Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HADH Gene

Aliases for HADH Gene

  • Hydroxyacyl-CoA Dehydrogenase 2 3 5
  • Medium And Short-Chain L-3-Hydroxyacyl-Coenzyme A Dehydrogenase 3 4
  • L-3-Hydroxyacyl-Coenzyme A Dehydrogenase, Short Chain 2 3
  • Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase 3 4
  • EC 1.1.1.35 4 61
  • HADHSC 3 4
  • SCHAD 3 4
  • HCDH 3 4
  • HAD 3 4
  • Hydroxyacyl-Coenzyme A Dehydrogenase, Mitochondrial 3
  • Testis Secretory Sperm-Binding Protein Li 203a 3
  • Hydroxyacyl-Coenzyme A Dehydrogenase 2
  • EC 1.1.1 61
  • MSCHAD 3
  • HADH1 3
  • HHF4 3

External Ids for HADH Gene

Previous HGNC Symbols for HADH Gene

  • HADHSC

Previous GeneCards Identifiers for HADH Gene

  • GC07U990046
  • GC04P109130
  • GC04P108910
  • GC04P104642

Summaries for HADH Gene

Entrez Gene Summary for HADH Gene

  • This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]

GeneCards Summary for HADH Gene

HADH (Hydroxyacyl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with HADH include 3-Hydroxyacyl-Coa Dehydrogenase Deficiency and Hyperinsulinemic Hypoglycemia, Familial, 4. Among its related pathways are gamma-linolenate biosynthesis and Mitochondrial Fatty Acid Beta-Oxidation. GO annotations related to this gene include oxidoreductase activity and NAD binding. An important paralog of this gene is HADHA.

UniProtKB/Swiss-Prot for HADH Gene

  • Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.

Gene Wiki entry for HADH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HADH Gene

Genomics for HADH Gene

Regulatory Elements for HADH Gene

Enhancers for HADH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around HADH on UCSC Golden Path with GeneCards custom track

Promoters for HADH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for HADH Gene

Chromosome:
4
Start:
107,989,714 bp from pter
End:
108,035,175 bp from pter
Size:
45,462 bases
Orientation:
Plus strand

Genomic View for HADH Gene

Genes around HADH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HADH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HADH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HADH Gene

Proteins for HADH Gene

  • Protein details for HADH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16836-HCDH_HUMAN
    Recommended name:
    Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
    Protein Accession:
    Q16836
    Secondary Accessions:
    • J3KQ17
    • O00324
    • O00397
    • O00753
    • Q4W5B4

    Protein attributes for HADH Gene

    Size:
    314 amino acids
    Molecular mass:
    34294 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for HADH Gene

    Alternative splice isoforms for HADH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HADH Gene

Post-translational modifications for HADH Gene

  • Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for HADH Gene

Suggested Antigen Peptide Sequences for HADH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16836

UniProtKB/Swiss-Prot:

HCDH_HUMAN :
  • Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
Family:
  • Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with HADH: view

No data available for Gene Families for HADH Gene

Function for HADH Gene

Molecular function for HADH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.
UniProtKB/Swiss-Prot Function:
Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.

Enzyme Numbers (IUBMB) for HADH Gene

Gene Ontology (GO) - Molecular Function for HADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity TAS --
GO:0070403 NAD+ binding IEA --
genes like me logo Genes that share ontologies with HADH: view
genes like me logo Genes that share phenotypes with HADH: view

Human Phenotype Ontology for HADH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HADH Gene

MGI Knock Outs for HADH:

Animal Model Products

  • Taconic Biosciences Mouse Models for HADH

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for HADH Gene

Localization for HADH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HADH Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HADH Gene COMPARTMENTS Subcellular localization image for HADH gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with HADH: view

Pathways & Interactions for HADH Gene

genes like me logo Genes that share pathways with HADH: view

UniProtKB/Swiss-Prot Q16836-HCDH_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for HADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation TAS --
GO:0009725 response to hormone IEA --
GO:0014823 response to activity IEA --
GO:0032868 response to insulin IEA --
GO:0042493 response to drug IEA --
genes like me logo Genes that share ontologies with HADH: view

No data available for SIGNOR curated interactions for HADH Gene

Drugs & Compounds for HADH Gene

(15) Drugs for HADH Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 919
Stiripentol Approved Pharma An LDH inhibitor 7
Trilostane Approved, Investigational, Vet_approved, Withdrawn Pharma 2
Acetoacetyl-CoA Experimental Pharma Target 0

(28) Additional Compounds for HADH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(3S)-3-Hydroxyadipyl-CoA
  • (3S)-3-Hydroxyadipyl-CoEnzyme A
(S)-3-Hydroxydodecanoyl-CoA
  • (S)-3-hydroxydodecanoyl-coenzyme A
  • (S)-3-hydroxylauroyl-CoA
  • (S)-3-hydroxylauroyl-coenzyme A
72059-49-5
(S)-3-Hydroxyhexadecanoyl-CoA
  • (S)-3-hydroxyhexadecanoyl-coenzyme A
  • (S)-3-hydroxypalmitoyl-coenzyme A
  • b-Hydroxypalmitoyl-CoA
  • b-Hydroxypalmitoyl-Coenzyme A
  • beta-Hydroxypalmitoyl-CoA
35106-50-4
(S)-3-Hydroxyisobutyric acid
  • (S)-3-Hydroxyisobutyric acid
  • 2-Methyl-L-(+)-Hydracrylate
  • 2-Methyl-L-(+)-Hydracrylic acid
  • 3-Hydroxy(iso)butyric acid
  • 3-Hydroxy-2-methyl-(S)-Propanoate
2068-83-9
(S)-3-Hydroxytetradecanoyl-CoA
  • (S)-3-Hydroxytetradecanoyl-CoA.
  • (S)-3-Hydroxytetradecanoyl-Coenzyme A.

(7) ApexBio Compounds for HADH Gene

Compound Action Cas Number
AGI-6780 IDH2/R140Q mutation inhibitor 1432660-47-3
CPI-613 PDH/α-KGDH inhibitor 95809-78-2
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Mycophenolate Mofetil IMPDH inhibitor 128794-94-5
Stiripentol An LDH inhibitor 49763-96-4
Trilostane 13647-35-3
genes like me logo Genes that share compounds with HADH: view

Transcripts for HADH Gene

Unigene Clusters for HADH Gene

Hydroxyacyl-CoA dehydrogenase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HADH Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2: - - -
SP3: - - - - -
SP4: - -
SP5:
SP6: -

Relevant External Links for HADH Gene

GeneLoc Exon Structure for
HADH
ECgene alternative splicing isoforms for
HADH

Expression for HADH Gene

mRNA expression in normal human tissues for HADH Gene

mRNA differential expression in normal tissues according to GTEx for HADH Gene

This gene is overexpressed in Heart - Left Ventricle (x4.4).

Protein differential expression in normal tissues from HIPED for HADH Gene

This gene is overexpressed in Liver, secretome (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HADH Gene



Protein tissue co-expression partners for HADH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HADH Gene:

HADH

SOURCE GeneReport for Unigene cluster for HADH Gene:

Hs.438289

mRNA Expression by UniProt/SwissProt for HADH Gene:

Q16836-HCDH_HUMAN
Tissue specificity: Expressed in liver, kidney, pancreas, heart and skeletal muscle.
genes like me logo Genes that share expression patterns with HADH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HADH Gene

