Mmadhc (metabolism of cobalamin associated D) - Rat Genome Database

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Gene: Mmadhc (metabolism of cobalamin associated D) Rattus norvegicus
Analyze
Symbol: Mmadhc
Name: metabolism of cobalamin associated D
RGD ID: 1303272
Description: Predicted to be involved in cobalamin metabolic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol and mitochondrion. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblD. Orthologous to human MMADHC (metabolism of cobalamin associated D); INTERACTS WITH 17beta-estradiol; 3,4-methylenedioxymethamphetamine; bisphenol A.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: CblD; cobalamin trafficking protein CblD; methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; methylmalonic aciduria and homocystinuria type D homolog, mitochondrial; methylmalonic aciduria and homocystinuria, cblD type; MGC93805; RGD1303272; similar to RIKEN cDNA 2010311D03
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Candidate Gene For: Kidm53
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2334,708,649 - 34,726,554 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl334,708,649 - 34,726,771 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx338,102,766 - 38,120,695 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0346,687,484 - 46,705,415 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0344,478,719 - 44,496,636 (-)NCBIRnor_WKY
Rnor_6.0335,783,511 - 35,801,474 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl335,783,623 - 35,801,614 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0340,897,289 - 40,915,271 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4331,224,132 - 31,242,473 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1331,120,504 - 31,138,845 (-)NCBI
Celera332,887,861 - 32,905,961 (-)NCBICelera
Cytogenetic Map3q12NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (ISO,ISS)
cytosol  (ISO)
mitochondrion  (IBA,ISO,ISS)

Molecular Function

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. GOA pipeline RGD automated data pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:15489334   PMID:23270877   PMID:24722857  


