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UniProtKB - Q6NVY1 (HIBCH_HUMAN)

Entry version 148 (23 Feb 2022)
Sequence version 2 (01 May 2007)
Previous versions | rss
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Protein

3-hydroxyisobutyryl-CoA hydrolase, mitochondrial

Gene

HIBCH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-valine degradation

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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei121Substrate1
Binding sitei146Substrate; via amide nitrogen1
Binding sitei169Substrate1
Binding sitei177Substrate1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processBranched-chain amino acid catabolism

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.1.2.4, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6NVY1

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-70895, Branched-chain amino acid catabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q6NVY1

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q6NVY1

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00362

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HIBCH
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4908, HIBCH

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610690, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6NVY1

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000198130

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031870122Y → C in HIBCHD. 1 PublicationCorresponds to variant dbSNP:rs121918329EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		26275

MalaCards human disease database

More...MalaCardsi		HIBCH
MIMi250620, phenotype

Open Targets

More...OpenTargetsi		ENSG00000198130

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		88639, Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29281

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6NVY1, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3817723

Drug and drug target database

More...DrugBanki		DB04216, Quercetin

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HIBCH

Domain mapping of disease mutations (DMDM)

More...DMDMi		146324905

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 32MitochondrionBy similarityAdd BLAST32
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000028492933 – 3863-hydroxyisobutyryl-CoA hydrolase, mitochondrialAdd BLAST354

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei55N6-acetyllysine; alternateBy similarity1
Modified residuei55N6-succinyllysine; alternateBy similarity1
Modified residuei92N6-acetyllysine; alternateCombined sources1
Modified residuei92N6-succinyllysine; alternateBy similarity1
Modified residuei221N6-acetyllysine; alternateBy similarity1
Modified residuei221N6-succinyllysine; alternateBy similarity1
Modified residuei234PhosphoserineCombined sources1
Modified residuei257N6-succinyllysineBy similarity1
Modified residuei297N6-acetyllysine; alternateBy similarity1
Modified residuei297N6-succinyllysine; alternateBy similarity1
Modified residuei301N6-succinyllysineBy similarity1
Modified residuei353N6-acetyllysine; alternateBy similarity1
Modified residuei353N6-succinyllysine; alternateBy similarity1
Modified residuei356PhosphoserineCombined sources1
Modified residuei360N6-acetyllysineBy similarity1
Modified residuei365N6-acetyllysineBy similarity1
Modified residuei377N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6NVY1

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6NVY1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6NVY1

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6NVY1

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q6NVY1

PeptideAtlas

More...PeptideAtlasi		Q6NVY1

PRoteomics IDEntifications database

More...PRIDEi		Q6NVY1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		66734 [Q6NVY1-1]
66735 [Q6NVY1-2]

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00419802

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q6NVY1, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6NVY1

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q6NVY1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q6NVY1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000198130, Expressed in corpus callosum and 249 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6NVY1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6NVY1, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000198130, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117658, 62 interactors

Protein interaction database and analysis system

More...IntActi		Q6NVY1, 12 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000352706

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6NVY1, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1386
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q6NVY1

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q6NVY1

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the enoyl-CoA hydratase/isomerase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1684, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00890000139491

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_009834_22_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6NVY1

Identification of Orthologs from Complete Genome Data

More...OMAi		IATHYLH

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6NVY1

TreeFam database of animal gene trees

More...TreeFami		TF314329

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029045, ClpP/crotonase-like_dom_sf
IPR045004, ECH_dom
IPR032259, HIBYL-CoA-H

The PANTHER Classification System

More...PANTHERi		PTHR43176, PTHR43176, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF16113, ECH_2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52096, SSF52096, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6NVY1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:386
Mass (Da):43,482
Last modified:May 1, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i11B0632ED1DF2FFA
GO
Isoform 2 (identifier: Q6NVY1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     338-385: Missing.

Show »
Length:338
Mass (Da):38,012
Checksum:i747FD3FC0745E844
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B8ZZZ0B8ZZZ0_HUMAN
3-hydroxyisobutyryl-CoA hydrolase, ...
HIBCH
273Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B9A058B9A058_HUMAN
3-hydroxyisobutyryl-CoA hydrolase, ...
HIBCH
163Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1A5H7C1A5_HUMAN
3-hydroxyisobutyryl-CoA hydrolase, ...
HIBCH
119Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W8A6F8W8A6_HUMAN
3-hydroxyisobutyryl-CoA hydrolase, ...
HIBCH
128Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C400H7C400_HUMAN
3-hydroxyisobutyryl-CoA hydrolase, ...
HIBCH
52Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BYI7H7BYI7_HUMAN
3-hydroxyisobutyryl-CoA hydrolase, ...
HIBCH
69Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C126H7C126_HUMAN
3-hydroxyisobutyryl-CoA hydrolase, ...
HIBCH
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC52114 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH05190 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAY24178 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAD96699 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAD96743 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti41E → G in AAH67822 (PubMed:15489334).Curated1
Sequence conflicti83L → V in AAC52114 (PubMed:8824301).Curated1
Sequence conflicti111Q → R in BAD96699 (Ref. 2) Curated1
Sequence conflicti184 – 198LPRLQ…FLALT → FATTPRKTWLLPCIN in AAC52114 (PubMed:8824301).CuratedAdd BLAST15
Sequence conflicti369E → K in BAD96699 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03186946T → A3 PublicationsCorresponds to variant dbSNP:rs1058180EnsemblClinVar.1
Natural variantiVAR_031870122Y → C in HIBCHD. 1 PublicationCorresponds to variant dbSNP:rs121918329EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_024780338 – 385Missing in isoform 2. CuratedAdd BLAST48

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2304.1 [Q6NVY1-1]
CCDS46475.1 [Q6NVY1-2]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000359678; ENSP00000352706; ENSG00000198130
ENST00000392332; ENSP00000376144; ENSG00000198130 [Q6NVY1-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26275

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26275

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000359678.10; ENSP00000352706.5; NM_014362.4; NP_055177.2

UCSC genome browser

More...UCSCi		uc002uru.3, human [Q6NVY1-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS2304.1 [Q6NVY1-1]
CCDS46475.1 [Q6NVY1-2]
RefSeqiNP_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:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3BPTX-ray1.50A32-386[»]
SMRiQ6NVY1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117658, 62 interactors
IntActiQ6NVY1, 12 interactors
STRINGi9606.ENSP00000352706

Chemistry databases

ChEMBLiCHEMBL3817723
DrugBankiDB04216, Quercetin

PTM databases

GlyGeniQ6NVY1, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ6NVY1
MetOSiteiQ6NVY1
PhosphoSitePlusiQ6NVY1

Genetic variation databases

BioMutaiHIBCH
DMDMi146324905

2D gel databases

REPRODUCTION-2DPAGEiIPI00419802

Proteomic databases

EPDiQ6NVY1
jPOSTiQ6NVY1
MassIVEiQ6NVY1
MaxQBiQ6NVY1
PaxDbiQ6NVY1
PeptideAtlasiQ6NVY1
PRIDEiQ6NVY1
ProteomicsDBi66734 [Q6NVY1-1]
66735 [Q6NVY1-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34034, 276 antibodies from 27 providers

The DNASU plasmid repository

More...DNASUi		26275

Genome annotation databases

EnsembliENST00000359678; ENSP00000352706; ENSG00000198130
ENST00000392332; ENSP00000376144; ENSG00000198130 [Q6NVY1-2]
GeneIDi26275
KEGGihsa:26275
MANE-SelectiENST00000359678.10; ENSP00000352706.5; NM_014362.4; NP_055177.2
UCSCiuc002uru.3, human [Q6NVY1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26275
DisGeNETi26275

GeneCards: human genes, protein and diseases

More...GeneCardsi		HIBCH
HGNCiHGNC:4908, HIBCH
HPAiENSG00000198130, Low tissue specificity
MalaCardsiHIBCH
MIMi250620, phenotype
610690, gene
neXtProtiNX_Q6NVY1
OpenTargetsiENSG00000198130
Orphaneti88639, Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
PharmGKBiPA29281
VEuPathDBiHostDB:ENSG00000198130

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1684, Eukaryota
GeneTreeiENSGT00890000139491
HOGENOMiCLU_009834_22_1_1
InParanoidiQ6NVY1
OMAiIATHYLH
PhylomeDBiQ6NVY1
TreeFamiTF314329

Enzyme and pathway databases

UniPathwayiUPA00362
BRENDAi3.1.2.4, 2681
PathwayCommonsiQ6NVY1
ReactomeiR-HSA-70895, Branched-chain amino acid catabolism
SABIO-RKiQ6NVY1
SignaLinkiQ6NVY1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		26275, 37 hits in 1048 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		HIBCH, human
EvolutionaryTraceiQ6NVY1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		26275
PharosiQ6NVY1, Tbio

Protein Ontology

More...PROi		PR:Q6NVY1
RNActiQ6NVY1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000198130, Expressed in corpus callosum and 249 other tissues
ExpressionAtlasiQ6NVY1, baseline and differential
GenevisibleiQ6NVY1, HS

Family and domain databases

InterProiView protein in InterPro
IPR029045, ClpP/crotonase-like_dom_sf
IPR045004, ECH_dom
IPR032259, HIBYL-CoA-H
PANTHERiPTHR43176, PTHR43176, 1 hit
PfamiView protein in Pfam
PF16113, ECH_2, 1 hit
SUPFAMiSSF52096, SSF52096, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHIBCH_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6NVY1
Secondary accession number(s): D3DPI4
, Q53GA8, Q53GF2, Q53RF7, Q53TC6, Q92931, Q9BS94
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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