UniProtKB - Q6NVY1 (HIBCH_HUMAN)
3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
HIBCH
Functioni
Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA.
1 PublicationCatalytic activityi
- EC:3.1.2.41 Publication
: L-valine degradation Pathwayi
This protein is involved in the pathway L-valine degradation, which is part of Amino-acid degradation.View all proteins of this organism that are known to be involved in the pathway L-valine degradation and in Amino-acid degradation.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 121 | Substrate | 1 | |
Binding sitei | 146 | Substrate; via amide nitrogen | 1 | |
Binding sitei | 169 | Substrate | 1 | |
Binding sitei | 177 | Substrate | 1 |
GO - Molecular functioni
- 3-hydroxyisobutyryl-CoA hydrolase activity Source: UniProtKB
GO - Biological processi
- branched-chain amino acid catabolic process Source: Reactome
- valine catabolic process Source: GO_Central
Keywordsi
Molecular function | Hydrolase |
Biological process | Branched-chain amino acid catabolism |
Enzyme and pathway databases
BRENDAi | 3.1.2.4, 2681 |
PathwayCommonsi | Q6NVY1 |
Reactomei | R-HSA-70895, Branched-chain amino acid catabolism |
SABIO-RKi | Q6NVY1 |
SignaLinki | Q6NVY1 |
UniPathwayi | UPA00362 |
Names & Taxonomyi
Protein namesi | Recommended name: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial (EC:3.1.2.4)Alternative name(s): 3-hydroxyisobutyryl-coenzyme A hydrolase Short name: HIB-CoA hydrolase Short name: HIBYL-CoA-H |
Gene namesi | Name:HIBCH |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4908, HIBCH |
MIMi | 610690, gene |
neXtProti | NX_Q6NVY1 |
VEuPathDBi | HostDB:ENSG00000198130 |
Subcellular locationi
Mitochondrion
- Mitochondrion By similarity
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: HPA
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031870 | 122 | Y → C in HIBCHD. 1 PublicationCorresponds to variant dbSNP:rs121918329EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 26275 |
MalaCardsi | HIBCH |
MIMi | 250620, phenotype |
OpenTargetsi | ENSG00000198130 |
Orphaneti | 88639, Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency |
PharmGKBi | PA29281 |
Miscellaneous databases
Pharosi | Q6NVY1, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3817723 |
DrugBanki | DB04216, Quercetin |
Genetic variation databases
BioMutai | HIBCH |
DMDMi | 146324905 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 32 | MitochondrionBy similarityAdd BLAST | 32 | |
ChainiPRO_0000284929 | 33 – 386 | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrialAdd BLAST | 354 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 55 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 55 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 92 | N6-acetyllysine; alternateCombined sources | 1 | |
Modified residuei | 92 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 221 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 221 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 234 | PhosphoserineCombined sources | 1 | |
Modified residuei | 257 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 297 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 297 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 301 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 353 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 353 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 356 | PhosphoserineCombined sources | 1 | |
Modified residuei | 360 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 365 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 377 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q6NVY1 |
jPOSTi | Q6NVY1 |
MassIVEi | Q6NVY1 |
MaxQBi | Q6NVY1 |
PaxDbi | Q6NVY1 |
PeptideAtlasi | Q6NVY1 |
PRIDEi | Q6NVY1 |
ProteomicsDBi | 66734 [Q6NVY1-1] 66735 [Q6NVY1-2] |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00419802 |
PTM databases
GlyGeni | Q6NVY1, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q6NVY1 |
MetOSitei | Q6NVY1 |
