• Gene id: 29914

Gene Summary

• Gene Symbol: UBIAD1   Gene   UCSC   Ensembl
• Aliases: SCCD, TERE1
• Gene name: UbiA prenyltransferase domain containing 1
• Alternate names: ubiA prenyltransferase domain-containing protein 1, transitional epithelia response protein, transitional epithelial response protein 1,
• Gene location: 1p36.22 (7566874: 7609143)     Exons: 14     NC_000007.14
• Gene summary(Entrez): This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]
• OMIM: 611632

Protein Summary

• Protein general information: Q9Y5Z9  
  • Name: UbiA prenyltransferase domain containing protein 1 (EC 2.5.1. ) (Transitional epithelial response protein 1)
  • Length: 338  
  • Mass: 36831
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MAASQVLGEKINILSGETVKAGDRDPLGNDCPEQDRLPQRSWRQKCASYVLALRPWSFSASLTPVALGSALAYRS
  HGVLDPRLLVGCAVAVLAVHGAGNLVNTYYDFSKGIDHKKSDDRTLVDRILEPQDVVRFGVFLYTLGCVCAACLY
  YLSPLKLEHLALIYFGGLSGSFLYTGGIGFKYVALGDLIILITFGPLAVMFAYAIQVGSLAIFPLVYAIPLALST
  EAILHSNNTRDMESDREAGIVTLAILIGPTFSYILYNTLLFLPYLVFSILATHCTISLALPLLTIPMAFSLERQF
  RSQAFNKLPQRTAKLNLLLGLFYVFGIILAPAGSLPKI

• Structural information:
  • Interpro: IPR000537  IPR026046  
  • STRING: ENSP00000366006
• Other Databases: GeneCards:  UBIAD1  Malacards:  UBIAD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004659	prenyltransferase activity	IBA	molecular function
GO:0009234	menaquinone biosynthetic process	IBA	biological process
GO:0032194	ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate	IBA	biological process
GO:0042371	vitamin K biosynthetic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0030173	integral component of Golgi membrane	IBA	cellular component
GO:0030173	integral component of Golgi membrane	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0042371	vitamin K biosynthetic process	IDA	biological process
GO:0004659	prenyltransferase activity	IDA	molecular function
GO:0042371	vitamin K biosynthetic process	IMP	biological process
GO:0016209	antioxidant activity	IMP	molecular function
GO:0009234	menaquinone biosynthetic process	IMP	biological process
GO:0006744	ubiquinone biosynthetic process	IMP	biological process
GO:0004659	prenyltransferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016765	transferase activity, transferring alkyl or aryl (other than methyl) groups	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004659	prenyltransferase activity	IEA	molecular function
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0009234	menaquinone biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004659	prenyltransferase activity	EXP	molecular function
GO:0004659	prenyltransferase activity	EXP	molecular function
GO:0042373	vitamin K metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	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: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: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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0009234	menaquinone biosynthetic process	IEA	biological process
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component

Diseases

Associated diseases	References
Schnyder corneal dystrophy	KEGG:H00959
Schnyder corneal dystrophy	KEGG:H00959
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray