ESPN espin [Homo sapiens (human)] - Gene

Summary

Official Symbol: ESPNprovided by HGNC
Official Full Name: espinprovided by HGNC
Primary source: HGNC:HGNC:13281
See related: Ensembl:ENSG00000187017 MIM:606351; AllianceGenome:HGNC:13281
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: USH1M; DFNB36; LP2654
Summary: This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]
Expression: Biased expression in testis (RPKM 9.0), skin (RPKM 5.5) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.31

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (6424776..6461370)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (5950417..5987012)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (6484836..6521004)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

whirlin-espin interaction is important for the architecture of the USH2 complex and actin bundles cross-linked by espin. Our demonstration of whirlin N-terminal fragment interaction with espin, is significantly novel, providing insight into how these two proteins interact to form the USH2 complex.
Title: Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II.
ur study uncovers an additional USH gene, assigns the USH1 phenotype to a variant of ESPN and provides a 12th molecular component to the USH proteome
Title: Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.
A significant inverse correlation was observed between miR-612 and Espin protein expression in melanoma tissues.
Title: Overexpression of microRNA-612 Restrains the Growth, Invasion, and Tumorigenesis of Melanoma Cells by Targeting Espin.
The utricles were then treated with a gamma-secretase inhibitor, followed by espin or control transduction and histochemistry. Although gamma-secretase inhibition increased the number of HCs, few had stereociliary arrays. In contrast, 46 h after espin1 transduction, a significant increase in hair-bundle-like structures was observed
Title: Hair cell stereociliary bundle regeneration by espin gene transduction after aminoglycoside damage and hair cell induction by Notch inhibition.
The structures of Myo3 in complex with Espin1 not only elucidate the mechanism of the binding, but also reveal a Myo3-induced release of Espin1 auto-inhibition mechanism.
Title: Myosin III-mediated cross-linking and stimulation of actin bundling activity of Espin.
The espin actin-filament-binding site has a major effect on the formation and dynamics of actin bundles.
Title: Characterization and regulation of an additional actin-filament-binding site in large isoforms of the stereocilia actin-bundling protein espin.
Flies with mutations affecting the diaphanous,forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies
Title: Unique transgenic animal model for hereditary hearing loss.
A recessive ESPN mutation causing congenital hearing loss in a Morocan family was reported.
Title: A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
Here, we report a new activity of the espins, one that depends on their enigmatic WH2 domain: the ability to assemble a large actin bundle when targeted to a specific subcellular location.
Title: Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive nonsyndromic hearing loss 36 MedGen: C1837007 OMIM: 609006 GeneReviews: Genetic Hearing Loss Overview	Compare labs
Usher syndrome, type 1M MedGen: C5231434 OMIM: 618632 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH122540 (e-PCR)
- UniSTS:138542

RH92766 (e-PCR)
- UniSTS:89913

SHGC-33105 (e-PCR)
- UniSTS:5047

SHGC-74161 (e-PCR)
- UniSTS:40647

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed

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

Component	Evidence Code	Pubs
located_in brush border	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
part_of filamentous actin	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium tip	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: espin

Names: autosomal recessive deafness type 36 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.

Genomic

NG_015866.1 RefSeqGene

Range

4989..41157

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1281

mRNA and Protein(s)

NM_001367473.1 → NP_001354402.1 espin isoform 2

Status: REVIEWED

Source sequence(s)

AL031848, AL158217
NM_001367474.1 → NP_001354403.1 espin isoform 3

Status: REVIEWED

Source sequence(s)

AL031848, AL158217
NM_031475.3 → NP_113663.2 espin isoform 1

See identical proteins and their annotated locations for NP_113663.2

Status: REVIEWED

Source sequence(s)

AL031848, AL136880, AL158217, BM713713, HY016927

Consensus CDS

CCDS70.1

UniProtKB/Swiss-Prot

B1AK53, Q6XYB2, Q9H0A2, Q9Y329

Related

ENSP00000496593.1, ENST00000645284.1

Conserved Domains (5) summary

cd00204
Location:166 → 292

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:648 → 673

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:137 → 169

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

6424776..6461370

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017002433.2 → XP_016857922.1 espin isoform X5
XM_011542231.1 → XP_011540533.1 espin isoform X1

Conserved Domains (5) summary

cd00204
Location:166 → 292

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:627 → 652

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:137 → 169

ANK; ANK repeat [structural motif]
XM_011542232.1 → XP_011540534.1 espin isoform X2

Related

ENSP00000490186.1, ENST00000636330.1

Conserved Domains (5) summary

cd00204
Location:166 → 292

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:618 → 643

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:137 → 169

ANK; ANK repeat [structural motif]
XM_011542238.4 → XP_011540540.1 espin isoform X9

Conserved Domains (4) summary

cd00204
Location:166 → 292

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:137 → 169

ANK; ANK repeat [structural motif]
XM_011542237.1 → XP_011540539.1 espin isoform X8

Conserved Domains (4) summary

cd00204
Location:166 → 292

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:137 → 169

ANK; ANK repeat [structural motif]
XM_011542233.3 → XP_011540535.2 espin isoform X3
XM_047431542.1 → XP_047287498.1 espin isoform X4
XM_047431549.1 → XP_047287505.1 espin isoform X6
XM_047431551.1 → XP_047287507.1 espin isoform X6
XM_011542236.3 → XP_011540538.1 espin isoform X7

Conserved Domains (1) summary

pfam02205
Location:23 → 48

WH2; WH2 motif