Human Gene HIBADH (ENST00000265395.7_7) from GENCODE V47lift37
  Description: 3-hydroxyisobutyrate dehydrogenase (from RefSeq NM_152740.4)
Gencode Transcript: ENST00000265395.7_7
Gencode Gene: ENSG00000106049.9_9
Transcript (Including UTRs)
   Position: hg19 chr7:27,565,061-27,702,502 Size: 137,442 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr7:27,565,833-27,702,407 Size: 136,575 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:27,565,061-27,702,502)mRNA (may differ from genome)Protein (336 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  ID: 3HIDH_HUMAN
DESCRIPTION: RecName: Full=3-hydroxyisobutyrate dehydrogenase, mitochondrial; Short=HIBADH; EC=1.1.1.31; Flags: Precursor;
CATALYTIC ACTIVITY: 3-hydroxy-2-methylpropanoate + NAD(+) = 2- methyl-3-oxopropanoate + NADH.
SUBUNIT: Homodimer (By similarity).
SUBCELLULAR LOCATION: Mitochondrion.
SIMILARITY: Belongs to the 3-hydroxyisobutyrate dehydrogenase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HIBADH
Diseases sorted by gene-association score: 3-hydroxyisobutyric aciduria (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 72.67 RPKM in Adrenal Gland
Total median expression: 1001.48 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -45.3095-0.477 Picture PostScript Text
3' UTR -161.90772-0.210 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002204 - 3-OH-isobutyrate_DH-rel_CS
IPR008927 - 6-PGluconate_DH_C-like
IPR006115 - 6PGDH_NADP-bd
IPR013328 - DH_multihelical
IPR015815 - HIBADH-type
IPR011548 - IsoBut3OH_DH
IPR016040 - NAD(P)-bd_dom

Pfam Domains:
PF02826 - D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain
PF03446 - NAD binding domain of 6-phosphogluconate dehydrogenase
PF03807 - NADP oxidoreductase coenzyme F420-dependent
PF14833 - NAD-binding of NADP-dependent 3-hydroxyisobutyrate dehydrogenase

SCOP Domains:
48179 - 6-phosphogluconate dehydrogenase C-terminal domain-like
51735 - NAD(P)-binding Rossmann-fold domains
52440 - PreATP-grasp domain
51984 - MurCD N-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2GF2 - X-ray MuPIT 2I9P - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P31937
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
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 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004616 phosphogluconate dehydrogenase (decarboxylating) activity
GO:0008442 3-hydroxyisobutyrate dehydrogenase activity
GO:0016491 oxidoreductase activity
GO:0051287 NAD binding

Biological Process:
GO:0006574 valine catabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  LF207146 - JP 2014500723-A/14649: Polycomb-Associated Non-Coding RNAs.
BC013855 - Homo sapiens 3-hydroxyisobutyrate dehydrogenase, mRNA (cDNA clone IMAGE:4705292).
BC020167 - Homo sapiens 3-hydroxyisobutyrate dehydrogenase, mRNA (cDNA clone IMAGE:3529287).
AB050000 - Homo sapiens mRNA for 3'-hydroxyisobutyrate dehydrogenase, complete cds.
BC032324 - Homo sapiens 3-hydroxyisobutyrate dehydrogenase, mRNA (cDNA clone MGC:40361 IMAGE:3890576), complete cds.
GQ900978 - Homo sapiens clone HEL-T-90 epididymis secretory sperm binding protein mRNA, complete cds.
AF529362 - Homo sapiens NS5ATP1 (NS5ATP1) mRNA, complete cds.
AK316605 - Homo sapiens cDNA, FLJ96784, Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.
DQ894677 - Synthetic construct Homo sapiens clone IMAGE:100009137; FLH177413.01L; RZPDo839H08123D 3-hydroxyisobutyrate dehydrogenase (HIBADH) gene, encodes complete protein.
AK025558 - Homo sapiens cDNA: FLJ21905 fis, clone HEP03764.
AK311650 - Homo sapiens cDNA, FLJ18692.
MA442723 - JP 2018138019-A/14649: Polycomb-Associated Non-Coding RNAs.
LF362380 - JP 2014500723-A/169883: Polycomb-Associated Non-Coding RNAs.
LF362385 - JP 2014500723-A/169888: Polycomb-Associated Non-Coding RNAs.
MA597957 - JP 2018138019-A/169883: Polycomb-Associated Non-Coding RNAs.
MA597962 - JP 2018138019-A/169888: Polycomb-Associated Non-Coding RNAs.
LF362425 - JP 2014500723-A/169928: Polycomb-Associated Non-Coding RNAs.
LF355145 - JP 2014500723-A/162648: Polycomb-Associated Non-Coding RNAs.
JD140023 - Sequence 121047 from Patent EP1572962.
JD395473 - Sequence 376497 from Patent EP1572962.
JD097749 - Sequence 78773 from Patent EP1572962.
MA598002 - JP 2018138019-A/169928: Polycomb-Associated Non-Coding RNAs.
MA590722 - JP 2018138019-A/162648: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
VALDEG-PWY - L-valine degradation

Reactome (by CSHL, EBI, and GO)

Protein P31937 (Reactome details) participates in the following event(s):

R-HSA-70885 beta-hydroxyisobutyrate + NAD+ <=> methylmalonyl semialdehyde + NADH + H+
R-HSA-508473 methylmalonyl semialdehyde + NADH + H+ <=> beta-hydroxyisobutyrate + NAD+
R-HSA-70895 Branched-chain amino acid catabolism
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: 3HIDH_HUMAN, ENST00000265395.1, ENST00000265395.2, ENST00000265395.3, ENST00000265395.4, ENST00000265395.5, ENST00000265395.6, NM_152740, P31937, Q546Z2, Q9UDN3, uc317ibc.1, uc317ibc.2
UCSC ID: ENST00000265395.7_7
RefSeq Accession: NM_152740.4
Protein: P31937 (aka 3HIDH_HUMAN or D3HI_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.