Alkb homolog 1, histone h2a dioxygenase

ALKBH1
Identifiers
Aliases	ALKBH1, ABH, ABH1, ALKBH, alkB, hABH, alkB homolog 1, histone H2A dioxygenase
External IDs	OMIM: 605345; MGI: 2384034; HomoloGene: 4393; GeneCards: ALKBH1; OMA:ALKBH1 - orthologs
EC number	4.2.99.18
Gene location (Human) Chr. Chromosome 14 (human) Band 14q24.3 Start 77,672,404 bp End 77,708,023 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12|12 D2 Start 87,472,610 bp End 87,490,787 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte testicle gonad endothelial cell right ventricle cartilage tissue jejunal mucosa gastrocnemius muscle embryo Top expressed in Paneth cell primitive streak spermatocyte hand embryo tail of embryo embryo otic vesicle genital tubercle epiblast 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 Species Human Mouse 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 Mb Chr 12: 87.47 – 87.49 Mb PubMed search
Wikidata
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AlkB homolog 1, histone H2A dioxygenase is a protein that in humans is encoded by the ALKBH1 gene.

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].

See also

• MGMT

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.

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