• Gene id: 116150

Gene Summary

• Gene Symbol: NUS1   Gene   UCSC   Ensembl
• Aliases: C6orf68, CDG1AA, MGC:7199, MRD55, NgBR, TANGO14
• Gene name: NUS1 dehydrodolichyl diphosphate synthase subunit
• Alternate names: dehydrodolichyl diphosphate synthase complex subunit NUS1, Nogo-B receptor, cis-prenyltransferase subunit NgBR, dehydrodolichyl diphosphate syntase complex subunit NUS1, di-trans,poly-cis-decaprenylcistransferase, nuclear undecaprenyl pyrophosphate synthase 1 ,
• Gene location: 6q22.1 (117675468: 117710726)     Exons: 5     NC_000006.12
• Gene summary(Entrez): This gene encodes a type I single transmembrane domain receptor, which is a subunit of cis-prenyltransferase, and serves as a specific receptor for the neural and cardiovascular regulator Nogo-B. The encoded protein is essential for dolichol synthesis and
• OMIM: 610463

Protein Summary

• Protein general information: Q96E22  
  • Name: Dehydrodolichyl diphosphate synthase complex subunit NUS1 (EC 2.5.1.87) (Cis prenyltransferase subunit NgBR) (Nogo B receptor) (NgBR) (Nuclear undecaprenyl pyrophosphate synthase 1 homolog)
  • Length: 293  
  • Mass: 33224
• Sequence:

  MTGLYELVWRVLHALLCLHRTLTSWLRVRFGTWNWIWRRCCRAASAAVLAPLGFTLRKPPAVGRNRRHHRHPRGG
  SCLAAAHHRMRWRADGRSLEKLPVHMGLVITEVEQEPSFSDIASLVVWCMAVGISYISVYDHQGIFKRNNSRLMD
  EILKQQQELLGLDCSKYSPEFANSNDKDDQVLNCHLAVKVLSPEDGKADIVRAAQDFCQLVAQKQKRPTDLDVDT
  LASLLSSNGCPDPDLVLKFGPVDSTLGFLPWHIRLTEIVSLPSHLNISYEDFFSALRQYAACEQRLGK

• Structural information:
  • Interpro: IPR038887  IPR001441  IPR036424  
  • DIP: 61225
  • STRING: ENSP00000357480
• Other Databases: GeneCards:  NUS1  Malacards:  NUS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904423	dehydrodolichyl diphosphate synthase complex	IBA	cellular component
GO:0006486	protein glycosylation	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0019408	dolichol biosynthetic process	IBA	biological process
GO:0006489	dolichyl diphosphate biosynthetic process	IDA	biological process
GO:1904423	dehydrodolichyl diphosphate synthase complex	IDA	cellular component
GO:0045547	dehydrodolichyl diphosphate synthase activity	IDA	molecular function
GO:1904423	dehydrodolichyl diphosphate synthase complex	IEA	cellular component
GO:0016765	transferase activity, transferring alkyl or aryl (other than methyl) groups	IEA	molecular function
GO:0019408	dolichol biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0004659	prenyltransferase activity	IDA	contributes to
GO:0032383	regulation of intracellular cholesterol transport	IGI	biological process
GO:0019408	dolichol biosynthetic process	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006489	dolichyl diphosphate biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0035268	protein mannosylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004659	prenyltransferase activity	IEA	molecular function
GO:0055092	sterol homeostasis	IEA	biological process
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0032383	regulation of intracellular cholesterol transport	IEA	biological process
GO:0038084	vascular endothelial growth factor signaling pathway	IMP	biological process
GO:0043536	positive regulation of blood vessel endothelial cell migration	IMP	biological process
GO:0051000	positive regulation of nitric-oxide synthase activity	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00900	Terpenoid backbone biosynthesis

Diseases

Associated diseases	References
Congenital disorders of glycosylation type I	KEGG:H00118
Congenital disorders of glycosylation type I	KEGG:H00118
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