MMACHC (metabolism of cobalamin associated C)

Gene: MMACHC (metabolism of cobalamin associated C) Pan paniscus

Analyze

Symbol:

MMACHC

Name:

metabolism of cobalamin associated C

RGD ID:

11676314

Description:

ENCODES a protein that exhibits cobalamin binding (inferred); cyanocobalamin reductase (cyanide-eliminating) activity (inferred); demethylase activity (inferred); INVOLVED IN cobalamin metabolic process (inferred); demethylation (inferred); glutathione metabolic process (inferred); ASSOCIATED WITH atypical hemolytic-uremic syndrome (ortholog); Charcot-Marie-Tooth disease dominant intermediate C (ortholog); developmental and epileptic encephalopathy (ortholog); FOUND IN cytosol (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

cyanocobalamin reductase / alkylcobalamin dealkylase; methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly

Position:

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	181,295,944 - 181,308,711 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	180,437,231 - 180,450,202 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	44,802,724 - 44,811,893 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	46,160,364 - 46,171,672 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	46,160,364 - 46,171,662 (+)	Ensembl	panpan1.1		panPan2

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

atypical hemolytic-uremic syndrome (ISO)

Charcot-Marie-Tooth disease dominant intermediate C (ISO)

developmental and epileptic encephalopathy (ISO)

early infantile epileptic encephalopathy (ISO)

fundus dystrophy (ISO)

genetic disease (ISO)

homocystinuria (ISO)

inherited metabolic disorder (ISO)

methylmalonic acidemia (ISO)

methylmalonic aciduria and homocystinuria type cblC (ISO)

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cobalamin metabolic process (IEA)

demethylation (IEA)

glutathione metabolic process (IEA)

Cellular Component

cytoplasm (IEA)

cytosol (IEA,ISO)

Molecular Function

cobalamin binding (IEA)

cyanocobalamin reductase (cyanide-eliminating) activity (IEA)

demethylase activity (IEA)

FAD binding (IEA)

glutathione binding (IEA)

oxidoreductase activity (IEA)

protein binding (ISO)

protein homodimerization activity (IEA)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

MMACHC
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	181,295,944 - 181,308,711 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	180,437,231 - 180,450,202 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	44,802,724 - 44,811,893 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	46,160,364 - 46,171,672 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	46,160,364 - 46,171,662 (+)	Ensembl	panpan1.1		panPan2

MMACHC
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	45,500,300 - 45,513,382 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	45,500,300 - 45,513,382 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	45,965,972 - 45,979,054 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	45,738,443 - 45,749,326 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	44,249,947 - 44,260,829 (+)	NCBI		Celera
Cytogenetic Map	1	p34.1	NCBI
HuRef	1	44,077,989 - 44,088,405 (+)	NCBI		HuRef
CHM1_1	1	46,083,117 - 46,094,004 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	45,372,667 - 45,385,751 (+)	NCBI		T2T-CHM13v2.0

Mmachc
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	116,559,631 - 116,565,582 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	116,559,476 - 116,565,603 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	116,702,434 - 116,708,385 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	116,702,279 - 116,708,406 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	116,375,039 - 116,380,990 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	116,200,367 - 116,206,253 (-)	NCBI		MGSCv36	mm8
Celera	4	115,436,428 - 115,442,379 (-)	NCBI		Celera
Cytogenetic Map	4	D1	NCBI
cM Map	4	53.29	NCBI

Mmachc
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	135,403,094 - 135,409,285 (-)	NCBI		GRCr8
mRatBN7.2	5	130,166,056 - 130,172,735 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	130,166,451 - 130,172,601 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	132,792,463 - 132,798,604 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	134,547,064 - 134,553,205 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	134,569,472 - 134,575,613 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	135,555,587 - 135,561,723 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	135,555,565 - 135,561,914 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	139,351,762 - 139,357,898 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	136,995,231 - 137,001,367 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	137,001,103 - 137,006,588 (-)	NCBI
Celera	5	128,693,619 - 128,699,745 (-)	NCBI		Celera
Cytogenetic Map	5	q35	NCBI

Mmachc
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955464	12,772,420 - 12,780,612 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955464	12,774,018 - 12,780,612 (-)	NCBI	ChiLan1.0	ChiLan1.0

