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

Gene ID: 3033, updated on 13-Feb-2019

Summary

Official Symbol
HADHprovided by HGNC
Official Full Name
hydroxyacyl-CoA dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:4799
See related
Ensembl:ENSG00000138796 MIM:601609
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

Genomic context

See HADH in Genome Data Viewer
Location:
4q25
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (107989714..108035175)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (108910870..108956331)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929595 Neighboring gene sphingomyelin synthase 2 Neighboring gene RNA, U6 small nuclear 733, pseudogene Neighboring gene uncharacterized LOC107986298 Neighboring gene uncharacterized LOC107986299 Neighboring gene cytochrome P450 family 2 subfamily U member 1 Neighboring gene lymphoid enhancer binding factor 1 Neighboring gene LEF1 antisense RNA 1 Neighboring gene uncharacterized LOC107986300

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
MedGen: C1291230 OMIM: 231530 GeneReviews: Not available
Compare labs
Hyperinsulinemic hypoglycemia, familial, 4
MedGen: C1864948 OMIM: 609975 GeneReviews: Familial Hyperinsulinism
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8392

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-hydroxyacyl-CoA dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
NAD+ binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
fatty acid beta-oxidation TAS
Traceable Author Statement
more info
 
negative regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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_001171634.2
NP_001317956.1
NP_005318.3

NCBI Reference Sequences (RefSeq)

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_008156.2 RefSeqGene

    Range
    4931..50392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184705.2NP_001171634.2  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, AF001903, AI017358
    Consensus CDS
    CCDS54790.1
    UniProtKB/Swiss-Prot
    Q16836
    Related
    ENSP00000474560.1, ENST00000603302.5
    Conserved Domains (3) summary
    COG1250
    Location:27330
    FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]
    pfam00725
    Location:216330
    3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
    pfam02737
    Location:29214
    3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain
  2. NM_001331027.1NP_001317956.1  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)
    AI017358, AK096018
    Consensus CDS
    CCDS82943.1
    UniProtKB/TrEMBL
    B3KTT6
    Related
    ENSP00000486771.1, ENST00000626637.1
    Conserved Domains (1) summary
    COG1250
    Location:48317
    FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]
  3. NM_005327.4NP_005318.3  hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_005318.3

    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)
    AC118062, AF001903, AI017358, X96752
    Consensus CDS
    CCDS3678.1
    UniProtKB/Swiss-Prot
    Q16836
    Related
    ENSP00000312288.3, ENST00000309522.7
    Conserved Domains (3) summary
    COG1250
    Location:27313
    FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid transport and metabolism]
    pfam00725
    Location:216313
    3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
    pfam02737
    Location:29214
    3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    107989714..108035175
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002959727.1 RNA Sequence

    Related
    ENST00000640201.1
  2. XR_001741214.2 RNA Sequence

    Related
    ENST00000639146.1
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