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Aliases for HADH Gene

Aliases for HADH Gene

  • Hydroxyacyl-CoA Dehydrogenase 2 3
  • HADHSC 3 4 6
  • SCHAD 3 4 6
  • 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 63
  • HCDH 3 4
  • HHF4 3 6
  • HAD 3 4
  • Hydroxyacyl-Coenzyme A Dehydrogenase, Mitochondrial 3
  • Hydroxyacyl-Coenzyme A Dehydrogenase 2
  • EC 1.1.1 63
  • MSCHAD 3
  • HADH1 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 hyperinsulinemic hypoglycemia, familial, 4 and 3-hydroxyacyl-coa dehydrogenase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include NAD+ binding and 3-hydroxyacyl-CoA dehydrogenase activity. An important paralog of this gene is EHHADH.

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

Genomic Location for HADH Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for HADH Gene at MOPED

Post-translational modifications for HADH Gene

  • Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity).
  • Ubiquitination at Lys202
  • Modification sites at PhosphoSitePlus

Other Protein References for HADH Gene

Domains 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 :
  • Q16836
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:0016491 oxidoreductase activity --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor --
GO:0050660 flavin adenine dinucleotide binding --
GO:0051287 NAD binding --
genes like me logo Genes that share ontologies with HADH: view
genes like me logo Genes that share phenotypes with HADH: view

Animal Models for HADH Gene

MGI Knock Outs for HADH:

No data available for Transcription Factor Targeting 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 4
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:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with HADH: view

Pathways 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:0006631 fatty acid metabolic process --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0009725 response to hormone --
GO:0014823 response to activity IEA --
GO:0032868 response to insulin IEA --
genes like me logo Genes that share ontologies with HADH: view

Compounds for HADH Gene

(26) HMDB Compounds for HADH Gene

Compound Synonyms Cas Number PubMed IDs
(3S)-3-Hydroxyadipyl-CoA
  • (3S)-3-Hydroxyadipyl-CoEnzyme A
Not Available
(S)-3-Hydroxydodecanoyl-CoA
  • (S)-3-hydroxydodecanoyl-coenzyme A
72059-49-5
(S)-3-Hydroxyhexadecanoyl-CoA
  • (S)-3-hydroxyhexadecanoyl-coenzyme A
35106-50-4
(S)-3-hydroxypalmitoleoyl-CoA
  • (S)-3-hydroxyhexadeca-9Z-enoyl-CoA
Not Available
(S)-3-Hydroxytetradecanoyl-CoA
  • (S)-3-Hydroxytetradecanoyl-Coenzyme A.
Not Available

(4) Drugbank Compounds for HADH Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3-Hydroxybutyryl-Coenzyme A
target
Acetoacetyl-Coenzyme A
1420-36-6 target
NADH
  • beta-DPNH
606-68-8 target
Nicotinamide-Adenine-Dinucleotide
53-84-9 target

(10) Novoseek inferred chemical compound relationships for HADH Gene

Compound -log(P) Hits PubMed IDs
fatty acid 60.9 7
acyl-coa 58 2
katp 55.3 1
diazoxide 51.1 1
nad+ 44.6 4
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:

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Left Ventricle (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HADH Gene

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 expressions with HADH: view

Orthologs for HADH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HADH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HADH 35
  • 99.6 (n)
  • 99.4 (a)
HADH 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HADH 35
  • 88.32 (n)
  • 89.81 (a)
HADH 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HADH 35
  • 87.36 (n)
  • 90.21 (a)
HADH 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hadh 35
  • 84.93 (n)
  • 90.13 (a)
Hadh 16
Hadh 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HADH 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HADH 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hadh 35
  • 85.56 (n)
  • 90.45 (a)
chicken
(Gallus gallus)
Aves HADH 35
  • 75.93 (n)
  • 78.27 (a)
HADH 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HADH 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hadhsc-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hadh 35
  • 75.23 (n)
  • 80.48 (a)
Str.7598 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8646 35
zebrafish
(Danio rerio)
Actinopterygii hadh 35
  • 69.36 (n)
  • 76.7 (a)
hadh 36
  • 76 (a)
OneToOne
wufb66a11 35
worm
(Caenorhabditis elegans)
Secernentea B0272.3 35
  • 56.6 (n)
  • 56.25 (a)
B0272.3 36
  • 54 (a)
OneToMany
F54C8.1 36
  • 47 (a)
OneToMany
hacd-1 36
  • 44 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G15290 35
  • 48.04 (n)
  • 41.64 (a)
rice
(Oryza sativa)
Liliopsida Os01g0796400 35
  • 49.64 (n)
  • 45.62 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09553 35
  • 52.81 (n)
  • 43.37 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1772 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2628 36
  • 62 (a)
OneToOne
Species with no ortholog for HADH:
  • 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 MAF
rs141066 -- 108,010,395(-) CTCCT(A/T)CTCAT intron-variant
rs170240 -- 108,003,401(-) ggtgc(A/G)gcctt intron-variant, upstream-variant-2KB
rs172709 -- 108,026,016(+) GTATT(C/T)TTTTG intron-variant
rs190090 -- 108,025,987(+) ACCTT(C/T)GATAA intron-variant
rs221329 -- 108,002,930(-) gccag(G/T)catgt intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1658e1 CNV Complex 17122850

Relevant External Links for HADH Gene

HapMap Linkage Disequilibrium report
HADH
Human Gene Mutation Database (HGMD)
HADH

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

Disorders for HADH Gene

(2) OMIM Diseases for HADH Gene (601609)

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.12}. 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.

(3) University of Copenhagen DISEASES for HADH Gene

(3) Novoseek inferred disease relationships for HADH Gene

Disease -log(P) Hits PubMed IDs
hyperinsulinism 87 7
hypoglycemia 65.9 3
enzyme deficiency 55.2 1

Relevant External Links for HADH

GeneTests
HADH
GeneReviews
HADH
Genetic Association Database (GAD)
HADH
Human Genome Epidemiology (HuGE) Navigator
HADH
genes like me logo Genes that share disorders with HADH: view

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 23
  2. 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 23
  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 23
  4. 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 23
  5. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. (PMID: 14693719) Molven A. … vik O. (Diabetes 2004) 3 23

Products for HADH Gene

Sources for HADH Gene

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