NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit) Homo sapiens
Analyze
Symbol: NUS1
Name: NUS1 dehydrodolichyl diphosphate synthase subunit
RGD ID: 1317328
HGNC Page HGNC
Description: Enables dehydrodolichyl diphosphate synthase activity. Contributes to prenyltransferase activity. Involved in several processes, including dolichyl diphosphate biosynthetic process; positive regulation of blood vessel endothelial cell migration; and positive regulation of nitric-oxide synthase activity. Acts upstream of or within dolichol biosynthetic process and regulation of intracellular cholesterol transport. Located in endoplasmic reticulum membrane. Part of dehydrodolichyl diphosphate synthase complex. Implicated in autosomal dominant mental retardation 55 and congenital disorder of glycosylation Iaa.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C6orf68; CDG1AA; cis-prenyltransferase subunit NgBR; dehydrodolichyl diphosphate syntase complex subunit NUS1; dehydrodolichyl diphosphate synthase complex subunit NUS1; di-trans,poly-cis-decaprenylcistransferase; MGC117249; MGC7199; MGC:7199; MRD55; NgBR; nogo-B receptor; nuclear undecaprenyl pyrophosphate synthase 1 homolog; NUS1, dehydrodolichyl diphosphate synthase subunit; TANGO14; transport and golgi organization 14 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: NUS1P1   NUS1P2   NUS1P3   NUS1P4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6117,675,469 - 117,710,727 (+)EnsemblGRCh38hg38GRCh38
GRCh386117,675,469 - 117,710,727 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376117,996,632 - 118,031,890 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366118,103,310 - 118,138,583 (+)NCBINCBI36hg18NCBI36
Build 346118,103,362 - 118,136,441NCBI
Celera6118,739,521 - 118,774,823 (+)NCBI
Cytogenetic Map6q22.1NCBI
HuRef6115,577,729 - 115,612,992 (+)NCBIHuRef
CHM1_16118,260,511 - 118,295,775 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of vision  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Congenital onset  (IAGP)
Decreased fetal movement  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
EEG abnormality  (IAGP)
EEG with multifocal slow activity  (IAGP)
Encephalopathy  (IAGP)
Epileptic encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
Hypertrichosis  (IAGP)
Hypodontia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Limb hypertonia  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Motor delay  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Poor head control  (IAGP)
Ptosis  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
Visual impairment  (IAGP)
References

Additional References at PubMed
PMID:9294218   PMID:12378589   PMID:12477932   PMID:14574404   PMID:15489334   PMID:16835300   PMID:17764014   PMID:19723497   PMID:21572394   PMID:21873635   PMID:24223763   PMID:24568601  
PMID:24824130   PMID:25066056   PMID:25075030   PMID:25173099   PMID:25202063   PMID:26186194   PMID:26638075   PMID:26760575   PMID:26840457   PMID:27038333   PMID:28380382   PMID:28514442  
PMID:28602162   PMID:28842490   PMID:29180619   PMID:29331415   PMID:29346419   PMID:29373839   PMID:29904947   PMID:30106141   PMID:30208932   PMID:30348779   PMID:31056421   PMID:31073040  
PMID:31154456   PMID:31656175   PMID:32246992   PMID:32817466   PMID:32871760   PMID:33077723   PMID:33184037   PMID:33400686   PMID:34079125  


Genomics

Comparative Map Data
NUS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6117,675,469 - 117,710,727 (+)EnsemblGRCh38hg38GRCh38
GRCh386117,675,469 - 117,710,727 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376117,996,632 - 118,031,890 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366118,103,310 - 118,138,583 (+)NCBINCBI36hg18NCBI36
Build 346118,103,362 - 118,136,441NCBI
Celera6118,739,521 - 118,774,823 (+)NCBI
Cytogenetic Map6q22.1NCBI
HuRef6115,577,729 - 115,612,992 (+)NCBIHuRef
CHM1_16118,260,511 - 118,295,775 (+)NCBICHM1_1
Nus1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391052,293,643 - 52,316,288 (+)NCBIGRCm39mm39
GRCm39 Ensembl1052,293,643 - 52,316,279 (+)Ensembl
GRCm381052,417,547 - 52,440,192 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1052,417,547 - 52,440,183 (+)EnsemblGRCm38mm10GRCm38
MGSCv371052,137,353 - 52,159,998 (+)NCBIGRCm37mm9NCBIm37
MGSCv361052,106,015 - 52,125,181 (+)NCBImm8
Celera1053,256,151 - 53,278,472 (+)NCBICelera
Cytogenetic Map10B3NCBI
cM Map1026.64NCBI
Nus1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22031,811,817 - 31,838,562 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl2033,557,052 - 33,584,010 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02033,557,052 - 33,584,011 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02035,336,831 - 35,363,790 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42031,143,886 - 31,170,668 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12031,144,058 - 31,181,953 (+)NCBI
Celera2033,209,636 - 33,236,417 (+)NCBICelera
Cytogenetic Map20q11NCBI
Nus1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955436825,387 - 850,558 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955436825,387 - 850,558 (+)NCBIChiLan1.0ChiLan1.0
NUS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16119,626,895 - 119,661,552 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v06115,486,422 - 115,521,317 (+)NCBIMhudiblu_PPA_v0panPan3
NUS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1157,866,760 - 57,895,505 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl157,866,879 - 57,893,077 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha158,669,766 - 58,698,455 (+)NCBI
ROS_Cfam_1.0158,050,809 - 58,079,510 (+)NCBI
UMICH_Zoey_3.1157,952,148 - 57,980,842 (+)NCBI
UNSW_CanFamBas_1.0157,793,092 - 57,821,772 (+)NCBI
UU_Cfam_GSD_1.0158,424,589 - 58,453,383 (+)NCBI
Nus1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946108,588,710 - 108,612,028 (+)NCBI
SpeTri2.0NW_004936658695,431 - 718,891 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl144,156,778 - 44,186,194 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1144,156,771 - 44,186,224 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2149,503,144 - 49,532,778 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NUS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11356,115,581 - 56,147,918 (-)NCBI
ChlSab1.1 Ensembl1356,113,428 - 56,147,982 (-)Ensembl
Vero_WHO_p1.0NW_02366604028,444,435 - 28,478,805 (-)NCBI
Nus1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479812,132,570 - 12,154,252 (-)NCBI

Position Markers
SHGC-78764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376118,027,407 - 118,027,680UniSTSGRCh37
Build 366118,134,100 - 118,134,373RGDNCBI36
Celera6118,770,313 - 118,770,586RGD
Cytogenetic Map6q22.1UniSTS
HuRef6115,608,506 - 115,608,779UniSTS
TNG Radiation Hybrid Map657239.0UniSTS
SHGC-104939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376118,002,069 - 118,002,341UniSTSGRCh37
Build 366118,108,762 - 118,109,034RGDNCBI36
Celera6118,744,973 - 118,745,245RGD
Cytogenetic Map6q22.1UniSTS
HuRef6115,583,181 - 115,583,453UniSTS
TNG Radiation Hybrid Map657233.0UniSTS
SHGC-34264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376118,031,606 - 118,031,734UniSTSGRCh37
Build 366118,138,299 - 118,138,427RGDNCBI36
Celera6118,774,539 - 118,774,667RGD
Cytogenetic Map6q22.1UniSTS
HuRef6115,612,708 - 115,612,836UniSTS
GeneMap99-GB4 RH Map6493.43UniSTS
Whitehead-RH Map6717.3UniSTS
GeneMap99-G3 RH Map65267.0UniSTS
RH98866  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q22.1UniSTS
D13S874E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q22.1UniSTS
G22117  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q22.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1062
Count of miRNA genes:661
Interacting mature miRNAs:756
Transcripts:ENST00000368494
Prediction methods:Miranda
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1974 1392 1478 459 1111 316 2617 877 2018 344 1222 1595 156 998 1510 3
Low 458 1562 245 163 810 148 1738 1313 1690 74 226 13 15 206 1278 1
Below cutoff 30 27 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_054913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA825565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000368494   ⟹   ENSP00000357480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6117,675,469 - 117,710,727 (+)Ensembl
RefSeq Acc Id: NM_138459   ⟹   NP_612468
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386117,675,469 - 117,710,727 (+)NCBI
GRCh376117,996,617 - 118,031,890 (+)RGD
Build 366118,103,310 - 118,138,583 (+)NCBI Archive
Celera6118,739,521 - 118,774,823 (+)RGD
HuRef6115,577,729 - 115,612,992 (+)ENTREZGENE
CHM1_16118,260,511 - 118,295,775 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_612468   ⟸   NM_138459
- UniProtKB: Q96E22 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000357480   ⟸   ENST00000368494

Promoters
RGD ID:7209001
Promoter ID:EPDNEW_H10247
Type:initiation region
Name:NUS1_1
Description:NUS1 dehydrodolichyl diphosphate synthase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10248  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386117,675,486 - 117,675,546EPDNEW
RGD ID:7209005
Promoter ID:EPDNEW_H10248
Type:initiation region
Name:NUS1_2
Description:NUS1 dehydrodolichyl diphosphate synthase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10247  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386117,675,636 - 117,675,696EPDNEW
RGD ID:6804191
Promoter ID:HG_KWN:54808
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000398269,   NM_138459
Position:
Human AssemblyChrPosition (strand)Source
Build 366118,102,964 - 118,103,464 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_138459.5(NUS1):c.128_141dup (p.Val48fs) duplication Intellectual disability, autosomal dominant 55, with seizures [RCV000577867]|not provided [RCV001090683] Chr6:117675789..117675790 [GRCh38]
Chr6:117996952..117996953 [GRCh37]
Chr6:6q22.1
pathogenic
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2
pathogenic
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 copy number loss See cases [RCV000052196] Chr6:115601230..128514324 [GRCh38]
Chr6:115922394..128835469 [GRCh37]
Chr6:116029087..128877162 [NCBI36]
Chr6:6q22.1-22.33
pathogenic
GRCh38/hg38 6q22.1(chr6:117206991-117881842)x3 copy number gain See cases [RCV000053369] Chr6:117206991..117881842 [GRCh38]
Chr6:117528154..118203005 [GRCh37]
Chr6:117634847..118309698 [NCBI36]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.93_94insCAGG (p.Thr32fs) insertion Intellectual disability, autosomal dominant 55, with seizures [RCV001292934] Chr6:117675763..117675764 [GRCh38]
Chr6:117996926..117996927 [GRCh37]
Chr6:6q22.1
pathogenic
GRCh38/hg38 6q22.1-22.31(chr6:117706176-118397313)x3 copy number gain See cases [RCV000135681] Chr6:117706176..118397313 [GRCh38]
Chr6:118027339..118718476 [GRCh37]
Chr6:118134032..118825169 [NCBI36]
Chr6:6q22.1-22.31
uncertain significance
GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1 copy number loss See cases [RCV000135623] Chr6:115326962..117935240 [GRCh38]
Chr6:115648126..118256403 [GRCh37]
Chr6:115754819..118363096 [NCBI36]
Chr6:6q22.1-22.2
likely pathogenic
GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3 copy number gain See cases [RCV000137726] Chr6:117607147..126699980 [GRCh38]
Chr6:117928310..127021125 [GRCh37]
Chr6:118035003..127062818 [NCBI36]
Chr6:6q22.1-22.32
pathogenic
GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1 copy number loss See cases [RCV000139944] Chr6:116815199..119718887 [GRCh38]
Chr6:117136362..120040041 [GRCh37]
Chr6:117243055..120081740 [NCBI36]
Chr6:6q22.1-22.31
likely pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31
pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31
pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31
pathogenic
NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del deletion Autistic behavior [RCV000157072] Chr6:117810996..119417693 [GRCh37]
Chr6:6q22.1-22.31
pathogenic
NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del deletion Dysmorphic features [RCV000157073] Chr6:112511752..118037595 [GRCh37]
Chr6:6q21-22.1
pathogenic
NC_000006.11:g.(117961791_117961792)_(118280043_118280044)del deletion Intellectual disability [RCV000157074] Chr6:117640629..117958880 [GRCh38]
Chr6:117961792..118280043 [GRCh37]
Chr6:6q22.1-22.2
pathogenic
NC_000006.11:g.(117971549_117971550)_(118218719_118218720)del deletion Intellectual disability [RCV000157075] Chr6:117650387..117897556 [GRCh38]
Chr6:117971550..118218719 [GRCh37]
Chr6:6q22.1
pathogenic
NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del deletion Delayed speech and language development [RCV000157076] Chr6:116735056..119687719 [GRCh37]
Chr6:6q22.1-22.31
pathogenic
NM_138459.5(NUS1):c.869G>A (p.Arg290His) single nucleotide variant Congenital disorder of glycosylation [RCV001262137]|Congenital disorder of glycosylation, type Iaa [RCV000239673]|Intellectual disability, autosomal dominant 55, with seizures [RCV001253663] Chr6:117707002 [GRCh38]
Chr6:118028165 [GRCh37]
Chr6:6q22.1
pathogenic|uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 copy number loss 6q21-6q22.1 deletion [RCV000416567] Chr6:112069445..120994664 [GRCh37]
Chr6:6q21-22.31
likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_138459.5(NUS1):c.743del (p.Asp248fs) deletion Intellectual disability, autosomal dominant 55, with seizures [RCV000577851] Chr6:117703656 [GRCh38]
Chr6:118024819 [GRCh37]
Chr6:6q22.1
pathogenic
NC_000006.12:g.(117676084_117693041)_(117693166_117694030)del deletion Intellectual disability, autosomal dominant 55, with seizures [RCV000577834] Chr6:117693041..117693166 [GRCh38]
Chr6:6q22.1
pathogenic
NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV000653379] Chr6:117706936 [GRCh38]
Chr6:118028099 [GRCh37]
Chr6:6q22.1
uncertain significance
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2
drug response
NM_138459.5(NUS1):c.790G>A (p.Val264Ile) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV000688711] Chr6:117703703 [GRCh38]
Chr6:118024866 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys) indel Congenital disorder of glycosylation, type Iaa [RCV000686783] Chr6:117675868..117675869 [GRCh38]
Chr6:117997031..117997032 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV000689957]|Intellectual disability, autosomal dominant 55, with seizures [RCV001335392] Chr6:117693132 [GRCh38]
Chr6:118014295 [GRCh37]
Chr6:6q22.1
likely benign|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_138459.5(NUS1):c.318C>T (p.Thr106=) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV000900258] Chr6:117675988 [GRCh38]
Chr6:117997151 [GRCh37]
Chr6:6q22.1
likely benign
NM_138459.5(NUS1):c.197G>C (p.Arg66Pro) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV000948745] Chr6:117675867 [GRCh38]
Chr6:117997030 [GRCh37]
Chr6:6q22.1
benign
NM_138459.5(NUS1):c.238_263del (p.Ala80fs) deletion Intellectual disability, autosomal dominant 55, with seizures [RCV000995824] Chr6:117675908..117675933 [GRCh38]
Chr6:117997071..117997096 [GRCh37]
Chr6:6q22.1
pathogenic
NM_138459.5(NUS1):c.845G>A (p.Arg282His) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV001038601] Chr6:117706978 [GRCh38]
Chr6:118028141 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.537T>A (p.Asp179Glu) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV000964286] Chr6:117693163 [GRCh38]
Chr6:118014326 [GRCh37]
Chr6:6q22.1
benign
NM_138459.5(NUS1):c.63G>T (p.Thr21=) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV000892108] Chr6:117675733 [GRCh38]
Chr6:117996896 [GRCh37]
Chr6:6q22.1
likely benign
NM_138459.5(NUS1):c.843T>G (p.Leu281=) single nucleotide variant not provided [RCV000919178] Chr6:117706976 [GRCh38]
Chr6:118028139 [GRCh37]
Chr6:6q22.1
likely benign
NM_138459.5(NUS1):c.692-1G>A single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV000987765] Chr6:117703604 [GRCh38]
Chr6:118024767 [GRCh37]
Chr6:6q22.1
likely pathogenic
NM_138459.5(NUS1):c.99dup (p.Asn34fs) duplication Congenital disorder of glycosylation, type Iaa [RCV000811447] Chr6:117675767..117675768 [GRCh38]
Chr6:117996930..117996931 [GRCh37]
Chr6:6q22.1
pathogenic
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV000792334] Chr6:117694129 [GRCh38]
Chr6:118015292 [GRCh37]
Chr6:6q22.1
uncertain significance
GRCh37/hg19 6q22.1-22.31(chr6:117746455-118649226)x1 copy number loss not provided [RCV000846706] Chr6:117746455..118649226 [GRCh37]
Chr6:6q22.1-22.31
uncertain significance
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 copy number loss not provided [RCV000848701] Chr6:110981075..119608396 [GRCh37]
Chr6:6q21-22.31
pathogenic
NM_138459.5(NUS1):c.579G>A (p.Pro193=) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV001240313] Chr6:117694068 [GRCh38]
Chr6:118015231 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.74G>A (p.Trp25Ter) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV001204153] Chr6:117675744 [GRCh38]
Chr6:117996907 [GRCh37]
Chr6:6q22.1
pathogenic
NM_138459.5(NUS1):c.378C>T (p.Ala126=) single nucleotide variant not provided [RCV000931156] Chr6:117676048 [GRCh38]
Chr6:117997211 [GRCh37]
Chr6:6q22.1
likely benign
NM_138459.5(NUS1):c.732C>T (p.Phe244=) single nucleotide variant not provided [RCV000882321] Chr6:117703645 [GRCh38]
Chr6:118024808 [GRCh37]
Chr6:6q22.1
benign
NM_138459.5(NUS1):c.561A>T (p.Ala187=) single nucleotide variant not provided [RCV000929392] Chr6:117694050 [GRCh38]
Chr6:118015213 [GRCh37]
Chr6:6q22.1
likely benign
NM_138459.5(NUS1):c.218_242del (p.Arg73fs) deletion not provided [RCV001009239] Chr6:117675884..117675908 [GRCh38]
Chr6:117997047..117997071 [GRCh37]
Chr6:6q22.1
pathogenic
NM_138459.5(NUS1):c.100A>G (p.Asn34Asp) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV001204730] Chr6:117675770 [GRCh38]
Chr6:117996933 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.82G>C (p.Val28Leu) single nucleotide variant Microcephaly [RCV001252756] Chr6:117675752 [GRCh38]
Chr6:117996915 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp) single nucleotide variant Autistic disorder of childhood onset [RCV001256120] Chr6:117703610 [GRCh38]
Chr6:118024773 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.92_93insAG (p.Thr32fs) insertion Intellectual disability, autosomal dominant 55, with seizures [RCV001294141] Chr6:117675761..117675762 [GRCh38]
Chr6:117996924..117996925 [GRCh37]
Chr6:6q22.1
pathogenic
NM_138459.5(NUS1):c.752T>G (p.Leu251Ter) single nucleotide variant not provided [RCV001260227] Chr6:117703665 [GRCh38]
Chr6:118024828 [GRCh37]
Chr6:6q22.1
pathogenic
NM_138459.5(NUS1):c.734G>T (p.Gly245Val) single nucleotide variant not provided [RCV001260226] Chr6:117703647 [GRCh38]
Chr6:118024810 [GRCh37]
Chr6:6q22.1
pathogenic
NM_138459.5(NUS1):c.415+1G>A single nucleotide variant not provided [RCV001260228] Chr6:117676086 [GRCh38]