PhosphoSitePlusi | Q6NVY1 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000198130, Expressed in corpus callosum and 249 other tissues |
ExpressionAtlasi | Q6NVY1, baseline and differential |
Genevisiblei | Q6NVY1, HS |
Organism-specific databases
HPAi | ENSG00000198130, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 117658, 62 interactors |
IntActi | Q6NVY1, 12 interactors |
STRINGi | 9606.ENSP00000352706 |
Miscellaneous databases
RNActi | Q6NVY1, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q6NVY1 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q6NVY1 |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG1684, Eukaryota |
GeneTreei | ENSGT00890000139491 |
HOGENOMi | CLU_009834_22_1_1 |
InParanoidi | Q6NVY1 |
OMAi | IATHYLH |
PhylomeDBi | Q6NVY1 |
TreeFami | TF314329 |
Family and domain databases
InterProi | View protein in InterPro IPR029045, ClpP/crotonase-like_dom_sf IPR045004, ECH_dom IPR032259, HIBYL-CoA-H |
PANTHERi | PTHR43176, PTHR43176, 1 hit |
Pfami | View protein in Pfam PF16113, ECH_2, 1 hit |
SUPFAMi | SSF52096, SSF52096, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGQREMWRLM SRFNAFKRTN TILHHLRMSK HTDAAEEVLL EKKGCTGVIT
60 70 80 90 100
LNRPKFLNAL TLNMIRQIYP QLKKWEQDPE TFLIIIKGAG GKAFCAGGDI
110 120 130 140 150
RVISEAEKAK QKIAPVFFRE EYMLNNAVGS CQKPYVALIH GITMGGGVGL
160 170 180 190 200
SVHGQFRVAT EKCLFAMPET AIGLFPDVGG GYFLPRLQGK LGYFLALTGF
210 220 230 240 250
RLKGRDVYRA GIATHFVDSE KLAMLEEDLL ALKSPSKENI ASVLENYHTE
260 270 280 290 300
SKIDRDKSFI LEEHMDKINS CFSANTVEEI IENLQQDGSS FALEQLKVIN
310 320 330 340 350
KMSPTSLKIT LRQLMEGSSK TLQEVLTMEY RLSQACMRGH DFHEGVRAVL
360 370 380
IDKDQSPKWK PADLKEVTEE DLNNHFKSLG SSDLKF
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB8ZZZ0 | B8ZZZ0_HUMAN | 3-hydroxyisobutyryl-CoA hydrolase, ... | HIBCH | 273 | Annotation score: | ||
B9A058 | B9A058_HUMAN | 3-hydroxyisobutyryl-CoA hydrolase, ... | HIBCH | 163 | Annotation score: | ||
H7C1A5 | H7C1A5_HUMAN | 3-hydroxyisobutyryl-CoA hydrolase, ... | HIBCH | 119 | Annotation score: | ||
F8W8A6 | F8W8A6_HUMAN | 3-hydroxyisobutyryl-CoA hydrolase, ... | HIBCH | 128 | Annotation score: | ||
H7C400 | H7C400_HUMAN | 3-hydroxyisobutyryl-CoA hydrolase, ... | HIBCH | 52 | Annotation score: | ||
H7BYI7 | H7BYI7_HUMAN | 3-hydroxyisobutyryl-CoA hydrolase, ... | HIBCH | 69 | Annotation score: | ||
H7C126 | H7C126_HUMAN | 3-hydroxyisobutyryl-CoA hydrolase, ... | HIBCH | 38 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 41 | E → G in AAH67822 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 83 | L → V in AAC52114 (PubMed:8824301).Curated | 1 | |
Sequence conflicti | 111 | Q → R in BAD96699 (Ref. 2) Curated | 1 | |
Sequence conflicti | 184 – 198 | LPRLQ…FLALT → FATTPRKTWLLPCIN in AAC52114 (PubMed:8824301).CuratedAdd BLAST | 15 | |
Sequence conflicti | 369 | E → K in BAD96699 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031869 | 46 | T → A3 PublicationsCorresponds to variant dbSNP:rs1058180EnsemblClinVar. | 1 | |
Natural variantiVAR_031870 | 122 | Y → C in HIBCHD. 1 PublicationCorresponds to variant dbSNP:rs121918329EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_024780 | 338 – 385 | Missing in isoform 2. CuratedAdd BLAST | 48 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U66669 mRNA Translation: AAC52114.1 Different initiation. AK222979 mRNA Translation: BAD96699.1 Different initiation. AK223023 mRNA Translation: BAD96743.1 Different initiation. AC092178 Genomic DNA Translation: AAY24178.1 Different initiation. AC010679 Genomic DNA Translation: AAX93234.1 CH471058 Genomic DNA Translation: EAX10873.1 CH471058 Genomic DNA Translation: EAX10875.1 BC005190 mRNA Translation: AAH05190.2 Different initiation. BC067822 mRNA Translation: AAH67822.1 |
CCDSi | CCDS2304.1 [Q6NVY1-1] CCDS46475.1 [Q6NVY1-2] |
RefSeqi | NP_055177.2, NM_014362.3 [Q6NVY1-1] NP_932164.1, NM_198047.2 [Q6NVY1-2] XP_011509255.1, XM_011510953.1 [Q6NVY1-1] |
Genome annotation databases
Ensembli | ENST00000359678; ENSP00000352706; ENSG00000198130 ENST00000392332; ENSP00000376144; ENSG00000198130 [Q6NVY1-2] |
GeneIDi | 26275 |
KEGGi | hsa:26275 |
MANE-Selecti | ENST00000359678.10; ENSP00000352706.5; NM_014362.4; NP_055177.2 |
UCSCi | uc002uru.3, human [Q6NVY1-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U66669 mRNA Translation: AAC52114.1 Different initiation. AK222979 mRNA Translation: BAD96699.1 Different initiation. AK223023 mRNA Translation: BAD96743.1 Different initiation. AC092178 Genomic DNA Translation: AAY24178.1 Different initiation. AC010679 Genomic DNA Translation: AAX93234.1 CH471058 Genomic DNA Translation: EAX10873.1 CH471058 Genomic DNA Translation: EAX10875.1 BC005190 mRNA Translation: AAH05190.2 Different initiation. BC067822 mRNA Translation: AAH67822.1 |
CCDSi | CCDS2304.1 [Q6NVY1-1] CCDS46475.1 [Q6NVY1-2] |
RefSeqi | NP_055177.2, NM_014362.3 [Q6NVY1-1] NP_932164.1, NM_198047.2 [Q6NVY1-2] XP_011509255.1, XM_011510953.1 [Q6NVY1-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3BPT | X-ray | 1.50 | A | 32-386 | [»] | |
SMRi | Q6NVY1 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 117658, 62 interactors |
IntActi | Q6NVY1, 12 interactors |
STRINGi | 9606.ENSP00000352706 |
Chemistry databases
ChEMBLi | CHEMBL3817723 |
DrugBanki | DB04216, Quercetin |
PTM databases
GlyGeni | Q6NVY1, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q6NVY1 |
MetOSitei | Q6NVY1 |
PhosphoSitePlusi | Q6NVY1 |
Genetic variation databases
BioMutai | HIBCH |
DMDMi | 146324905 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00419802 |
Proteomic databases
EPDi | Q6NVY1 |
jPOSTi | Q6NVY1 |
MassIVEi | Q6NVY1 |
MaxQBi | Q6NVY1 |
PaxDbi | Q6NVY1 |
PeptideAtlasi | Q6NVY1 |
PRIDEi | Q6NVY1 |
ProteomicsDBi | 66734 [Q6NVY1-1] 66735 [Q6NVY1-2] |
Protocols and materials databases
Antibodypediai | 34034, 276 antibodies from 27 providers |
DNASUi | 26275 |
Genome annotation databases
Ensembli | ENST00000359678; ENSP00000352706; ENSG00000198130 ENST00000392332; ENSP00000376144; ENSG00000198130 [Q6NVY1-2] |
GeneIDi | 26275 |
KEGGi | hsa:26275 |
MANE-Selecti | ENST00000359678.10; ENSP00000352706.5; NM_014362.4; NP_055177.2 |
UCSCi | uc002uru.3, human [Q6NVY1-1] |
Organism-specific databases
CTDi | 26275 |
DisGeNETi | 26275 |
GeneCardsi | HIBCH |
HGNCi | HGNC:4908, HIBCH |
HPAi | ENSG00000198130, Low tissue specificity |
MalaCardsi | HIBCH |
MIMi | 250620, phenotype 610690, gene |
neXtProti | NX_Q6NVY1 |
OpenTargetsi | ENSG00000198130 |
Orphaneti | 88639, Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency |
PharmGKBi | PA29281 |
VEuPathDBi | HostDB:ENSG00000198130 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1684, Eukaryota |
GeneTreei | ENSGT00890000139491 |
HOGENOMi | CLU_009834_22_1_1 |
InParanoidi | Q6NVY1 |
OMAi | IATHYLH |
PhylomeDBi | Q6NVY1 |
TreeFami | TF314329 |
Enzyme and pathway databases
UniPathwayi | UPA00362 |
BRENDAi | 3.1.2.4, 2681 |
PathwayCommonsi | Q6NVY1 |
Reactomei | R-HSA-70895, Branched-chain amino acid catabolism |
SABIO-RKi | Q6NVY1 |
SignaLinki | Q6NVY1 |
Miscellaneous databases
BioGRID-ORCSi | 26275, 37 hits in 1048 CRISPR screens |
ChiTaRSi | HIBCH, human |
EvolutionaryTracei | Q6NVY1 |
GenomeRNAii | 26275 |
Pharosi | Q6NVY1, Tbio |
PROi | PR:Q6NVY1 |
RNActi | Q6NVY1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198130, Expressed in corpus callosum and 249 other tissues |
ExpressionAtlasi | Q6NVY1, baseline and differential |
Genevisiblei | Q6NVY1, HS |
Family and domain databases
InterProi | View protein in InterPro IPR029045, ClpP/crotonase-like_dom_sf IPR045004, ECH_dom IPR032259, HIBYL-CoA-H |
PANTHERi | PTHR43176, PTHR43176, 1 hit |
Pfami | View protein in Pfam PF16113, ECH_2, 1 hit |
SUPFAMi | SSF52096, SSF52096, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | HIBCH_HUMAN | |
Accessioni | Q6NVY1Primary (citable) accession number: Q6NVY1 Secondary accession number(s): D3DPI4 Q9BS94 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 1, 2007 |
Last sequence update: | May 1, 2007 | |
Last modified: | February 23, 2022 | |
This is version 148 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families