MMADHC Y249C [cytosol]

Stable Identifier
R-HSA-3318584
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, MMAD_HUMAN, MMADHC
Locations in the PathwayBrowser
Expand all
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 Gene (Homo sapiens):27249 MMADHC
Monarch:27249 MMADHC
NCBI Gene:27249 MMADHC
OMIM:611935 MMADHC
UCSC:Q9H3L0 MMADHC
Reference Transcript
Other Identifiers
0001230239
11722207_a_at
16903461
217883_at
2580643
2580644
2580645
2580646
2580652
2580653
2580654
2580655
2580657
2580658
2580663
2580664
2580665
2580666
2580667
27249
3369042
37531
37532
5CUZ
5CV0
65896_at
8055672
A_23_P94932
AAD20048
AAF29125
AAG43124
AAH00932
AAH10894
AAH22859
AAH23995
AAY14891
AC110782
AF060224
AF131802
AF161510
AK313284
BAG36092
BC000932
BC010894
BC022859
BC023995
CCDS2189
CH471058
EAX11533
EAX11534
EAX11535
EAX11537
ENSG00000168288
ENSP00000301920
ENSP00000389060
ENST00000303319
ENST00000303319.9
ENST00000428879
ENST00000428879.5
EntrezGene:27249
EntrezGene:MMADHC
F8WEC0
g7661547_3p_at
GE61183
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005739
GO:0005829
GO:0008150
GO:0009058
GO:0009108
GO:0009235
GO:0043226
GO:0044281
GO:0051186
HGNC:25221
HPA037531
HPA037532
ILMN_1810759
ILMN_2090558
ILMN_3248966
IPR019362
MIM:277410
MIM:611935
MMADHC
MMADHC-201
MMADHC-203
NM_015702
NP_056517
PF10229
PH_hs_0000545
TC02002415.hg
UPI0000073FE2
Participant Of
hasMember
Other forms of this molecule
MMADHC S20* [cytosol]
MMADHC R54* [cytosol]
MMADHC Y140* [cytosol]
MMADHC L259P [cytosol]
MMADHC T182N [cytosol]
MMADHC R250* [cytosol]
MMADHC [cytosol]
Modified Residues
Name
L-tyrosine 249 replaced with L-cysteine
Coordinate
249
PsiMod
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
L-tyrosine removal [MOD:01649]
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
OpenTargets
GeneCards
PRO
Orphanet
PDB
Interactors (6)