Genomics

Comparative Map Data
Mmadhc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2334,708,649 - 34,726,554 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl334,708,649 - 34,726,771 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx338,102,766 - 38,120,695 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0346,687,484 - 46,705,415 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0344,478,719 - 44,496,636 (-)NCBIRnor_WKY
Rnor_6.0335,783,511 - 35,801,474 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl335,783,623 - 35,801,614 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0340,897,289 - 40,915,271 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4331,224,132 - 31,242,473 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1331,120,504 - 31,138,845 (-)NCBI
Celera332,887,861 - 32,905,961 (-)NCBICelera
Cytogenetic Map3q12NCBI
MMADHC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382149,569,637 - 149,587,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2149,569,637 - 149,587,778 (-)EnsemblGRCh38hg38GRCh38
GRCh372150,426,151 - 150,444,289 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362150,134,397 - 150,152,523 (-)NCBINCBI36Build 36hg18NCBI36
Build 342150,251,659 - 150,269,785NCBI
Celera2144,039,995 - 144,058,186 (-)NCBICelera
Cytogenetic Map2q23.2NCBI
HuRef2142,325,245 - 142,343,436 (-)NCBIHuRef
CHM1_12150,432,065 - 150,450,246 (-)NCBICHM1_1
T2T-CHM13v2.02150,020,083 - 150,038,221 (-)NCBIT2T-CHM13v2.0
Mmadhc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39250,169,893 - 50,189,033 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl250,169,893 - 50,186,813 (-)EnsemblGRCm39 Ensembl
GRCm38250,279,881 - 50,299,021 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl250,279,881 - 50,296,801 (-)EnsemblGRCm38mm10GRCm38
MGSCv37250,135,401 - 50,152,197 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36250,101,890 - 50,118,686 (-)NCBIMGSCv36mm8
Celera251,952,182 - 51,968,978 (-)NCBICelera
Cytogenetic Map2C1.1NCBI
Mmadhc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544015,316,822 - 15,337,688 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544015,317,877 - 15,338,139 (-)NCBIChiLan1.0ChiLan1.0
MMADHC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B153,924,371 - 153,942,537 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B153,924,371 - 153,942,537 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B10,278,656 - 10,298,700 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
MMADHC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11951,154,227 - 51,177,950 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1951,154,249 - 51,177,836 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1951,275,857 - 51,300,346 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01952,628,133 - 52,652,640 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1952,628,045 - 52,652,584 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11951,296,784 - 51,321,270 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01951,405,022 - 51,429,713 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01952,805,790 - 52,830,278 (-)NCBIUU_Cfam_GSD_1.0
Mmadhc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303113,830,468 - 113,846,017 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646927,771,937 - 27,787,233 (+)EnsemblSpeTri2.0
SpeTri2.0NW_00493646927,771,741 - 27,804,324 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MMADHC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl152,499,154 - 2,520,799 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1152,499,080 - 2,517,361 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2151,931,294 - 1,949,494 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MMADHC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11034,999,856 - 35,019,575 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1034,999,067 - 35,019,389 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040164,518,012 - 164,535,986 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mmadhc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248662,314,864 - 2,342,079 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248662,314,864 - 2,342,069 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Mmadhc
321 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:289
Count of miRNA genes:193
Interacting mature miRNAs:225
Transcripts:ENSRNOT00000066058
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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 (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
4889966Bss95Bone structure and strength QTL 954.4tibia area (VT:1000281)tibia-fibula cross-sectional area (CMO:0001718)3136847613Rat
2312664Scl62Serum cholesterol level QTL 620.05blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)3138710544Rat
631568Bp92Blood pressure QTL 922.20.005arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)3139874793Rat
2290452Scl56Serum cholesterol level QTL 562.26blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)3191609953Rat
10401810Kidm53Kidney mass QTL 53kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)3822719447233430Rat
70191BpQTLcluster4Blood pressure QTL cluster 43arterial blood pressure trait (VT:2000000)absolute change in mean arterial blood pressure (CMO:0000533)31077870450302886Rat
70191BpQTLcluster4Blood pressure QTL cluster 43arterial blood pressure trait (VT:2000000)absolute change in systolic blood pressure (CMO:0000607)31077870450302886Rat
1358905Hrtrt17Heart rate QTL 175.90.000014heart pumping trait (VT:2000009)heart rate (CMO:0000002)31086191289878372Rat
1358885Bp251Blood pressure QTL 2513.8arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)314489145121056321Rat
1358888Bp264Blood pressure QTL 2644.43arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)314489145121056321Rat
2298542Neuinf11Neuroinflammation QTL 113.9nervous system integrity trait (VT:0010566)spinal cord complement component 1, q subcomponent, B chain mRNA level (CMO:0002126)31500542276927699Rat
631676Cm8Cardiac mass QTL 87.030.0001aorta mass (VT:0002845)aorta weight (CMO:0000076)31695470861954708Rat
634306Bp140Blood pressure QTL 1403.30.0013arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)31737470335528639Rat
634306Bp140Blood pressure QTL 1403.30.0013arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)31737470335528639Rat
634306Bp140Blood pressure QTL 1403.30.0013arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)31737470335528639Rat
634306Bp140Blood pressure QTL 1403.30.0013arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)31737470335528639Rat
634306Bp140Blood pressure QTL 1403.30.0013arterial blood pressure trait (VT:2000000)heart rate (CMO:0000002)31737470335528639Rat
634306Bp140Blood pressure QTL 1403.30.0013arterial blood pressure trait (VT:2000000)heart rate (CMO:0000002)31737470335528639Rat
634306Bp140Blood pressure QTL 1403.30.0013arterial blood pressure trait (VT:2000000)body weight (CMO:0000012)31737470335528639Rat
634306Bp140Blood pressure QTL 1403.30.0013arterial blood pressure trait (VT:2000000)body weight (CMO:0000012)31737470335528639Rat
731172Bp151Blood pressure QTL 1510.04arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)31831145447233430Rat
12879849Bw180Body weight QTL 1800.037body mass (VT:0001259)body weight (CMO:0000012)31831145447233430Rat
12879850Cm91Cardiac mass QTL 910.001heart mass (VT:0007028)heart wet weight to body weight ratio (CMO:0002408)31831145447233430Rat
12879851Cm92Cardiac mass QTL 920.001heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)31831145447233430Rat
12879852Cm93Cardiac mass QTL 930.001heart right ventricle mass (VT:0007033)heart right ventricle weight to body weight ratio (CMO:0000914)31831145447233430Rat
12879853Am5Aortic mass QTL 50.001aorta mass (VT:0002845)aorta weight to aorta length to body weight ratio (CMO:0002722)31831145447233430Rat
12879854Kidm63Kidney mass QTL 630.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)31831145447233430Rat
10450804Scl70Serum cholesterol level QTL 704.70.001blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)32071409065714090Rat
10450794Scl69Serum cholesterol level QTL 696.30.001blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)32071409065714090Rat
1298073Cm13Cardiac mass QTL 132.5heart mass (VT:0007028)heart wet weight (CMO:0000069)32501391138192233Rat
631832Sach1Saccharin preference QTL 12.70.02consumption behavior trait (VT:0002069)calculated saccharin drink intake volume (CMO:0001600)32749462144188411Rat
2313049Bss72Bone structure and strength QTL 722.60.0001tibia area (VT:1000281)tibia midshaft cross-sectional area (CMO:0001717)32749462150302886Rat
2313076Bss74Bone structure and strength QTL 7420.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)32749462150302886Rat
2313079Bss73Bone structure and strength QTL 731.5tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)32749462150302886Rat
2313093Bmd77Bone mineral density QTL 772.20.0001tibia mineral mass (VT:1000283)cortical volumetric bone mineral density (CMO:0001730)32749462150302886Rat
2313101Bmd76Bone mineral density QTL 763.60.0001tibia mineral mass (VT:1000283)total volumetric bone mineral density (CMO:0001728)32749462150302886Rat
2302055Pia30Pristane induced arthritis QTL 303.50.001blood autoantibody amount (VT:0003725)serum immunoglobulin M-type rheumatoid factor level relative to an arbitrary reference serum (CMO:0002111)32793691972936919Rat
9590286Uminl1Urine mineral level QTL 13.50.001urine mineral amount (VT:0015086)urine electrolyte level (CMO:0000593)32824968773249687Rat
8694196Abfw2Abdominal fat weight QTL 216.580.001visceral adipose mass (VT:0010063)abdominal fat pad weight to body weight ratio (CMO:0000095)32824968773249687Rat
8694386Bw159Body weight QTL 1594.520.001body lean mass (VT:0010483)lean tissue morphological measurement (CMO:0002184)32824968773249687Rat
8552950Pigfal12Plasma insulin-like growth factor 1 level QTL 127.3blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)32824968773249687Rat
9590136Scort3Serum corticosterone level QTL 323.370.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)32824968773249687Rat
2303593Gluco46Glucose level QTL 463blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)32846857173468571Rat
1354590Despr11Despair related QTL 110.000031locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)32846857173468571Rat
737818Hcar12Hepatocarcinoma resistance QTL 122.6liver integrity trait (VT:0010547)volume of individual liver tumorous lesion (CMO:0001078)329463235118376539Rat
61419Cia11Collagen induced arthritis QTL 115.6joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)33035677398535386Rat
61356Bp37Blood pressure QTL 373blood pressure trait (VT:0000183)systolic blood pressure (CMO:0000004)33068464275684642Rat
631647Bp122Blood pressure QTL 1226.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)33068464275684642Rat
70216Cm14Cardiac mass QTL 142.1heart mass (VT:0007028)heart wet weight (CMO:0000069)331172320163586636Rat
11565451Bw177Body weight QTL 1770.002body mass (VT:0001259)body weight (CMO:0000012)33142640370668733Rat
11565452Kidm57Kidney mass QTL 570.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)33142640370668733Rat
12879866Cm94Cardiac mass QTL 940.001heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)33142640370668733Rat
12879867Cm95Cardiac mass QTL 950.047heart right ventricle mass (VT:0007033)heart right ventricle weight to body weight ratio (CMO:0000914)33142640370668733Rat
12879868Am6Aortic mass QTL 60.001aorta mass (VT:0002845)aorta weight to aorta length to body weight ratio (CMO:0002722)33142640370668733Rat
2301400Cm68Cardiac mass QTL 680.001heart mass (VT:0007028)heart wet weight to body weight ratio (CMO:0002408)33142640370668733Rat
1300169Bp177Blood pressure QTL 1772.96arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)33370334761017857Rat
1354589Bw31Body weight QTL 313.3body mass (VT:0001259)body weight (CMO:0000012)33370334778196190Rat
1354604Bw36Body weight QTL 362.9body mass (VT:0001259)body weight (CMO:0000012)333703347104104347Rat

