• Gene id: 26002

Gene Summary

• Gene Symbol: MOXD1   Gene   UCSC   Ensembl
• Aliases: MOX, PRO5780, dJ248E1.1
• Gene name: monooxygenase DBH like 1
• Alternate names: DBH-like monooxygenase protein 1, dopamine-oxygenase, monooxygenase X,
• Gene location: 6q23.2 (132401519: 132296054)     Exons: 12     NC_000006.12
• OMIM: 104240

Protein Summary

• Protein general information: Q6UVY6  
  • Name: DBH like monooxygenase protein 1 (EC 1.14.17. ) (Monooxygenase X)
  • Length: 613  
  • Mass: 69652
  • Tissue specificity: Highly expressed in lung, kidney, brain and spinal cord. {ECO
• Sequence:

  MCCWPLLLLWGLLPGTAAGGSGRTYPHRTLLDSEGKYWLGWSQRGSQIAFRLQVRTAGYVGFGFSPTGAMASADI
  VVGGVAHGRPYLQDYFTNANRELKKDAQQDYHLEYAMENSTHTIIEFTRELHTCDINDKSITDSTVRVIWAYHHE
  DAGEAGPKYHDSNRGTKSLRLLNPEKTSVLSTALPYFDLVNQDVPIPNKDTTYWCQMFKIPVFQEKHHVIKVEPV
  IQRGHESLVHHILLYQCSNNFNDSVLESGHECYHPNMPDAFLTCETVIFAWAIGGEGFSYPPHVGLSLGTPLDPH
  YVLLEVHYDNPTYEEGLIDNSGLRLFYTMDIRKYDAGVIEAGLWVSLFHTIPPGMPEFQSEGHCTLECLEEALEA
  EKPSGIHVFAVLLHAHLAGRGIRLRHFRKGKEMKLLAYDDDFDFNFQEFQYLKEEQTILPGDNLITECRYNTKDR
  AEMTWGGLSTRSEMCLSYLLYYPRINLTRCASIPDIMEQLQFIGVKEIYRPVTTWPFIIKSPKQYKNLSFMDAMN
  KFKWTKKEGLSFNKLVLSLPVNVRCSKTDNAEWSIQGMTALPPDIERPYKAEPLVCGTSSSSSLHRDFSINLLVC
  LLLLSCTLSTKSL

• Structural information:
  • Protein Domains: (35..14-)
    (/note="DOMON-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00246"-)
  • Interpro: IPR014784  IPR000323  IPR036939  IPR024548  IPR005018   IPR028463  IPR008977  IPR028460  
  • Prosite: PS50836
  • STRING: ENSP00000356940
• Other Databases: GeneCards:  MOXD1  Malacards:  MOXD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0042421	norepinephrine biosynthetic process	IBA	biological process
GO:0030667	secretory granule membrane	IBA	cellular component
GO:0006589	octopamine biosynthetic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0042420	dopamine catabolic process	IBA	biological process
GO:0016715	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0005507	copper ion binding	IBA	molecular function
GO:0004500	dopamine beta-monooxygenase activity	IBA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004500	dopamine beta-monooxygenase activity	IEA	molecular function
GO:0005507	copper ion binding	IEA	molecular function
GO:0016715	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase 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:0005789	endoplasmic reticulum membrane	IEA	cellular component

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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R