• Gene id: 84266

Gene Summary

• Gene Symbol: ALKBH7   Gene   UCSC   Ensembl
• Aliases: ABH7, SPATA11, UNQ6002
• Gene name: alkB homolog 7
• Alternate names: alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial, alkB, alkylation repair homolog 7, alkylated DNA repair protein alkB homolog 7, probable alpha-ketoglutarate-dependent dioxygenase ABH7, spermatogenesis associated 11, spermatogenesis cel,
• Gene location: 19p13.3 (45550778: 45570050)     Exons: 11     NC_000001.11
• OMIM: 613305

Protein Summary

• Protein general information: Q9BT30  
  • Name: Alpha ketoglutarate dependent dioxygenase alkB homolog 7, mitochondrial (EC 1.14.11. ) (Alkylated DNA repair protein alkB homolog 7) (Spermatogenesis cell proliferation related protein) (Spermatogenesis associated protein 11)
  • Length: 221  
  • Mass: 24516
  • Tissue specificity: Widely expressed, with highest expression in pancreas, followed by spleen, prostate, ovary and placenta. {ECO
• Sequence:

  MAGTGLLALRTLPGPSWVRGSGPSVLSRLQDAAVVRPGFLSTAEEETLSRELEPELRRRRYEYDHWDAAIHGFRE
  TEKSRWSEASRAILQRVQAAAFGPGQTLLSSVHVLDLEARGYIKPHVDSIKFCGATIAGLSLLSPSVMRLVHTQE
  PGEWLELLLEPGSLYILRGSARYDFSHEILRDEESFFGERRIPRGRRISVICRSLPEGMGPGESGQPPPAC

• Structural information:
  • Interpro: IPR027450  IPR037151  IPR032870  
  • PDB: 4QKB 4QKD 4QKF
  • PDBsum: 4QKB 4QKD 4QKF
  • STRING: ENSP00000245812
• Other Databases: GeneCards:  ALKBH7  Malacards:  ALKBH7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0010883	regulation of lipid storage	ISS	biological process
GO:0006631	fatty acid metabolic process	ISS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:1902445	regulation of mitochondrial membrane permeability involved in programmed necrotic cell death	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0012501	programmed cell death	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	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:0005759	mitochondrial matrix	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0010883	regulation of lipid storage	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:1902445	regulation of mitochondrial membrane permeability involved in programmed necrotic cell death	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Non obstructive azoospermia	MIK: 24012201
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray