Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HIBCH Gene

Aliases for HIBCH Gene

  • 3-Hydroxyisobutyryl-CoA Hydrolase 2 3 5
  • 3-Hydroxyisobutyryl-Coenzyme A Hydrolase 2 3 4
  • HIB-CoA Hydrolase 3 4
  • HIBYL-CoA-H 3 4
  • EC 3.1.2.4 4 56
  • 3-Hydroxyisobutyryl-CoA Hydrolase, Mitochondrial 3
  • Testicular Tissue Protein Li 86 3
  • HIBYLCOAH 3

External Ids for HIBCH Gene

Previous GeneCards Identifiers for HIBCH Gene

  • GC02M189263
  • GC02M189772
  • GC02M191033
  • GC02M191272
  • GC02M191271
  • GC02M190894
  • GC02M190777
  • GC02M191054
  • GC02M182929

Summaries for HIBCH Gene

Entrez Gene Summary for HIBCH Gene

  • This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

GeneCards Summary for HIBCH Gene

HIBCH (3-Hydroxyisobutyryl-CoA Hydrolase) is a Protein Coding gene. Diseases associated with HIBCH include 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency and Pyruvate Dehydrogenase E1-Alpha Deficiency. Among its related pathways are Viral mRNA Translation and Metabolism. Gene Ontology (GO) annotations related to this gene include 3-hydroxyisobutyryl-CoA hydrolase activity.

UniProtKB/Swiss-Prot for HIBCH Gene

  • 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.

Additional gene information for HIBCH Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIBCH Gene

Genomics for HIBCH Gene

GeneHancer (GH) Regulatory Elements for HIBCH Gene

Promoters and enhancers for HIBCH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I190318 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 598.4 +24.5 24521 2.8 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 HIBCH NEMP2 ORMDL1 WDR75 ANKAR PMS1 INPP1 GC02M190201
GH02I190342 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 579.3 +0.4 364 2.7 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF143 ZNF207 HIBCH INPP1
GH02I190333 Enhancer 1.2 Ensembl ENCODE 50.8 +9.5 9549 3 PKNOX1 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 TCF12 RXRA SP5 HIBCH C2orf88 INPP1 GC02M190201
GH02I190355 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 20.3 -14.1 -14148 5 HDGF ELF3 ARID4B KLF5 THRB ZNF48 ETS1 ATF7 IKZF2 ZNF362 INPP1 HIBCH GC02P190361
GH02I190352 Enhancer 1.4 Ensembl ENCODE dbSUPER 20.4 -9.2 -9231 2.8 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 SP5 NFYC HIBCH INPP1 MFSD6 GC02P190361
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HIBCH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIBCH gene promoter:

Genomic Locations for HIBCH Gene

Genomic Locations for HIBCH Gene
chr2:190,189,735-190,344,193
(GRCh38/hg38)
Size:
154,459 bases
Orientation:
Minus strand
chr2:191,054,461-191,208,919
(GRCh37/hg19)

Genomic View for HIBCH Gene

Genes around HIBCH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIBCH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIBCH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIBCH Gene

Proteins for HIBCH Gene

  • Protein details for HIBCH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NVY1-HIBCH_HUMAN
    Recommended name:
    3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
    Protein Accession:
    Q6NVY1
    Secondary Accessions:
    • D3DPI4
    • Q53GA8
    • Q53GF2
    • Q53RF7
    • Q53TC6
    • Q92931
    • Q9BS94

    Protein attributes for HIBCH Gene

    Size:
    386 amino acids
    Molecular mass:
    43482 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC52114.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH05190.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAY24178.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96699.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96743.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HIBCH Gene

    Alternative splice isoforms for HIBCH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIBCH Gene

Selected DME Specific Peptides for HIBCH Gene

Q6NVY1:
  • IGLFPDVGGGYFLPRL
  • MEYRLSQACM
  • KAFCAGGD
  • LALTGFRLKG
  • KSPSKEN
  • RLKGRDV
  • EGVRAVLIDK

Post-translational modifications for HIBCH Gene

No Post-translational modifications

Domains & Families for HIBCH Gene

Gene Families for HIBCH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for HIBCH Gene

Suggested Antigen Peptide Sequences for HIBCH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6NVY1

UniProtKB/Swiss-Prot:

HIBCH_HUMAN :
  • Belongs to the enoyl-CoA hydratase/isomerase family.
Family:
  • Belongs to the enoyl-CoA hydratase/isomerase family.
genes like me logo Genes that share domains with HIBCH: view

Function for HIBCH Gene

Molecular function for HIBCH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-hydroxy-2-methylpropanoyl-CoA + H(2)O = CoA + 3-hydroxy-2-methylpropanoate.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for HIBCH Gene

Phenotypes From GWAS Catalog for HIBCH Gene

Gene Ontology (GO) - Molecular Function for HIBCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003860 3-hydroxyisobutyryl-CoA hydrolase activity IDA 8824301
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with HIBCH: view
genes like me logo Genes that share phenotypes with HIBCH: view

Human Phenotype Ontology for HIBCH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HIBCH Gene

Localization for HIBCH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIBCH Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIBCH gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HIBCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with HIBCH: view

Pathways & Interactions for HIBCH Gene

genes like me logo Genes that share pathways with HIBCH: view

UniProtKB/Swiss-Prot Q6NVY1-HIBCH_HUMAN

  • Pathway: Amino-acid degradation; L-valine degradation.

Gene Ontology (GO) - Biological Process for HIBCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006574 valine catabolic process IEA --
GO:0009083 branched-chain amino acid catabolic process TAS,IEA --
genes like me logo Genes that share ontologies with HIBCH: view

No data available for SIGNOR curated interactions for HIBCH Gene

Drugs & Compounds for HIBCH Gene

(5) Drugs for HIBCH Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Quercetin Experimental, Investigational Nutra Target Antitumor agent 42
ATP Investigational Nutra Agonist 0
Coenzyme A Investigational Nutra 0

(6) Additional Compounds for HIBCH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-3-Hydroxyisobutyric acid
  • (S)-3-Hydroxyisobutyric acid
  • 2-Methyl-L-(+)-Hydracrylate
  • 2-Methyl-L-(+)-Hydracrylic acid
  • 3-Hydroxy(iso)butyric acid
  • 3-Hydroxy-2-methyl-(S)-Propanoate
2068-83-9
(S)-3-Hydroxyisobutyryl-CoA
  • (S)-3-Hydroxyisobutyryl-CoA
  • (S)-3-Hydroxyisobutyryl-Coenzyme A
  • 3-Hydroxy-2-methylpropanoyl-CoA
  • 3-Hydroxy-2-methylpropanoyl-Coenzyme A
  • 3-Hydroxy-2-methylpropionyl-CoA
319440-43-2
3-Hydroxypropionyl-CoA
  • 3-Hydroxypropanoyl coenzymeA
  • 3-Hydroxypropanoyl-CoA
  • 3-Hydroxypropanoyl-Coenzyme A
  • 3-Hydroxypropionyl coenzyme A
157786-88-4
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Hydroxypropionic acid
  • 2-Deoxyglycerate
  • 2-Deoxyglyceric acid
  • 3-Hydroxypropanoate
  • 3-Hydroxypropanoic acid
  • 3-Hydroxypropionate
503-66-2
genes like me logo Genes that share compounds with HIBCH: view

Transcripts for HIBCH Gene

Unigene Clusters for HIBCH Gene

3-hydroxyisobutyryl-CoA hydrolase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIBCH Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17
SP1: - - - - - -
SP2: - - - -
SP3:
SP4:

Relevant External Links for HIBCH Gene

GeneLoc Exon Structure for
HIBCH
ECgene alternative splicing isoforms for
HIBCH

Expression for HIBCH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIBCH Gene

Protein differential expression in normal tissues from HIPED for HIBCH Gene

This gene is overexpressed in Kidney (10.3) and Adrenal (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HIBCH Gene



Protein tissue co-expression partners for HIBCH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HIBCH Gene:

HIBCH

SOURCE GeneReport for Unigene cluster for HIBCH Gene:

Hs.656685

mRNA Expression by UniProt/SwissProt for HIBCH Gene:

Q6NVY1-HIBCH_HUMAN
Tissue specificity: Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung.

Evidence on tissue expression from TISSUES for HIBCH Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Intestine(4.3)
  • Kidney(3.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HIBCH Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • skull
Thorax:
  • heart
  • heart valve
Abdomen:
  • kidney
General:
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with HIBCH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HIBCH Gene

Orthologs for HIBCH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HIBCH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HIBCH 33 34
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia HIBCH 33 34
  • 90.23 (n)
cow
(Bos Taurus)
Mammalia HIBCH 33 34
  • 88.43 (n)
mouse
(Mus musculus)
Mammalia Hibch 33 16 34
  • 84.16 (n)
rat
(Rattus norvegicus)
Mammalia Hibch 33
  • 82.09 (n)
oppossum
(Monodelphis domestica)
Mammalia HIBCH 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HIBCH 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIBCH 33 34
  • 72.71 (n)
lizard
(Anolis carolinensis)
Reptilia HIBCH 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hibch 33
  • 68.27 (n)
Str.19147 33
zebrafish
(Danio rerio)
Actinopterygii hibch 33 34
  • 63.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5044 35 33 34
  • 53.14 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004097 33
  • 51.68 (n)
worm
(Caenorhabditis elegans)
Secernentea F09F7.4 33 34
  • 53.92 (n)
F09F7.4b 35
  • 46 (a)
F09F7.4a 35
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EHD3 33 34 36
  • 47.22 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR024C 33
  • 46.88 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18678g 33
  • 46.81 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G30660 33
  • 51.34 (n)
rice
(Oryza sativa)
Liliopsida Os12g0264500 33
  • 50.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5609 34
  • 52 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2D10.09 33
  • 48.97 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03777 33
  • 47.29 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5474 33
Species where no ortholog for HIBCH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HIBCH Gene

ENSEMBL:
Gene Tree for HIBCH (if available)
TreeFam:
Gene Tree for HIBCH (if available)

Paralogs for HIBCH Gene

Pseudogenes.org Pseudogenes for HIBCH Gene

genes like me logo Genes that share paralogs with HIBCH: view

No data available for Paralogs for HIBCH Gene

Variants for HIBCH Gene

Sequence variations from dbSNP and Humsavar for HIBCH Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs121918329 pathogenic, Beta-hydroxyisobutyryl-CoA deacylase deficiency, not provided, 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620] 190,290,425(-) T/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs74832989 likely-pathogenic, benign, not provided, not specified 190,261,185(-) C/A/G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs757976755 pathogenic, Beta-hydroxyisobutyryl-CoA deacylase deficiency 190,296,836(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs767597690 pathogenic, Beta-hydroxyisobutyryl-CoA deacylase deficiency 190,296,903(-) TTTTTTTT/TTTTTTT/TTTTTTTTT coding_sequence_variant, frameshift, genic_upstream_transcript_variant, non_coding_transcript_variant
rs770114459 pathogenic, Beta-hydroxyisobutyryl-CoA deacylase deficiency 190,208,892(-) C/T coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for HIBCH Gene

Variant ID Type Subtype PubMed ID
nsv961920 CNV duplication 23825009
esv3593752 CNV loss 21293372

Variation tolerance for HIBCH Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.31; 88.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIBCH Gene

Human Gene Mutation Database (HGMD)
HIBCH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIBCH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIBCH Gene

Disorders for HIBCH Gene

MalaCards: The human disease database

(4) MalaCards diseases for HIBCH Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search HIBCH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HIBCH_HUMAN
  • 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620]: An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. {ECO:0000269 PubMed:17160907}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HIBCH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HIBCH: view

No data available for Genatlas for HIBCH Gene

Publications for HIBCH Gene

  1. Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase. (PMID: 8824301) Hawes JW … Harris RA (The Journal of biological chemistry 1996) 2 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. (PMID: 17160907) Loupatty FJ … Wanders RJ (American journal of human genetics 2007) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene. (PMID: 27400804) Schottmann G … Schuelke M (Movement disorders : official journal of the Movement Disorder Society 2016) 3 58

Products for HIBCH Gene

Sources for HIBCH Gene

Content
Loading form....