Reactome | MMADHC R54* [cytosol]

MMADHC R54* [cytosol]

Stable Identifier

R-HSA-3318620

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, MMAD_HUMAN, MMADHC

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External Reference Information

External Reference

UniProt:Q9H3L0 MMADHC

Gene Names

MMADHC, C2orf25, CL25022, HSPC161, My011

Chain

transit peptide:1-38, chain:39-296

Reference Genes

BioGPS Gene:27249 MMADHC

COSMIC (genes):MMADHC MMADHC

CTD Gene:27249 MMADHC

dbSNP Gene:27249 MMADHC

ENSEMBL:ENSG00000168288 MMADHC

HGNC:25221 MMADHC

KEGG:hsa:27249 MMADHC

Monarch:27249 MMADHC

NCBI Gene:27249 MMADHC

OMIM:611935 MMADHC

UCSC:Q9H3L0 MMADHC

Reference Transcript

RefSeq:NM_015702.2 MMADHC

Other Identifiers

11722207_a_at

16903461

217883_PM_at

217883_at

2580643

2580644

2580645

2580646

2580648

2580652

2580653

2580654

2580655

2580657

2580658

2580662

2580663

2580664

2580665

2580666

2580667

27249

3369042

65896_at

8055672

A_23_P94932

GE61183

GO:0005515

GO:0005737

GO:0005739

GO:0005829

GO:0006766

GO:0009235

GO:0043226

HMNXSV003053836

ILMN_1810759

ILMN_2090558

PH_hs_0000545

TC02002415.hg

g7661547_3p_at

Participates

as a member of

MMADHC mutants [cytosol] (Homo sapiens)

Other forms of this molecule

MMADHC [cytosol]

MMADHC R250* [cytosol]

MMADHC T182N [cytosol]

MMADHC L259P [cytosol]

MMADHC Y249C [cytosol]

MMADHC Y140* [cytosol]

MMADHC S20* [cytosol]

Modified Residues

Name

Nonsense mutation at L-arginine 54

Coordinate

PsiMod

L-arginine removal [MOD:01632]

A protein modification that effectively removes or replaces an L-arginine.

Disease

Name	Identifier	Synonyms
methylmalonic aciduria and homocystinuria type cblD	DOID:0050716	Cobalamin D deficiency

Cross References

RefSeq

NP_056517.1

OpenTargets

ENSG00000168288

ENSEMBL

ENSP00000389060, ENSP00000301920, ENST00000428879, ENST00000303319

HPA

ENSG00000168288-MMADHC

PRO

Q9H3L0

Pharos - Targets

Q9H3L0

Orphanet

MMADHC

PDB

5CV0, 5CUZ, 6X8Z

Interactors (12)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
glutathione [ChEBI:16856]	5	GSH [endoplasmic reticulum membrane] (R-ALL-2239524) GSH [endoplasmic reticulum lumen] (R-ALL-158543) GSH [periplasmic space] (R-ALL-1500783) GSH [extracellular region] (R-ALL-1247892) GSH [mitochondrial matrix] (R-ALL-1655887)	0.558	2
UniProt:Q9P0N9 TBC1D7	1	TBC1D7 [cytosol] (R-HSA-8854154)	0.556	3
UniProt:Q02930-3 CREB5			0.556	5
UniProt:Q12837 POU4F2	1	POU4F2 [nucleoplasm] (R-HSA-6804414)	0.556	3
UniProt:Q9BW66 CINP			0.556	3
UniProt:Q8NCR6 SMIP6			0.527	3
UniProt:Q6P1W5 CA094			0.527	2
UniProt:Q96S79 RSLAB			0.527	2
UniProt:P23246 SFPQ	3	SFPQ [nucleoplasm] (R-HSA-3900138) p-Y-SFPQ [nucleoplasm] (R-HSA-8849461) SFPQ [cytosol] (R-HSA-9635505)	0.527	2
UniProt:O75251 NDUFS7	1	NDUFS7 [mitochondrial matrix] (R-HSA-6788521)	0.527	2
UniProt:Q9NWT8 AURKAIP1	1	AURKAIP1 [mitochondrial inner membrane] (R-HSA-5368203)	0.527	2
UniProt:Q9UL63 MKLN1	1	Muskelin [cytosol] (R-HSA-9861557)	0.508	2