Enkur enkurin, TRPC channel interacting protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Enkurprovided by MGI
Official Full Name: enkurin, TRPC channel interacting proteinprovided by MGI
Primary source: MGI:MGI:1918483
See related: Ensembl:ENSMUSG00000026679 AllianceGenome:MGI:1918483
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: 4933434I06Rik
Summary: Enables calmodulin binding activity. Involved in flagellated sperm motility. Acts upstream of or within establishment of left/right asymmetry. Located in 9+0 motile cilium; acrosomal vesicle; and sperm principal piece. Is active in axonemal B tubule inner sheath. Is expressed in lung; node; testis; and trachea. Orthologous to human ENKUR (enkurin, TRPC channel interacting protein). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis adult (RPKM 14.0), CNS E18 (RPKM 1.9) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 14.82 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (21185542..21210176, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (21180731..21205365, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Sperm flagella of mice homozygous for a mutated allele displayed only asymmetric bending, nonprogressive motility, and a loss of Ca2+-responsiveness following demembranation. We propose that Enkurin is part of a flagellar Ca2+-sensor that regulates bending and that the motility defects following mutation of the locus are the proximate cause of subfertility.
Title: The flagellar protein Enkurin is required for mouse sperm motility and for transport through the female reproductive tract.
4933434I06Rik is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
Title: Tissue expression patterns identify mouse cilia genes.
Data suggest that enkurin is an adaptor that functions to localize a Ca2+ sensitive signal transduction machinery in sperm to a Ca2+-permeable ion channel [enkurin]
Title: Enkurin is a novel calmodulin and TRPC channel binding protein in sperm.

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Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU016229 (e-PCR)
- UniSTS:165151

NoName (e-PCR)
- UniSTS:234333

NoName (e-PCR)
- UniSTS:488837

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within establishment of left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in 9+0 motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in acrosomal vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in axonemal B tubule inner sheath	IDA Inferred from Direct Assay more info	PubMed
is_active_in axonemal microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in axonemal microtubule	ISO Inferred from Sequence Orthology more info
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm flagellum	EXP Inferred from Experiment more info	PubMed
is_active_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in sperm principal piece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: enkurin

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.