D532H Btn-MCCC1 [mitochondrial matrix]

Stable Identifier
R-HSA-9908652
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
methylcrotonyl-CoA carboxylase alpha chain
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
11181649 The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Baumgartner, MR, Almashanu, S, Suormala, T, Obie, C, Cole, RN, Packman, S, Baumgartner, ER, Valle, D

J Clin Invest 2001
22642865 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

Grünert, SC, Stucki, M, Morscher, RJ, Suormala, T, Bürer, C, Burda, P, Christensen, E, Ficicioglu, C, Herwig, J, Kölker, S, Möslinger, D, Pasquini, E, Santer, R, Schwab, KO, Wilcken, B, Fowler, B, Yue, WW, Baumgartner, MR

Orphanet J Rare Dis 2012
External Reference Information
External Reference
UniProt:Q96RQ3 MCCC1
Gene Names
MCCC1, MCCA
Chain
transit peptide:1-41, chain:42-725
Reference Genes
BioGPS Gene:56922 MCCC1
COSMIC - genes:MCCC1 MCCC1
CTD Gene:56922 MCCC1
dbSNP Gene:56922 MCCC1
ENSEMBL:ENSG00000078070 MCCC1
HGNC:6936 MCCC1
KEGG:hsa:56922 MCCC1
Monarch:56922 MCCC1
NCBI Gene:56922 MCCC1
OMIM:609010 MCCC1
UCSC:Q96RQ3 MCCC1
Reference Transcript
Other Identifiers
11747553_a_at
11752552_a_at
11754306_a_at
16961989
218440_PM_at
218440_at
2707823
2707825
2707826
2707827
2707829
2707830
2707831
2707832
2707833
2707834
2707836
2707839
2707844
2707847
2707848
2707849
2707851
2707853
2707854
2707858
2707859
2707860
2707864
2707865
2707867
2707868
2707869
2707870
2707871
2707873
45026_s_at
52542_at
56922
8092328
83780_r_at
A_23_P58036
GE62612
GE785960
GO:0000166
GO:0004075
GO:0004485
GO:0005515
GO:0005524
GO:0005739
GO:0005759
GO:0005829
GO:0006520
GO:0006552
GO:0006768
GO:0006790
GO:0009083
GO:0009374
GO:0016874
GO:0046872
GO:1905202
HMNXSV003017607
ILMN_1760174
PH_hs_0003377
TC03002053.hg
g13518227_3p_at
Participates
as a member of
Other forms of this molecule
Btn-MCCC1 [mitochondrial matrix]
MCCC1 [cytosol]
Btn-MCCC1 [cytosol]
R385S Btn-MCCC1 [mitochondrial matrix]
I460M Btn-MCCC1 [mitochondrial matrix]
M325R Btn-MCCC1 [mitochondrial matrix]
V694* Btn-MCCC1 [mitochondrial matrix]
L437P Btn-MCCC1 [mitochondrial matrix]
Modified Residues
Name
N6-biotinyl-L-lysine at 681
Coordinate
681
PsiMod Name
N6-biotinyl-L-lysine [MOD:00126]
PsiMod Definition
A protein modification that effectively converts an L-lysine residue to N6-biotinyl-L-lysine.
Name
L-aspartic acid 532 replaced with L-histidine
Coordinate
532
PsiMod
L-aspartic acid removal [MOD:01634]
A protein modification that effectively removes or replaces an L-aspartic acid.
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Cross References
RefSeq
ClinGen
OpenTargets
ENSEMBL
Mondo
PRO
GlyGen
PDB
HPA
GeneCards
Pharos - Targets
Orphanet
HMDB Protein
Interactors (2)
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