Reactome will be unavailable due to host maintenance from Friday, April 27 at 6pm to Sunday, April 29 at 11:55pm.

During the outage, you may wish to use our mirror site at reactome.ncpsb.org.

MMADHC Y140*

Stable Identifier
R-HSA-3318633
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, MMAD_HUMAN, MMADHC
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
MMADHC, C2orf25, CL25022, HSPC161, My011
Chain
transit peptide:1-38, chain:39-296
Reference Transcript
Other Identifiers
0001230239
11722207_a_at
16903461
217883_at
2580643
2580644
2580645
2580646
2580652
2580653
2580654
2580655
2580657
2580658
2580663
2580664
2580665
2580667
27249
3369042
37531
37532
5CUZ
5CV0
65896_at
8055672
A_23_P94932
CCDS2189
ENSG00000168288
ENSP00000301920
ENSP00000389060
ENST00000303319
ENST00000428879
EntrezGene:27249
g7661547_3p_at
GE61183
GO:0005515
GO:0005737
GO:0005739
GO:0005829
GO:0009108
GO:0009235
HGNC:25221
HPA037531
HPA037532
ILMN_1810759
ILMN_2090558
ILMN_3248966
MIM:277410
MIM:611935
MMADHC
MMADHC-201
MMADHC-203
NM_015702
NP_056517
PF10229
PH_hs_0000545
TC02002415.hg
uc002txc.4
uc061oob.1
UPI0000073FE2
Participant Of
Other forms of this molecule
Modified Residues
Name
L-tyrosine 140 replaced with unknown
Coordinate
140
PsiMod HEY
A protein modification that effectively removes or replaces an L-tyrosine.
Disease
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblD 0050716 Cobalamin D deficiency
Cross References
RefSeq
GeneCards
DOCK Blaster
PRO
Orphanet
PDB
Interactors (2)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q9UL63 MKLN1      0.508 2
 UniProt:Q02930-3 CREB5      0.488 2