Espn espin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Espnprovided by MGI
Official Full Name: espinprovided by MGI
Primary source: MGI:MGI:1861630
See related: Ensembl:ENSMUSG00000028943 AllianceGenome:MGI:1861630
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: je
Summary: Predicted to enable SH3 domain binding activity and actin filament binding activity. Involved in negative regulation of cytoskeleton organization. Acts upstream of or within locomotory behavior; parallel actin filament bundle assembly; and positive regulation of filopodium assembly. Located in actin cytoskeleton; brush border; and stereocilium. Is active in stereocilium tip. Is expressed in organ of Corti; seminiferous tubule; and seminiferous tubule epithelium. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 36. Orthologous to human ESPN (espin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in duodenum adult (RPKM 67.5), small intestine adult (RPKM 49.0) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 E2; 4 82.9 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (152204788..152236871, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (152120331..152152414, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Espin overexpression causes stereocilia defects and provides an anti-capping effect on actin polymerization.
Title: Espin overexpression causes stereocilia defects and provides an anti-capping effect on actin polymerization.
Findings suggest that Lhx1/5, through regulating Espin protein expression, control dendritogenesis and spine morphogenesis in postnatal Purkinje cells (PCs).
Title: Lhx1/5 control dendritogenesis and spine morphogenesis of Purkinje cells via regulation of Espin.
We demonstrated for the first time that espin regulates both anchorage-dependent growth and anchorage-independent growth in melanoma cells through G1 arrest and modulates the expression and/or activity of p21Cip1, p27Kip1, Erk, and Akt.
Title: An actin-binding protein espin is a growth regulator for melanoma.
When myosin IIIB (MYO3B) is coexpressed with espin-1 (ESPN1), MYO3B targets and carries ESPN1 to COS7 cell filopodia tips. This tip localization is lost when the ESPN1 C terminus actin-binding site is removed.
Title: Myosin IIIB uses an actin-binding motif in its espin-1 cargo to reach the tips of actin protrusions.
espin actin-bundling proteins are required for the assembly and stabilization of the stereociliary parallel actin bundle.
Title: Roles of the espin actin-bundling proteins in the morphogenesis and stabilization of hair cell stereocilia revealed in CBA/CaJ congenic jerker mice.
Genetic and physical maps of jerker (Espn(je)) on mouse chromosome 4
Title: Genetic and physical maps of jerker (Espn(je)) on mouse chromosome 4.
Data show that espin actin-bundling proteins, which are the target of the jerker deafness mutation, caused a dramatic, concentration-dependent lengthening of LLC-PK1-CL4 cell microvilli and their parallel actin bundles.
Title: Espin cross-links cause the elongation of microvillus-type parallel actin bundles in vivo.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Espn (e-PCR), detects polymorphism
- UniSTS:243209

NoName (e-PCR)
- UniSTS:224935

NoName (e-PCR)
- UniSTS:224487

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within actin filament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament network formation	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microvillar actin bundle assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within parallel actin filament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of filopodium assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of filopodium assembly	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within 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 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
located_in brush border	TAS Traceable Author Statement more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
part_of filamentous actin	ISO Inferred from Sequence Orthology more info
located_in microvillus	ISO Inferred from Sequence Orthology more info
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium	ISO Inferred from Sequence Orthology more info
located_in stereocilium bundle	IDA Inferred from Direct Assay more info	PubMed
is_active_in stereocilium tip	EXP Inferred from Experiment more info	PubMed
located_in stereocilium tip	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: espin

Names: actin cytoskeletal regulatory protein; ectoplasmic specialization protein; jerker

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_019585.3 → NP_062531.2 espin isoform 6

See identical proteins and their annotated locations for NP_062531.2

Status: VALIDATED

Description

Transcript Variant: This variant (6) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 6 which is shorter than isoform 1.

