Nus1 MGI Mouse Gene Detail - MGI:1196365 - NUS1 dehydrodolichyl diphosphate synthase subunit

Symbol

Nus1
Name

NUS1 dehydrodolichyl diphosphate synthase subunit
Synonyms

1600027K07Rik, D10Ertd438e, MGC:7199, NgBR

Feature Type

protein coding gene
IDs

MGI:1196365
NCBI Gene: 52014
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr10:52293643-52316279 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 26.64 cM
Mapping Data

3 experiments

SNPs within 2kb

523 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1196365	protein coding gene	Chr10:52293643-52316288 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017226	protein coding gene	Chr10:51577006-51599651 (+)
A/J	MGP_AJ_G0017202	protein coding gene	Chr10:50060479-50083176 (+)
AKR/J	MGP_AKRJ_G0017161	protein coding gene	Chr10:51023861-51046494 (+)
BALB/cJ	MGP_BALBcJ_G0017163	protein coding gene	Chr10:50163035-50185680 (+)
C3H/HeJ	MGP_C3HHeJ_G0016985	protein coding gene	Chr10:51268951-51291588 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017622	protein coding gene	Chr10:53209580-53233503 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015316	protein coding gene	Chr10:47280879-47308417 (+)
CAST/EiJ	MGP_CASTEiJ_G0016559	protein coding gene	Chr10:51394558-51457444 (+)
CBA/J	MGP_CBAJ_G0016958	protein coding gene	Chr10:55481162-55504489 (+)
DBA/2J	MGP_DBA2J_G0017063	protein coding gene	Chr10:49472380-49496976 (+)
FVB/NJ	MGP_FVBNJ_G0017057	protein coding gene	Chr10:48821975-48844620 (+)
LP/J	MGP_LPJ_G0017138	protein coding gene	Chr10:51656766-51683712 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017086	protein coding gene	Chr10:57402973-57426532 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017657	protein coding gene	Chr10:50954938-50979071 (+)
PWK/PhJ	MGP_PWKPhJ_G0016340	protein coding gene	Chr10:49336002-49359759 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016125	protein coding gene	Chr10:50569803-50594586 (+)
WSB/EiJ	MGP_WSBEiJ_G0016624	protein coding gene	Chr10:51180355-51203648 (+)

Human Ortholog

NUS1, NUS1 dehydrodolichyl diphosphate synthase subunit

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NUS1, NUS1 dehydrodolichyl diphosphate synthase subunit
Synonyms

C6orf68, CDG1AA, MGC:7199, MRD55, NgBR, TANGO14
Links

HGNC:21042

NCBI Gene ID: 116150

neXtProt AC: NX_Q96E22

UniProt: Q96E22
Chr Location

6q22.1; chr6:117675469-117710727 (+) GRCh38

MGI Vertebrate Homology

Nus1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NUS1
Gene Tree

Nus1

Diseases

2 with human NUS1 associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder 55 IDs autosomal dominant intellectual developmental disorder 55 DOID:0080227 OMIM:617831
				congenital disorder of glycosylation Iaa IDs congenital disorder of glycosylation Iaa DOID:0080553 OMIM:617082

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

32 phenotypes from 4 alleles in 9 genetic backgrounds
3 phenotypes from multigenic genotypes
21 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

18
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

6
Radiation induced

1
Targeted

7
Genomic Mutations

2 involving Nus1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

19 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele die prior to E6.5. MEFs homozygous for a conditionally activated knock-out allele exhibit impaired glycosylation.

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All GO Annotations

28
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

143
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nus1

ZFIN nus1

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All Sequences

44
RefSeq

2
UniProt

1
CCDS

CCDS23841.1

Ensembl

ENSMUSG00000023068 (Evidence)
NCBI Gene

52014

			Length	Strain/Species	Flank
genomic	ENSMUSG00000023068	Ensembl Gene Model \| MGI Sequence Detail	22637	C57BL/6J	± kb
transcript	ENSMUST00000023830	Ensembl \| MGI Sequence Detail	4605	Not Applicable
polypeptide	ENSMUSP00000023830	Ensembl \| MGI Sequence Detail	297	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000011530 dehydrodolichyl diphosphate synthase complex subunit NUS1

(term hierarchy)
EC

2.5.1.87
InterPro Domains

IPR001441 Decaprenyl diphosphate synthase-like

IPR036424 Decaprenyl diphosphate synthase-like superfamily

IPR038887 Dehydrodolichyl diphosphate synthase complex subunit Nus1
GlyGen

Q99LJ8 2 sites

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All nucleic 144

cDNA 143

Primer pair 1

Microarray probesets 6

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MGI:1919284, MGI:1933145, MGI:2143731, MGI:2143850

Summaries

All 51

Developmental Gene Expression 1

Gene Ontology 8

Phenotypes 21
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:338841 Fang Z, et al., NOGOB receptor deficiency increases cerebrovascular permeability and hemorrhage via impairing histone acetylation-mediated CCM1/2 expression. J Clin Invest. 2022 May 2;132(9):e151382

TSS for Nus1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr93302	Chr10:52293628-52293676 (+)	9 bp
Tssr93303	Chr10:52293685-52293707 (+)	53 bp
Tssr93304	Chr10:52293797-52293808 (+)	160 bp
Tssr93305	Chr10:52293967-52294014 (+)	348 bp
Tssr93306	Chr10:52294127-52294138 (+)	490 bp
Tssr93307	Chr10:52299857-52299862 (+)	6,217 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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