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Aliases for NUS1 Gene

Aliases for NUS1 Gene

  • NUS1 Dehydrodolichyl Diphosphate Synthase Subunit 2 3 5
  • Nogo-B Receptor 2 3 4
  • Nuclear Undecaprenyl Pyrophosphate Synthase 1 Homolog 3 4
  • Di-Trans,Poly-Cis-Decaprenylcistransferase 3 4
  • C6orf68 3 4
  • NgBR 3 4
  • Nuclear Undecaprenyl Pyrophosphate Synthase 1 Homolog (S. Cerevisiae) 2
  • Dehydrodolichyl Diphosphate Synthase Complex Subunit NUS1 3
  • Transport And Golgi Organization 14 Homolog (Drosophila) 2
  • Dehydrodolichyl Diphosphate Syntase Complex Subunit NUS1 3
  • Transport And Golgi Organization 14 Homolog 3
  • Chromosome 6 Open Reading Frame 68 2
  • EC 2.5.1.87 4
  • MGC:7199 3
  • TANGO14 3
  • CDG1AA 3

External Ids for NUS1 Gene

Previous HGNC Symbols for NUS1 Gene

  • C6orf68

Previous GeneCards Identifiers for NUS1 Gene

  • GC06P118104
  • GC06P117997
  • GC06P115577

Summaries for NUS1 Gene

GeneCards Summary for NUS1 Gene

NUS1 (NUS1 Dehydrodolichyl Diphosphate Synthase Subunit) is a Protein Coding gene. Diseases associated with NUS1 include Congenital Disorder Of Glycosylation 1Aa. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. GO annotations related to this gene include transferase activity, transferring alkyl or aryl (other than methyl) groups.

UniProtKB/Swiss-Prot for NUS1 Gene

  • With DHDDS, forms the dehydrodolichyl diphosphate synthase (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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUS1 Gene

Genomics for NUS1 Gene

Regulatory Elements for NUS1 Gene

Enhancers for NUS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F117674 1.1 ENCODE 25.7 +1.1 1096 4.2 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 NUS1 PIR50962
GH06F117615 1.3 FANTOM5 Ensembl ENCODE 10.9 -58.8 -58828 2.6 CTCF TEAD4 EBF1 ZIC2 RELA GLIS2 ZFHX2 SCRT2 PATZ1 NFE2 DCBLD1 NUS1 ENSG00000226181 RNU6-253P GOPC PIR51319 NEPNP
GH06F117600 1.1 ENCODE 10.8 -72.9 -72886 3.3 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ENSG00000226181 NUS1 DCBLD1 GOPC NEPNP
GH06F118668 1.1 Ensembl ENCODE 10.8 +993.8 993752 2.0 HDAC1 ZFP64 ZNF155 ZNF121 ZNF354C ZNF138 GATA2 ZNF202 ZNF680 ZNF654 LOC644303 NUS1 ASF1A RPL29P4 CEP85L SSXP10
GH06F117439 1.2 Ensembl ENCODE 9.7 -234.2 -234151 3.0 PKNOX1 ATF1 MLX DMAP1 BRCA1 YY1 SLC30A9 CBX5 FOS MIER2 DCBLD1 NUS1 ROS1 RAP1BP3 ENSG00000226181
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NUS1 on UCSC Golden Path with GeneCards custom track

Promoters for NUS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001499154 847 3800 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

Genomic Location for NUS1 Gene

Chromosome:
6
Start:
117,675,454 bp from pter
End:
117,710,727 bp from pter
Size:
35,274 bases
Orientation:
Plus strand

Genomic View for NUS1 Gene

Genes around NUS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUS1 Gene

Proteins for NUS1 Gene

  • Protein details for NUS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96E22-NGBR_HUMAN
    Recommended name:
    Dehydrodolichyl diphosphate synthase complex subunit NUS1
    Protein Accession:
    Q96E22
    Secondary Accessions:
    • B2RWQ4
    • O00251

    Protein attributes for NUS1 Gene

    Size:
    293 amino acids
    Molecular mass:
    33224 Da
    Quaternary structure:
    • Forms an active dehydrodolichyl diphosphate synthase complex with DHDDS. Interacts with NPC2.
    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.
    SequenceCaution:
    • Sequence=AAB72234.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for NUS1 Gene

Post-translational modifications for NUS1 Gene

  • Glycosylation at Asn 144 and Asn 271
  • Modification sites at PhosphoSitePlus

Other Protein References for NUS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NUS1 Gene

Domains & Families for NUS1 Gene

Protein Domains for NUS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NUS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96E22

UniProtKB/Swiss-Prot:

NGBR_HUMAN :
  • Belongs to the UPP synthase family.
Family:
  • Belongs to the UPP synthase family.
genes like me logo Genes that share domains with NUS1: view

No data available for Gene Families for NUS1 Gene

Function for NUS1 Gene

Molecular function for NUS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(2E,6E)-farnesyl diphosphate + n isopentenyl diphosphate = n diphosphate + ditrans,polycis-polyprenyl diphosphate (n = 10-55).
UniProtKB/Swiss-Prot Function:
With DHDDS, forms the dehydrodolichyl diphosphate synthase (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.

