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Protein

Espin

Gene

ESPN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells. Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia. Involved in the elongation of actin in stereocilia. In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding
Biological processHearing

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Espin
Alternative name(s):
Autosomal recessive deafness type 36 protein
Ectoplasmic specialization protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ESPN
Synonyms:DFNB36
ORF Names:LP2654
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000187017.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13281 ESPN

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606351 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_B1AK53

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36)3 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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_043453719S → R in DFNB36; irregular microvillar organization. 1 PublicationCorresponds to variant dbSNP:rs121908134EnsemblClinVar.1
Natural variantiVAR_043454744D → N in DFNB36; irregular microvillar organization. 1 PublicationCorresponds to variant dbSNP:rs121908135EnsemblClinVar.1
Natural variantiVAR_043455774R → Q in DFNB36; sporadic case with mild phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121908136EnsemblClinVar.1
Natural variantiVAR_079505840 – 854Missing in DFNB36. 1 PublicationAdd BLAST15
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

DisGeNET

More...
DisGeNETi
83715

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ESPN

MalaCards human disease database

More...
MalaCardsi
ESPN
MIMi609006 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000187017

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27885

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ESPN

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003346661 – 854EspinAdd BLAST854

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei338PhosphoserineBy similarity1
Modified residuei342PhosphoserineBy similarity1
Modified residuei515PhosphoserineBy similarity1
Modified residuei647PhosphoserineBy similarity1
Modified residuei690PhosphoserineBy similarity1
Modified residuei696PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
B1AK53

MaxQB - The MaxQuant DataBase

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MaxQBi
B1AK53

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
B1AK53

PRoteomics IDEntifications database

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PRIDEi
B1AK53

ProteomicsDB human proteome resource

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ProteomicsDBi
3019
3020 [B1AK53-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
B1AK53

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
B1AK53

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000187017 Expressed in 117 organ(s), highest expression level in right testis

CleanEx database of gene expression profiles

More...
CleanExi
HS_ESPN

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
B1AK53 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
B1AK53 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA028674
HPA060220

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer. Binds F-actin in a Ca2+-resistant fashion. Interacts (via N-terminus) with BAIAP2 (via SH3-domain). Interacts with PFN2. Interacts with MYO3A (via C-terminus). Interacts with MYO3B (via C-terminus).By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
123738, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000367059

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
B1AK53

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
B1AK53

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini651 – 668WH2PROSITE-ProRule annotationAdd BLAST18

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili756 – 830Sequence analysisAdd BLAST75

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi428 – 730Pro-richAdd BLAST303
Compositional biasi768 – 825Glu-richAdd BLAST58

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0504 Eukaryota
COG0666 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160408

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000049230

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG100662

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
B1AK53

Database of Orthologous Groups

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OrthoDBi
EOG091G056N

Database for complete collections of gene phylogenies

More...
PhylomeDBi
B1AK53

TreeFam database of animal gene trees

More...
TreeFami
TF326392

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00204 ANK, 3 hits

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.20, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR030233 Espn
IPR003124 WH2_dom

