• Gene id: 54784

Gene Summary

• Gene Symbol: ALKBH4   Gene   UCSC   Ensembl
• Aliases: ABH4
• Gene name: alkB homolog 4, lysine demethylase
• Alternate names: alpha-ketoglutarate-dependent dioxygenase alkB homolog 4, DNA N6-methyl adenine demethylase ALKBH4, alkB homolog 4, lysine demthylase, alkB, alkylation repair homolog 4, alkylated DNA repair protein alkB homolog 4, lysine-specific demethylase ALKBH4, probable a,
• Gene location: 7q22.1 (102464862: 102456219)     Exons: 3     NC_000007.14
• OMIM: 612047

Protein Summary

• Protein general information: Q9NXW9  
  • Name: Alpha ketoglutarate dependent dioxygenase alkB homolog 4 (Alkylated DNA repair protein alkB homolog 4) (DNA N6 methyl adenine demethylase ALKBH4) (EC 1.14.11.51) (Lysine specific demethylase ALKBH4) (EC 1.14.11. )
  • Length: 302  
  • Mass: 33838
  • Tissue specificity: Widely expressed, with highest expression in pancreas, ovary and spleen. {ECO
• Sequence:

  MAAAAAETPEVLRECGCKGIRTCLICERQRGSDPPWELPPAKTYRFIYCSDTGWAVGTEESDFEGWAFPFPGVML
  IEDFVTREEEAELVRLMDRDPWKLSQSGRRKQDYGPKVNFRKQKLKTEGFCGLPSFSREVVRRMGLYPGLEGFRP
  VEQCNLDYCPERGSAIDPHLDDAWLWGERLVSLNLLSPTVLSMCREAPGSLLLCSAPSAAPEALVDSVIAPSRSV
  LCQEVEVAIPLPARSLLVLTGAARHQWKHAIHRRHIEARRVCVTFRELSAEFGPGGRQQELGQELLRIALSFQGR
  PV

• Structural information:
  • Protein Domains: (150..27-)
    (/note="Fe2OG-dioxygenase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00805"-)
  • Interpro: IPR037151  IPR032857  
  • STRING: ENSP00000292566
• Other Databases: GeneCards:  ALKBH4  Malacards:  ALKBH4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IBA	molecular function
GO:0031032	actomyosin structure organization	IBA	biological process
GO:0070938	contractile ring	IBA	cellular component
GO:0006482	protein demethylation	IBA	biological process
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0030496	midbody	IBA	cellular component
GO:0032451	demethylase activity	IBA	molecular function
GO:0070989	oxidative demethylation	IBA	biological process
GO:0070938	contractile ring	IDA	cellular component
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IDA	molecular function
GO:0003779	actin binding	IDA	molecular function
GO:0030496	midbody	IDA	cellular component
GO:0006482	protein demethylation	IDA	biological process
GO:0036090	cleavage furrow ingression	IMP	biological process
GO:0031032	actomyosin structure organization	IMP	biological process
GO:0035516	oxidative DNA demethylase activity	ISS	molecular function
GO:1902275	regulation of chromatin organization	ISS	biological process
GO:0080111	DNA demethylation	ISS	biological process
GO:0032451	demethylase activity	TAS	molecular function
GO:0070988	demethylation	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902275	regulation of chromatin organization	IEA	biological process
GO:0080111	DNA demethylation	IEA	biological process
GO:0035516	oxidative DNA demethylase activity	IEA	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
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
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R