C163SF HIBCH [mitochondrial matrix]

Stable Identifier
R-HSA-9916912
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
3-hydroxyisobutyryl-coenzyme A hydrolase
Icon
C163SF HIBCH [mitochondrial matrix] icon
C163SF HIBCH [mitochondrial matrix] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
32022391 A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

Yu, TW, Shi, J, Grant, PE, D'Gama, AM, Zhang, T, Juusola, J, Ferdinandusse, S, Genetti, CA, Agrawal, PB, Brucker, WJ, Kritzer, A, VanNoy, G, Gubbels, CS

Am J Med Genet A 2020
External Reference Information
External Reference
UniProt:Q6NVY1 HIBCH
Gene Names
HIBCH
Chain
transit peptide:1-32, chain:33-386
Reference Genes
BioGPS Gene:26275 HIBCH
COSMIC (genes):HIBCH HIBCH
CTD Gene:26275 HIBCH
dbSNP Gene:26275 HIBCH
ENSEMBL:ENSG00000198130 HIBCH
HGNC:4908 HIBCH
KEGG:hsa:26275 HIBCH
Monarch:26275 HIBCH
NCBI Gene:26275 HIBCH
OMIM:610690 HIBCH
UCSC:Q6NVY1 HIBCH
Reference Transcript
Other Identifiers
11742779_a_at
16906477
203711_PM_s_at
203711_s_at
213374_PM_x_at
213374_x_at
2592013
2592014
2592022
2592023
2592024
2592025
2592026
2592027
2592028
2592029
2592030
2592032
2592033
2592039
2592040
2592041
2592046
2592047
2592048
2592050
2592052
2592053
2592054
2592055
2592058
2592060
2592061
2592063
2592065
2592066
2592068
2592069
2592075
2592076
26275
2846564
2846566
34696_at
62320_at
73209_f_at
75216_f_at
8057719
A_23_P154345
A_23_P154349
A_33_P3366484
GE61017
GE85128
GO:0003824
GO:0003860
GO:0005739
GO:0005759
GO:0006520
GO:0006574
GO:0009083
GO:0016491
GO:0016787
GO:0043226
HMNXSV003008196
ILMN_1656977
PH_hs_0029465
PH_hs_0036422
TC02002619.hg
U66669_at
g7657159_3p_a_at
Participates
as a member of
Other forms of this molecule
G317E HIBCH [mitochondrial matrix]
K377* HIBCH [mitochondrial matrix]
Y122C HIBCH [mitochondrial matrix]
G345S HIBCH [mitochondrial matrix]
HIBCH [mitochondrial matrix]
Modified Residues
Name
L-cysteine 163 replaced with L-phenylalanine
Coordinate
163
PsiMod
L-phenylalanine residue [MOD:00023]
A protein modification that effectively converts a source amino acid residue to L-phenylalanine.
L-cysteine removal [MOD:01635]
A protein modification that effectively removes or replaces an L-cysteine.
Disease
Name Identifier Synonyms
3-hydroxyisobutryl-CoA hydrolase deficiency DOID:0060949 Methacrylic aciduria, Valine metabolic defect, HIBCH deficiency
Cross References
RefSeq
ClinGen
ENSEMBL
OpenTargets
GeneCards
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
PDB
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