The PANTHER Classification System

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PANTHERi
PTHR24153:SF14 PTHR24153:SF14, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF12796 Ank_2, 3 hits
PF02205 WH2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00248 ANK, 8 hits
SM00246 WH2, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 6 hits
PS51082 WH2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GUN9A0A1B0GUN9_HUMAN
Espin
ESPN
1,362Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JYL1Q5JYL1_HUMAN
Espin
ESPN
213Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MSQ4A0A0A0MSQ4_HUMAN
Espin
ESPN
288Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YY76A0A0J9YY76_HUMAN
Espin
ESPN
179Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y7L4H0Y7L4_HUMAN
Espin
ESPN
188Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YWQ8A0A0J9YWQ8_HUMAN
Espin
ESPN
237Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUS9A0A1B0GUS9_HUMAN
Espin
ESPN
176Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YG57A0A2R8YG57_HUMAN
Espin
ESPN
206Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7L7A0A2R8Y7L7_HUMAN
Espin
ESPN
82Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EMB7K7EMB7_HUMAN
Espin
ESPN
28Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs3817911Ensembl.1
Natural variantiVAR_043452323Y → C. Corresponds to variant dbSNP:rs3817910Ensembl.1
Natural variantiVAR_043453719S → R in DFNB36; irregular microvillar organization. 1 PublicationCorresponds to variant dbSNP:rs121908134EnsemblClinVar.1
Natural variantiVAR_043454744D → N in DFNB36; irregular microvillar organization. 1 PublicationCorresponds to variant dbSNP:rs121908135EnsemblClinVar.1
Natural variantiVAR_043455774R → Q in DFNB36; sporadic case with mild phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121908136EnsemblClinVar.1
Natural variantiVAR_079505840 – 854Missing in DFNB36. 1 PublicationAdd BLAST15
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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AL136880 mRNA Translation: CAB66814.1
AY203958 mRNA Translation: AAP34481.1
AL031848 Genomic DNA No translation available.
AL158217 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71537.1
AF134401 mRNA Translation: AAD24480.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS70.1 [B1AK53-1]

NCBI Reference Sequences

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RefSeqi
NP_113663.2, NM_031475.2 [B1AK53-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.744222

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000377828; ENSP00000367059; ENSG00000187017 [B1AK53-1]
ENST00000461727; ENSP00000465308; ENSG00000187017 [B1AK53-2]
ENST00000645284; ENSP00000496593; ENSG00000187017 [B1AK53-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
83715

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:83715

UCSC genome browser

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UCSCi
uc001amy.3 human [B1AK53-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136880 mRNA Translation: CAB66814.1
AY203958 mRNA Translation: AAP34481.1
AL031848 Genomic DNA No translation available.
AL158217 Genomic DNA No translation available.
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

BioGridi123738, 1 interactor
STRINGi9606.ENSP00000367059

PTM databases

iPTMnetiB1AK53
PhosphoSitePlusiB1AK53

Polymorphism and mutation databases

BioMutaiESPN

Proteomic databases

EPDiB1AK53
MaxQBiB1AK53
PaxDbiB1AK53
PRIDEiB1AK53
ProteomicsDBi3019
3020 [B1AK53-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
83715
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377828; ENSP00000367059; ENSG00000187017 [B1AK53-1]
ENST00000461727; ENSP00000465308; ENSG00000187017 [B1AK53-2]
ENST00000645284; ENSP00000496593; ENSG00000187017 [B1AK53-1]
GeneIDi83715
KEGGihsa:83715
UCSCiuc001amy.3 human [B1AK53-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
83715
DisGeNETi83715
EuPathDBiHostDB:ENSG00000187017.14

GeneCards: human genes, protein and diseases

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GeneCardsi
ESPN
GeneReviewsiESPN

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0000079
HIX0028654
HGNCiHGNC:13281 ESPN
HPAiHPA028674
HPA060220
MalaCardsiESPN
MIMi606351 gene
609006 phenotype
neXtProtiNX_B1AK53
OpenTargetsiENSG00000187017
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA27885

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00940000160408
HOGENOMiHOG000049230
HOVERGENiHBG100662
InParanoidiB1AK53
OrthoDBiEOG091G056N
PhylomeDBiB1AK53
TreeFamiTF326392

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ESPN human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Espin_(protein)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
83715

Protein Ontology

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PROi
PR:B1AK53

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000187017 Expressed in 117 organ(s), highest expression level in right testis
CleanExiHS_ESPN
ExpressionAtlasiB1AK53 baseline and differential
GenevisibleiB1AK53 HS

Family and domain databases

CDDicd00204 ANK, 3 hits
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR030233 Espn
IPR003124 WH2_dom
PANTHERiPTHR24153:SF14 PTHR24153:SF14, 1 hit
PfamiView protein in Pfam
PF12796 Ank_2, 3 hits
PF02205 WH2, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 8 hits
SM00246 WH2, 1 hit
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 6 hits
PS51082 WH2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiESPN_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: B1AK53
Secondary accession number(s): Q6XYB2, Q9H0A2, Q9Y329
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: April 8, 2008
Last modified: December 5, 2018
This is version 101 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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