Human Gene NUS1 (uc003pxw.3)
  Description: Homo sapiens nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) (NUS1), mRNA.
RefSeq Summary (NM_138459): 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 protein glycosylation. This gene is highly expressed in non-small cell lung carcinomas as well as estrogen receptor-alpha positive breast cancer cells where it promotes epithelial mesenchymal transition. This gene is associated with the poor prognosis of human hepatocellular carcinoma patients. Naturally occurring mutations in this gene cause a congenital disorder of glycosylation and are associated with epilepsy. A knockout of the orthologous gene in mice causes embryonic lethality before day 6.5. Pseudogenes of this gene have been defined on chromosomes 13 and X. [provided by RefSeq, May 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr6:117,996,617-118,031,886 Size: 35,270 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr6:117,996,834-118,028,178 Size: 31,345 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:117,996,617-118,031,886)mRNA (may differ from genome)Protein (293 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NGBR_HUMAN
DESCRIPTION: RecName: Full=Nogo-B receptor; Short=NgBR; AltName: Full=Nuclear undecaprenyl pyrophosphate synthase 1 homolog; Flags: Precursor;
FUNCTION: Acts as a specific receptor for the N-terminus of Nogo- B, a neural and cardiovascular regulator. Regulates the stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol.
FUNCTION: Essential component of the dolichol monophosphate (Dol- P) biosynthetic machinery.
PATHWAY: Protein modification; protein glycosylation.
SUBUNIT: Interacts with DHDDS, promoting its isoprenyltransferase activity. Interacts with NPC2.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Colocalizes with Nogo-B during VEGF and wound healing angiogenesis.
MISCELLANEOUS: Although strongly related to UPP synthase family proteins, it has no lipid transferase activity.
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.
SIMILARITY: Belongs to the UPP synthase family.
SEQUENCE CAUTION: Sequence=AAB72234.1; Type=Frameshift; Positions=Several;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NUS1
Diseases sorted by gene-association score: congenital disorder of glycosylation, type 1aa* (1250)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.12 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 511.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.76217-0.354 Picture PostScript Text
3' UTR -897.773708-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001441 - UPP_synth-like

Pfam Domains:
PF01255 - Putative undecaprenyl diphosphate synthase

SCOP Domains:
64005 - Undecaprenyl diphosphate synthase

ModBase Predicted Comparative 3D Structure on Q96E22
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0004659 prenyltransferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups

Biological Process:
GO:0001525 angiogenesis
GO:0006486 protein glycosylation
GO:0007275 multicellular organism development
GO:0019408 dolichol biosynthetic process
GO:0030154 cell differentiation
GO:0032383 regulation of intracellular cholesterol transport
GO:0035268 protein mannosylation
GO:0038084 vascular endothelial growth factor signaling pathway
GO:0042632 cholesterol homeostasis
GO:0043536 positive regulation of blood vessel endothelial cell migration
GO:0051000 positive regulation of nitric-oxide synthase activity
GO:0055092 sterol homeostasis

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC066910 - Homo sapiens nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:87099 IMAGE:4830860), complete cds.
BC150654 - Homo sapiens nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:183565 IMAGE:9057025), complete cds.
BC150655 - Homo sapiens nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:183566 IMAGE:9057026), complete cds.
AK125119 - Homo sapiens cDNA FLJ43129 fis, clone CTONG3005648.
BC110325 - Homo sapiens nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:117249 IMAGE:5553827), complete cds.
BC063794 - Homo sapiens nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:70590 IMAGE:6500832), complete cds.
AK126335 - Homo sapiens cDNA FLJ44363 fis, clone TRACH3008093.
BC013026 - Homo sapiens nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:4666 IMAGE:3531630), complete cds.
JD498545 - Sequence 479569 from Patent EP1572962.
KJ895302 - Synthetic construct Homo sapiens clone ccsbBroadEn_04696 NUS1 gene, encodes complete protein.
AK130093 - Homo sapiens cDNA FLJ26583 fis, clone LNF07165.
JD035544 - Sequence 16568 from Patent EP1572962.
JD029889 - Sequence 10913 from Patent EP1572962.
JD243911 - Sequence 224935 from Patent EP1572962.
JD032420 - Sequence 13444 from Patent EP1572962.
JD504594 - Sequence 485618 from Patent EP1572962.
JD549145 - Sequence 530169 from Patent EP1572962.
JD144884 - Sequence 125908 from Patent EP1572962.
JD223681 - Sequence 204705 from Patent EP1572962.
JD504358 - Sequence 485382 from Patent EP1572962.
JD512909 - Sequence 493933 from Patent EP1572962.
JD494398 - Sequence 475422 from Patent EP1572962.
JD131228 - Sequence 112252 from Patent EP1572962.
JD233675 - Sequence 214699 from Patent EP1572962.
JD175057 - Sequence 156081 from Patent EP1572962.
JD175058 - Sequence 156082 from Patent EP1572962.
JD527209 - Sequence 508233 from Patent EP1572962.
JD419782 - Sequence 400806 from Patent EP1572962.
AJ420576 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1657486.
AK025467 - Homo sapiens cDNA: FLJ21814 fis, clone HEP01068.
JD175057 - Sequence 156081 from Patent EP1572962.
JD175058 - Sequence 156082 from Patent EP1572962.
JD372368 - Sequence 353392 from Patent EP1572962.
JD047016 - Sequence 28040 from Patent EP1572962.
JD298777 - Sequence 279801 from Patent EP1572962.
JD301869 - Sequence 282893 from Patent EP1572962.
JD313877 - Sequence 294901 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96E22 (Reactome details) participates in the following event(s):

R-HSA-4419978 DHDDS:NUS1 elongates E,E-FPP with (n)IPPP to form pPPP
R-HSA-446199 Synthesis of Dolichyl-phosphate
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2RWQ4, C6orf68, NGBR, NGBR_HUMAN, NM_138459, NP_612468, O00251, Q96E22
UCSC ID: uc003pxw.3
RefSeq Accession: NM_138459
Protein: Q96E22 (aka NGBR_HUMAN)
CCDS: CCDS5118.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_138459.3
exon count: 5CDS single in 3' UTR: no RNA size: 4811
ORF size: 882CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 1893.50frame shift in genome: no % Coverage: 99.92
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.