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Aliases & Descriptions for HADH
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 1.1.1.35 3 HAD 2 , 3 HADH1 1 , 2 HADHSC 2 , 3 HCDH 3 HHF4 2 M/SCHAD 2 MGC8392 2 SCHAD 1 , 2 , 3
Descriptions L-3-hydroxyacyl-Coenzyme A dehydrogenase 2 L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain 1 , 2 Medium and short chain L-3-hydroxyacyl-coenzyme A dehydrogenase 3 Short chain 3-hydroxyacyl-CoA dehydrogenase 3 hydroxyacyl-Coenzyme A dehydrogenase 2
Search outside databases for aliases for HADH genePrevious GC identifer: GC07U990046
Summaries for HADH (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for HADH : This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded proteinfunctions in the mitochondrial matrix to catalyze the oxidation of straight-chain3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest withmedium-chain-length fatty acids. Mutations in this gene cause one form of familialhyperinsulinemic hypoglycemia. The human genome contains a related pseudogene. [provided byRefSeq] UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836 Function : Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids.Exerts it highest activity toward 3-hydroxybutyryl-CoA
Genomic Location for HADH
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 4q22-q26 Ensembl cytogenetic band: 4q25 HGNC cytogenetic band: 4q22-q26 HADH Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure
GeneLoc location for GC04P109130:
(about GC identifiers )
Start:
109,130,319 bp from pter
End:
109,175,780 bp from pter
Size:
45,462 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000004.10 NT_016354.18 Proteins for HADH
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836 (See
protein sequence )Recommended Name: Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial precursor Size : 314 amino acids; 34278 Da
Subunit : Homodimer
Subcellular location : Mitochondrion matrix
PDB structures from and Proteopedia : 1F0Y (3D)
 1F12 (3D)
 1F14 (3D)
 1F17 (3D)
 1IL0 (3D)
 1LSJ (3D)
 1LSO (3D)
 1M75 (3D)
 1M76 (3D)
 2HDH (3D)
 3HAD (3D)
 
Secondary accessions : O00324 O00397 O00753Alternative splicing : 2 isoforms : Q16836-1 Q16836-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_005318.2 ENSEMBL proteins: ENSP00000265168 ENSP00000385638 ENSP00000312288 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: HADH 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for HADH: Assays for HADH:
Protein
Domains/ Families for HADH(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q16836 ProtoNet protein and cluster: Q16836
2 Blocks protein families : IPB006176 3-hydroxyacyl-CoA dehydrogenase IPB006180 3-hydroxyacyl-CoA dehydrogenase UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836 Similarity : Belongs to the 3-hydroxyacyl-CoA dehydrogenase family
Gene Function for HADH
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005327 Applied Biosystems Silencer ® siRNAs for HADH Sigma-Aldrich siRNA for HADH Sigma-Aldrich shRNA for HADH Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_005327                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005327                                  untagged cDNA clone in CMV expression vector: NM_005327  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005327 UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836 Function : Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids.Exerts it highest activity toward 3-hydroxybutyryl-CoA Catalytic activity : (S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADHEnzyme Number (IUBMB): EC 1.1.1.35
4 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for HADH
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for HADH (Your Favorite Gene powered by Ingenuity) (see all 7
) UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836 Pathway : Lipid metabolism; fatty acid beta-oxidation
Gene Network CentralTM Interacting Genes and Proteins Network for HADH 5/34 Interacting proteins for HADH (ENSP00000265168 3 ) via UniProtKB, MINT, and/or STRING (see all 34
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006629 lipid metabolic process
IEA -- GO:0006631 fatty acid metabolic process
IEA -- GO:0055114 oxidation reduction
IEA --
About this table
Drugs & Compounds for HADH (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for HADH 7 Novoseek chemical compound relationships for HADH gene
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Transcripts for HADH(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
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OriGene ,
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005327 Sigma-Aldrich siRNA for HADH Sigma-Aldrich shRNA for HADH Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_005327
REFSEQ mRNAs for HADH gene: NM_005327.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005327
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005327                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005327                                  untagged cDNA clone in CMV expression vector: NM_005327  
Additional cDNA sequence: AF001902.1 AF001903.1 AK096018.1 AK314444.1 BC000306.2 CR590438.1 CR591982.1 CR592199.1 CR593079.1 CR616506.1 CR618120.1 X96752.1
11 DOTS entries : DT.454550 DT.97770815 DT.95127733 DT.217941 DT.100817974 DT.95127731 DT.100817977 DT.100817983 DT.121276253 DT.97803912 DT.121276237
24/340 AceView cDNA sequences (see all 340
):AI095852 AI123379 BX419040 CA393734 AL572990 BM797221 BM676252 BG166962 BM783903 AI089645 BM510048 AI346992 CB126339 BM771929 AI625958 CR616506 CA941970 BM312222 AA601524 BQ182966 CR591982 AI890436 AA359010 BG505143
highest scoring ESTs for HADH :AF001903 X96752 AA011651 AA029885 AA030023 AA043935 AA047784 AA057130 AA057196 AA074725
Unigene Cluster for HADH: Hydroxyacyl-Coenzyme A dehydrogenase Hs.438289 [show with all ESTs ] Unigene Representative Sequence: NM_005327 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HADH (see all 6
) 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 :                                      
About this scheme ECgene alternative splicing isoforms for HADH 3 Ensembl transcripts including schematic representations : ENST00000351726
ENST00000403312
ENST00000309522
Expression for HADH
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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HADH expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for HADH 1 / 2 / 3
8 probe-sets matching HADH gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AGAAATCACTSOURCE GeneReport for Unigene cluster: Hs.438289 UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836 Tissue specificity : Expressed in liver, kidney, pancreas, heart and skeletal muscle
Orthologs for HADH
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for HADH gene from 5/17 species (see all 17
)
About this table Species with no ortholog for HADH ENSEMBL Gene Tree for HADH Paralogs for HADH (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for HADH gene EHHADH 2 HADHA 2
SNPs/Variants for HADH (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for HADH (up to first 250kb)
Disorders & Mutations for HADH
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 601609 UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836
Defects in HADH are the cause of 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADHdeficiency) [MIM:231530]. HADH deficiency is a metabolic disorder with various clinicalpresentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and insome cases sudden death Defects in HADH are the cause of familial hyperinsulinemic hypoglycemia 4 (HHF4)[MIM:609975]. Inappropriately elevated insulin secretion is the hallmark of persistenthyperinsulinemic hypoglycemia of infancy (PHHI), also denoted congenital hyperinsulinism. PHHI isdue to defective negative feedback regulation of insulin secretion by low glucose levels. Unlessearly and aggressive intervention is undertaken, brain damage from recurrent episodes ofhypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine speciesand 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 thatprovides support for the concept that a lipid signaling pathway is implicated in the control ofinsulin secretion
3 Novoseek disease relationships for HADH gene
About this table GeneTests: HADH Familial Hyperinsulinism Human Gene Mutation Database : HADH Human Genome Epidemiology Navigator: HADH (1 document)
Medical News for HADH (Possibly Related Articles in
Doctor's Guide )
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--
Publications for HADH (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/42 PubMed articles for HADH gene (see all 42
): 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. (PubMed id 16176262) 1, 2, 3, 4 Yang S.Y....Schulz H. (2005) Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism. (PubMed id 10231530) 1, 3, 4 Barycki J.J.... Banaszak L.J. (1999) Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence. (PubMed id 8687463) 1, 3, 4 Vredendaal P.J.C.M.... Berger R. (1996) Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. (PubMed id 11489939) 1, 3, 4 Clayton P.T....van den Berg I.E.T. (2001) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Sequestration of the active site by interdomain shifting. Crystallographic and spectroscopic evidence for distinct conformations of L-3-hydroxyacyl-CoA dehydrogenase. (PubMed id 10840044) 3, 4 Barycki J.J.... Banaszak L.J. (2000) A preliminary analysis of the segregation of human hydroxyacyl coenzyme A dehydrogenase in human-mouse somatic cell hybrids. (PubMed id 975867) 2, 3 Craig I....Bobrow M. (1976) The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility: the DAMAGE study. (PubMed id 17065362) 1, 3 van Hove E.C....'t Hart L.M. (2006) Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene. (PubMed id 9716664) 1, 3 Vredendaal P.J....Berger R. (1998) Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation. (PubMed id 10347277) 1, 3 Bennett M.J....Wanders R.J. (1999)
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Genome Databases showing HADH
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing HADH
(According to HUGE )
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Specialized Databases showing HADH (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=HADH
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-- Services for HADH (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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