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

HIBADH Gene

protein-coding   GIFtS: 58
GCID: GC07M027565

3-Hydroxyisobutyrate Dehydrogenase

  See related diseases
at  

(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-Hydroxyisobutyrate Dehydrogenase1 2
EC 1.1.1.313 8
3'-Hydroxyisobutyrate Dehydrogenase2
3-Hydroxyisobutyrate Dehydrogenase, Mitochondrial2
NS5ATP12
EC 1.1.18

External Ids:    HGNC: 49071   Entrez Gene: 111122   Ensembl: ENSG000001060497   OMIM: 6084755   UniProtKB: P319373   

Export aliases for HIBADH gene to outside databases

Previous GC identifers: GC07U990151 GC07M027207 GC07M027273 GC07M027308 GC07M027307 GC07M027338 GC07M027531 GC07M027445


(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 HIBADH Gene:
This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical
role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate
semialdehyde. (provided by RefSeq, Nov 2011)

GeneCards Summary for HIBADH Gene: 
HIBADH (3-hydroxyisobutyrate dehydrogenase) is a protein-coding gene. Diseases associated with HIBADH include 3-hydroxyisobutyric aciduria, and maple syrup urine disease, and among its related super-pathways are valine degradation I and Metabolic pathways. GO annotations related to this gene include 3-hydroxyisobutyrate dehydrogenase activity and NAD binding. An important paralog of this gene is GLYR1.

Gene Wiki entry for HIBADH (3-hydroxyisobutyrate dehydrogenase) Gene


(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_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HIBADH gene promoter:
         TBP   Max1   MEF-2A   POU2F1   POU2F1b   POU2F1a   FOXO4   aMEF-2   POU2F1c   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): HIBADH promoter sequence
   Search SABiosciences Chromatin IP Primers for HIBADH

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


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

Entrez Gene cytogenetic band: 7p15.2   Ensembl cytogenetic band:  7p15.2   HGNC cytogenetic band: 7p15

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M027565:  view genomic region     (about GC identifiers)

Start:
27,565,059 bp from pter      End:
27,702,620 bp from pter
Size:
137,562 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 27,616,251-27,753,745     

(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: 3HIDH_HUMAN, P31937 (See protein sequence)
Recommended Name: 3-hydroxyisobutyrate dehydrogenase, mitochondrial precursor  
Size: 336 amino acids; 35329 Da
Subunit: Homodimer (By similarity)
Subcellular location: Mitochondrion
2 PDB 3D structures from and Proteopedia for HIBADH:
2GF2 (3D)        2I9P (3D)    
Secondary accessions: Q546Z2 Q9UDN3

Explore the universe of human proteins at neXtProt for HIBADH: NX_P31937

Explore proteomics data for HIBADH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P31937

  • 4/11 DME Specific Peptides for HIBADH (P31937) (see all 11)
     DAPVSGG  IGLGNMG  SSGRCWSSD  AHQIYRMMC 

    HIBADH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HIBADH Protein Expression
    REFSEQ proteins: NP_689953.1  
    ENSEMBL proteins: 
     ENSP00000265395   ENSP00000393365   ENSP00000390205  
    Reactome Protein details: P31937
    Human Recombinant Protein Products for HIBADH: 
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    Cloud-Clone Corp. Proteins for HIBADH 

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

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

    HIBADH 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
    5/7 InterPro protein domains (see all 7):
     IPR006115 6PGDH_NADP-bd
     IPR008927 6-PGluconate_DH_C-like
     IPR015815 HIBADH-type
     IPR011548 IsoBut3OH_DH
     IPR002204 3-OH-isobutyrate_DH-rel_CS

    Graphical View of Domain Structure for InterPro Entry P31937

    ProtoNet protein and cluster: P31937

    2 Blocks protein domains:
    IPB002204 3-hydroxyisobutyrate dehydrogenase
    IPB011548 3-hydroxyisobutyrate dehydrogenase


    UniProtKB/Swiss-Prot: 3HIDH_HUMAN, P31937
    Similarity: Belongs to the 3-hydroxyisobutyrate dehydrogenase family


    HIBADH 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: 3HIDH_HUMAN, P31937
    Catalytic activity: 3-hydroxy-2-methylpropanoate + NAD(+) = 2-methyl-3-oxopropanoate + NADH