MMACHC
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	14,857,236 - 14,863,211 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	14,857,231 - 14,863,113 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	14,978,374 - 14,984,360 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	15,012,610 - 15,018,557 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	15,012,957 - 15,018,719 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	14,809,847 - 14,815,842 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	14,877,398 - 14,883,398 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	14,949,428 - 14,955,416 (-)	NCBI		UU_Cfam_GSD_1.0

Mmachc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	60,803,821 - 60,816,704 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	26,636,245 - 26,641,486 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	26,636,277 - 26,641,486 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MMACHC
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	165,860,785 - 165,865,642 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	165,860,888 - 165,865,674 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	153,266,917 - 153,271,703 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MMACHC
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	87,279,028 - 87,289,444 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	87,279,254 - 87,289,490 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	29,672,896 - 29,682,539 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mmachc
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624906	1,398,724 - 1,409,311 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624906	1,398,666 - 1,404,709 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_003812792	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024929459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JARIFH020000001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSPPAT00000062968 ⟹ ENSPPAP00000040055

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	1	46,160,364 - 46,171,662 (+)	Ensembl

RefSeq Acc Id:

XM_003812792 ⟹ XP_003812840

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
NHGRI_mPanPan1-v2	1	181,295,944 - 181,308,711 (-)	NCBI
NHGRI_mPanPan1	1	180,437,231 - 180,450,202 (-)	NCBI
Mhudiblu_PPA_v0	1	44,802,724 - 44,811,893 (+)	NCBI
PanPan1.1	1	46,160,364 - 46,171,672 (+)	NCBI

Sequence:

show sequence

GGCGATGGAGGCGGTGGAACTACCTTTCTCTAGAAGAGACACGTACATGCACACCCCCACCGTG
TAGCTTGCCGGGAAACTGAGTCTTCCCGATTTCGTGTGGCTGTCTCCAAGGAGGAAACGAACTA
CGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGG
GAAATGGAGTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAG
CAAGCTCAGCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGG
ACACGCTATGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGTGGCATGGTACAATGAACTCTT
GCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCT
GCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACC
CAGTGGACCAGTGTGTGGCCTACCATCTGGGCCATGTTAGAGAGAGCCTCCCAGAGCTGCAGAT
AGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCA
GCCCATGTGGCAGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGA
ACCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGT
AGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCT
ACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACC
GGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCGCC
TGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCG
GACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGC
TCAGCCCCAGGGTCTCACCACCTGCCTCCCCTGGCCCTTGATACCTTTCTCCCATGTAGACCCT
GATTTACGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAG
ATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGGTAACAAGGCTCAAGGAAGTTAGG
TTTGGCCAAGATAAAGGCCAGGGAACCAAAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTT
TTTTTTAGACAAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCAGTCTCTACTCACTG
CAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGTCAG
GTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTG
GCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAAGTCCTGGG
ATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTGCCC
CAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTAGCAGCAGGGTGTG
GTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTT
TGAGACCAGCCTGGCCAATACGGTGAAACCCCGTCTCTACTAAAAATGCAGTTAGCCGGGCATG
GTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGG
AGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGAC
TCTGTCTACAAAAAAAAAAAAAAAAAAAGTAACCTACCTCAGGTAGGGACTGAATAAACACGTG
TAAGGCACTTTGGAAAAATACCTGGCATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCC
GGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGAAGC
TGAGGAAGACAAGTGGCTGGAATGGCATCACATGATACACAGAAGTATCCTCAGTTCTGAATCT
ACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGA
CATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACTTGTAATCCCACCA
TTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATA
ATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAG
TACTGTGCAACTACTGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCA
GTTCAAAAGGAACACAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAG
GCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAG
TAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAAC
ACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCA
TTCAGTTCCATTCCCTATGTCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCT
CATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATG
CTTCCTAAAATAAAGACTCATCAAGGTCTCAGTTCAAGTTTAATACAAACTACAAAAGATTAAT
GGGTTGCTCTACTAATACATCATACAAACCAGTAGCCTGCCCACAACGCCAACTCAGGCCATTC
CTACCAAAGGAAGAAAGGCTGGTCTCTCCACCCCCTGTAGAAAAGGCCTGCCTTGTAAGACACC
ACAATTCGGCTGAATCTGAAGTCTTGTGTTTTACTAATGGAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_024929459 ⟹ XP_024785227

