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

IVD Gene

protein-coding   GIFtS: 69
GCID: GC15P040697

Isovaleryl-CoA Dehydrogenase

(Previous names: isovaleryl Coenzyme A dehydrogenase, isovaleryl CoA dehydrogenase)
Pneumococci & Pneumococcal Diseases Congress
  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
Isovaleryl-CoA Dehydrogenase1 2     Isovaleryl-CoA Dehydrogenase, Mitochondrial2
Isovaleryl CoA Dehydrogenase1 2     EC 1.3.8.43
Isovaleryl Coenzyme A Dehydrogenase1 2     EC 1.3.998
ACAD22     EC 1.3.99.108

External Ids:    HGNC: 61861   Entrez Gene: 37122   Ensembl: ENSG000001289287   OMIM: 6070365   UniProtKB: P264403   

Export aliases for IVD gene to outside databases

Previous GC identifers: GC15P036065 GC15P033593 GC15P038276 GC15P038413 GC15P038484 GC15P017541


(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 IVD Gene:
Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine
catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the
central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Apr 2009)

GeneCards Summary for IVD Gene: 
IVD (isovaleryl-CoA dehydrogenase) is a protein-coding gene. Diseases associated with IVD include isovaleric acidemia, and discitis, and among its related super-pathways are Branched-chain amino acid catabolism and Metabolic pathways. GO annotations related to this gene include isovaleryl-CoA dehydrogenase activity and flavin adenine dinucleotide binding. An important paralog of this gene is ACADL.




(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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IVD gene promoter:
         NF-1   CBF-B   CBF-A   CP2   NF-YA   MyoD   CP1A   NF-Y   CBF(2)   RORalpha2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIVD promoter sequence
   Search SABiosciences Chromatin IP Primers for IVD

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


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

Entrez Gene cytogenetic band: 15q14-q15   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q14-q15

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P040697:  view genomic region     (about GC identifiers)

Start:
40,697,686 bp from pter      End:
40,728,146 bp from pter
Size:
30,461 bases      Orientation:
plus 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: IVD_HUMAN, P26440 (See protein sequence)
Recommended Name: Isovaleryl-CoA dehydrogenase, mitochondrial precursor  
Size: 423 amino acids; 46319 Da
Cofactor: FAD
Subunit: Homotetramer
Subcellular location: Mitochondrion matrix
Sequence caution: Sequence=BAG53799.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for IVD:
1IVH (3D)    
Secondary accessions: B2RCV5 B3KVI7 Q96AF6
Alternative splicing: 2 isoforms:  P26440-1   P26440-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IVD: NX_P26440

Explore proteomics data for IVD at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P26440

  • 4/10 DME Specific Peptides for IVD (P26440) (see all 10)
     EPNAGSD  RGSNTCE  VLVMEEISR  KLDKLGMRGS 

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

    IVD Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001152980.1  NP_002216.2  

    ENSEMBL proteins: 
     ENSP00000418397   ENSP00000417990   ENSP00000453821   ENSP00000417256   ENSP00000452949  
     ENSP00000453146   ENSP00000453929   ENSP00000454145   ENSP00000249760  
    Reactome Protein details: P26440
    Human Recombinant Protein Products for IVD: 
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    ProSpec Recombinant Protein for IVD
    Cloud-Clone Corp. Proteins for IVD 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--
    GO:0031966mitochondrial membrane ----

    IVD for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for IVD 
    Cloud-Clone Corp. CLIAs for IVD


    (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):
     IPR006090 Acyl-CoA_Oxase/DH_1
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR006089 Acyl-CoA_DH_CS
     IPR009100 AcylCoA_DH/oxidase

    Graphical View of Domain Structure for InterPro Entry P26440

    ProtoNet protein and cluster: P26440

    1 Blocks protein domain: IPB006089 Acyl-CoA dehydrogenase

    UniProtKB/Swiss-Prot: IVD_HUMAN, P26440
    Similarity: Belongs to the acyl-CoA dehydrogenase family


    IVD 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: IVD_HUMAN, P26440
    Catalytic activity: Isovaleryl-CoA + electron-transfer flavoprotein = 3-methylcrotonyl-CoA + reduced
    electron-transfer flavoprotein

         Genatlas biochemistry entry for IVD:
    isovaleryl-CoA dehydrogenase,branched chain,leucine catabolism

         Enzyme Numbers (IUBMB): EC 1.3.99.102 EC 1.3.992 EC 1.3.8.41

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003995acyl-CoA dehydrogenase activity ----
    GO:0008470isovaleryl-CoA dehydrogenase activity ISS--
    GO:0016491oxidoreductase activity ----
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    IVD for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IVD:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for IVD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for IVD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IVD 
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    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IVD
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate IVD (see all 13):
    hsa-miR-495 hsa-miR-539 hsa-miR-7-2* hsa-miR-516b* hsa-miR-548aa hsa-miR-374c hsa-miR-370 hsa-miR-885-3p
    SwitchGear 3'UTR luciferase reporter plasmidIVD 3' UTR sequence
    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 IVD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Branched-chain amino acid catabolism
    Branched-chain amino acid catabolism0.50
    leucine degradation I0.33
    Valine, leucine and isoleucine degradation0.39
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Valproic Acid Pathway, Pharmacokinetics
    Valproic Acid Pathway, Pharmacokinetics
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for IVD
        leucine degradation I


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

    1 PharmGKB Pathway for IVD
        Valproic Acid Pathway, Pharmacokinetics

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

    UniProtKB/Swiss-Prot: IVD_HUMAN, P26440
    Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA:
    step 1/3


    IVD for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for IVD (P264403 ENSP000002497604) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    BCKDHAENSP000002699804STRING: ENSP00000269980
    BCKDHBENSP000003183514STRING: ENSP00000318351
    DBTENSP000003591514STRING: ENSP00000359151
    DLDENSP000002054024STRING: ENSP00000205402
    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:0006552leucine catabolic process ISS--
    GO:0008152metabolic process ----
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    IVD 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 IVD

    10/36 HMDB Compounds for IVD (see all 36)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3-Methylcrotonyl-CoA3-Methylbut-2-enoyl-CoA (see all 14)793193-48-3--
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--

    2 DrugBank Compounds for IVD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Coenzyme a Persulfide-- --target--17139284 17016423
    Flavin-Adenine Dinucleotide-- 146-14-5target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about IVD

    (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 IVD gene (2 alternative transcripts): 
    NM_001159508.1  NM_002225.3  

    Unigene Cluster for IVD:

    Isovaleryl-CoA dehydrogenase
    Hs.513646  [show with all ESTs]
    Unigene Representative Sequence: NM_002225
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490194 ENST00000487418 ENST00000479013 ENST00000558610 ENST00000473112
    ENST00000484250 ENST00000481262 ENST00000491554 ENST00000497252 ENST00000560660
    ENST00000497816 ENST00000559575 ENST00000466756 ENST00000249760(uc001zls.3 uc001zlq.2 uc001zlr.2)


    miRNA
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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate IVD (see all 13):
    hsa-miR-495 hsa-miR-539 hsa-miR-7-2* hsa-miR-516b* hsa-miR-548aa hsa-miR-374c hsa-miR-370 hsa-miR-885-3p
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    Additional mRNA sequence: 

    AF070531.1 AK022777.1 AK092168.1 AK122922.1 AK315296.1 AY826821.1 AY826822.1 AY826823.1 
    BC017202.2 BT007145.1 M34192.1 

    14 DOTS entries:

    DT.91792517  DT.40242139  DT.316604  DT.40295191  DT.100784742  DT.121022989  DT.442487  DT.92068054 
    DT.92438305  DT.100037489  DT.95069544  DT.100818208  DT.99930381  DT.100818201 

    24/274 AceView cDNA sequences (see all 274):

    BM771552 BE042901 BQ940708 BM762208 BI910403 BM771570 R16446 BT007145 
    BE303040 F03662 BU195605 BU075597 F03982 BE277803 BM746210 BM771688 
    BM772077 BM765973 AA331482 R11193 AI681417 BQ010313 AF070531 BE303039 

    GeneLoc Exon Structure

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

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b
    SP1:                    -           -                                         -           -                                       
    SP2:                    -     -     -                                                                                             
    SP3:                    -                                                                                                         
    SP4:                                                                                                                              
    SP5:                                -                                                                                             


    ECgene alternative splicing isoforms for IVD

    (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

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


    IVD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/38 selected tissues (see all 38) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Lymph (Hematopoietic System)    fully expand to see all 3 entries
             lymph node ; non-germinal center cells   
             LYMPH NODE   

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

    SOURCE GeneReport for Unigene cluster: Hs.513646
        SABiosciences Expression via Pathway-Focused PCR Array including IVD: 
              Amino Acid Metabolism I 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 IVD gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ivd1 , 5 isovaleryl coenzyme A dehydrogenase1, 5 87.38(n)1
    90.71(a)1
      2 (59.64 cM)5
    563571  NM_019826.31  NP_062800.11 
     1188619545 
    chicken
    (Gallus gallus)
    Aves IVD1 isovaleryl-CoA dehydrogenase 78.03(n)
    88.13(a)
      423011  NM_001199561.1  NP_001186490.1 
    lizard
    (Anolis carolinensis)
    Reptilia IVD6
    Uncharacterized protein
    79(a)
    1 ↔ 1
    GL343264.1(1050574-1085379)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.30372 Xenopus laevis transcribed sequence with moderate similarity more 77.91(n)    BX853968.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.2032 Danio rerio mRNA similar to isovaleryl Coenzyme A dehydrogenase more 76.37(n)    BC045426.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG66381 , 3 isovaleryl-CoA dehydrogenase3
    CG66381
    66(a)3
    63.5(n)1
    66.07(a)1
      389791  NM_139982.41  NP_648239.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C02B10.13
    ivd-11
    acyl-CoA dehydrogenase3
    Protein IVD-11
    66(a)
    (best of 3)3
    63.1(n)1
    67.18(a)1
      IV(5087193-5088310)3
    1772811  NM_068319.51  NP_500720.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons IVD1 isovaleryl-CoA-dehydrogenase 60.3(n)
    65.26(a)
      823668  NM_114399.4  NP_190116.1 
    rice
    (Oryza sativa)
    Liliopsida Os.284092 Rice mRNA, partial homologous to chloroplast ORF109 74.58(n)    AK066314.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IVD gene
    ACADL2  ACAD82  ACADSB2  GCDH2  ACAD112  ACADS2  ACAD92  ACADM2  
    ACAD102  ACADVL2  
    9 SIMAP similar genes for IVD using alignment to 9 protein entries:     IVD_HUMAN (see all proteins):
    GCDH    ACADSB    ACADL    ACAD8    ACADS    ACAD9
    ACADVL    ACADM    DKFZp686M24262

