Spata46 spermatogenesis associated 46 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spata46provided by MGI
Official Full Name: spermatogenesis associated 46provided by MGI
Primary source: MGI:MGI:1924175
See related: Ensembl:ENSMUSG00000042800 AllianceGenome:MGI:1924175
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: 1700015E13Rik
Summary: Involved in fusion of sperm to egg plasma membrane involved in single fertilization and spermatogenesis. Located in nuclear membrane. Orthologous to human SPATA46 (spermatogenesis associated 46). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward testis adult (RPKM 305.5) See more
Orthologs: human all
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Genomic context

Location:: 1 H3; 1 76.84 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (170136388..170139694)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (170308819..170312125)

Chromosome 1 - NC_000067.7 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 the present study, we demonstrated that deletion of Spata46, a gene encoding a novel protein of unknown function found in mouse testis, was responsible for male subfertility, and the cause of subfertility was characterized as abnormal sperm head shape and a failure of sperm-egg fusion.
Title: Deficiency of SPATA46, a Novel Nuclear Membrane Protein, Causes Subfertility in Male Mice.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in fertilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nuclear membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear membrane	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: spermatogenesis-associated protein 46

Names: uncharacterized protein C1orf111 homolog

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.