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ADHFE1 alcohol dehydrogenase iron containing 1 [ Homo sapiens (human) ]

Gene ID: 137872, updated on 4-Oct-2020

Summary

Official Symbol
ADHFE1provided by HGNC
Official Full Name
alcohol dehydrogenase iron containing 1provided by HGNC
Primary source
HGNC:HGNC:16354
See related
Ensembl:ENSG00000147576 MIM:611083
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HOT; ADH8; HMFT2263
Summary
The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in heart (RPKM 16.3), fat (RPKM 15.2) and 25 other tissues See more
Orthologs

Genomic context

See ADHFE1 in Genome Data Viewer
Location:
8q13.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (66432504..66468907)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (67344693..67384260)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724687 Neighboring gene RRS1 antisense RNA 1 (head to head) Neighboring gene ribosome biogenesis regulator 1 homolog Neighboring gene TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene Neighboring gene RNA, U6 small nuclear 1324, pseudogene Neighboring gene vexin

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: VXN

Homology

Clone Names

  • FLJ32430, MGC48605

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alcohol dehydrogenase (NAD) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydroxyacid-oxoacid transhydrogenase activity EXP
Inferred from Experiment
more info
PubMed 
hydroxyacid-oxoacid transhydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
2-oxoglutarate metabolic process TAS
Traceable Author Statement
more info
 
glutamate catabolic process via 2-oxoglutarate IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
hydroxyacid-oxoacid transhydrogenase, mitochondrial
Names
Fe-containing alcohol dehydrogenase 1
alcohol dehydrogenase 8
alcohol dehydrogenase iron-containing protein 1
NP_653251.2

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.

mRNA and Protein(s)

  1. NM_144650.3NP_653251.2  hydroxyacid-oxoacid transhydrogenase, mitochondrial

    See identical proteins and their annotated locations for NP_653251.2

    Status: VALIDATED

    Source sequence(s)
    AC009879, AY033237, BG698892, BQ182872, CB157325
    Consensus CDS
    CCDS6190.2
    UniProtKB/Swiss-Prot
    Q8IWW8
    Related
    ENSP00000379865.3, ENST00000396623.8
    Conserved Domains (1) summary
    cd08190
    Location:51464
    HOT; Hydroxyacid-oxoacid transhydrogenase (HOT) involved in gamma-hydroxybutyrate metabolism

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    66432504..66468907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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