Markers in Region
AI314967  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2334,708,811 - 34,709,040 (+)MAPPERmRatBN7.2
Rnor_6.0335,783,674 - 35,783,902NCBIRnor6.0
Rnor_5.0340,897,452 - 40,897,680UniSTSRnor5.0
RGSC_v3.4331,224,295 - 31,224,523UniSTSRGSC3.4
Celera332,888,024 - 32,888,253UniSTS
Cytogenetic Map3q12UniSTS
RH142327  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2334,708,887 - 34,709,079 (+)MAPPERmRatBN7.2
Rnor_6.0335,783,750 - 35,783,941NCBIRnor6.0
Rnor_5.0340,897,528 - 40,897,719UniSTSRnor5.0
RGSC_v3.4331,224,371 - 31,224,562UniSTSRGSC3.4
Celera332,888,100 - 32,888,291UniSTS
RH 3.4 Map3415.4UniSTS
Cytogenetic Map3q12UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 3 43 57 41 19 41 8 11 74 35 41 11 8
Low
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENSRNOT00000066058   ⟹   ENSRNOP00000058814
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl334,708,650 - 34,726,771 (-)Ensembl
Rnor_6.0 Ensembl335,783,623 - 35,801,614 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000083776   ⟹   ENSRNOP00000072504
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl334,708,649 - 34,722,941 (-)Ensembl
Rnor_6.0 Ensembl335,783,822 - 35,797,804 (-)Ensembl
RefSeq Acc Id: NM_001004280   ⟹   NP_001004280
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2334,708,649 - 34,726,548 (-)NCBI
Rnor_6.0335,783,511 - 35,801,407 (-)NCBI
Rnor_5.0340,897,289 - 40,915,271 (-)NCBI
RGSC_v3.4331,224,132 - 31,242,473 (-)RGD
Celera332,887,861 - 32,905,961 (-)RGD
Sequence:
RefSeq Acc Id: XM_006234158   ⟹   XP_006234220
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2334,708,649 - 34,726,554 (-)NCBI
Rnor_6.0335,783,511 - 35,801,474 (-)NCBI
Rnor_5.0340,897,289 - 40,915,271 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001004280   ⟸   NM_001004280
- Peptide Label: precursor
- UniProtKB: Q6AYQ6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006234220   ⟸   XM_006234158
- Peptide Label: isoform X1
- UniProtKB: Q6AYQ6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSRNOP00000058814   ⟸   ENSRNOT00000066058
RefSeq Acc Id: ENSRNOP00000072504   ⟸   ENSRNOT00000083776

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6AYQ6-F1-model_v2 AlphaFold Q6AYQ6 1-296 view protein structure

Transcriptome

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

Promoters
RGD ID:13692071
Promoter ID:EPDNEW_R2596
Type:multiple initiation site
Name:Mmadhc_1
Description:methylmalonic aciduria and homocystinuria, cblD type
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_6.0335,801,394 - 35,801,454EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1303272 AgrOrtholog
BioCyc Gene G2FUF-49752 BioCyc
Ensembl Genes ENSRNOG00000004740 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSRNOP00000058814.2 UniProtKB/TrEMBL
  ENSRNOP00000072504 ENTREZGENE
  ENSRNOP00000072504.2 UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000066058.3 UniProtKB/TrEMBL
  ENSRNOT00000083776 ENTREZGENE
  ENSRNOT00000083776.2 UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7110154 IMAGE-MGC_LOAD
InterPro MMADHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:362134 UniProtKB/Swiss-Prot
MGC_CLONE MGC:93805 IMAGE-MGC_LOAD
NCBI Gene 362134 ENTREZGENE
PANTHER PTHR13192 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MMADHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Mmadhc PhenoGen
UniProt A0A0G2K352_RAT UniProtKB/TrEMBL
  A0A8L2QRQ4_RAT UniProtKB/TrEMBL
  MMAD_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-15 Mmadhc  metabolism of cobalamin associated D  Mmadhc  methylmalonic aciduria and homocystinuria, cblD type  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2016-01-13 Mmadhc  methylmalonic aciduria and homocystinuria, cblD type  Mmadhc  methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2009-06-12 Mmadhc  methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria  RGD1303272  similar to RIKEN cDNA 2010311D03  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-11-17 RGD1303272  similar to RIKEN cDNA 2010311D03  MGC93805    Symbol updated 1299863 APPROVED
2005-09-30 MGC93805        Symbol and Name status set to provisional 70820 PROVISIONAL