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B1AK53

- ESPN_HUMAN

UniProt

B1AK53 - ESPN_HUMAN

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Protein
Espin
Gene
ESPN, DFNB36, LP2654
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. SH3 domain binding Source: UniProtKB
  2. actin filament binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. locomotory behavior Source: Ensembl
  2. negative regulation of cytoskeleton organization Source: Ensembl
  3. parallel actin filament bundle assembly Source: Ensembl
  4. positive regulation of filopodium assembly Source: Ensembl
  5. sensory perception of sound Source: UniProtKB-KW
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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:13281. ESPN.

Subcellular locationi

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

GO - Cellular componenti

  1. brush border Source: UniProtKB
  2. cytoplasm Source: UniProtKB-KW
  3. filamentous actin Source: UniProtKB
  4. stereocilium Source: UniProtKB-SubCell
  5. stereocilium bundle 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) [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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti719 – 7191S → R in DFNB36; irregular microvillar organization. 1 Publication
VAR_043453
Natural varianti744 – 7441D → N in DFNB36; irregular microvillar organization. 1 Publication
VAR_043454
Natural varianti774 – 7741R → Q in DFNB36; sporadic case with mild phenotype; unknown pathological significance. 1 Publication
VAR_043455
Natural varianti848 – 8481Missing in DFNB36; severe phenotype; severe impairment of microvillar elongation; espin is less efficiently targeted to the microvilli and accumulates in the nucleus. 1 Publication
VAR_043456

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

MIMi609006. phenotype.
Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBiPA27885.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 854854Espin
PRO_0000334666Add
BLAST

Proteomic databases

MaxQBiB1AK53.
PaxDbiB1AK53.
PRIDEiB1AK53.

PTM databases

PhosphoSiteiB1AK53.

Expressioni

Gene expression databases

ArrayExpressiB1AK53.
BgeeiB1AK53.
CleanExiHS_ESPN.
GenevestigatoriB1AK53.

Organism-specific databases

HPAiHPA028674.

Interactioni

Subunit structurei

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.

Protein-protein interaction databases

STRINGi9606.ENSP00000367059.

Structurei

3D structure databases

ProteinModelPortaliB1AK53.
SMRiB1AK53. Positions 4-336.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati1 – 3131ANK 1
Add
BLAST
Repeati35 – 6430ANK 2
Add
BLAST
Repeati69 – 9931ANK 3
Add
BLAST
Repeati103 – 13331ANK 4
Add
BLAST
Repeati137 – 16731ANK 5
Add
BLAST
Repeati171 – 20131ANK 6
Add
BLAST
Repeati205 – 23531ANK 7
Add
BLAST
Repeati239 – 26830ANK 8
Add
BLAST
Repeati271 – 30030ANK 9
Add
BLAST
Domaini651 – 66818WH2
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili756 – 83075 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi428 – 730303Pro-rich
Add
BLAST
Compositional biasi768 – 82558Glu-rich
Add
BLAST

Domaini

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

Sequence similaritiesi

Contains 9 ANK repeats.
Contains 1 WH2 domain.

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiCOG0666.
HOGENOMiHOG000049230.
HOVERGENiHBG100662.
InParanoidiB1AK53.
OMAiHNGCAAD.
OrthoDBiEOG7353WF.
PhylomeDBiB1AK53.
TreeFamiTF326392.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR003124. WH2_dom.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. 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. Align

