Nup50 MGI Mouse Gene Detail - MGI:1351502

Symbol

Nup50
Name

nucleoporin 50
Synonyms

1700030K07Rik, Npap60

Feature Type

protein coding gene
IDs

MGI:1351502
NCBI Gene: 18141
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr15:84807612-84827164 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 40.25 cM
Mapping Data

5 experiments

SNPs within 2kb

629 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1351502	protein coding gene	Chr15:84800100-84827164 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022184	protein coding gene	Chr15:85734931-85754387 (+)
A/J	MGP_AJ_G0022143	protein coding gene	Chr15:82569427-82588962 (+)
AKR/J	MGP_AKRJ_G0022118	protein coding gene	Chr15:85000156-85019688 (+)
BALB/cJ	MGP_BALBcJ_G0022149	protein coding gene	Chr15:82698686-82718217 (+)
C3H/HeJ	MGP_C3HHeJ_G0021919	protein coding gene	Chr15:84945729-84965312 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022594	protein coding gene	Chr15:88996003-89016610 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020119	protein coding gene	Chr15:78924321-78943951 (+)
CAST/EiJ	MGP_CASTEiJ_G0021441	protein coding gene	Chr15:85737594-85757171 (+)
CBA/J	MGP_CBAJ_G0021886	protein coding gene	Chr15:91889342-91909067 (+)
DBA/2J	MGP_DBA2J_G0022013	protein coding gene	Chr15:82039282-82059090 (+)
FVB/NJ	MGP_FVBNJ_G0021992	protein coding gene	Chr15:81112087-81132163 (+)
LP/J	MGP_LPJ_G0022084	protein coding gene	Chr15:85890569-85910051 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022012	protein coding gene	Chr15:96668317-96687644 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022609	protein coding gene	Chr15:85004045-85024138 (+)
PWK/PhJ	MGP_PWKPhJ_G0021182	protein coding gene	Chr15:82051577-82071116 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021016	protein coding gene	Chr15:84713828-84733551 (+)
WSB/EiJ	MGP_WSBEiJ_G0021490	protein coding gene	Chr15:85496182-85516217 (+)

Human Ortholog

NUP50, nucleoporin 50

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NUP50, nucleoporin 50
Synonyms

NPAP60, NPAP60L
Links

HGNC:8065

NCBI Gene ID: 10762

neXtProt AC: NX_Q9UKX7

UniProt: Q9UKX7
Chr Location

22q13.31; chr22:45163925-45188017 (+) GRCh38

MGI Vertebrate Homology

Nup50 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NUP50
Gene Tree

Nup50

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References

1 with disease annotations

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
30 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

1
Gene trapped

11
Radiation induced

2
Targeted

3
Genomic Mutations

3 involving Nup50
Incidental Mutations

APF
Find Mice (IMSR)

19 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a targeted null mutation die perinatally, displaying neural tube defects, exencephaly, and intrauterine growth retardation.

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All GO Annotations

19
GO References

9

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

757
Tissues

34
cDNA Data

236
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nup50

ZFIN nup50

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All Sequences

67
RefSeq

4
UniProt

1
CCDS

CCDS27714.1

Ensembl

ENSMUSG00000016619 (Evidence)
NCBI Gene

18141

			Length	Strain/Species	Flank
genomic	ENSMUSG00000016619	Ensembl Gene Model \| MGI Sequence Detail	19553	C57BL/6J	± kb
transcript	ENSMUST00000230411	Ensembl \| MGI Sequence Detail	1900	Not Applicable
polypeptide	ENSMUSP00000155656	Ensembl \| MGI Sequence Detail	466	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000011519 nuclear pore complex protein Nup50

(term hierarchy)
GlyGen

Q9JIH2 1 site, 1 O-linked glycan (1 site)

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All nucleic 237

cDNA 236

Primer pair 1

Microarray probesets 6

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MGD-MRK-37517, MGI:108473, MGI:1916758, MGI:2145989

Summaries

All 69

Developmental Gene Expression 5

Diseases 1

Gene Ontology 9

Phenotypes 30
Earliest

J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
Latest

J:285676 Suzuki A, et al., Genes and microRNAs associated with mouse cleft palate: A systematic review and bioinformatics analysis. Mech Dev. 2018 Apr;150:21-27

TSS for Nup50:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr4676	Chr15:84807573-84807580 (+)	-35 bp
Tssr132481	Chr15:84807584-84807623 (+)	-8 bp
Tssr132482	Chr15:84807641-84807652 (+)	35 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/05/2024 MGI 6.24