Chr6:117997249 [GRCh37]
Chr6:6q22.1
pathogenic
NM_138459.5(NUS1):c.104G>A (p.Trp35Ter) single nucleotide variant Inborn genetic diseases [RCV001267175] Chr6:117675774 [GRCh38]
Chr6:117996937 [GRCh37]
Chr6:6q22.1
pathogenic
NM_138459.5(NUS1):c.672_673del (p.Thr225fs) deletion not provided [RCV001268357] Chr6:117694160..117694161 [GRCh38]
Chr6:118015323..118015324 [GRCh37]
Chr6:6q22.1
likely pathogenic
NM_138459.5(NUS1):c.28_29dup (p.Val11fs) duplication not provided [RCV001268726] Chr6:117675696..117675697 [GRCh38]
Chr6:117996859..117996860 [GRCh37]
Chr6:6q22.1
likely pathogenic
NM_138459.5(NUS1):c.443T>A (p.Leu148Ter) single nucleotide variant Inborn genetic diseases [RCV001266872] Chr6:117693069 [GRCh38]
Chr6:118014232 [GRCh37]
Chr6:6q22.1
pathogenic
NC_000006.11:g.116734559_123648104del deletion Seizures [RCV001256147] Chr6:116734559..123648104 [GRCh37]
Chr6:6q22.1-22.31
pathogenic
NM_138459.5(NUS1):c.250C>G (p.Arg84Gly) single nucleotide variant Intellectual disability, autosomal dominant 55, with seizures [RCV001330348] Chr6:117675920 [GRCh38]
Chr6:117997083 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.246C>G (p.His82Gln) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV001335391] Chr6:117675916 [GRCh38]
Chr6:117997079 [GRCh37]
Chr6:6q22.1
uncertain significance
NC_000006.11:g.(?_118028088)_(118028178_?)del deletion Congenital disorder of glycosylation, type Iaa [RCV001309818] Chr6:118028088..118028178 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV001330349] Chr6:117675745 [GRCh38]
Chr6:117996908 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.127G>A (p.Ala43Thr) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV001367357] Chr6:117675797 [GRCh38]
Chr6:117996960 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_138459.5(NUS1):c.849A>G (p.Gln283=) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV001518585] Chr6:117706982 [GRCh38]
Chr6:118028145 [GRCh37]
Chr6:6q22.1
benign
NM_138459.5(NUS1):c.822T>C (p.Tyr274=) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV001485853] Chr6:117706955 [GRCh38]
Chr6:118028118 [GRCh37]
Chr6:6q22.1
likely benign
NM_138459.5(NUS1):c.69C>G (p.Thr23=) single nucleotide variant Congenital disorder of glycosylation, type Iaa [RCV001458238] Chr6:117675739 [GRCh38]
Chr6:117996902 [GRCh37]
Chr6:6q22.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21042 AgrOrtholog
COSMIC NUS1 COSMIC
Ensembl Genes ENSG00000153989 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000357480 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368494 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.1180.10 UniProtKB/Swiss-Prot
GTEx ENSG00000153989 GTEx
HGNC ID HGNC:21042 ENTREZGENE
Human Proteome Map NUS1 Human Proteome Map
InterPro Nus1/NgBR UniProtKB/Swiss-Prot
  UPP_synth-like UniProtKB/Swiss-Prot
  UPP_synth-like_sf UniProtKB/Swiss-Prot
KEGG Report hsa:116150 UniProtKB/Swiss-Prot
NCBI Gene 116150 ENTREZGENE
OMIM 610463 OMIM
  617082 OMIM
  617831 OMIM
PANTHER PTHR21528 UniProtKB/Swiss-Prot
Pfam Prenyltransf UniProtKB/Swiss-Prot
PharmGKB PA162398248 PharmGKB
Superfamily-SCOP SSF64005 UniProtKB/Swiss-Prot
UniProt NGBR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RWQ4 UniProtKB/Swiss-Prot
  O00251 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 NUS1  NUS1 dehydrodolichyl diphosphate synthase subunit    NUS1, dehydrodolichyl diphosphate synthase subunit  Symbol and/or name change 5135510 APPROVED
2018-05-01 NUS1  NUS1, dehydrodolichyl diphosphate synthase subunit    NUS1 dehydrodolichyl diphosphate synthase subunit  Symbol and/or name change 5135510 APPROVED
2015-06-30 NUS1  NUS1 dehydrodolichyl diphosphate synthase subunit    nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED