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

    Gene ID: 54890, updated on 9-Dec-2024

    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 non-membrane-bounded 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
    NEW
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    Genomic context

    See ALKBH5 in Genome Data Viewer
    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_000017.11Genomic 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20308

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_017758.4NP_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:136270
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)