Espnl espin-like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Espnlprovided by MGI
Official Full Name: espin-likeprovided by MGI
Primary source: MGI:MGI:2685402
See related: Ensembl:ENSMUSG00000049515 AllianceGenome:MGI:2685402
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: Gm556
Summary: Enables actin filament binding activity. Involved in sensory perception of sound. Is active in stereocilium tip. Is expressed in metanephros; saccule; submandibular gland; and testis. Orthologous to human ESPNL (espin like). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 1 D; 1 46.08 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (91249845..91277130)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (91322075..91348303)

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?

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Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Targeted (2)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in stereocilium tip	EXP Inferred from Experiment more info	PubMed
located_in stereocilium tip	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: espin-like protein

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_001033292.4 → NP_001028464.1 espin-like protein

See identical proteins and their annotated locations for NP_001028464.1

Status: VALIDATED

Source sequence(s)

AC110510

Consensus CDS

CCDS15160.1

UniProtKB/Swiss-Prot

Q3UYR4

UniProtKB/TrEMBL

H3BLK9

Related

ENSMUSP00000086294.4, ENSMUST00000088904.10

Conserved Domains (4) summary

cd00204
Location:204 → 323

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:209 → 301

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:72 → 124

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:204 → 236

ANK; ANK repeat [structural motif]