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
NHGRI_mPanPan1-v2	1	181,297,924 - 181,308,686 (-)	NCBI
NHGRI_mPanPan1	1	180,439,412 - 180,450,177 (-)	NCBI
Mhudiblu_PPA_v0	1	44,802,749 - 44,811,893 (+)	NCBI
PanPan1.1	1	46,160,500 - 46,171,672 (+)	NCBI

Sequence:

show sequence

AAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGA
GTCGAAGCTGACTCAAAACGTAACGGCCCAATTGTCCTTGAGACTTCATTCCCCAGCAAGCTCA
GCGTGTAACGTGCGCTATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTA
TGTCCTTTTGGCTTCGAGGTTTACCCCTTCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTG
GCCCGAATTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACC
GCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTC
AAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCT
ACCATCTGGGCCATGTTAGAGAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGA
GGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTGGCAGGGGCTGCT
TACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGCGCATATCAGGTGTGT
GCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGA
GGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCC
CTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGG
AGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCGCCTGCCCAACGATTGGCCCTATT
GGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCC
GCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCAC
CTGCCTCCCCTGGCCCTTGATACCTTTCTCCCATGTAGACCCTGATTTACGGTGGTACTTGCTA
GGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATA
GTAGAGATCTTCCATGAAGGTAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAG
GGAACCAAAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTTAGACAAGAGTCTTAC
TCTGTCACCTAGGCTGGAGTGCAGTGGCAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTC
AAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGTCAGGTGCCTGCCACTACACCTGGC
TAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCC
TGACCTCGTGATCCACCCATCTTGGCCTCCCAAAAGTCCTGGGATTACAGGAATGAGCCACCGC
ACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTGCCCCAAGATGTTGTTACAGGGCCT
AAGGGGCAAATATCCTCTAAAGAGTACCTAGCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCC
AGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATAC
GGTGAAACCCCGTCTCTACTAAAAATGCAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCC
AGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCC
GAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTACAAAAAAAAAAAA
AAAAAAAGTAACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATAC
CTGGCATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCCGGGAATTCTGTACTGCTGCTC
ATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGAAGCTGAGGAAGACAAGTGGCTGGA
ATGGCATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAG
GAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAAC
GAGCTTTGGCCAGGCACTGTGGCGCTCACTTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAG
GACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATC
TCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACTGAAAGC
CCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAGGAACACAAACCT
CCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATG
CAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAAC
TGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTT
CTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATGTC
TACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAA
AGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTCAT
CAAGGTCTCAGTTCAAGTTTAATACAAACTACAAAAGATTAATGGGTTGCTCTACTAATACATC
ATACAAACCAGTAGCCTGCCCACAACGCCAACTCAGGCCATTCCTACCAAAGGAAGAAAGGCTG
GTCTCTCCACCCCCTGTAGAAAAGGCCTGCCTTGTAAGACACCACAATTCGGCTGAATCTGAAG
TCTTGTGTTTTACTAATGGAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_003812840	(Get FASTA)	NCBI Sequence Viewer
	XP_024785227	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSPPAP00000040055.1

RefSeq Acc Id:	XP_003812840 ⟸ XM_003812792
- Peptide Label:	isoform X1
- UniProtKB:	A0A2R9CDN8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALK PFLQSCHLRMLTDPVDQCVAYHLGHVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAY YYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIAL LEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPA PKKPGNPSRARSWLSPRVSPPASPGP hide sequence

RefSeq Acc Id:

XP_024785227 ⟸ XM_024929459

- Peptide Label:

isoform X2

- Sequence:

show sequence

MFDRALKPFLQSCHLRMLTDPVDQCVAYHLGHVRESLPELQIEIIADYEVHPNRRPKILAQTAA
HVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPT
RADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPD
LPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP

hide sequence

RefSeq Acc Id:

ENSPPAP00000040055 ⟸ ENSPPAT00000062968

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSPPAG00000042689	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSPPAT00000062968.1	UniProtKB/TrEMBL
InterPro	MMACHC	UniProtKB/TrEMBL
KEGG Report	pps:100968335	UniProtKB/TrEMBL
NCBI Gene	MMACHC	ENTREZGENE
PANTHER	CYANOCOBALAMIN REDUCTASE / ALKYLCOBALAMIN DEALKYLASE	UniProtKB/TrEMBL
	PTHR31457	UniProtKB/TrEMBL
Pfam	MMACHC	UniProtKB/TrEMBL
UniProt	A0A2R9CDN8	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-08-07	MMACHC	metabolism of cobalamin associated C		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM