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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HIBCH Gene

protein-coding   GIFtS: 61
GCID: GC02M191054

3-hydroxyisobutyryl-CoA hydrolase

(Previous name: 3-hydroxyisobutyryl-Coenzyme A hydrolase )
 Explore 11 diseases affiliated with
HIBCH via our new
 Human Malady Compendium 
Biological research products
for HIBCH
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
3-Hydroxyisobutyryl-CoA Hydrolase1 2     EC 3.1.2.43 8
3-Hydroxyisobutyryl-Coenzyme A Hydrolase1 2 3     3-Hydroxyisobutyryl-CoA Hydrolase, Mitochondrial2
HIBYL-CoA-H2 3     HIBYLCOAH2
HIB-CoA Hydrolase2 3     

External Ids:    HGNC: 49081   Entrez Gene: 262752   Ensembl: ENSG000001981307   OMIM: 6106905   UniProtKB: Q6NVY13   

Export aliases for HIBCH gene to outside databases

Previous GC identifers: GC02M189263 GC02M189772 GC02M191033 GC02M191272 GC02M191271 GC02M190894 GC02M190777 GC02M182929


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HIBCH:
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)

UniProtKB/Swiss-Prot: HIBCH_HUMAN, Q6NVY1
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HIBCH gene promoter:
         HFH-3   FOXI1   HOXA9   HOXA9B   Meis-1   Meis-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHIBCH promoter sequence
   Search SABiosciences Chromatin IP Primers for HIBCH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HIBCH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q32.2   Ensembl cytogenetic band:  2q32.2   HGNC cytogenetic band: 2q32.3

HIBCH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIBCH gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M191054:  view genomic region     (about GC identifiers)

Start:
191,054,461 bp from pter      End:
191,208,919 bp from pter
Size:
154,459 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HIBCH_HUMAN, Q6NVY1 (See protein sequence)
Recommended Name: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial precursor  
Size: 386 amino acids; 43482 Da
Subcellular location: Mitochondrion (By similarity)
Sequence caution: Sequence=AAC52114.1; Type=Erroneous initiation; Sequence=AAH05190.2; Type=Erroneous initiation;
Sequence=AAY24178.1; Type=Erroneous initiation; Sequence=BAD96699.1; Type=Erroneous initiation; Sequence=BAD96743.1;
Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for HIBCH:
3BPT (3D)    
Secondary accessions: D3DPI4 Q53GA8 Q53GF2 Q53RF7 Q53TC6 Q92931 Q9BS94
Alternative splicing: 2 isoforms:  Q6NVY1-1   Q6NVY1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HIBCH: NX_Q6NVY1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6NVY1

  • 4/7 DME Specific Peptides for HIBCH (Q6NVY1) (see all 7)
     KSPSKEN  RLKGRDV  KAFCAGGD  EGVRAVLIDK 

    HIBCH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_055177.2  NP_932164.1  

    ENSEMBL proteins: 
     ENSP00000398060   ENSP00000376144   ENSP00000352706   ENSP00000386274   ENSP00000399263  
     ENSP00000387098   ENSP00000376145   ENSP00000414820   ENSP00000387247  
    Reactome Protein details: Q6NVY1
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    Uscn Proteins for HIBCH

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--


    HIBCH for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HIBCH for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR014748 Crontonase_C

    Graphical View of Domain Structure for InterPro Entry Q6NVY1

    ProtoNet protein and cluster: Q6NVY1

    UniProtKB/Swiss-Prot: HIBCH_HUMAN, Q6NVY1
    Similarity: Belongs to the enoyl-CoA hydratase/isomerase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HIBCH_HUMAN, Q6NVY1
    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
    Catalytic activity: 3-hydroxy-2-methylpropanoyl-CoA + H(2)O = CoA + 3-hydroxy-2-methylpropanoate

    Enzyme Number (IUBMB): EC 3.1.2.41 2

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038603-hydroxyisobutyryl-CoA hydrolase activity IEA--


    HIBCH for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for HIBCH:
     Decreased p24 protein expressi  Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Branched-chain amino acid catabolism
    Branched-chain amino acid catabolism1.00
    Valine, leucine and isoleucine degradation0.39
    valine degradation I0.48
    Propanoate metabolism0.07
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00
    4beta-Alanine metabolism
    beta-Alanine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for HIBCH 
        valine degradation I

    3        Reactome Pathways for HIBCH
        Metabolism
    Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism


    4         Kegg Pathways  (Kegg details for HIBCH):
        Valine, leucine and isoleucine degradation
    beta-Alanine metabolism
    Propanoate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: HIBCH_HUMAN, Q6NVY1
    Pathway: Amino-acid degradation; L-valine degradation


    HIBCH for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HIBCH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/76 Interacting proteins for HIBCH (Q6NVY13 ENSP000003527064) via UniProtKB, MINT, STRING, and/or I2D (see all 76)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006574valine catabolic process IEA--
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--


    HIBCH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HIBCH

    9 HMDB Compounds for HIBCH    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-3-Hydroxyisobutyric acid(S)-3-Hydroxyisobutyric acid (see all 10)2068-83-9--
    (S)-3-Hydroxyisobutyryl-CoA3-Hydroxy-2-methylpropanoyl-CoA (see all 10)319440-43-2--
    3-Hydroxypropionyl-CoA3-Hydroxypropionyl coenzyme A (see all 4)157786-88-4--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Hydroxypropionic acid2-Deoxyglycerate (see all 18)503-66-2--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for HIBCH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Quercetin-- 117-39-5target--10592235

    Search CenterWatch for drugs/clinical trials and news about HIBCH 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HIBCH gene (2 alternative transcripts): 
    NM_014362.3  NM_198047.2  

    Unigene Cluster for HIBCH:

    3-hydroxyisobutyryl-CoA hydrolase
    Hs.656685  [show with all ESTs]
    Unigene Representative Sequence: NM_014362
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399855 ENST00000392332 ENST00000359678(uc002uru.3 uc002urv.3)
    ENST00000486981 ENST00000410045 ENST00000416732 ENST00000489147 ENST00000409820
    ENST00000392333 ENST00000485992 ENST00000414928 ENST00000409934 ENST00000489269
    ENST00000495792

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    Additional cDNA sequence: 

    AK222979.1 AK223023.1 AK308042.1 AK313651.1 BC005190.1 BC067822.1 U66669.1 

    21 DOTS entries:

    DT.99927984  DT.101971560  DT.447680  DT.70100531  DT.40109832  DT.100822031  DT.121008381  DT.75103259 
    DT.87015635  DT.91931191  DT.92445805  DT.95173987  DT.100647587  DT.100822028  DT.120866786  DT.121008385 
    DT.91964918  DT.95173994  DT.97773228  DT.97855057  DT.95089894 

    24/267 AceView cDNA sequences (see all 267):

    AA383404 CR602055 CR623866 AL520503 AA456847 AA055335 AA829878 CR615079 
    BQ006495 AA831964 CR598902 BX447433 AA627387 BF446361 AA459668 AK126890 
    BI491489 BM829786 AA923435 BX484706 AI784606 CR609485 BI753619 BM544619 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for HIBCH    About this scheme

    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:                                                                                                                        


    ECgene alternative splicing isoforms for HIBCH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HIBCH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACGTGAAAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See HIBCH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HIBCH

    SOURCE GeneReport for Unigene cluster: Hs.656685

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

        SABiosciences Expression via Pathway-Focused PCR Array including HIBCH: 
              Amino Acid Metabolism II in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HIBCH gene from 10/33 species (see all 33)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hibch1 , 5 3-hydroxyisobutyryl-Coenzyme A hydrolase1, 5 84.16(n)1
    82.08(a)1
      1 (26.99 cM)5
    2270951  NM_146108.11  NP_666220.11 
     528450135 
    chicken
    (Gallus gallus)
    Aves HIBCH1 3-hydroxyisobutyryl-CoA hydrolase 72.73(n)
    70.86(a)
      423979  NM_001031243.1  NP_001026414.1 
    lizard
    (Anolis carolinensis)
    Reptilia HIBCH6
    --
    73(a)
    1 ↔ 1
    2(134771798-134801269)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.191472 Transcribed sequence with weak similarity to protein more 74.88(n)    BX774497.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hibch1 3-hydroxyisobutyryl-Coenzyme A hydrolase 64.15(n)
    67.65(a)
      798364  NM_001014316.1  NP_001014338.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50441 , 3 3-hydroxyisobutyryl-CoA hydrolase3
    CG50441
    49(a)3
    53.14(n)1
    53.82(a)1
      88F13
    418691  NM_142196.21  NP_650453.31 
    worm
    (Caenorhabditis elegans)
    Secernentea F09F7.4b3
    F09F7.41
    Protein F09F7.41 46(a)
    (best of 2)3
    53.89(n)1
    49.44(a)1
      1757661  NM_171126.41  NP_741143.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes EHD3(YDR036C)4
    EHD31
    3-hydroxyisobutyryl-CoA hydrolase, member of a family more4
    Ehd3p1
    47.37(n)1
    36.68(a)1
      4(524713-523211)4
    8516061, 4  NP_010321.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G306601 3-hydroxyisobutyryl-CoA hydrolase 51.34(n)
    43.03(a)
      817616  NM_128618.3  NP_180624.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g02645001 hypothetical protein 50.19(n)
    44.15(a)
      4351929  NM_001073061.1  NP_001066529.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HIBCH gene

    HIBCH for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HIBCH
    PGOHUM00000235110


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2223 NCBI SNPs in HIBCH are shown (see all 2223    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs799667441,2
    --182929287(+) TTATAT/GTGTAT 2 -- ut311Minor allele frequency- G:0.01NA 120
    rs115466371,2
    C--182929477(+) CTATTG/ACAACT 2 -- ut311Minor allele frequency- A:0.00NA 2
    rs1115051881,2
    F--182929544(+) ATAAAG/ACTTTA 2 -- ut312Minor allele frequency- A:0.50CSA 6
    rs118852541,2
    C,H--182929902(+) TATTGT/CTAGAT 2 -- int11Minor allele frequency- C:0.00NA 2
    rs67278471,2
    C,F,A,--182930690(+) ATGGAA/TATATT 2 -- int11Minor allele frequency- T:0.03WA 118
    rs775355561,2
    F,--182930950(+) ATTCCG/ATGGAC 2 -- int11Minor allele frequency- A:0.02NA 120
    rs746548401,2
    F,--182931262(+) GTAATT/CTGTTC 2 -- int11Minor allele frequency- C:0.03NA 120
    rs747204321,2
    C,--182931611(+) TGGCAG/TGCGCT 2 -- int11Minor allele frequency- T:0.50WA 2
    rs739790001,2
    C,--182931938(+) AGGTCC/GTCTAA 2 -- int12Minor allele frequency- G:0.04WA 120
    rs730537451,2
    C,F,--182931979(+) AGCAAG/CAATTT 2 -- int14Minor allele frequency- C:0.18WA CSA 124

    HapMap Linkage Disequilibrium report for HIBCH (191054461 - 191208919 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HIBCH: --
    Human Gene Mutation Database (HGMD): HIBCH

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HIBCH for disorders           About GeneDecksing

    OMIM gene information: 610690   
    OMIM disorders: 250620  
    UniProtKB/Swiss-Prot: HIBCH_HUMAN, Q6NVY1
  • Defects in HIBCH are the cause of HIBCH deficiency (HIBCHD) [MIM:250620]; also known as deficiency of
  • beta-hydroxyisobutyryl CoA deacylase or methacrylic aciduria. The enzyme defect results in accumulation of
    methacrylyl-CoA, a highly reactive compound, which readily undergoes addition reactions with free sulfhydryl groups.
    Affected individuals showed delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration
    in neurological function during first stages of life

    11 diseases for HIBCH:    About MalaCards
    3-hydroxyisobutryl-coa hydrolase deficiency    loeys-dietz syndrome    ehlers-danlos syndrome    hypotonia
    liver disease    hepatocellular carcinoma    neurodegeneration    tuberculosis
    carcinoma    malaria    mycobacterium tuberculosis

    1 disease from the University of Copenhagen DISEASES database for HIBCH:
    Loeys-Dietz syndrome
    Human Genome Epidemiology (HuGE) Navigator: HIBCH (2 documents)

    Export disorders for HIBCH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HIBCH gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with HIBCH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure and tissue-specific expression of human beta- hydroxyisobutyryl-coenzyme A hydrolase. (PubMed id 8824301)1, 2, 3 Hawes J.W.... Harris R.A. (1996)
    2. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. (PubMed id 17160907)1, 2 Loupatty F.J.... Wanders R.J.A. (2007)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Proteomic dissection of cell type-specific H2AX-inter acting protein complex associated with hepatocellular carcinoma. (PubMed id 20000738)1 Yang X....Chen X. (2010)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    10. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26275 HGNC: 4908 AceView: HIBCH Ensembl:ENSG00000198130 euGenes: HUgn26275
    ECgene: HIBCH Kegg: 26275 H-InvDB: HIBCH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HIBCH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HIBCH gene:
    Search GeneIP for patents involving HIBCH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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