Gene/Proteome Database (LMPD)
LMPD ID
LMP006788
Gene ID
Species
Homo sapiens (Human)
Gene Name
nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
Gene Symbol
Synonyms
C6orf68; MGC:7199; NgBR; TANGO14
Alternate Names
dehydrodolichyl diphosphate syntase complex subunit NUS1; Nogo-B receptor; di-trans,poly-cis-decaprenylcistransferase; transport and golgi organization 14 homolog
Chromosome
6
Map Location
6q22.1
EC Number
2.5.1.87
Proteins
| dehydrodolichyl diphosphate syntase complex subunit NUS1 | |
|---|---|
| Refseq ID | NP_612468 |
| Protein GI | 20270243 |
| UniProt ID | Q96E22 |
| mRNA ID | NM_138459 |
| Length | 293 |
| RefSeq Status | VALIDATED |
| MTGLYELVWRVLHALLCLHRTLTSWLRVRFGTWNWIWRRCCRAASAAVLAPLGFTLRKPPAVGRNRRHHRHPRGGSCLAAAHHRMRWRADGRSLEKLPVHMGLVITEVEQEPSFSDIASLVVWCMAVGISYISVYDHQGIFKRNNSRLMDEILKQQQELLGLDCSKYSPEFANSNDKDDQVLNCHLAVKVLSPEDGKADIVRAAQDFCQLVAQKQKRPTDLDVDTLASLLSSNGCPDPDLVLKFGPVDSTLGFLPWHIRLTEIVSLPSHLNISYEDFFSALRQYAACEQRLGK | |
Gene Information
Entrez Gene ID
Gene Name
nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005789 | IDA:MGI | C | endoplasmic reticulum membrane |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0016765 | IEA:InterPro | F | transferase activity, transferring alkyl or aryl (other than methyl) groups |
| GO:0001525 | IEA:UniProtKB-KW | P | angiogenesis |
| GO:0030154 | IEA:UniProtKB-KW | P | cell differentiation |
| GO:0032367 | IGI:MGI | P | intracellular cholesterol transport |
| GO:0006486 | IEA:UniProtKB-UniPathway | P | protein glycosylation |
| GO:0055092 | IEA:Ensembl | P | sterol homeostasis |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR001441 | Decaprenyl diphosphate synthase-like |
UniProt Annotations
Entry Information
Gene Name
nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
Protein Entry
NGBR_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Catalytic Activity | (2E,6E)-farnesyl diphosphate + n isopentenyl diphosphate = n diphosphate + ditrans,polycis-polyprenyl diphosphate (n = 10-55). |
| Disease | Note=Defects in NUS1 are the cause of a congenital disorder of glycosylation (CDG) characterized by reduced protein glycosylation and altered dolichol profiles in the urine and serum. Affected individuals manifest profound psychomotor retardation, refractory epilepsy, congenital scoliosis, hearing deficit, and visual impairment with macular lesions. |
| Function | With DHDDS, forms the dehydrodolichyl diphosphate syntase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Adds multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precusrosor of dolichol which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol. Acts as a specific receptor for the N-terminus of Nogo-B, a neural and cardiovascular regulator. {ECO |
| Interaction | Q9H7T3:C10orf95; NbExp=3; IntAct=EBI-6949352, EBI-6949335; |
| Miscellaneous | NUS1 seems to exist in two topological orientations, a minor glycosylated species with its C-terminus oriented towards the lumen regulating NPC2 stability, and a major fraction oriented with its C-terminus directed towards the cytosol where it regulates cis-IPTase activity. |
| Pathway | Protein modification; protein glycosylation. |
| Sequence Caution | Sequence=AAB72234.1; Type=Frameshift; Positions=Several; Evidence= ; |
| Similarity | Belongs to the UPP synthase family. |
| Subcellular Location | Endoplasmic reticulum membrane ; Multi- pass membrane protein . Note=Colocalizes with Nogo-B during VEGF and wound healing angiogenesis. |
| Subunit | Forms an active dehydrodolichyl diphosphate syntase complex with DHDDS. Interacts with NPC2. {ECO |
Identical and Related Proteins
Unique RefSeq proteins for LMP006788 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 20270243 | RefSeq | NP_612468 | 293 | dehydrodolichyl diphosphate syntase complex subunit NUS1 |
Identical Sequences to LMP006788 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:20270243 | GenBank | ADS55992.1 | 293 | Sequence 98 from patent US 7803915 |
| GI:20270243 | GenBank | AED39156.1 | 293 | Sequence 1121 from patent US 7883858 |
| GI:20270243 | GenBank | AEX18483.1 | 293 | Sequence 1 from patent US 8084228 |
| GI:20270243 | GenBank | AFX01519.1 | 293 | Sequence 98 from patent US 8278042 |
| GI:20270243 | GenBank | AHD74474.1 | 293 | Sequence 14491 from patent US 8586006 |
| GI:20270243 | GenBank | AIC52883.1 | 293 | NUS1, partial [synthetic construct] |
Related Sequences to LMP006788 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:20270243 | GenBank | EAW59309.1 | 323 | chromosome 6 open reading frame 68 [Homo sapiens] |
| GI:20270243 | GenBank | ACH01551.1 | 347 | Sequence 97 from patent US 7390882 |
| GI:20270243 | GenBank | ACW56226.1 | 347 | Sequence 97 from patent US 7585953 |
| GI:20270243 | GenBank | ADR93766.1 | 347 | Sequence 97 from patent US 7749504 |
| GI:20270243 | GenBank | ADS55991.1 | 347 | Sequence 97 from patent US 7803915 |
| GI:20270243 | GenBank | AFX01518.1 | 347 | Sequence 97 from patent US 8278042 |