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B1AK53 (ESPN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 64. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Espin
Alternative name(s):
Autosomal recessive deafness type 36 protein
Ectoplasmic specialization protein
Gene names
Name:ESPN
Synonyms:DFNB36
ORF Names:LP2654
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length854 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cytoplasmcytoskeleton By similarity. Cell projectionstereocilium By similarity. Cell projectionmicrovillus By similarity.

Domain

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

Involvement in disease

Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7

Sequence similarities

Contains 9 ANK repeats.

Contains 1 WH2 domain.

Ontologies

Keywords
   Biological processHearing
   Cellular componentCell projection
Cytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDeafness
Disease mutation
Non-syndromic deafness
   DomainANK repeat
Coiled coil
Repeat
   LigandActin-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processlocomotory behavior

Inferred from electronic annotation. Source: Ensembl

negative regulation of cytoskeleton organization

Inferred from electronic annotation. Source: Ensembl

parallel actin filament bundle assembly

Inferred from electronic annotation. Source: Ensembl

positive regulation of filopodium assembly

Inferred from electronic annotation. Source: Ensembl

sensory perception of sound

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentbrush border

Inferred from sequence or structural similarity PubMed 9763424. Source: UniProtKB

cytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

filamentous actin

Inferred from sequence or structural similarity PubMed 8799813. Source: UniProtKB

stereocilium

Inferred from electronic annotation. Source: UniProtKB-SubCell

stereocilium bundle tip

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionSH3 domain binding

Inferred from sequence or structural similarity PubMed 12598619. Source: UniProtKB

actin filament binding

Inferred from sequence or structural similarity PubMed 8799813. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: B1AK53-1)

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.
Isoform 2 (identifier: B1AK53-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-536: Missing.
     543-572: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 854854Espin
PRO_0000334666

Regions

Repeat1 – 3131ANK 1
Repeat35 – 6430ANK 2
Repeat69 – 9931ANK 3
Repeat103 – 13331ANK 4
Repeat137 – 16731ANK 5
Repeat171 – 20131ANK 6
Repeat205 – 23531ANK 7
Repeat239 – 26830ANK 8
Repeat271 – 30030ANK 9
Domain651 – 66818WH2
Coiled coil756 – 83075 Potential
Compositional bias428 – 730303Pro-rich
Compositional bias768 – 82558Glu-rich

Natural variations

Alternative sequence1 – 536536Missing in isoform 2.
VSP_033728
Alternative sequence543 – 57230Missing in isoform 2.
VSP_033729
Natural variant3221R → H.
Corresponds to variant rs3817911 [ dbSNP | Ensembl ].
VAR_043451
Natural variant3231Y → C.
Corresponds to variant rs3817910 [ dbSNP | Ensembl ].
VAR_043452
Natural variant7191S → R in DFNB36; irregular microvillar organization. Ref.7
VAR_043453
Natural variant7441D → N in DFNB36; irregular microvillar organization. Ref.7
VAR_043454
Natural variant7741R → Q in DFNB36; sporadic case with mild phenotype; unknown pathological significance. Ref.7
VAR_043455
Natural variant8481Missing in DFNB36; severe phenotype; severe impairment of microvillar elongation; espin is less efficiently targeted to the microvilli and accumulates in the nucleus. Ref.7
VAR_043456

Experimental info

Sequence conflict5931R → G in AAP34481. Ref.2
Sequence conflict5971P → L in CAB66814. Ref.1
Sequence conflict6781F → L in AAD24480. Ref.5
Sequence conflict773 – 7742RR → SW in AAD24480. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 8, 2008. Version 1.
Checksum: 34B771071F733B62

FASTA85491,733
        10         20         30         40         50         60 
MALEQALQAA RQGELDVLRS LHAAGLLGPS LRDPLDALPV HHAARAGKLH CLRFLVEEAA 

        70         80         90        100        110        120 
LPAAARARNG ATPAHDASAT GHLACLQWLL SQGGCRVQDK DNSGATVLHL AARFGHPEVV 

       130        140        150        160        170        180 
NWLLHHGGGD PTAATDMGAL PIHYAAAKGD FPSLRLLVEH YPEGVNAQTK NGATPLYLAC 

       190        200        210        220        230        240 
QEGHLEVTQY LVQECGADPH ARAHDGMTPL HAAAQMGHSP VIVWLVSCTD VSLSEQDKDG 

       250        260        270        280        290        300 
ATAMHFAASR GHTKVLSWLL LHGGEISADL WGGTPLHDAA ENGELECCQI LVVNGAELDV 

       310        320        330        340        350        360 
RDRDGYTAAD LSDFNGHSHC TRYLRTVENL SVEHRVLSRD PSAELEAKQP DSGMSSPNTT 

       370        380        390        400        410        420 
VSVQPLNFDL SSPTSTLSNY DSCSSSHSSI KGQHPPCGLS SARAADIQSY MDMLNPELGL 

       430        440        450        460        470        480 
PRGTIGKPTP PPPPPSFPPP PPPPGTQLPP PPPGYPAPKP PVGPQAADIY MQTKNKLRHV 

       490        500        510        520        530        540 
ETEALKKELS SCDGHDGLRR QDSSRKPRAF SKQPSTGDYY RQLGRCPGET LAARPGMAHS 

       550        560        570        580        590        600 
EEVRARQPAR AGCPRLGPAA RGSLEGPSAP PQAALLPGNH VPNGCAADPK ASRELPPPPP 

       610        620        630        640        650        660 
PPPPPLPEAA SSPPPAPPLP LESAGPGCGQ RRSSSSTGST KSFNMMSPTG DNSELLAEIK 

       670        680        690        700        710        720 
AGKSLKPTPQ SKGLTTVFSG IGQPAFQPDS PLPSVSPALS PVRSPTPPAA GFQPLLNGSL 

       730        740        750        760        770        780 
VPVPPTTPAP GVQLDVEALI PTHDEQGRPI PEWKRQVMVR KMQLKMQEEE EQRRKEEEEE 

       790        800        810        820        830        840 
ARLASMPAWR RDLLRKKLEE EREQKRKEEE RQKQEELRRE KEQSEKLRTL GYDESKLAPW 

       850 
QRQVILKKGD IAKY 

« Hide

Isoform 2 [UniParc].

Checksum: 35E402CA6E9C0AB3
Show »

FASTA28831,636

References

« Hide 'large scale' references
[1]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]"Large-scale cDNA transfection screening for genes related to cancer development and progression."
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Organization and chromosomal location of the espin gene in the human."
Bartles J.R., Zheng L., Li A., Wang M.
Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 663-854.
Tissue: Testis.
[6]"Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction."
Naz S., Griffith A.J., Riazuddin S., Hampton L.L., Battey J.F. Jr., Khan S.N., Riazuddin S., Wilcox E.R., Friedman T.B.
J. Med. Genet. 41:591-595(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN DFNB36.
[7]"Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation."
Donaudy F., Zheng L., Ficarella R., Ballana E., Carella M., Melchionda S., Estivill X., Bartles J.R., Gasparini P.
J. Med. Genet. 43:157-161(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB36 ARG-719; ASN-744; GLN-774 AND LYS-848 DEL, CHARACTERIZATION OF VARIANTS DFNB36 ARG-719; ASN-744 AND LYS-848 DEL.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_113663.2. NM_031475.2.
UniGeneHs.744222.

3D structure databases

ProteinModelPortalB1AK53.
SMRB1AK53. Positions 4-318.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000367059.

PTM databases

PhosphoSiteB1AK53.

Proteomic databases

PaxDbB1AK53.
PRIDEB1AK53.

Protocols and materials databases

DNASU83715.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000377828; ENSP00000367059; ENSG00000187017. [B1AK53-1]
ENST00000416731; ENSP00000399239; ENSG00000187017. [B1AK53-2]
ENST00000461727; ENSP00000465308; ENSG00000187017. [B1AK53-2]
GeneID83715.
KEGGhsa:83715.
UCSCuc001amy.3. human. [B1AK53-1]
uc001amz.3. human. [B1AK53-2]

Organism-specific databases

CTD83715.
GeneCardsGC01P006484.
H-InvDBHIX0000079.
HIX0028654.
HGNCHGNC:13281. ESPN.
HPAHPA028674.
MIM606351. gene.
609006. phenotype.
neXtProtNX_B1AK53.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA27885.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0666.
HOGENOMHOG000049230.
HOVERGENHBG100662.
InParanoidB1AK53.
OMAAKQPDSG.
OrthoDBEOG7353WF.
PhylomeDBB1AK53.
TreeFamTF326392.

Gene expression databases

ArrayExpressB1AK53.
BgeeB1AK53.
CleanExHS_ESPN.
GenevestigatorB1AK53.

Family and domain databases

Gene3D1.25.40.20. 1 hit.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR003124. WH2_dom.
[Graphical view]
PfamPF00023. Ank. 1 hit.
PF12796. Ank_2. 3 hits.
PF02205. WH2. 1 hit.
[Graphical view]
SMARTSM00248. ANK. 8 hits.
SM00246. WH2. 1 hit.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 6 hits.
PS51082. WH2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSESPN. human.
GeneWikiEspin_(protein).
GenomeRNAi83715.
NextBio72707.
PROB1AK53.
SOURCESearch...

Entry information

Entry nameESPN_HUMAN
AccessionPrimary (citable) accession number: B1AK53
Secondary accession number(s): Q6XYB2, Q9H0A2, Q9Y329
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: April 8, 2008
Last modified: April 16, 2014
This is version 64 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM