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    HADH hydroxyacyl-CoA dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 3033, updated on 3-Nov-2024

    Summary

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    Official Symbol
    HADHprovided by HGNC
    Official Full Name
    hydroxyacyl-CoA dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:4799
    See related
    Ensembl:ENSG00000138796 MIM:601609; AllianceGenome:HGNC:4799
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HAD; HCDH; HHF4; HADH1; SCHAD; HADHSC; MSCHAD
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 86.5), kidney (RPKM 61.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HADH in Genome Data Viewer
    Location:
    4q25
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (107989889..108035171)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (111292223..111337508)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (108911045..108956327)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene CYP2U1 and SGMS2 antisense RNA 1 Neighboring gene uncharacterized LOC107986298 Neighboring gene uncharacterized LOC124900751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:108852075-108852582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21792 Neighboring gene uncharacterized LOC107986299 Neighboring gene cytochrome P450 family 2 subfamily U member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:108977631-108978132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21793 Neighboring gene lymphoid enhancer binding factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21794 Neighboring gene NANOG hESC enhancer GRCh37_chr4:109038529-109039038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21795 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:109056573-109057124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:109088159-109088660 Neighboring gene uncharacterized LOC124900752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15617 Neighboring gene NANOG hESC enhancer GRCh37_chr4:109091848-109092478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:109107455-109107956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:109107957-109108456 Neighboring gene LEF1 antisense RNA 1 Neighboring gene VISTA enhancer hs1545 Neighboring gene uncharacterized LOC124900753

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A preliminary analysis of the segregation of human hydroxyacyl coenzyme A dehydrogenase in human-mouse somatic cell hybrids. Craig I, et al. Cytogenet Cell Genet, 1976. PMID 975867
    2. A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. Çamtosun E, et al. J Clin Res Pediatr Endocrinol, 2015 Jun. PMID 26316438, Free PMC Article
    3. Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase. Heslegrave AJ, et al. Orphanet J Rare Dis, 2012 May 14. PMID 22583614, Free PMC Article
    4. Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro. Velasco K, et al. J Inherit Metab Dis, 2021 Jan. PMID 32876354
    5. Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. Martins E, et al. J Inherit Metab Dis, 2011 Jun. PMID 21347589

    See all (91) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Abnormal expression of HADH, an enzyme of fatty acid oxidation, affects tumor development and prognosis (Review).
      Title: Abnormal expression of HADH, an enzyme of fatty acid oxidation, affects tumor development and prognosis (Review).
    2. Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.
      Title: Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.
    3. Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
      Title: Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
    4. Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.
      Title: Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.
    5. The most frequently seen mutations in Turkish patients with congenital hyperinsulinism (CHI) were ATP binding cassette subfamily C member 8 (ABCC8) gene, followed by 3-hydroxyacyl CoA dehydrogenase (HADH) and kcnj11 channel (KCNJ11) genes.
      Title: Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.
    6. Paretic muscle in hemiparetic stroke survivors had lower HAD concentration.
      Title: Skeletal muscle fiber characteristics and oxidative capacity in hemiparetic stroke survivors.
    7. We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c.636+471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression
      Title: A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.
    8. in a cohort of hyperinsulinemic hypoglycemia patients from Isfahan, Iran, 78% were noted to have disease-causing mutations: 48% had HADH mutations and 26% had ABCC8 mutations.
      Title: Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
    9. Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
      Title: Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
    10. Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (HADH) cause leucine sensitive hyperinsulinaemic hypoglycaemia.
      Title: Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr regulates mitochondrial respiration and enhances the activity of hydroxyacyl-CoA dehydrogenase (HADH) through PPARbeta/delta PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8392

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-hydroxyacyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-hydroxyacyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables NAD+ binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid beta-oxidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of insulin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
    Names
    L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain
    medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase
    short-chain 3-hydroxyacyl-CoA dehydrogenase
    testis secretory sperm-binding protein Li 203a
    NP_001171634.3
    NP_001317956.2
    NP_005318.6

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008156.3 RefSeqGene

      Range
      5002..50284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184705.4 → NP_001171634.3  hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC114733, AC118062
      Consensus CDS
      CCDS54790.1
      UniProtKB/TrEMBL
      A0A0A0MSE2
      Related
      ENSP00000474560.1, ENST00000603302.5
      Conserved Domains (1) summary
      COG1250
      Location:27 → 330
      FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]

    2. NM_001331027.2 → NP_001317956.2  hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in isoform (3), with a distinct N-terminus and a missing internal segment, compared to isoform 1.
      Source sequence(s)
      AC118062
      Consensus CDS
      CCDS82943.1
      UniProtKB/TrEMBL
      A0A0D9SFP2, B3KTT6
      Related
      ENSP00000486771.1, ENST00000626637.2
      Conserved Domains (1) summary
      COG1250
      Location:48 → 317
      FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]

    3. NM_005327.7 → NP_005318.6  hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC114733, AC118062
      Consensus CDS
      CCDS3678.1
      UniProtKB/Swiss-Prot
      J3KQ17, O00324, O00397, O00753, Q16836, Q4W5B4
      UniProtKB/TrEMBL
      A0A140VK76, B2RB06
      Related
      ENSP00000312288.4, ENST00000309522.8
      Conserved Domains (1) summary
      COG1250
      Location:27 → 313
      FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      107989889..108035171
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007096395.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      111292223..111337508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008486973.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16836.3 GenPept UniProtKB/Swiss-Prot:Q16836

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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