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B1AK53

- ESPN_HUMAN

UniProt

B1AK53 - ESPN_HUMAN

Protein

Espin

Gene

ESPN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 68 (01 Oct 2014)
      Sequence version 1 (08 Apr 2008)
      Previous versions | rss
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    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

    1. actin filament binding Source: UniProtKB
    2. SH3 domain binding Source: UniProtKB

    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

    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

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 854854EspinPRO_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. Binds F-actin in a Ca2+-resistant fashion. Interacts (via N-terminal) with BAIAP2 (via SH3-domain). Interacts with PFN2.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000367059.

    Structurei

    3D structure databases

    ProteinModelPortaliB1AK53.
    SMRiB1AK53. Positions 4-336.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati1 – 3131ANK 1Add
    BLAST
    Repeati35 – 6430ANK 2Add
    BLAST
    Repeati69 – 9931ANK 3Add
    BLAST
    Repeati103 – 13331ANK 4Add
    BLAST
    Repeati137 – 16731ANK 5Add
    BLAST
    Repeati171 – 20131ANK 6Add
    BLAST
    Repeati205 – 23531ANK 7Add
    BLAST
    Repeati239 – 26830ANK 8Add
    BLAST
    Repeati271 – 30030ANK 9Add
    BLAST
    Domaini651 – 66818WH2PROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili756 – 83075Sequence AnalysisAdd
    BLAST

    Compositional bias

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

    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

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti593 – 5931R → G in AAP34481. (PubMed:15498874)Curated
    Sequence conflicti597 – 5971P → L in CAB66814. (PubMed:11230166)Curated
    Sequence conflicti678 – 6781F → L in AAD24480. 1 PublicationCurated
    Sequence conflicti773 – 7742RR → SW in AAD24480. 1 PublicationCurated

    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. 1 PublicationVSP_033728Add
    BLAST
    Alternative sequencei543 – 57230Missing in isoform 2. 1 PublicationVSP_033729Add
    BLAST

    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...
    MobiDBi 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

    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: October 1, 2014
    This is version 68 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