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Protein

Espin

Gene

ESPN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Multifunctional actin-bundling protein. 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 (By similarity).By similarity

GO - Molecular functioni

  • actin filament binding Source: UniProtKB
  • SH3 domain binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Hearing

Keywords - Ligandi

Actin-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Espin
Alternative name(s):
Autosomal recessive deafness type 36 protein
Ectoplasmic specialization protein
Gene namesi
Name:ESPN
Synonyms:DFNB36
ORF Names:LP2654
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:13281. ESPN.

Subcellular locationi

GO - Cellular componenti

  • brush border Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
  • filamentous actin Source: UniProtKB
  • microvillus Source: UniProtKB-SubCell
  • stereocilium tip Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients.
See also OMIM:609006
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043453719S → R in DFNB36; irregular microvillar organization. 1 PublicationCorresponds to variant rs121908134dbSNPEnsembl.1
Natural variantiVAR_043454744D → N in DFNB36; irregular microvillar organization. 1 PublicationCorresponds to variant rs121908135dbSNPEnsembl.1
Natural variantiVAR_043455774R → Q in DFNB36; sporadic case with mild phenotype; unknown pathological significance. 1 PublicationCorresponds to variant rs121908136dbSNPEnsembl.1
Natural variantiVAR_043456848Missing in DFNB36; severe phenotype; severe impairment of microvillar elongation; espin is less efficiently targeted to the microvilli and accumulates in the nucleus. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi83715.
MalaCardsiESPN.
MIMi609006. phenotype.
OpenTargetsiENSG00000187017.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA27885.

Polymorphism and mutation databases

BioMutaiESPN.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003346661 – 854EspinAdd BLAST854

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei338PhosphoserineBy similarity1
Modified residuei342PhosphoserineBy similarity1
Modified residuei515PhosphoserineBy similarity1
Modified residuei647PhosphoserineBy similarity1
Modified residuei690PhosphoserineBy similarity1
Modified residuei696PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiB1AK53.
MaxQBiB1AK53.
PaxDbiB1AK53.
PRIDEiB1AK53.

PTM databases

iPTMnetiB1AK53.
PhosphoSitePlusiB1AK53.

Expressioni

Gene expression databases

BgeeiENSG00000187017.
CleanExiHS_ESPN.
ExpressionAtlasiB1AK53. baseline and differential.
GenevisibleiB1AK53. HS.

Organism-specific databases

HPAiHPA028674.
HPA060220.

Interactioni

Subunit structurei

Monomer. Binds F-actin in a Ca2+-resistant fashion. Interacts (via N-terminal) with BAIAP2 (via SH3-domain). Interacts with PFN2.By similarity

GO - Molecular functioni

  • actin filament binding Source: UniProtKB
  • SH3 domain binding Source: UniProtKB

Protein-protein interaction databases

STRINGi9606.ENSP00000367059.

Structurei

3D structure databases

ProteinModelPortaliB1AK53.
SMRiB1AK53.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1 – 31ANK 1Add BLAST31
Repeati35 – 64ANK 2Add BLAST30
Repeati69 – 99ANK 3Add BLAST31
Repeati103 – 133ANK 4Add BLAST31
Repeati137 – 167ANK 5Add BLAST31
Repeati171 – 201ANK 6Add BLAST31
Repeati205 – 235ANK 7Add BLAST31
Repeati239 – 268ANK 8Add BLAST30
Repeati271 – 300ANK 9Add BLAST30
Domaini651 – 668WH2PROSITE-ProRule annotationAdd BLAST18

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili756 – 830Sequence analysisAdd BLAST75

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi428 – 730Pro-richAdd BLAST303
Compositional biasi768 – 825Glu-richAdd BLAST58

Domaini

The WH2-domain binds actin monomer and mediates actin bundle assembly.By similarity

Sequence similaritiesi

Contains 9 ANK repeats.PROSITE-ProRule annotation
Contains 1 WH2 domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00600000084407.
HOGENOMiHOG000049230.
HOVERGENiHBG100662.
InParanoidiB1AK53.
OMAiHNGCAAD.
OrthoDBiEOG091G056N.
PhylomeDBiB1AK53.
TreeFamiTF326392.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR030233. Espn.
IPR003124. WH2_dom.
[Graphical view]
PANTHERiPTHR24153:SF14. PTHR24153:SF14. 2 hits.
PfamiPF12796. Ank_2. 3 hits.
PF02205. WH2. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 8 hits.
SM00246. WH2. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 6 hits.
PS51082. WH2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: B1AK53-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MALEQALQAA RQGELDVLRS LHAAGLLGPS LRDPLDALPV HHAARAGKLH
60 70 80 90 100
CLRFLVEEAA LPAAARARNG ATPAHDASAT GHLACLQWLL SQGGCRVQDK
110 120 130 140 150
DNSGATVLHL AARFGHPEVV NWLLHHGGGD PTAATDMGAL PIHYAAAKGD
160 170 180 190 200
FPSLRLLVEH YPEGVNAQTK NGATPLYLAC QEGHLEVTQY LVQECGADPH
210 220 230 240 250
ARAHDGMTPL HAAAQMGHSP VIVWLVSCTD VSLSEQDKDG ATAMHFAASR
260 270 280 290 300
GHTKVLSWLL LHGGEISADL WGGTPLHDAA ENGELECCQI LVVNGAELDV
310 320 330 340 350
RDRDGYTAAD LSDFNGHSHC TRYLRTVENL SVEHRVLSRD PSAELEAKQP
360 370 380 390 400
DSGMSSPNTT VSVQPLNFDL SSPTSTLSNY DSCSSSHSSI KGQHPPCGLS
410 420 430 440 450
SARAADIQSY MDMLNPELGL PRGTIGKPTP PPPPPSFPPP PPPPGTQLPP
460 470 480 490 500
PPPGYPAPKP PVGPQAADIY MQTKNKLRHV ETEALKKELS SCDGHDGLRR
510 520 530 540 550
QDSSRKPRAF SKQPSTGDYY RQLGRCPGET LAARPGMAHS EEVRARQPAR
560 570 580 590 600
AGCPRLGPAA RGSLEGPSAP PQAALLPGNH VPNGCAADPK ASRELPPPPP
610 620 630 640 650
PPPPPLPEAA SSPPPAPPLP LESAGPGCGQ RRSSSSTGST KSFNMMSPTG
660 670 680 690 700
DNSELLAEIK AGKSLKPTPQ SKGLTTVFSG IGQPAFQPDS PLPSVSPALS
710 720 730 740 750
PVRSPTPPAA GFQPLLNGSL VPVPPTTPAP GVQLDVEALI PTHDEQGRPI
760 770 780 790 800
PEWKRQVMVR KMQLKMQEEE EQRRKEEEEE ARLASMPAWR RDLLRKKLEE
810 820 830 840 850
EREQKRKEEE RQKQEELRRE KEQSEKLRTL GYDESKLAPW QRQVILKKGD

IAKY
Length:854
Mass (Da):91,733
Last modified:April 8, 2008 - v1
Checksum:i34B771071F733B62
GO
Isoform 2 (identifier: B1AK53-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-536: Missing.
     543-572: Missing.

Note: No experimental confirmation available.
Show »
Length:288
Mass (Da):31,636
Checksum:i35E402CA6E9C0AB3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti593R → G in AAP34481 (PubMed:15498874).Curated1
Sequence conflicti597P → L in CAB66814 (PubMed:11230166).Curated1
Sequence conflicti678F → L in AAD24480 (Ref. 5) Curated1
Sequence conflicti773 – 774RR → SW in AAD24480 (Ref. 5) Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043451322R → H.Corresponds to variant rs3817911dbSNPEnsembl.1
Natural variantiVAR_043452323Y → C.Corresponds to variant rs3817910dbSNPEnsembl.1
Natural variantiVAR_043453719S → R in DFNB36; irregular microvillar organization. 1 PublicationCorresponds to variant rs121908134dbSNPEnsembl.1
Natural variantiVAR_043454744D → N in DFNB36; irregular microvillar organization. 1 PublicationCorresponds to variant rs121908135dbSNPEnsembl.1
Natural variantiVAR_043455774R → Q in DFNB36; sporadic case with mild phenotype; unknown pathological significance. 1 PublicationCorresponds to variant rs121908136dbSNPEnsembl.1
Natural variantiVAR_043456848Missing in DFNB36; severe phenotype; severe impairment of microvillar elongation; espin is less efficiently targeted to the microvilli and accumulates in the nucleus. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0337281 – 536Missing in isoform 2. 1 PublicationAdd BLAST536
Alternative sequenceiVSP_033729543 – 572Missing in isoform 2. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136880 mRNA. Translation: CAB66814.1.
AY203958 mRNA. Translation: AAP34481.1.
AL031848, AL158217 Genomic DNA. Translation: CAI19773.1.
AL158217, AL031848 Genomic DNA. Translation: CAI22163.1.
CH471130 Genomic DNA. Translation: EAW71537.1.
AF134401 mRNA. Translation: AAD24480.1.
CCDSiCCDS70.1. [B1AK53-1]
RefSeqiNP_113663.2. NM_031475.2. [B1AK53-1]
UniGeneiHs.744222.

Genome annotation databases

EnsembliENST00000377828; ENSP00000367059; ENSG00000187017. [B1AK53-1]
ENST00000461727; ENSP00000465308; ENSG00000187017. [B1AK53-2]
GeneIDi83715.
KEGGihsa:83715.
UCSCiuc001amy.3. human. [B1AK53-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136880 mRNA. Translation: CAB66814.1.
AY203958 mRNA. Translation: AAP34481.1.
AL031848, AL158217 Genomic DNA. Translation: CAI19773.1.
AL158217, AL031848 Genomic DNA. Translation: CAI22163.1.
CH471130 Genomic DNA. Translation: EAW71537.1.
AF134401 mRNA. Translation: AAD24480.1.
CCDSiCCDS70.1. [B1AK53-1]
RefSeqiNP_113663.2. NM_031475.2. [B1AK53-1]
UniGeneiHs.744222.

3D structure databases

ProteinModelPortaliB1AK53.
SMRiB1AK53.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000367059.

PTM databases

iPTMnetiB1AK53.
PhosphoSitePlusiB1AK53.

Polymorphism and mutation databases

BioMutaiESPN.

Proteomic databases

EPDiB1AK53.
MaxQBiB1AK53.
PaxDbiB1AK53.
PRIDEiB1AK53.

Protocols and materials databases

DNASUi83715.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377828; ENSP00000367059; ENSG00000187017. [B1AK53-1]
ENST00000461727; ENSP00000465308; ENSG00000187017. [B1AK53-2]
GeneIDi83715.
KEGGihsa:83715.
UCSCiuc001amy.3. human. [B1AK53-1]

Organism-specific databases

CTDi83715.
DisGeNETi83715.
GeneCardsiESPN.
GeneReviewsiESPN.
H-InvDBHIX0000079.
HIX0028654.
HGNCiHGNC:13281. ESPN.
HPAiHPA028674.
HPA060220.
MalaCardsiESPN.
MIMi606351. gene.
609006. phenotype.
neXtProtiNX_B1AK53.
OpenTargetsiENSG00000187017.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA27885.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00600000084407.
HOGENOMiHOG000049230.
HOVERGENiHBG100662.
InParanoidiB1AK53.
OMAiHNGCAAD.
OrthoDBiEOG091G056N.
PhylomeDBiB1AK53.
TreeFamiTF326392.

Miscellaneous databases

ChiTaRSiESPN. human.
GeneWikiiEspin_(protein).
GenomeRNAii83715.
PROiB1AK53.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187017.
CleanExiHS_ESPN.
ExpressionAtlasiB1AK53. baseline and differential.
GenevisibleiB1AK53. HS.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR030233. Espn.
IPR003124. WH2_dom.
[Graphical view]
PANTHERiPTHR24153:SF14. PTHR24153:SF14. 2 hits.
PfamiPF12796. Ank_2. 3 hits.
PF02205. WH2. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 8 hits.
SM00246. WH2. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 6 hits.
PS51082. WH2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiESPN_HUMAN
AccessioniPrimary (citable) accession number: B1AK53
Secondary accession number(s): Q6XYB2, Q9H0A2, Q9Y329
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: April 8, 2008
Last modified: November 2, 2016
This is version 86 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.