    IVD 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

    10/485 SNPs in IVD are shown (see all 485)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0159634
    Isovaleric acidemia (IVA)4--see VAR_0159632 C R mis40--------
    VAR_0159604
    Isovaleric acidemia (IVA)4--see VAR_0159602 R P mis40--------
    VAR_0159654
    Isovaleric acidemia (IVA)4--see VAR_0159652 R C mis40--------
    VAR_0004244
    Isovaleric acidemia (IVA)4--see VAR_0004242 G V mis40--------
    VAR_0159664
    Isovaleric acidemia (IVA)4--see VAR_0159662 R L mis40--------
    VAR_0159644
    Isovaleric acidemia (IVA)4--see VAR_0159642 V A mis40--------
    VAR_0004234
    Isovaleric acidemia (IVA)4--see VAR_0004232 L P mis40--------
    VAR_0159614
    Isovaleric acidemia (IVA)4--see VAR_0159612 D N mis40--------
    rs289408891,2,4
    C,FIsovaleric acidemia (IVA)4 pathogenic120775137(+) GGAAGC/TCTTTG 4 A V mis12Minor allele frequency- T:0.00NA EU 5805
    rs346954031,2
    Cpathogenic120767326(+) AGCTTC/G/TGTCAG 3 R C mis1 int11NA 76

    HapMap Linkage Disequilibrium report for IVD (40697686 - 40728146 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for IVD:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749600CNV Deletion23290073
    nsv510660CNV Loss20534489
    esv34145CNV Loss18971310


    Human Gene Mutation Database (HGMD): IVD

    Locus Specific Mutation Databases (LSDB): IVD
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing IVD
    DNA2.0 Custom Variant and Variant Library Synthesis for IVD

    (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: 607036   
    OMIM disorders: 243500  
    UniProtKB/Swiss-Prot: IVD_HUMAN, P26440
  • Isovaleric acidemia (IVA) [MIM:243500]: Characterized by retarded psychomotor development, a peculiar
    odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and
    coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for IVD:    About MalaCards
    isovaleric acidemia    discitis    amphetamine abuse    the organic acidemias: an
    radiculopathy    degenerative disc disease    organic acidemia    human immunodeficiency virus infectious disease
    aids dementia complex    vascular dementia    metabolic acidosis    dementia
    tuberculosis    sarcoma    thyroiditis

    4 diseases from the University of Copenhagen DISEASES database for IVD:
    Isovaleric acidemia     Degenerative disc disease     Mucoepidermoid carcinoma     Radiculopathy

    IVD for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genatlas disease: IVD
    isovalericacidemia (IVD deficiency),recurrent acidosis,with ketosis,mild hyperammonemia,lethargy and coma,sweety
    feet during episodes

    Genetic Association Database (GAD): IVD
    Human Genome Epidemiology (HuGE) Navigator: IVD (6 documents)

    Export disorders for IVD 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 IVD gene, integrated from 9 sources (see all 39):
    (articles sorted by number of sources associating them with IVD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. (PubMed id 2063866)1, 2, 3 Vockley J.... Tanaka K. (1991)
    2. Nucleotide sequence of messenger RNA encoding human isovaleryl- coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts. (PubMed id 2318964)1, 2, 9 Matsubara Y....Tanaka K. (1990)
    3. Human metabolic individuality in biomedical and pharma ceutical research. (PubMed id 21886157)1, 4 Suhre K....Gieger C. (2011)
    4. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    6. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    10. Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. (PubMed id 10677295)1, 2 Vockley J.... Liu W. (2000)

    (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: 3712 HGNC: 6186 AceView: IVD Ensembl:ENSG00000128928 euGenes: HUgn3712
    ECgene: IVD Kegg: 3712 H-InvDB: IVD

    (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 IVD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IVD

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

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



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    About This Section

     
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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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