Enzyme Numbers (IUBMB) for NUS1 Gene

Gene Ontology (GO) - Molecular Function for NUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004659 contributes_to prenyltransferase activity IEA,IDA 25066056
GO:0005515 protein binding IPI 21572394
GO:0016740 transferase activity IEA --
GO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups IEA --
genes like me logo Genes that share ontologies with NUS1: view
genes like me logo Genes that share phenotypes with NUS1: view

Animal Models for NUS1 Gene

MGI Knock Outs for NUS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for NUS1

miRNA for NUS1 Gene

miRTarBase miRNAs that target NUS1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NUS1 Gene

Localization for NUS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUS1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Colocalizes with Nogo-B during VEGF and wound healing angiogenesis. {ECO:0000269 PubMed:19723497}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUS1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2
extracellular 1
cytoskeleton 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NUS1: view

Pathways & Interactions for NUS1 Gene

genes like me logo Genes that share pathways with NUS1: view

UniProtKB/Swiss-Prot Q96E22-NGBR_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for NUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0006486 protein glycosylation IEA --
GO:0006489 dolichyl diphosphate biosynthetic process TAS --
GO:0007275 multicellular organism development IEA --
GO:0019408 dolichol biosynthetic process IMP 25066056
genes like me logo Genes that share ontologies with NUS1: view

No data available for SIGNOR curated interactions for NUS1 Gene

Drugs & Compounds for NUS1 Gene

(1) Additional Compounds for NUS1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Undecaprenyl diphosphate
  • Bactoprenyl pyrophosphate
  • Diphosphoric acid mono(3,7,11,15,19,23,27,31,35,39,43-undecamethyl-2,6,10,14,18,22,26,30,34,38,42-tetratetracontaundecaenyl) ester
  • Undecaprenyl diphosphate
  • Undecaprenyl pyrophosphate
  • Undecaprenyl-PP
23-13-2
genes like me logo Genes that share compounds with NUS1: view

Transcripts for NUS1 Gene

mRNA/cDNA for NUS1 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(270) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NUS1 Gene

Nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NUS1 Gene

No ASD Table

Relevant External Links for NUS1 Gene

GeneLoc Exon Structure for
NUS1
ECgene alternative splicing isoforms for
NUS1

Expression for NUS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUS1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NUS1 Gene



Protein tissue co-expression partners for NUS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUS1 Gene:

NUS1

SOURCE GeneReport for Unigene cluster for NUS1 Gene:

Hs.289008
genes like me logo Genes that share expression patterns with NUS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NUS1 Gene

Orthologs for NUS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NUS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUS1 34 35
  • 99.43 (n)
-- 35
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NUS1 34 35
  • 94.2 (n)
cow
(Bos Taurus)
Mammalia NUS1 34 35
  • 94.08 (n)
mouse
(Mus musculus)
Mammalia Nus1 34 16 35
  • 89.99 (n)
rat
(Rattus norvegicus)
Mammalia Nus1 34
  • 88.51 (n)
oppossum
(Monodelphis domestica)
Mammalia NUS1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NUS1 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUS1 34 35
  • 75.55 (n)
lizard
(Anolis carolinensis)
Reptilia NUS1 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11848 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13098 34
zebrafish
(Danio rerio)
Actinopterygii nus1 34 35
  • 63.82 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000402 34
  • 46.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tango14 35
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NUS1 35 37
  • 19 (a)
OneToOne
Species where no ortholog for NUS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NUS1 Gene

ENSEMBL:
Gene Tree for NUS1 (if available)
TreeFam:
Gene Tree for NUS1 (if available)

Paralogs for NUS1 Gene

Pseudogenes.org Pseudogenes for NUS1 Gene

genes like me logo Genes that share paralogs with NUS1: view

No data available for Paralogs for NUS1 Gene

Variants for NUS1 Gene

Sequence variations from dbSNP and Humsavar for NUS1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_071210 Congenital disorder of glycosylation 1AA (CDG1AA) [MIM:617082]
rs10484276 -- 117,705,494(-) AAGAG(A/C)CTGTT intron-variant
rs1052232 -- 117,694,062(+) GTGCT(A/G/T)TCTCC reference, synonymous-codon
rs1052233 -- 117,694,092(+) ATTGT(A/G)AGAGC reference, synonymous-codon
rs1052235 -- 117,694,098(+) AGAGC(C/T)GCTCA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for NUS1 Gene

Variant ID Type Subtype PubMed ID
nsv5449 CNV deletion 18451855
nsv830786 CNV gain 17160897
nsv969438 CNV duplication 23825009

Variation tolerance for NUS1 Gene

Residual Variation Intolerance Score: 71.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NUS1 Gene

Human Gene Mutation Database (HGMD)
NUS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUS1 Gene

Disorders for NUS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NUS1 Gene - From: ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation 1aa
  • congenital disorder of glycosylation, type 1aa
- elite association - COSMIC cancer census association via MalaCards
Search NUS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NGBR_HUMAN
  • Congenital disorder of glycosylation 1AA (CDG1AA) [MIM:617082]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1AA inheritance is autosomal recessive. {ECO:0000269 PubMed:25066056}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NUS1

Human Genome Epidemiology (HuGE) Navigator
NUS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NUS1
genes like me logo Genes that share disorders with NUS1: view

No data available for Genatlas for NUS1 Gene

Publications for NUS1 Gene

  1. Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. (PMID: 25066056) Park E.J. … Sessa W.C. (Cell Metab. 2014) 2 3 4 64
  2. Nogo-B receptor is necessary for cellular dolichol biosynthesis and protein N-glycosylation. (PMID: 21572394) Harrison K.D. … Sessa W.C. (EMBO J. 2011) 3 4 64
  3. Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol trafficking. (PMID: 19723497) Harrison K.D. … Sessa W.C. (Cell Metab. 2009) 3 4 64
  4. Identification of a receptor necessary for Nogo-B stimulated chemotaxis and morphogenesis of endothelial cells. (PMID: 16835300) Miao R.Q. … Sessa W.C. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for NUS1 Gene

Sources for NUS1 Gene

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