Espn espin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Espnprovided by RGD
Official Full Name: espinprovided by RGD
Primary source: RGD:620652
See related: EnsemblRapid:ENSRNOG00000010270 AllianceGenome:RGD:620652
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Je
Summary: Enables SH3 domain binding activity and actin filament binding activity. Predicted to be involved in microvillar actin bundle assembly and negative regulation of cytoskeleton organization. Predicted to act upstream of or within locomotory behavior; parallel actin filament bundle assembly; and positive regulation of filopodium assembly. Located in several cellular components, including actin cytoskeleton; brush border; and microvillus. Part of filamentous actin. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 36. Orthologous to human ESPN (espin). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Testes (RPKM 77.9) and Kidney (RPKM 58.9) See more
Orthologs: human mouse all
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Genomic context

Location:: 5q36

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	5	NC_086023.1 (167909271..167943168, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	5	NC_051340.1 (162626560..162660439, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	5	NC_005104.4 (169293356..169331338, complement)

Chromosome 5 - NC_086023.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This study provides the basis for understanding the role of myosin IIIa and espin 1 in regulating stereocilia length.
Title: Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments.
Localization of espins to a large proportion of rat type I spiral ganglion neurons (SGNs) and their projections to the cochlear nucleus.
Title: Espin actin-cytoskeletal proteins are in rat type I spiral ganglion neurons and include splice-isoforms with a functional nuclear localization signal.
Espin is expressed in the epididymis and is regulated by androgens.
Title: Microvillar size and espin expression in principal cells of the adult rat epididymis are regulated by androgens.
Following hypophysectomy, the actin cytoskeleton of the Sertoli cell shifts to a predominantly depolymerized state, perhaps in part because of decreases in profilin II and espin gene products.
Title: An ex vivo analysis of Sertoli cell actin dynamics following gonadotropic hormone withdrawal.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin binding	IEA Inferred from Electronic Annotation more info
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

Process	Evidence Code	Pubs
involved_in actin filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin filament bundle assembly	ISO Inferred from Sequence Orthology more info
involved_in actin filament bundle assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in actin filament organization	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within locomotory behavior	ISO Inferred from Sequence Orthology more info
involved_in microvillar actin bundle assembly	IEA Inferred from Electronic Annotation more info
involved_in microvillar actin bundle assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within parallel actin filament bundle assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of filopodium assembly	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in brush border	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
part_of filamentous actin	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	IEA Inferred from Electronic Annotation more info
located_in microvillus	ISO Inferred from Sequence Orthology more info
located_in stereocilium	IEA Inferred from Electronic Annotation more info
located_in stereocilium	ISO Inferred from Sequence Orthology more info
located_in stereocilium bundle	ISO Inferred from Sequence Orthology more info
is_active_in stereocilium tip	ISO Inferred from Sequence Orthology more info
located_in stereocilium tip	ISO Inferred from Sequence Orthology more info
located_in stereocilium tip	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: espin

Names: Jerker, deafness locus; actin cytoskeletal regulatory protein; ectoplasmic specialization 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_019622.2 → NP_062568.2 espin

Status: VALIDATED

Source sequence(s)

JAXUCZ010000005

UniProtKB/TrEMBL

F1LQ34

Conserved Domains (5) summary

cd00204
Location:166 → 291

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 ...

pfam02205
Location:633 → 658

WH2; WH2 motif

pfam12796
Location:210 → 302

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:72 → 124

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:205 → 237

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086023.1 Reference GRCr8

Range

167909271..167943168 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039110681.2 → XP_038966609.1 espin isoform X2

Conserved Domains (3) summary

sd00045
Location:205 → 237

ANK; ANK repeat [structural motif]

pfam02205
Location:679 → 704

WH2; WH2 motif

pfam12796
Location:176 → 266

Ank_2; Ankyrin repeats (3 copies)
XM_008764380.3 → XP_008762602.1 espin isoform X5

Conserved Domains (5) summary

cd00204
Location:166 → 291

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 ...

pfam02205
Location:636 → 661

WH2; WH2 motif

pfam12796
Location:210 → 302

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:72 → 124

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:205 → 237

ANK; ANK repeat [structural motif]
XM_008764377.3 → XP_008762599.1 espin isoform X3

UniProtKB/TrEMBL

A0A8I6ARF5

Related

ENSRNOP00000097437.1, ENSRNOT00000117287.2

Conserved Domains (4) summary

cd00204
Location:166 → 291

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 ...

pfam02205
Location:666 → 691

WH2; WH2 motif

pfam12796
Location:210 → 302

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:205 → 237

ANK; ANK repeat [structural motif]
XM_039110682.2 → XP_038966610.1 espin isoform X4

Conserved Domains (3) summary

sd00045
Location:205 → 237

ANK; ANK repeat [structural motif]

pfam02205
Location:652 → 677

WH2; WH2 motif

pfam12796
Location:176 → 266

Ank_2; Ankyrin repeats (3 copies)
XM_039110680.2 → XP_038966608.1 espin isoform X1

Conserved Domains (3) summary

sd00045
Location:205 → 237

ANK; ANK repeat [structural motif]

pfam02205
Location:682 → 707

WH2; WH2 motif

pfam12796
Location:176 → 266

Ank_2; Ankyrin repeats (3 copies)