ALKBH5 alkB homolog 5, RNA demethylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALKBH5provided by HGNC
Official Full Name: alkB homolog 5, RNA demethylaseprovided by HGNC
Primary source: HGNC:HGNC:25996
See related: Ensembl:ENSG00000091542 MIM:613303; AllianceGenome:HGNC:25996
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: ABH5; OFOXD; OFOXD1
Summary: Enables mRNA N6-methyladenosine dioxygenase activity. Involved in RNA metabolic process; mRNA export from nucleus; and response to hypoxia. Located in Golgi apparatus; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 46.1), heart (RPKM 30.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p11.2; 17p11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (18183828..18209954)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (18130641..18156760)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (18087142..18113268)

Chromosome 17 - NC_000017.11 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?

Hypoxia-induced ALKBH5 aggravates synovial aggression and inflammation in rheumatoid arthritis by regulating the m6A modification of CH25H.
Title: Hypoxia-induced ALKBH5 aggravates synovial aggression and inflammation in rheumatoid arthritis by regulating the m6A modification of CH25H.
ALKBH5 facilitates the progression of skin cutaneous melanoma via mediating ABCA1 demethylation and modulating autophagy in an m[6]A-dependent manner.
Title: ALKBH5 facilitates the progression of skin cutaneous melanoma via mediating ABCA1 demethylation and modulating autophagy in an m(6)A-dependent manner.
ALKBH5 regulates paclitaxel resistance in NSCLC via inhibiting CEMIP-mediated EMT.
Title: ALKBH5 regulates paclitaxel resistance in NSCLC via inhibiting CEMIP-mediated EMT.
ALKBH5 Suppresses Autophagy in Prostate Cancer Cells via Inhibiting m6A-Modification of TSPAN1 mRNA.
Title: ALKBH5 Suppresses Autophagy in Prostate Cancer Cells via Inhibiting m6A-Modification of TSPAN1 mRNA.
The N6-methyladenosine demethylase ALKBH5 regulates the hypoxic HBV transcriptome.
Title: The N6-methyladenosine demethylase ALKBH5 regulates the hypoxic HBV transcriptome.
M[6]A demethylase ALKBH5 regulates FOXO1 mRNA stability and chemoresistance in triple-negative breast cancer.
Title: M(6)A demethylase ALKBH5 regulates FOXO1 mRNA stability and chemoresistance in triple-negative breast cancer.
Deficiency of N6-Methyladenosine Demethylase ALKBH5 Alleviates Ultraviolet B Radiation-Induced Chronic Actinic Dermatitis via Regulating Pyroptosis.
Title: Deficiency of N6-Methyladenosine Demethylase ALKBH5 Alleviates Ultraviolet B Radiation-Induced Chronic Actinic Dermatitis via Regulating Pyroptosis.
The promotive role of lncRNA MIR205HG in proliferation, invasion, and migration of melanoma cells via the JMJD2C/ALKBH5 axis.
Title: The promotive role of lncRNA MIR205HG in proliferation, invasion, and migration of melanoma cells via the JMJD2C/ALKBH5 axis.
ALKBH5 is a prognostic factor and promotes the angiogenesis of glioblastoma.
Title: ALKBH5 is a prognostic factor and promotes the angiogenesis of glioblastoma.
EGFR promotes ALKBH5 nuclear retention to attenuate N6-methyladenosine and protect against ferroptosis in glioblastoma.
Title: EGFR promotes ALKBH5 nuclear retention to attenuate N6-methyladenosine and protect against ferroptosis in glioblastoma.

Submit: New GeneRIF Correction See all GeneRIFs (106)

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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

D17S976 (e-PCR)
- UniSTS:148747

RH75515 (e-PCR)
- UniSTS:84097

STS-H01962 (e-PCR)
- UniSTS:63662

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2-oxoglutarate-dependent dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables mRNA N6-methyladenosine dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular condensate scaffold activity	IDA Inferred from Direct Assay more info	PubMed
enables oxidative RNA demethylase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in gamma-delta T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in mRNA destabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA destabilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-membrane-bounded organelle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in paraspeckles	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: RNA demethylase ALKBH5

Names: AlkB family member 5, RNA demethylase; alkB, alkylation repair homolog 5; alkylated DNA repair protein alkB homolog 5; alpha-ketoglutarate-dependent dioxygenase alkB homolog 5; oxoglutarate and iron-dependent oxygenase domain containing; probable alpha-ketoglutarate-dependent dioxygenase ABH5

NP_060228.3

EC 1.14.11.53

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.