Alkbh1 alkB homolog 1, histone H2A dioxygenase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Alkbh1provided by MGI
Official Full Name: alkB homolog 1, histone H2A dioxygenaseprovided by MGI
Primary source: MGI:MGI:2384034
See related: Ensembl:ENSMUSG00000079036 AllianceGenome:MGI:2384034
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Abh; alkB; hABH; Alkbh; 2700073G19Rik
Summary: Enables chemoattractant activity and oxidative DNA demethylase activity. Involved in DNA demethylation and tRNA demethylation. Acts upstream of or within several processes, including generation of neurons; negative regulation of neuron apoptotic process; and placenta development. Located in euchromatin. Is expressed in several structures, including branchial arch; central nervous system; gonad; hemolymphoid system gland; and limb bud. Orthologous to human ALKBH1 (alkB homolog 1, histone H2A dioxygenase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in limb E14.5 (RPKM 17.2), CNS E11.5 (RPKM 14.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 D2; 12 41.65 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (87474847..87490609, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (87428077..87443839, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The N[6]-methyladenine DNA demethylase ALKBH1 promotes gastric carcinogenesis by disrupting NRF1 binding capacity.
Title: The N(6)-methyladenine DNA demethylase ALKBH1 promotes gastric carcinogenesis by disrupting NRF1 binding capacity.
DNA 6mA Demethylase ALKBH1 Orchestrates Fatty Acid Metabolism and Suppresses Diet-Induced Hepatic Steatosis.
Title: DNA 6mA Demethylase ALKBH1 Orchestrates Fatty Acid Metabolism and Suppresses Diet-Induced Hepatic Steatosis.
Alkbh1-mediated DNA N6-methyladenine modification regulates bone marrow mesenchymal stem cell fate during skeletal aging.
Title: Alkbh1-mediated DNA N6-methyladenine modification regulates bone marrow mesenchymal stem cell fate during skeletal aging.
ALKBH1-demethylated DNA N6-methyladenine modification triggers vascular calcification via osteogenic reprogramming in chronic kidney disease.
Title: ALKBH1-demethylated DNA N6-methyladenine modification triggers vascular calcification via osteogenic reprogramming in chronic kidney disease.
Mammalian ALKBH1 serves as an N(6)-mA demethylase of unpairing DNA.
Title: Mammalian ALKBH1 serves as an N(6)-mA demethylase of unpairing DNA.
The lack of ALKBH1 affected the expression of developmentally important miRNAs, which are involved in the regulation of NANOG, SOX2 and neural differentiation.
Title: Role of ALKBH1 in the Core Transcriptional Network of Embryonic Stem Cells.
ALKBH1's role in class switch recombination and abasic site cleavage during base excision repair
Title: ALKBH1 is dispensable for abasic site cleavage during base excision repair and class switch recombination.
Results suggest that ALKBH1 is involved in neural development by modifying the methylation status of histone H2A.
Title: ALKBH1 is a histone H2A dioxygenase involved in neural differentiation.
The study reports a remarkable >1000-fold upregulation of individual piRNAs in pachytene spermatocytes isolated from Alkbh1-deficient murine testes.
Title: Alkbh1 and Tzfp repress a non-repeat piRNA cluster in pachytene spermatocytes.
Data suggest that Alkbh1 mediates gene regulation in spermatogenesis, and that Alkbh1 is essential for normal sex-ratio distribution and embryonic development.
Title: Mice lacking Alkbh1 display sex-ratio distortion and unilateral eye defects.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (6) 1 citation
Endonuclease-mediated (3)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236916

NoName (e-PCR)
- UniSTS:492009

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2-oxoglutarate-dependent dioxygenase activity	ISO Inferred from Sequence Orthology more info
enables broad specificity oxidative DNA demethylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables broad specificity oxidative DNA demethylase activity	IDA Inferred from Direct Assay more info	PubMed
enables broad specificity oxidative DNA demethylase activity	ISO Inferred from Sequence Orthology more info
enables chemoattractant activity	IDA Inferred from Direct Assay more info	PubMed
enables class I DNA-(apurinic or apyrimidinic site) endonuclease activity	ISO Inferred from Sequence Orthology more info
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferrous iron binding	ISO Inferred from Sequence Orthology more info
enables oxidative RNA demethylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxidative RNA demethylase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	ISO Inferred from Sequence Orthology more info
enables tRNA demethylase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within developmental growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuron migration	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in oxidative RNA demethylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in oxidative RNA demethylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression, epigenetic	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression, epigenetic	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial translation	ISO Inferred from Sequence Orthology more info
involved_in regulation of translational elongation	ISO Inferred from Sequence Orthology more info
involved_in regulation of translational initiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of translational initiation by tRNA modification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translational initiation by tRNA modification	ISO Inferred from Sequence Orthology more info
involved_in tRNA wobble cytosine modification	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
part_of euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: nucleic acid dioxygenase ALKBH1

Names: Alkylated DNA repair protein alkB homolog 1; DNA 6mA demethylase; DNA N6-methyl adenine demethylase ALKBH1; DNA demethylase ALKBH1; DNA lyase ABH1; DNA oxidative demethylase ALKBH1; alkB, alkylation repair homolog 1; alpha-ketoglutarate-dependent dioxygenase ABH1; mRNA N(3)-methylcytidine demethylase; tRNA N1-methyl adenine demethylase

NP_001096035.1

EC 1.14.11.33

EC 1.14.11.51

EC 4.2.99.18

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.