• Gene id: 83715

Gene Summary

• Gene Symbol: ESPN   Gene   UCSC   Ensembl
• Aliases: DFNB36, LP2654, USH1M
• Gene name: espin
• Alternate names: espin, autosomal recessive deafness type 36 protein, ectoplasmic specialization protein,
• Gene location: 1p36.31 (6424775: 6461366)     Exons: 3     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 606351

Protein Summary

• Protein general information: B1AK53  
  • Name: Espin (Autosomal recessive deafness type 36 protein) (Ectoplasmic specialization protein)
  • Length: 854  
  • Mass: 91733
• Sequence:

  MALEQALQAARQGELDVLRSLHAAGLLGPSLRDPLDALPVHHAARAGKLHCLRFLVEEAALPAAARARNGATPAH
  DASATGHLACLQWLLSQGGCRVQDKDNSGATVLHLAARFGHPEVVNWLLHHGGGDPTAATDMGALPIHYAAAKGD
  FPSLRLLVEHYPEGVNAQTKNGATPLYLACQEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWL
  VSCTDVSLSEQDKDGATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAAENGELECCQILVVNGAELDV
  RDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTTVSVQPLNFDLSSPTS
  TLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGLPRGTIGKPTPPPPPPSFPPPPPPPGTQLPP
  PPPGYPAPKPPVGPQAADIYMQTKNKLRHVETEALKKELSSCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGR
  CPGETLAARPGMAHSEEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPP
  PPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLT
  TVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPI
  PEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSE
  KLRTLGYDESKLAPWQRQVILKKGDIAKY

• Structural information:
  • Protein Domains: (651..66-)
    (/note="WH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR030233  IPR003124  
  • Prosite: PS50297 PS50088 PS51082
  • STRING: ENSP00000367059
• Other Databases: GeneCards:  ESPN  Malacards:  ESPN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:0005902	microvillus	IDA	cellular component
GO:0032420	stereocilium	IDA	cellular component
GO:0032426	stereocilium tip	ISS	cellular component
GO:0030034	microvillar actin bundle assembly	IMP	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0051491	positive regulation of filopodium assembly	IEA	biological process
GO:0032426	stereocilium tip	IEA	cellular component
GO:0030046	parallel actin filament bundle assembly	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0007626	locomotory behavior	IEA	biological process
GO:0051494	negative regulation of cytoskeleton organization	IEA	biological process
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0032421	stereocilium bundle	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0031941	filamentous actin	ISS	cellular component
GO:0005903	brush border	ISS	cellular component
GO:0051015	actin filament binding	ISS	molecular function
GO:0017124	SH3 domain binding	ISS	molecular function

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray