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

HIBCH Gene

protein-coding   GIFtS: 63
GCID: GC02M191054

3-Hydroxyisobutyryl-CoA Hydrolase

(Previous name: 3-hydroxyisobutyryl-Coenzyme A hydrolase)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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 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-hydroxyisobutryl-coa hydrolase deficiency, and loeys-dietz syndrome, and among its related super-pathways are valine degradation I and Metabolic pathways. GO annotations related to this gene include 3-hydroxyisobutyryl-CoA hydrolase activity.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for HIBCH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HIBCH Protein Expression
    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
    Human Recombinant Protein Products for HIBCH: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. 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 HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     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


    HIBCH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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 IDA8824301
         
    HIBCH for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HIBCH 
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    hsa-miR-548c-3p
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HIBCH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Branched-chain amino acid catabolism
    valine degradation I0.53
    Valine, leucine and isoleucine degradation0.39
    Branched-chain amino acid catabolism0.50
    Propanoate metabolism0.31
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3beta-Alanine metabolism
    beta-Alanine metabolism
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    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)

    5/86 Interacting proteins for HIBCH (Q6NVY13 ENSP000003527064) via UniProtKB, MINT, STRING, and/or I2D (see all 86)

    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006574valine catabolic process IEA--
    GO:0008152metabolic process ----
    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, Ligands according to IUPHAR, 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate HIBCH:
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    Inhib. RNA
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    Additional mRNA 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):

    BX484706 AA551338 AL520503 NM_198047 BM723063 CR618975 AI984954 CR598902 
    BX447433 AA361941 AA055334 AA912753 BM718112 AA055335 AI470941 NM_014362 
    CR609485 H96254 CR602055 CR615079 BF446361 BI753619 AA831964 BM789035 

    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 <intensity>2/3
    CGAP TAG: ACGTGAAAAT
    HIBCH 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 10/22 species (see all 22)    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
    Uncharacterized protein
    70(a)
    1 ↔ 1
    2(134725266-134802139)
    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, 4UniProtKB, 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

    10/2600 SNPs in HIBCH are shown (see all 2600)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0318704
    HIBCH deficiency (HIBCHD)4--see VAR_0318702 Y C mis40--------
    rs752038211,2
    C--182949390(-) ACTTCA/GTCCAG 2 -- int12Minor allele frequency- G:0.25NA 4
    rs753928731,2
    C--182982984(+) GTAAAT/CTGGTA 2 -- int11Minor allele frequency- C:0.00NA 2
    rs2016151091,2
    C--183003239(+) GTAGAA/GCAGCA 2 -- int10--------
    rs1907830321,2
    --190455396(+) TGTTTC/GTAAGG 2 -- ds50010--------
    rs126180601,2
    C,H--190455639(+) TTTCTA/GATGTT 2 -- ds50014Minor allele frequency- G:0.20NA WA EA 360
    rs1437483001,2
    C--190455647(+) GTTTAC/TAAAAG 2 -- ds50010--------
    rs1815367931,2
    --190455792(+) GTCTTC/TATTTT 2 -- ut310--------
    rs799667441,2
    F--190455803(+) TTATAT/GTGTAT 2 -- ut311Minor allele frequency- G:0.01NA 120
    rs10582301,2
    C,F,A--190455843(-) ATCTTC/TGTTTG 2 -- ut31 ese310Minor allele frequency- T:0.43WA NA CSA EA 372

    HapMap Linkage Disequilibrium report for HIBCH (191054461 - 191208919 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HIBCH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv875620CNV Loss21882294
    nsv875619CNV Gain21882294
    nsv875621CNV Gain21882294


    Human Gene Mutation Database (HGMD): HIBCH
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HIBCH
    DNA2.0 Custom Variant and Variant Library Synthesis for HIBCH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610690   
    OMIM disorders: 250620  
    UniProtKB/Swiss-Prot: HIBCH_HUMAN, Q6NVY1
  • HIBCH deficiency (HIBCHD) [MIM:250620]: 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 7 diseases for HIBCH:    About MalaCards
    3-hydroxyisobutryl-coa hydrolase deficiency    loeys-dietz syndrome    ehlers-danlos syndrome    hypotonia
    liver disease    tuberculosis    hepatocellular carcinoma

    1 disease from the University of Copenhagen DISEASES database for HIBCH:
    Loeys-Dietz syndrome

    HIBCH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): HIBCH
    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 22):
    (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. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. 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)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. 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)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. 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)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Proteomic dissection of cell type-specific H2AX-inter acting protein complex associated with hepatocellular carcinoma. (PubMed id 20000738)1 Yang X....Chen X. (2010)
    10. Genetic associations of variants in genes encoding HI V-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (2010)

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

      Query String
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    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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