Source sequence(s)

AK002284, AL772240, CJ319194

Consensus CDS

CCDS18994.1

UniProtKB/TrEMBL

Q811J1, Q9DD12

Related

ENSMUSP00000037982.8, ENSMUST00000049305.14

Conserved Domains (1) summary

pfam02205
Location:23 → 48

WH2; WH2 motif
NM_207687.3 → NP_997570.1 espin isoform 1

See identical proteins and their annotated locations for NP_997570.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).

Source sequence(s)

AL772240

Consensus CDS

CCDS18989.1

UniProtKB/Swiss-Prot

A2AK06, A2AK09, A2AK13, B1AWP3, B1AWP6, B1AWQ2, Q6GYS0, Q6GYS1, Q80ZC0, Q80ZC1, Q80ZC2, Q80ZC3, Q9ET47, Q9QY27

Related

ENSMUSP00000030785.9, ENSMUST00000030785.15

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 ...

pfam12796
Location:210 → 302

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:72 → 124

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:103 → 135

ANK; ANK repeat [structural motif]
NM_207688.2 → NP_997571.1 espin isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2 which is shorter than isoform 1.

Source sequence(s)

AK146701, AL772240, BY739473, CJ194793, CJ319194

Consensus CDS

CCDS18990.1

UniProtKB/TrEMBL

B1AWP8

Related

ENSMUSP00000081131.6, ENSMUST00000084114.12
NM_207689.2 → NP_997572.1 espin isoform 4

See identical proteins and their annotated locations for NP_997572.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 4 which is shorter than isoform 1.

Source sequence(s)

AK146701, AL772240, CJ194793, CJ319194

Consensus CDS

CCDS18991.1

UniProtKB/TrEMBL

B1AWP7

Related

ENSMUSP00000078951.7, ENSMUST00000080042.13
NM_207690.2 → NP_997573.1 espin isoform 5

See identical proteins and their annotated locations for NP_997573.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 5 which is shorter than isoform 1.

Source sequence(s)

AK146701, AL772240, CJ194793, CJ319194

Consensus CDS

CCDS18992.1

UniProtKB/TrEMBL

B1AWP9

Related

ENSMUSP00000101282.3, ENSMUST00000105657.9
NM_207691.2 → NP_997574.2 espin isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3 which is shorter than isoform 1.

Source sequence(s)

AK146701, AL772240, BY739473, CJ194793, CJ319194

Consensus CDS

CCDS18993.1

UniProtKB/TrEMBL

B1AWQ0

Related

ENSMUSP00000065545.8, ENSMUST00000070018.14

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

152204788..152236871 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006539060.3 → XP_006539123.1 espin isoform X2

Related

ENSMUSP00000101284.3, ENSMUST00000105659.9

Conserved Domains (3) summary

sd00045
Location:103 → 135

ANK; ANK repeat [structural motif]

pfam12796
Location:176 → 266

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:8 → 56

Ank_4; Ankyrin repeats (many copies)
XM_006539063.3 → XP_006539126.1 espin isoform X4

Related

ENSMUSP00000101283.2, ENSMUST00000105658.8

Conserved Domains (3) summary

sd00045
Location:103 → 135

ANK; ANK repeat [structural motif]

pfam12796
Location:176 → 266

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:8 → 56

Ank_4; Ankyrin repeats (many copies)
XM_006539061.3 → XP_006539124.1 espin isoform X3

Conserved Domains (3) summary

sd00045
Location:103 → 135

ANK; ANK repeat [structural motif]

pfam12796
Location:176 → 266

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:8 → 56

Ank_4; Ankyrin repeats (many copies)
XM_006539059.3 → XP_006539122.1 espin isoform X1

Conserved Domains (4) summary

PHA02682
Location:650 → 757

PHA02682; ORF080 virion core protein; Provisional

sd00045
Location:103 → 135

ANK; ANK repeat [structural motif]

pfam12796
Location:176 → 266

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:8 → 56

Ank_4; Ankyrin repeats (many copies)