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ALKBH6 alkB homolog 6 [ Homo sapiens (human) ]

Gene ID: 84964, updated on 3-Apr-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, Apr 2022]
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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Location:
19q13.12
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (36009120..36014239, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38554919..38560038, complement)
105.20220307 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
  • 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. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

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_2023_10

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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