Seroatlas · Human Serome Atlas

ESPN

Espin

Also known as: DFNB36, ESPN_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: B1AK53
Gene: ESPN
Ensembl: ENSG00000187017
Chromosome: 1
Canonical length: 854 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Vesicles

OverviewNCBI Gene

This gene encodes a multifunctional actin-bundling protein. It 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. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

854 residues, UniProt reviewed canonical sequence.

>B1AK53|ESPN
     1  MALEQALQAA RQGELDVLRS LHAAGLLGPS LRDPLDALPV HHAARAGKLH CLRFLVEEAA
    61  LPAAARARNG ATPAHDASAT GHLACLQWLL SQGGCRVQDK DNSGATVLHL AARFGHPEVV
   121  NWLLHHGGGD PTAATDMGAL PIHYAAAKGD FPSLRLLVEH YPEGVNAQTK NGATPLYLAC
   181  QEGHLEVTQY LVQECGADPH ARAHDGMTPL HAAAQMGHSP VIVWLVSCTD VSLSEQDKDG
   241  ATAMHFAASR GHTKVLSWLL LHGGEISADL WGGTPLHDAA ENGELECCQI LVVNGAELDV
   301  RDRDGYTAAD LSDFNGHSHC TRYLRTVENL SVEHRVLSRD PSAELEAKQP DSGMSSPNTT
   361  VSVQPLNFDL SSPTSTLSNY DSCSSSHSSI KGQHPPCGLS SARAADIQSY MDMLNPELGL
   421  PRGTIGKPTP PPPPPSFPPP PPPPGTQLPP PPPGYPAPKP PVGPQAADIY MQTKNKLRHV
   481  ETEALKKELS SCDGHDGLRR QDSSRKPRAF SKQPSTGDYY RQLGRCPGET LAARPGMAHS
   541  EEVRARQPAR AGCPRLGPAA RGSLEGPSAP PQAALLPGNH VPNGCAADPK ASRELPPPPP
   601  PPPPPLPEAA SSPPPAPPLP LESAGPGCGQ RRSSSSTGST KSFNMMSPTG DNSELLAEIK
   661  AGKSLKPTPQ SKGLTTVFSG IGQPAFQPDS PLPSVSPALS PVRSPTPPAA GFQPLLNGSL
   721  VPVPPTTPAP GVQLDVEALI PTHDEQGRPI PEWKRQVMVR KMQLKMQEEE EQRRKEEEEE
   781  ARLASMPAWR RDLLRKKLEE EREQKRKEEE RQKQEELRRE KEQSEKLRTL GYDESKLAPW
   841  QRQVILKKGD IAKY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ESPN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.47
Highest tissue expression: 170 nTPM

Expression across tissuesHPA

Tissue

liver: 170 nTPM
testis: 159 nTPM
retina: 110 nTPM
skin: 87 nTPM
duodenum: 86 nTPM
small intestine: 85 nTPM

Single-cell type

late spermatids: 850 nCPM
enterocytes: 492 nCPM
müller glia: 290 nCPM
rod photoreceptor cells: 183 nCPM
early spermatids: 178 nCPM
colonocytes: 166 nCPM

Immune cell

MAIT T-cell: 0.8 nTPM
memory CD4 T-cell: 0.3 nTPM
gdT-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM
T-reg: 0.1 nTPM
total PBMC: 0.1 nTPM

Brain region

cerebellum: 30 nTPM
thalamus: 13 nTPM
hypothalamus: 5.4 nTPM
pons: 3.4 nTPM
basal ganglia: 2.9 nTPM
midbrain: 2.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ESPN.

Disease | AllUniProt

Conditions ESPN is implicated in, by any mechanism.

Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) MIM:609006
Usher syndrome 1M (USH1M) MIM:618632

Disease | GeneticClinVar

28 pathogenic / likely-pathogenic of 598 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive nonsyndromic hearing loss 36
Autosomal dominant nonsyndromic hearing loss 91
Usher syndrome, type 1M
Rare genetic deafness
Usher syndrome type 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.93
gnomAD pLI: 0
gnomAD missense Z: -0.08
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ESPN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ESPN as an antibody target. Whether an autoantibody or antibody against ESPN could matter depends on whether native ESPN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ESPN is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ESPN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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