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

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; AllianceGenome:HGNC:16354
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: mouse all
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Genomic context

Location:: 8q13.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (66432504..66468907)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (66858074..66894463)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (67344739..67381142)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Combined detection of SDC2/ADHFE1/PPP2R5C methylation in stool DNA for colorectal cancer screening.
Title: Combined detection of SDC2/ADHFE1/PPP2R5C methylation in stool DNA for colorectal cancer screening.
Genome-wide DNA methylation profiles of low- and high-grade adenoma reveals potential biomarkers for early detection of colorectal carcinoma.
Title: Genome-wide DNA methylation profiles of low- and high-grade adenoma reveals potential biomarkers for early detection of colorectal carcinoma.
data support the hypothesis that ADHFE1 and MYC signaling contribute to D-2HG accumulation in breast tumors and show that D-2HG is an oncogenic metabolite and potential driver of disease progression.
Title: ADHFE1 is a breast cancer oncogene and induces metabolic reprogramming.
These results demonstrate that the promoter hypermethylation of ADHFE1 is frequently present in CRC and alcohol induces methylation-mediated down expression of ADHFE1 and proliferation of CRC cells.
Title: Alcohol induces cell proliferation via hypermethylation of ADHFE1 in colorectal cancer cells.
ADHFE1 has an important role of differentiation in CRC, as well as normal colorectal mucosa and embryonic developmental processes.
Title: Alcohol dehydrogenase, iron containing, 1 promoter hypermethylation associated with colorectal cancer differentiation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
show that the ADHFe1 gene is related to bacterial GHB dehydrogenases and has a conserved NAD-binding site
Title: Enzymes involved in the metabolism of gamma-hydroxybutyrate in SH-SY5Y cells: identification of an iron-dependent alcohol dehydrogenase ADHFe1.
cloned and characterized an iron-activated alcohol dehydrogenase gene, Fe-containing alcohol dehydrogenase 1 (ADHFe1)
Title: Cloning and characterization of a novel human alcohol dehydrogenase gene (ADHFe1).

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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
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65944 (e-PCR)
- UniSTS:69718

SHGC-34586 (e-PCR)
- UniSTS:54693

ADHFE1_3092 (e-PCR)
- UniSTS:462017

G27361 (e-PCR)
- UniSTS:40409

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alcohol dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables hydroxyacid-oxoacid transhydrogenase activity	EXP Inferred from Experiment more info	PubMed
enables hydroxyacid-oxoacid transhydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in 2-oxoglutarate metabolic process	TAS Traceable Author Statement more info
involved_in glutamate catabolic process via 2-oxoglutarate	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: hydroxyacid-oxoacid transhydrogenase, mitochondrial

Names: Fe-containing alcohol dehydrogenase 1; alcohol dehydrogenase 8; alcohol dehydrogenase iron-containing protein 1

NP_653251.2

EC 1.1.99.24

NCBI Reference Sequences (RefSeq)

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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.