• Gene id: 8846

Gene Summary

• Gene Symbol: ALKBH1   Gene   UCSC   Ensembl
• Aliases: ABH, ABH1, ALKBH, alkB, hABH
• Gene name: alkB homolog 1, histone H2A dioxygenase
• Alternate names: nucleic acid dioxygenase ALKBH1, DNA 6mA demethylase, DNA N6-methyl adenine demethylase, DNA N6-methyl adenine demethylase ALKBH1, DNA demethylase ALKBH1, DNA lyase ABH1, DNA oxidative demethylase ALKBH1, alkB, alkylation repair homolog 1, alkylated DNA repair pr,
• Gene location: 14q24.3 (77708037: 77672403)     Exons: 6     NC_000014.9
• Gene summary(Entrez): 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-methyl

Protein Summary

• Protein general information: Q13686  
  • Name: Nucleic acid dioxygenase ALKBH1 (EC 1.14.11. ) (Alkylated DNA repair protein alkB homolog 1) (Alpha ketoglutarate dependent dioxygenase ABH1) (DNA 6mA demethylase) (DNA N6 methyl adenine demethylase ALKBH1) (EC 1.14.11.51) (DNA lyase ABH1) (EC 4.2.99.18)
  • Length: 389  
  • Mass: 43832
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MGKMAAAVGSVATLATEPGEDAFRKLFRFYRQSRPGTADLEGVIDFSAAHAARGKGPGAQKVIKSQLNVSSVSEQ
  NAYRAGLQPVSKWQAYGLKGYPGFIFIPNPFLPGYQWHWVKQCLKLYSQKPNVCNLDKHMSKEETQDLWEQSKEF
  LRYKEATKRRPRSLLEKLRWVTVGYHYNWDSKKYSADHYTPFPSDLGFLSEQVAAACGFEDFRAEAGILNYYRLD
  STLGIHVDRSELDHSKPLLSFSFGQSAIFLLGGLQRDEAPTAMFMHSGDIMIMSGFSRLLNHAVPRVLPNPEGEG
  LPHCLEAPLPAVLPRDSMVEPCSMEDWQVCASYLKTARVNMTVRQVLATDQNFPLEPIEDEKRDISTEGFCHLDD
  QNSEVKRARINPDS

• Structural information:
  • Protein Domains: (208..34-)
    (/note="Fe2OG-dioxygenase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00805"-)
  • Interpro: IPR004574  IPR027450  IPR037151  IPR005123  
  • Prosite: PS51471
  • PDB: 6IE2 6IE3
  • PDBsum: 6IE2 6IE3
  • STRING: ENSP00000216489
• Other Databases: GeneCards:  ALKBH1  Malacards:  ALKBH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0005719	nuclear euchromatin	IBA	cellular component
GO:0070579	methylcytosine dioxygenase activity	IDA	molecular function
GO:0042245	RNA repair	IDA	biological process
GO:0006281	DNA repair	IDA	biological process
GO:0006281	DNA repair	IDA	biological process
GO:0080111	DNA demethylation	IDA	biological process
GO:0070989	oxidative demethylation	IDA	biological process
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0006307	DNA dealkylation involved in DNA repair	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0140078	class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	molecular function
GO:1990983	tRNA demethylation	IDA	biological process
GO:0000049	tRNA binding	IDA	molecular function
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IDA	molecular function
GO:0035513	oxidative RNA demethylation	IDA	biological process
GO:1990984	tRNA demethylase activity	IDA	molecular function
GO:0002101	tRNA wobble cytosine modification	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0035515	oxidative RNA demethylase activity	IDA	molecular function
GO:0035516	oxidative DNA demethylase activity	IDA	molecular function
GO:0080111	DNA demethylation	IDA	biological process
GO:0006448	regulation of translational elongation	IMP	biological process
GO:0006446	regulation of translational initiation	IMP	biological process
GO:0070129	regulation of mitochondrial translation	IMP	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0042245	RNA repair	IEA	biological process
GO:0006417	regulation of translation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0140078	class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA	molecular function
GO:0103053	1-ethyladenine demethylase activity	IEA	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:1990983	tRNA demethylation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005719	nuclear euchromatin	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0035516	oxidative DNA demethylase activity	IEA	molecular function
GO:0042056	chemoattractant activity	IEA	molecular function
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0080111	DNA demethylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0050918	positive chemotaxis	IEA	biological process
GO:0035511	oxidative DNA demethylation	IEA	biological process
GO:0035511	oxidative DNA demethylation	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881