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

MALEQALQAA RQGELDVLRS LHAAGLLGPS LRDPLDALPV HHAARAGKLH    50
CLRFLVEEAA LPAAARARNG ATPAHDASAT GHLACLQWLL SQGGCRVQDK 100
DNSGATVLHL AARFGHPEVV NWLLHHGGGD PTAATDMGAL PIHYAAAKGD 150
FPSLRLLVEH YPEGVNAQTK NGATPLYLAC QEGHLEVTQY LVQECGADPH 200
ARAHDGMTPL HAAAQMGHSP VIVWLVSCTD VSLSEQDKDG ATAMHFAASR 250
GHTKVLSWLL LHGGEISADL WGGTPLHDAA ENGELECCQI LVVNGAELDV 300
RDRDGYTAAD LSDFNGHSHC TRYLRTVENL SVEHRVLSRD PSAELEAKQP 350
DSGMSSPNTT VSVQPLNFDL SSPTSTLSNY DSCSSSHSSI KGQHPPCGLS 400
SARAADIQSY MDMLNPELGL PRGTIGKPTP PPPPPSFPPP PPPPGTQLPP 450
PPPGYPAPKP PVGPQAADIY MQTKNKLRHV ETEALKKELS SCDGHDGLRR 500
QDSSRKPRAF SKQPSTGDYY RQLGRCPGET LAARPGMAHS EEVRARQPAR 550
AGCPRLGPAA RGSLEGPSAP PQAALLPGNH VPNGCAADPK ASRELPPPPP 600
PPPPPLPEAA SSPPPAPPLP LESAGPGCGQ RRSSSSTGST KSFNMMSPTG 650
DNSELLAEIK AGKSLKPTPQ SKGLTTVFSG IGQPAFQPDS PLPSVSPALS 700
PVRSPTPPAA GFQPLLNGSL VPVPPTTPAP GVQLDVEALI PTHDEQGRPI 750
PEWKRQVMVR KMQLKMQEEE EQRRKEEEEE ARLASMPAWR RDLLRKKLEE 800
EREQKRKEEE RQKQEELRRE KEQSEKLRTL GYDESKLAPW QRQVILKKGD 850
IAKY 854
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti322 – 3221R → H.
Corresponds to variant rs3817911 [ dbSNP | Ensembl ].
VAR_043451
Natural varianti323 – 3231Y → C.
Corresponds to variant rs3817910 [ dbSNP | Ensembl ].
VAR_043452
Natural varianti719 – 7191S → R in DFNB36; irregular microvillar organization. 1 Publication
VAR_043453
Natural varianti744 – 7441D → N in DFNB36; irregular microvillar organization. 1 Publication
VAR_043454
Natural varianti774 – 7741R → Q in DFNB36; sporadic case with mild phenotype; unknown pathological significance. 1 Publication
VAR_043455
Natural varianti848 – 8481Missing in DFNB36; severe phenotype; severe impairment of microvillar elongation; espin is less efficiently targeted to the microvilli and accumulates in the nucleus. 1 Publication
VAR_043456

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 536536Missing in isoform 2.
VSP_033728Add
BLAST
Alternative sequencei543 – 57230Missing in isoform 2.
VSP_033729Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti593 – 5931R → G in AAP34481. 1 Publication
Sequence conflicti597 – 5971P → L in CAB66814. 1 Publication
Sequence conflicti678 – 6781F → L in AAD24480. 1 Publication
Sequence conflicti773 – 7742RR → SW in AAD24480. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
ENST00000416731; ENSP00000399239; ENSG00000187017. [B1AK53-2]
ENST00000461727; ENSP00000465308; ENSG00000187017. [B1AK53-2]
GeneIDi83715.
KEGGihsa:83715.
UCSCiuc001amy.3. human. [B1AK53-1]
uc001amz.3. human. [B1AK53-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS70.1. [B1AK53-1 ]
RefSeqi NP_113663.2. NM_031475.2. [B1AK53-1 ]
UniGenei Hs.744222.

3D structure databases

ProteinModelPortali B1AK53.
SMRi B1AK53. Positions 4-336.
ModBasei Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000367059.

PTM databases

PhosphoSitei B1AK53.

Proteomic databases

MaxQBi B1AK53.
PaxDbi B1AK53.
PRIDEi B1AK53.

Protocols and materials databases

DNASUi 83715.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000377828 ; ENSP00000367059 ; ENSG00000187017 . [B1AK53-1 ]
ENST00000416731 ; ENSP00000399239 ; ENSG00000187017 . [B1AK53-2 ]
ENST00000461727 ; ENSP00000465308 ; ENSG00000187017 . [B1AK53-2 ]
GeneIDi 83715.
KEGGi hsa:83715.
UCSCi uc001amy.3. human. [B1AK53-1 ]
uc001amz.3. human. [B1AK53-2 ]

Organism-specific databases

CTDi 83715.
GeneCardsi GC01P006484.
GeneReviewsi ESPN.
H-InvDB HIX0000079.
HIX0028654.
HGNCi HGNC:13281. ESPN.
HPAi HPA028674.
MIMi 606351. gene.
609006. phenotype.
neXtProti NX_B1AK53.
Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBi PA27885.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0666.
HOGENOMi HOG000049230.
HOVERGENi HBG100662.
InParanoidi B1AK53.
OMAi HNGCAAD.
OrthoDBi EOG7353WF.
PhylomeDBi B1AK53.
TreeFami TF326392.

Miscellaneous databases

ChiTaRSi ESPN. human.
GeneWikii Espin_(protein).
GenomeRNAii 83715.
NextBioi 72707.
PROi B1AK53.
SOURCEi Search...

Gene expression databases

ArrayExpressi B1AK53.
Bgeei B1AK53.
CleanExi HS_ESPN.
Genevestigatori B1AK53.

Family and domain databases

Gene3Di 1.25.40.20. 1 hit.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR003124. WH2_dom.
[Graphical view ]
Pfami PF00023. Ank. 1 hit.
PF12796. Ank_2. 3 hits.
PF02205. WH2. 1 hit.
[Graphical view ]
SMARTi SM00248. ANK. 8 hits.
SM00246. WH2. 1 hit.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 6 hits.
PS51082. WH2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.
    , 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. 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.

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: July 9, 2014
This is version 67 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

External Data

Dasty 3

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