Orthologs for HADH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HADH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HADH 34
  • 88.32 (n)
  • 89.81 (a)
HADH 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HADH 34
  • 87.36 (n)
  • 90.21 (a)
HADH 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hadh 34
  • 84.93 (n)
  • 90.13 (a)
Hadh 16
Hadh 35
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HADH 34
  • 99.6 (n)
  • 99.4 (a)
HADH 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hadh 34
  • 85.56 (n)
  • 90.45 (a)
oppossum
(Monodelphis domestica)
Mammalia HADH 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HADH 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves HADH 34
  • 75.93 (n)
  • 78.27 (a)
HADH 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HADH 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hadh 34
  • 75.23 (n)
  • 80.48 (a)
Str.7598 34
African clawed frog
(Xenopus laevis)
Amphibia hadhsc-prov 34
zebrafish
(Danio rerio)
Actinopterygii hadh 34
  • 69.36 (n)
  • 76.7 (a)
wufb66a11 34
hadh 35
  • 76 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8646 34
worm
(Caenorhabditis elegans)
Secernentea B0272.3 34
  • 56.6 (n)
  • 56.25 (a)
B0272.3 35
  • 54 (a)
OneToMany
F54C8.1 35
  • 47 (a)
OneToMany
hacd-1 35
  • 44 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G15290 34
  • 48.04 (n)
  • 41.64 (a)
rice
(Oryza sativa)
Liliopsida Os01g0796400 34
  • 49.64 (n)
  • 45.62 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1772 34
bread mold
(Neurospora crassa)
Ascomycetes NCU09553 34
  • 52.81 (n)
  • 43.37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2628 35
  • 62 (a)
OneToOne
Species where no ortholog for HADH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HADH Gene

ENSEMBL:
Gene Tree for HADH (if available)
TreeFam:
Gene Tree for HADH (if available)

Paralogs for HADH Gene

Paralogs for HADH Gene

Pseudogenes.org Pseudogenes for HADH Gene

genes like me logo Genes that share paralogs with HADH: view

Variants for HADH Gene

Sequence variations from dbSNP and Humsavar for HADH Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs137853101 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) 107,990,050(+) TGGGC(A/G)CCGGC nc-transcript-variant, reference, missense
rs137853102 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) 108,009,797(+) GTAGA(A/C)CAGAC nc-transcript-variant, reference, missense
rs137853103 Familial hyperinsulinemic hypoglycemia 4 (HHF4) 108,033,239(+) GGGCC(C/T)ATTTG nc-transcript-variant, reference, missense
rs4956145 - 108,009,883(+) AAACC(C/T)TAAGG nc-transcript-variant, reference, missense
rs1051519 - 108,019,576(+) TTGCA(G/T)ATTAC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HADH Gene

Variant ID Type Subtype PubMed ID
esv2759272 CNV loss 17122850
nsv1003893 CNV gain 25217958

Variation tolerance for HADH Gene

Residual Variation Intolerance Score: 69.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.07; 80.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HADH Gene

Human Gene Mutation Database (HGMD)
HADH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HADH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HADH Gene

Disorders for HADH Gene

MalaCards: The human disease database

(11) MalaCards diseases for HADH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3-hydroxyacyl-coa dehydrogenase deficiency
  • 3-alpha-hydroxyacyl-coenzyme a dehydrogenase deficiency
hyperinsulinemic hypoglycemia, familial, 4
  • familial hyperinsulinemic hypoglycemia 4
hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency
  • hadh deficiency
3-hydroxyacyl-coenzyme a dehydrogenase deficiency
  • 3-hydroxyacyl-coa dehydrogenase deficiency
hadh-related hyperinsulinism
- elite association - COSMIC cancer census association via MalaCards
Search HADH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HCDH_HUMAN
  • 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]: A metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. {ECO:0000269 Ref.13}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first experiment of nature that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion. {ECO:0000269 PubMed:11489939}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HADH

Genetic Association Database (GAD)
HADH
Human Genome Epidemiology (HuGE) Navigator
HADH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HADH
genes like me logo Genes that share disorders with HADH: view

No data available for Genatlas for HADH Gene

Publications for HADH Gene

  1. 3-hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. (PMID: 16176262) Yang S.-Y. … Schulz H. (FEBS J. 2005) 2 3 4 22 65
  2. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. (PMID: 11489939) Clayton P.T. … van den Berg I.E.T. (J. Clin. Invest. 2001) 3 4 22 65
  3. Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism. (PMID: 10231530) Barycki J.J. … Banaszak L.J. (Biochemistry 1999) 3 4 22 65
  4. Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence. (PMID: 8687463) Vredendaal P.J.C.M. … Berger R. (Biochem. Biophys. Res. Commun. 1996) 3 4 22 65
  5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 46 65

Products for HADH Gene

Sources for HADH Gene

Content
Loading form....