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HIBCH Gene

protein-coding   GIFtS: 62
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   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 Chromatin IP Primers for HIBCH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HIBCH_HUMAN, Q6NVY1 (See protein sequence)
Recommended Name: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial precursor  
Size: 386 amino acids; 43482 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HIBCH (Q6NVY1) (see all 7)
     KSPSKEN  RLKGRDV  KAFCAGGD  EGVRAVLIDK 


    See HIBCH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    HIBCH Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for HIBCH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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:
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    miRNA
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    1 qRT-PCR Assays for microRNA that regulate HIBCH:
    hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidHIBCH 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HIBCH_HUMAN, Q6NVY1: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    HIBCH for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HIBCH About    
    See pathways by source

    SuperPathContained pathways About
    1Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    valine degradation I0.00
    Propanoate metabolism0.31
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism0.00
    Metabolism of amino acids and derivatives
    4Carbon metabolism
    Carbon metabolism0.38
    5beta-Alanine metabolism
    beta-Alanine metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HIBCH
        valine degradation I

    1 Reactome Pathway for HIBCH
        Branched-chain amino acid catabolism


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

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


    HIBCH for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including HIBCH: 

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HIBCH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HIBCH (Q6NVY13 ENSP000003527064) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
    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:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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 qRT-PCR Assays for microRNA that regulate HIBCH:
    hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidHIBCH 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat HIBCH

    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 

    Selected AceView cDNA sequences (see all 267):

    AA055335 AI470941 AA627387 CR602055 BF446361 AA923435 CA448468 AI984954 
    CR598902 AL520503 BE048143 AW516213 CR610664 BX404686 AA551338 BX447433 
    AA829878 AA361941 BM544619 NM_198047 BM718112 AA383404 CR615079 CR618975 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    HIBCH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HIBCH Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including HIBCH: 
              Amino Acid Metabolism II in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIBCH

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HIBCH gene from Selected species (see all 23)    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 72.71(n)
    70.67(a)
      423979  NM_001031243.1  NP_001026414.1 
    lizard
    (Anolis carolinensis)
    Reptilia HIBCH6
    3-hydroxyisobutyryl-CoA hydrolase
    69(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 63.46(n)
    66.58(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_142196.31  NP_650453.31 
    worm
    (Caenorhabditis elegans)
    Secernentea F09F7.4b3
    F09F7.41
    F09F7.41 46(a)
    (best of 2)3
    53.92(n)1
    49.31(a)1
      1757661  NM_171126.51  NP_741143.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes EHD3(YDR036C)4
    EHD31
    3-hydroxyisobutyryl-CoA hydrolase, member of a family more4
    EHD31
    47.22(n)1
    37.07(a)1
      4(524713-523211)4
    8516061, 4  NP_010321.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G306601 AT2G30660 51.34(n)
    43.03(a)
      817616  NM_128618.3  NP_180624.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g02645001 Os12g0264500 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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HIBCH (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
    Site Specific Mutation Identification with 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.)
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    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

  • 10 diseases for HIBCH:    
    About MalaCards
    3-hydroxyisobutryl-coa hydrolase deficiency    loeys-dietz syndrome    ehlers-danlos syndrome    hypotonia
    liver disease    tuberculosis    hepatocellular carcinoma    hiv-1
    multiple myeloma    myeloma

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

    HIBCH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    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)
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    PubMed articles for HIBCH gene, integrated from 10 sources (see all 23):
    (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. (J. Biol. Chem. 1996)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 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. (Am. J. Hum. Genet. 2007)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    5. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. Proteomic dissection of cell type-specific H2AX-interacting protein complex associated with hepatocellular carcinoma. (PubMed id 20000738)1 Yang X....Chen X. (J. Proteome Res. 2010)
    10. Genetic associations of variants in genes encoding HIV-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (J. Infect. Dis. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 26275 HGNC: 4908 AceView: HIBCH Ensembl:ENSG00000198130 euGenes: HUgn26275
    ECgene: HIBCH Kegg: 26275 H-InvDB: HIBCH

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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