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

Gene ID: 3033, updated on 17-Feb-2015
Official Symbol
HADHprovided by HGNC
Official Full Name
hydroxyacyl-CoA dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:4799
See related
Ensembl:ENSG00000138796; MIM:601609; Vega:OTTHUMG00000131810
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]
Orthologs
See HADH in MapViewer
Location:
4q22-q26
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 LOC102724049 Neighboring gene uncharacterized LOC101929595 Neighboring gene sphingomyelin synthase 2 Neighboring gene cytochrome P450, family 2, subfamily U, polypeptide 1 Neighboring gene lymphoid enhancer-binding factor 1 Neighboring gene LEF1 antisense RNA 1 Neighboring gene zinc-activated ligand-gated ion channel-like Neighboring gene ribosomal protein SA pseudogene 34

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC8392

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-hydroxyacyl-CoA dehydrogenase activity TAS
Traceable Author Statement
more info
 
NAD+ binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
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
 
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
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
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
 
Preferred Names
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
Names
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain
medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase
short-chain 3-hydroxyacyl-CoA dehydrogenase
NP_001171634.2
NP_005318.3

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, ENST00000603302
    Conserved Domains (3) summary
    COG1250
    Location:27330
    FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid 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_005327.4NP_005318.3  hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor

    See proteins identical to 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, OTTHUMP00000162625, ENST00000309522, OTTHUMT00000254750
    Conserved Domains (3) summary
    COG1250
    Location:27313
    FadB; 3-hydroxyacyl-CoA dehydrogenase [Lipid 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005262972.1XP_005263029.1  

    UniProtKB/TrEMBL
    E9PF18
    Related
    ENSP00000425952, OTTHUMP00000219688, ENST00000505878, OTTHUMT00000363711
    Conserved Domains (3) summary
    PLN02545
    Location:25317
    PLN02545; 3-hydroxybutyryl-CoA dehydrogenase
    pfam00725
    Location:220317
    3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
    pfam02737
    Location:48218
    3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    108887327..108932780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000136.1 Alternate HuRef

    Range
    104642283..104687973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)