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 and molecular condensate scaffold activity. Involved in membraneless organelle assembly; post-transcriptional regulation of gene expression; and response to hypoxia. Acts upstream of or within regulation of mRNA export from nucleus and regulation of mRNA processing. Located in Golgi apparatus; cytosol; and nuclear speck. Is active in paraspeckles. [provided by Alliance of Genome Resources, Dec 2024]
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_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (18183828..18209954)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (18130641..18156760)
RS_2024_09	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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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ALKBH5 governs human endoderm fate by regulating the DKK1/4-mediated Wnt/beta-catenin activation.
Title: ALKBH5 governs human endoderm fate by regulating the DKK1/4-mediated Wnt/β-catenin activation.
ALKBH5 Regulates Osteogenic Differentiation via the lncRNA/mRNA Complex.
Title: ALKBH5 Regulates Osteogenic Differentiation via the lncRNA/mRNA Complex.
ALKBH5 Regulates Corneal Neovascularization by Mediating FOXM1 M6A Demethylation.
Title: ALKBH5 Regulates Corneal Neovascularization by Mediating FOXM1 M6A Demethylation.
ALKBH5 promotes hepatocellular carcinoma cell proliferation, migration and invasion by regulating TTI1 expression.
Title: ALKBH5 promotes hepatocellular carcinoma cell proliferation, migration and invasion by regulating TTI1 expression.
ALKBH5 modulation of ferroptosis in recurrent miscarriage: implications in cytotrophoblast dysfunction.
Title: ALKBH5 modulation of ferroptosis in recurrent miscarriage: implications in cytotrophoblast dysfunction.
ALKBH5 facilitates the progression of infantile hemangioma by increasing FOXF1 expression in a m[6]A-YTHDF2 dependent manner to activate HK-2 signaling.
Title: ALKBH5 facilitates the progression of infantile hemangioma by increasing FOXF1 expression in a m(6)A-YTHDF2 dependent manner to activate HK-2 signaling.
N[6]-methyladenosine demethylase ALKBH5 suppresses malignancy of esophageal cancer by regulating microRNA biogenesis and RAI1 expression.
Title: N(6)-methyladenosine demethylase ALKBH5 suppresses malignancy of esophageal cancer by regulating microRNA biogenesis and RAI1 expression.
Branch Chain Amino Acid Metabolism Promotes Brain Metastasis of NSCLC through EMT Occurrence by Regulating ALKBH5 activity.
Title: Branch Chain Amino Acid Metabolism Promotes Brain Metastasis of NSCLC through EMT Occurrence by Regulating ALKBH5 activity.
ALKBH5-mediated m6A modification of circFOXP1 promotes gastric cancer progression by regulating SOX4 expression and sponging miR-338-3p.
Title: ALKBH5-mediated m6A modification of circFOXP1 promotes gastric cancer progression by regulating SOX4 expression and sponging miR-338-3p.
ALKBH5 promotes non-small cell lung cancer progression and susceptibility to anti-PD-L1 therapy by modulating interactions between tumor and macrophages.
Title: ALKBH5 promotes non-small cell lung cancer progression and susceptibility to anti-PD-L1 therapy by modulating interactions between tumor and macrophages.

Submit: New GeneRIF Correction See all GeneRIFs (120)

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 processing	IEA Inferred from Electronic Annotation more info
involved_in membraneless organelle assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of mRNA export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of mRNA processing	IMP Inferred from Mutant Phenotype 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.