      Symbol and Name status set to provisional 70820 PROVISIONAL