Ndc1 NDC1 transmembrane nucleoporin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndc1provided by MGI
Official Full Name: NDC1 transmembrane nucleoporinprovided by MGI
Primary source: MGI:MGI:1920037
See related: Ensembl:ENSMUSG00000028614 AllianceGenome:MGI:1920037
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: sks; Tmem48; 2810475A17Rik
Summary: Predicted to enable protein-macromolecule adaptor activity. Predicted to be a structural constituent of nuclear pore. Acts upstream of or within homologous chromosome pairing at meiosis and spermatogenesis. Located in cytoplasm. Part of nuclear pore. Is expressed in several structures, including forelimb bud; gonad; lung; and spleen. Orthologous to human NDC1 (NDC1 transmembrane nucleoporin). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 9.4), limb E14.5 (RPKM 9.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C7; 4 50.18 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (107225244..107273543)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (107368047..107416346)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In mice sperm with mutated SEPT12, NDC1 dispersed around the manchette region of the sperm head and annulus, compared with concentrating at the sperm neck of wild-type sperm.
Title: SEPT12-NDC1 Complexes Are Required for Mammalian Spermiogenesis.
A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) mice.
Title: A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) mice.

Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description	Tests
skeletal fusions with sterility GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)
Spontaneous (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB401137 (e-PCR)
- UniSTS:207652

NoName (e-PCR)
- UniSTS:234989

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of nuclear pore	IEA Inferred from Electronic Annotation more info
enables structural constituent of nuclear pore	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within homologous chromosome pairing at meiosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in nuclear pore complex assembly	IEA Inferred from Electronic Annotation more info
involved_in nuclear pore complex assembly	ISO Inferred from Sequence Orthology more info
involved_in nuclear pore localization	IEA Inferred from Electronic Annotation more info
involved_in nuclear pore localization	ISO Inferred from Sequence Orthology more info
involved_in nuclear pore organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
part_of nuclear pore	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear pore	ISO Inferred from Sequence Orthology more info
part_of nuclear pore	NAS Non-traceable Author Statement more info	PubMed
part_of nuclear pore transmembrane ring	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: nucleoporin NDC1

Names: transmembrane protein 48

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_028355.4 → NP_082631.1 nucleoporin NDC1

See identical proteins and their annotated locations for NP_082631.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the protein-coding transcript.

Source sequence(s)

AL626784

Consensus CDS

CCDS18438.1

UniProtKB/Swiss-Prot

Q8VCB1

Related

ENSMUSP00000120365.2, ENSMUST00000139560.8

Conserved Domains (1) summary

pfam09531
Location:21 → 665

Ndc1_Nup; Nucleoporin protein Ndc1-Nup