Alkb homolog 1, histone h2a dioxygenase

Protein-coding gene in the species Homo sapiens
ALKBH1
Identifiers
AliasesALKBH1, ABH, ABH1, ALKBH, alkB, hABH, alkB homolog 1, histone H2A dioxygenase
External IDsOMIM: 605345; MGI: 2384034; HomoloGene: 4393; GeneCards: ALKBH1; OMA:ALKBH1 - orthologs
EC number4.2.99.18
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for ALKBH1
Genomic location for ALKBH1
Band14q24.3Start77,672,404 bp[1]
End77,708,023 bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for ALKBH1
Genomic location for ALKBH1
Band12|12 D2Start87,472,610 bp[2]
End87,490,787 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • oocyte

  • secondary oocyte

  • endothelial cell

  • right ventricle

  • jejunal mucosa

  • gastrocnemius muscle

  • embryo

  • ganglionic eminence

  • mucosa of urinary bladder

  • left ventricle
Top expressed in
  • Paneth cell

  • primitive streak

  • spermatocyte

  • hand

  • yolk sac

  • ascending aorta

  • hair follicle

  • otolith organ

  • thymus

  • utricle
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • methylcytosine dioxygenase activity
  • dioxygenase activity
  • metal ion binding
  • catalytic activity
  • lyase activity
  • chemoattractant activity
  • oxidoreductase activity
  • ferrous iron binding
  • tRNA binding
  • 2-oxoglutarate-dependent dioxygenase activity
  • DNA-N1-methyladenine dioxygenase activity
  • tRNA demethylase activity
  • class I DNA-(apurinic or apyrimidinic site) endonuclease activity
  • DNA-(apurinic or apyrimidinic site) endonuclease activity
Cellular component
  • mitochondrion
  • nucleus
Biological process
  • negative regulation of neuron apoptotic process
  • cell differentiation
  • DNA dealkylation involved in DNA repair
  • placenta development
  • neuron migration
  • in utero embryonic development
  • cellular response to DNA damage stimulus
  • oxidative demethylation
  • developmental growth
  • regulation of gene expression
  • RNA repair
  • DNA demethylation
  • positive chemotaxis
  • metabolism
  • neuron projection development
  • DNA repair
  • regulation of translation
  • tRNA wobble cytosine modification
  • regulation of translational initiation
  • regulation of translational elongation
  • oxidative single-stranded DNA demethylation
  • regulation of mitochondrial translation
  • tRNA demethylation
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

8846

211064

Ensembl

ENSG00000100601

ENSMUSG00000079036

UniProt

Q13686

P0CB42

RefSeq (mRNA)

NM_001039506
NM_006020

NM_001102565

RefSeq (protein)

NP_006011

NP_001096035

Location (UCSC)Chr 14: 77.67 – 77.71 MbChr 12: 87.47 – 87.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AlkB homolog 1, histone H2A dioxygenase is a protein that in humans is encoded by the ALKBH1 gene. [5]

Function

This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008].

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100601 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000079036 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: AlkB homolog 1, histone H2A dioxygenase". Retrieved 2018-07-12.

Further reading

  • Aas PA, Otterlei M, Falnes PO, Vågbø CB, Skorpen F, Akbari M, Sundheim O, Bjørås M, Slupphaug G, Seeberg E, Krokan HE (February 2003). "Human and bacterial oxidative demethylases repair alkylation damage in both RNA and DNA". Nature. 421 (6925): 859–63. Bibcode:2003Natur.421..859A. doi:10.1038/nature01363. PMID 12594517. S2CID 4352520.
  • Westbye MP, Feyzi E, Aas PA, Vågbø CB, Talstad VA, Kavli B, Hagen L, Sundheim O, Akbari M, Liabakk NB, Slupphaug G, Otterlei M, Krokan HE (September 2008). "Human AlkB homolog 1 is a mitochondrial protein that demethylates 3-methylcytosine in DNA and RNA". J. Biol. Chem. 283 (36): 25046–56. doi:10.1074/jbc.M803776200. PMC 3259822. PMID 18603530.
  • Müller TA, Meek K, Hausinger RP (January 2010). "Human AlkB homologue 1 (ABH1) exhibits DNA lyase activity at abasic sites". DNA Repair (Amst.). 9 (1): 58–65. doi:10.1016/j.dnarep.2009.10.011. PMC 2818486. PMID 19959401.
  • Shankaracharya, Das S, Vidyarthi AS (September 2011). "Homology modeling and function prediction of hABH1, involving in repair of alkylation damaged DNA". Interdiscip Sci. 3 (3): 175–81. doi:10.1007/s12539-011-0087-4. PMID 21956739. S2CID 187339.
  • Müller TA, Andrzejak MM, Hausinger RP (June 2013). "A covalent protein-DNA 5'-product adduct is generated following AP lyase activity of human ALKBH1 (AlkB homologue 1)". Biochem. J. 452 (3): 509–18. doi:10.1042/BJ20121908. PMC 4126167. PMID 23577621.
  • Müller TA, Yu K, Hausinger RP, Meek K (2013). "ALKBH1 is dispensable for abasic site cleavage during base excision repair and class switch recombination". PLOS ONE. 8 (6): e67403. Bibcode:2013PLoSO...867403M. doi:10.1371/journal.pone.0067403. PMC 3692455. PMID 23825659.
  • Fedeles BI, Singh V, Delaney JC, Li D, Essigmann JM (August 2015). "The AlkB Family of Fe(II)/α-Ketoglutarate-dependent Dioxygenases: Repairing Nucleic Acid Alkylation Damage and Beyond". J. Biol. Chem. 290 (34): 20734–42. doi:10.1074/jbc.R115.656462. PMC 4543635. PMID 26152727.
  • Haag S, Sloan KE, Ranjan N, Warda AS, Kretschmer J, Blessing C, Hübner B, Seikowski J, Dennerlein S, Rehling P, Rodnina MV, Höbartner C, Bohnsack MT (October 2016). "NSUN3 and ABH1 modify the wobble position of mt-tRNAMet to expand codon recognition in mitochondrial translation" (PDF). EMBO J. 35 (19): 2104–2119. doi:10.15252/embj.201694885. PMC 5048346. PMID 27497299.
  • Liu F, Clark W, Luo G, Wang X, Fu Y, Wei J, Wang X, Hao Z, Dai Q, Zheng G, Ma H, Han D, Evans M, Klungland A, Pan T, He C (October 2016). "ALKBH1-Mediated tRNA Demethylation Regulates Translation". Cell. 167 (3): 816–828.e16. doi:10.1016/j.cell.2016.09.038. PMC 5119773. PMID 27745969.


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This article incorporates text from the United States National Library of Medicine, which is in the public domain.