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

Gene ID: 54890, updated on 11-Apr-2024

Summary

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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
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Genomic context

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See ALKBH5 in Genome Data Viewer
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_000017.11Genomic Context describing neighboring genes Neighboring gene myosin XVA Neighboring gene uncharacterized LOC124903944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18053522-18054022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18056260-18056783 Neighboring gene uncharacterized LOC105371567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18070429-18070930 Neighboring gene Sharpr-MPRA regulatory region 12190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18087137-18087974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18133833-18134668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18134669-18135502 Neighboring gene LLGL scribble cell polarity complex component 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18150319-18150870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18151421-18151970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18160018-18160684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11833 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18161423-18161924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18164285-18164905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18164906-18165525 Neighboring gene FLII actin remodeling protein Neighboring gene mitochondrial elongation factor 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. ALKBH5 inhibits the SIRT3/ACC1 axis to regulate fatty acid metabolism via an m6A-IGF2BP1-dependent manner in cervical squamous cell carcinoma. Zhen L, et al. Clin Exp Pharmacol Physiol, 2023 May. PMID 36705046
  2. Impact of m6A demethylase (ALKBH5, FTO) genetic polymorphism and expression levels on the development of pulmonary tuberculosis. Zhang TP, et al. Front Cell Infect Microbiol, 2022. PMID 36619747, Free PMC Article
  3. ALKBH5 attenuates mitochondrial fission and ameliorates liver fibrosis by reducing Drp1 methylation. Wang J, et al. Pharmacol Res, 2023 Jan. PMID 36566000
  4. The N6-Methyladenosine Regulator ALKBH5 Mediated Stromal Cell-Macrophage Interaction via VEGF Signaling to Promote Recurrent Spontaneous Abortion: A Bioinformatic and In Vitro Study. Zhao Y, et al. Int J Mol Sci, 2022 Dec 13. PMID 36555463, Free PMC Article
  5. ALKBH5 Expression could Affect the Function of T Cells in Systemic Lupus Erythematosus Patients: A Case-control Study. Deng LJ, et al. Curr Pharm Des, 2022. PMID 35718974

See all (125) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. ALKBH5 regulates paclitaxel resistance in NSCLC via inhibiting CEMIP-mediated EMT.
    Title: ALKBH5 regulates paclitaxel resistance in NSCLC via inhibiting CEMIP-mediated EMT.
  4. 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.
  5. The N6-methyladenosine demethylase ALKBH5 regulates the hypoxic HBV transcriptome.
    Title: The N6-methyladenosine demethylase ALKBH5 regulates the hypoxic HBV transcriptome.
  6. 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.
  7. 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.
  8. 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.
  9. ALKBH5 is a prognostic factor and promotes the angiogenesis of glioblastoma.
    Title: ALKBH5 is a prognostic factor and promotes the angiogenesis of glioblastoma.
  10. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20308

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 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

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.

mRNA and Protein(s)

  1. NM_017758.4 → NP_060228.3  RNA demethylase ALKBH5

    See identical proteins and their annotated locations for NP_060228.3

    Status: VALIDATED

    Source sequence(s)
    AK000315, BC062339, BI823385, BU740432
    Consensus CDS
    CCDS42272.1
    UniProtKB/Swiss-Prot
    B4DVJ4, D3DXC6, Q6P6C2, Q9NXD6
    Related
    ENSP00000382091.4, ENST00000399138.5
    Conserved Domains (1) summary
    cl21496
    Location:136 → 270
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    18183828..18209954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    18130641..18156760
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P6C2.2 GenPept UniProtKB/Swiss-Prot:Q6P6C2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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