         Enzyme Numbers (IUBMB): EC 1.1.1.311 2 EC 1.1.12

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004616phosphogluconate dehydrogenase (decarboxylating) activity IEA--
    GO:00084423-hydroxyisobutyrate dehydrogenase activity TAS--
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0048037cofactor binding ----
    GO:0051287NAD binding IEA--
         
    HIBADH for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Hibadh (no phenotypes)

    HIBADH for phenotypes           About GeneDecksing

    Animal Models:
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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 HIBADH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Branched-chain amino acid catabolism
    Branched-chain amino acid catabolism0.50
    Valine, leucine and isoleucine degradation0.39
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    2         Kegg Pathways  (Kegg details for HIBADH):
        Valine, leucine and isoleucine degradation
    Metabolic pathways

    UniProtKB/Swiss-Prot: 3HIDH_HUMAN, P31937
    Pathway: Amino-acid degradation; L-valine degradation


    HIBADH for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/14 Interacting proteins for HIBADH (P319373 ENSP000002653954) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM63Q969Q13, ENSP000003633904I2D: score=1 STRING: ENSP00000363390
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    SLC2A4P146723I2D: score=1 
    ABATENSP000002682514STRING: ENSP00000268251
    ALDH1B1ENSP000003669274STRING: ENSP00000366927
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006098pentose-phosphate shunt IEA--
    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--

    HIBADH 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

    HIBADH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HIBADH (3HIDH)

    5 HMDB Compounds for HIBADH    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-3-Hydroxyisobutyric acid(S)-3-Hydroxyisobutyric acid (see all 10)2068-83-9--
    (S)-Methylmalonic acid semialdehyde(S)-Methylmalonate semialdehyde (see all 3)99043-16-0--
    2-Methyl-3-oxopropanoic acid2-Methyl-3-oxopropanoate (see all 7)6236-08-4--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--

    1 DrugBank Compound for HIBADH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    3 Novoseek inferred chemical compound relationships for HIBADH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-hydroxyisobutyrate 98.6 15 16466957 (4), 7527207 (3), 16794601 (1), 20127051 (1) (see all 5)
    methylmalonate semialdehyde 95.3 4 7527207 (3), 2403034 (1)
    valine 53.8 3 7527207 (2), 2403034 (1)

    Search CenterWatch for drugs/clinical trials and news about HIBADH / 3HIDH

    (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 HIBADH gene: 
    NM_152740.3  

    Unigene Cluster for HIBADH:

    3-hydroxyisobutyrate dehydrogenase
    Hs.406758  [show with all ESTs]
    Unigene Representative Sequence: AK025558
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265395(uc003szf.3 uc003szg.3 uc003szi.3) ENST00000428288
    ENST00000425715 ENST00000496814
    miRNA
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    Additional mRNA sequence: 

    AB050000.1 AF529362.1 AK025558.1 AK311650.1 AK316605.1 BC013855.1 BC020167.1 BC032324.1 

    19 DOTS entries:

    DT.97847807  DT.100815988  DT.100815989  DT.100815981  DT.121046283  DT.92449304  DT.447590  DT.95144324 
    DT.95144346  DT.100803167  DT.40263687  DT.97847808  DT.100683904  DT.100706682  DT.121046302  DT.121046407 
    DT.95144354  DT.121046271  DT.121046314 

    24/403 AceView cDNA sequences (see all 403):

    CB131686 CR611219 AW614653 CB164337 AA603638 AI650776 NM_152740 CD242860 
    BM725908 CR608754 AF529362 AI968334 BC013855 AW271661 BM715305 AI863527 
    CR591074 BP368170 AI660792 BI962663 AA298145 BM703547 AI952440 CR612191 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HIBADH (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
    SP1:                                      -                       -                                 
    SP2:                    -                 -                       -                                 
    SP3:                    -     -     -     -                       -                                 
    SP4:                                      -                                                         
    SP5:                                      -     -     -                                             


    ECgene alternative splicing isoforms for HIBADH

    (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

    HIBADH expression in normal human tissues (normalized intensities)      HIBADH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HIBADH Expression
    About this image


    HIBADH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See HIBADH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HIBADH

    SOURCE GeneReport for Unigene cluster: Hs.406758

    UniProtKB/Swiss-Prot: 3HIDH_HUMAN, P31937
    Tissue specificity: Detected in skin fibroblasts

        SABiosciences Expression via Pathway-Focused PCR Array including HIBADH: 
              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 HIBADH gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hibadh1 , 5 3-hydroxyisobutyrate dehydrogenase1, 5 88.96(n)1
    91.34(a)1
      6 (25.60 cM)5
    588751  NM_145567.11  NP_663542.11 
     525462285 
    chicken
    (Gallus gallus)
    Aves HIBADH1 3-hydroxyisobutyrate dehydrogenase 80.22(n)
    84.64(a)
      420632  NM_001006362.1  NP_001006362.1 
    lizard
    (Anolis carolinensis)
    Reptilia HIBADH6
    3-hydroxyisobutyrate dehydrogenase
    80(a)
    1 ↔ 1
    GL343275.1(1006441-1109923)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.37332 Xenopus laevis transcribed sequence with moderate similarity to protein spP31937 (H.sapiens) D3HI_HUMAN 3-hydroxyisobutyrate dehydrogenase, mitochondrial precursor (HIBADH) less 79.53(n)    CB209489.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc662622 similar to 3-hydroxyisobutyrate dehydrogenase 79.45(n)   394135  BC055573.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG150931 CG15093 51.87(n)
    48.12(a)
      37166  NM_001202043.1  NP_001188972.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_B0250.51 Protein B0250.5 55.86(n)
    54.95(a)
      180344  NM_075542.5  NP_507943.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G209301 3-hydroxyisobutyrate dehydrogenase 55.79(n)
    51.58(a)
      827841  NM_118211.4  NP_567617.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g06774001 hypothetical protein 55.17(n)
    50.52(a)
      9268115  NM_001188026.1  NP_001174955.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HIBADH gene
    GLYR12  

    HIBADH for paralogs           About GeneDecksing



    (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

    10/2797 SNPs in HIBADH are shown (see all 2797)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs582528631,2
    C--27471948(+) TAACT-/TA    
       GACGA
    ACTAC
    1 -- int10--------
    rs1505797411,2
    --27564567(+) CTGAAA/CAATAC 1 -- ds50010--------
    rs1387708911,2
    --27564612(+) AGAACA/TTATGC 1 -- ds50010--------
    rs732879281,2
    C,F--27564643(+) GTGTCT/GTGTTC 1 -- ds50012Minor allele frequency- G:0.05WA 120
    rs1807410011,2
    --27564692(+) TTTTTA/CTCACC 1 -- ds50010--------
    rs1124314821,2
    F--27564698(+) TCACCC/AGTAAA 1 -- ds50012Minor allele frequency- A:0.50CSA 4
    rs132422381,2
    C,F,H--27564744(+) GTCTAG/TGTCTA 1 -- ds500111Minor allele frequency- T:0.31NS EA NA 804
    rs1864650731,2
    --27564757(+) ACCTGA/GAATGT 1 -- ds50010--------
    rs1416931341,2
    --27564779(+) GAGGTA/GGGAAA 1 -- ds50010--------
    rs1462453231,2
    --27564809(+) ATTGGA/GGCATG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for HIBADH (27565059 - 27702620 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HIBADH:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv269080CNV Insertion20981092
    nsv830930CNV Loss17160897
    nsv7393OTHER Inversion18451855

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    (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: 608475    OMIM disorders: --

    4 diseases for HIBADH:    About MalaCards
    3-hydroxyisobutyric aciduria    maple syrup urine disease    obesity    tuberculosis

    1 disease from the University of Copenhagen DISEASES database for HIBADH:
    Maple syrup urine disease

    HIBADH for disorders           About GeneDecksing

    Genetic Association Database (GAD): HIBADH
    Human Genome Epidemiology (HuGE) Navigator: HIBADH (2 documents)

    Export disorders for HIBADH 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 HIBADH gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with HIBADH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. (PubMed id 16466957)1, 2, 9 Loupatty F.J....Wanders R.J. (2006)
    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. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    6. Human liver protein map: update 1993. (PubMed id 8313870)1, 2 Hughes G.J.... Hochstrasser D.F. (1993)
    7. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    8. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. 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)

    (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: 11112 HGNC: 4907 AceView: HIBADH Ensembl:ENSG00000106049 euGenes: HUgn11112
    ECgene: HIBADH Kegg: 11112 H-InvDB: HIBADH

    (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 HIBADH 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 HIBADH gene:
    Search GeneIP for patents involving HIBADH

    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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