• Gene id: 54890

Gene Summary

• Gene Symbol: ALKBH5   Gene   UCSC   Ensembl
• Aliases: ABH5, OFOXD, OFOXD1
• Gene name: alkB homolog 5, RNA demethylase
• Alternate names: RNA demethylase ALKBH5, AlkB family member 5, RNA demethylase, alkB, alkylation repair homolog 5, alkylated DNA repair protein alkB homolog 5, alpha-ketoglutarate-dependent dioxygenase alkB homolog 5, oxoglutarate and iron-dependent oxygenase domain containing,
• Gene location: 17p11.2 (18183827: 18209953)     Exons: 4     NC_000017.11
• OMIM: 608532

Protein Summary

• Protein general information: Q6P6C2  
  • Name: RNA demethylase ALKBH5 (EC 1.14.11.53) (Alkylated DNA repair protein alkB homolog 5) (Alpha ketoglutarate dependent dioxygenase alkB homolog 5)
  • Length: 394  
  • Mass: 44256
  • Tissue specificity: Widely expressed, with highest expression in lung, followed by testis, pancreas, spleen and ovary. {ECO
• Sequence:

  MAAASGYTDLREKLKSMTSRDNYKAGSREAAAAAAAAVAAAAAAAAAAEPYPVSGAKRKYQEDSDPERSDYEEQQ
  LQKEEEARKVKSGIRQMRLFSQDECAKIEARIDEVVSRAEKGLYNEHTVDRAPLRNKYFFGEGYTYGAQLQKRGP
  GQERLYPPGDVDEIPEWVHQLVIQKLVEHRVIPEGFVNSAVINDYQPGGCIVSHVDPIHIFERPIVSVSFFSDSA
  LCFGCKFQFKPIRVSEPVLSLPVRRGSVTVLSGYAADEITHCIRPQDIKERRAVIILRKTRLDAPRLETKSLSSS
  VLPPSYASDRLSGNNRDPALKPKRSHRKADPDAAHRPRILEMDKEENRRSVLLPTHRRRGSFSSENYWRKSYESS
  EDCSEAAGSPARKVKMRRH

• Structural information:
  • Interpro: IPR027450  IPR037151  IPR032860  
  • PDB: 4NJ4 4NRM 4NRO 4NRP 4NRQ 4O61 4O7X 4OCT
  • PDBsum: 4NJ4 4NRM 4NRO 4NRP 4NRQ 4O61 4O7X 4OCT
  • STRING: ENSP00000382091
• Other Databases: GeneCards:  ALKBH5  Malacards:  ALKBH5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0035553	oxidative single-stranded RNA demethylation	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0035515	oxidative RNA demethylase activity	IEA	molecular function
GO:0035553	oxidative single-stranded RNA demethylation	IBA	biological process
GO:0035515	oxidative RNA demethylase activity	IBA	molecular function
GO:0006406	mRNA export from nucleus	IBA	biological process
GO:0006397	mRNA processing	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007283	spermatogenesis	IEA	biological process
GO:0035553	oxidative single-stranded RNA demethylation	IEA	biological process
GO:0043488	regulation of mRNA stability	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:1990931	RNA N6-methyladenosine dioxygenase activity	IEA	molecular function
GO:0016607	nuclear speck	IEA	cellular component
GO:0035553	oxidative single-stranded RNA demethylation	IDA	biological process
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IDA	molecular function
GO:0001666	response to hypoxia	IDA	biological process
GO:0035553	oxidative single-stranded RNA demethylation	IDA	biological process
GO:1990931	RNA N6-methyladenosine dioxygenase activity	IDA	molecular function
GO:0016607	nuclear speck	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:1990931	RNA N6-methyladenosine dioxygenase activity	IDA	molecular function
GO:0007283	spermatogenesis	ISS	biological process
GO:0006406	mRNA export from nucleus	IMP	biological process
GO:0006397	mRNA processing	IMP	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq