• Gene id: 253982

Gene Summary

• Gene Symbol: ASPHD1   Gene   UCSC   Ensembl
• Gene name: aspartate beta-hydroxylase domain containing 1
• Alternate names: aspartate beta-hydroxylase domain-containing protein 1,
• Gene location: 16p11.2 (29900391: 29920687)     Exons: 20     NC_000016.10

Protein Summary

• Protein general information: Q5U4P2  
  • Name: Aspartate beta hydroxylase domain containing protein 1 (EC 1.14.11. )
  • Length: 390  
  • Mass: 41128
• Sequence:

  MKEGRGSFSVERGPRKERETAQSGMWKGNSPAGSQGAAMEGTGGELGGQGNWGPEDAPGLLARASLIMLPWPLPL
  ASSALTLLFGALTSLFLWYCYRLGSQDMQALGAGSRAGGVRGGPVGCSEAGGPSPGGPGDPGEGPRTEGLVSRRL
  RAYARRYSWAGMGRVRRAAQGGPGPGRGPGVLGIQRPGLLFLPDLPSAPFVPRDAQRHDVELLESSFPAILRDFG
  AVSWDFSGTTPPPRGWSPPLAPGCYQLLLYQAGRCQPSNCRRCPGAYRALRGLRSFMSANTFGNAGFSVLLPGAR
  LEGRCGPTNARVRCHLGLKIPPGCELVVGGEPQCWAEGHCLLVDDSFLHTVAHNGSPEDGPRVVFIVDLWHPNVA
  GAERQALDFVFAPDP

• Structural information:
  • Interpro: IPR007803  IPR027443  
  • STRING: ENSP00000311447
• Other Databases: GeneCards:  ASPHD1  Malacards:  ASPHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018193	peptidyl-amino acid modification	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq