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    ALKBH6 alkB homolog 6 [ Homo sapiens (human) ]

    Gene ID: 84964, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ALKBH6provided by HGNC
    Official Full Name
    alkB homolog 6provided by HGNC
    Primary source
    HGNC:HGNC:28243
    See related
    Ensembl:ENSG00000239382 MIM:613304; AllianceGenome:HGNC:28243
    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
    ABH6
    Summary
    Predicted to enable dioxygenase activity and metal ion binding activity. Located in focal adhesion and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 5.2), spleen (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ALKBH6 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (36009120..36014239, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38554919..38560038, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36500022..36505141, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10546 Neighboring gene succinate dehydrogenase complex assembly factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36498887-36499428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36499429-36499968 Neighboring gene spectrin repeat containing nuclear envelope family member 4 Neighboring gene uncharacterized LOC101927572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14514 Neighboring gene CAP-Gly domain containing linker protein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:36526501-36526674 Neighboring gene THAP domain containing 8 Neighboring gene RNY5 pseudogene 10

    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 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. Structural insights into the interactions and epigenetic functions of human nucleic acid repair protein ALKBH6. Ma L, et al. J Biol Chem, 2022 Mar. PMID 35120926, Free PMC Article
    2. Lysine methylation of VCP by a member of a novel human protein methyltransferase family. Kernstock S, et al. Nat Commun, 2012. PMID 22948820
    3. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article
    4. Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. Viard J, et al. Life Sci Alliance, 2022 Aug 1. PMID 35914814, Free PMC Article
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural insights into the interactions and epigenetic functions of human nucleic acid repair protein ALKBH6.
      Title: Structural insights into the interactions and epigenetic functions of human nucleic acid repair protein ALKBH6.
    Submit: New GeneRIF Correction

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC15677

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    alpha-ketoglutarate-dependent dioxygenase alkB homolog 6
    Names
    alkB, alkylation repair homolog 6
    alkylated DNA repair protein alkB homolog 6
    alkylation repair homolog 6
    probable alpha-ketoglutarate-dependent dioxygenase ABH6
    NP_001284630.1
    NP_001372984.1
    NP_001372985.1
    NP_116267.4
    NP_942567.1
    XP_047295523.1
    XP_054178416.1

    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_001297701.2 → NP_001284630.1  alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 isoform 3

      See identical proteins and their annotated locations for NP_001284630.1

      Status: VALIDATED

      Description
      Transcript Variant: Variants 2, 3, and 5 encode the same isoform (3).
      Source sequence(s)
      AB273714, AK304805, BQ447659
      Consensus CDS
      CCDS74342.1
      UniProtKB/Swiss-Prot
      A5LGM8, A6NLP1, A8MU96, Q3KRA9
      Related
      ENSP00000252984.6, ENST00000252984.11
      Conserved Domains (1) summary
      cl21496
      Location:23 → 224
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

    2. NM_001386055.1 → NP_001372984.1  alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: Variants 2, 3, and 5 encode the same isoform (3).
      Source sequence(s)
      AC002116, BX366961
      Consensus CDS
      CCDS74342.1
      UniProtKB/Swiss-Prot
      A5LGM8, A6NLP1, A8MU96, Q3KRA9
      Conserved Domains (1) summary
      cl21496
      Location:23 → 224
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

    3. NM_001386056.1 → NP_001372985.1  alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC002116, BE257397
      UniProtKB/TrEMBL
      B2RAE0
      Conserved Domains (1) summary
      cl21496
      Location:6 → 155
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

    4. NM_032878.5 → NP_116267.4  alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: Variants 2, 3, and 5 encode the same isoform (3).
      Source sequence(s)
      BC105801, BM713594, BU963363
      Consensus CDS
      CCDS74342.1
      UniProtKB/Swiss-Prot
      A5LGM8, A6NLP1, A8MU96, Q3KRA9
      Related
      ENSP00000368152.4, ENST00000378875.8
      Conserved Domains (1) summary
      cl21496
      Location:23 → 224
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

    5. NM_198867.1 → NP_942567.1  alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 isoform 1

      Status: VALIDATED

      Source sequence(s)
      BC007601, BM713594
      UniProtKB/TrEMBL
      B4E3P3
      Related
      ENSP00000436742.1, ENST00000485128.5
      Conserved Domains (1) summary
      cl21496
      Location:52 → 143
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      36009120..36014239 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439567.1 → XP_047295523.1  alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 isoform X1

      Related
      ENSP00000435496.1, ENST00000490986.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38554919..38560038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322441.1 → XP_054178416.1  alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3KRA9.2 GenPept UniProtKB/Swiss-Prot:Q3KRA9

    Gene LinkOut

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

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