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ESPN espin [ Homo sapiens (human) ]

Gene ID: 83715, updated on 13-Feb-2019

Summary

Official Symbol
ESPNprovided by HGNC
Official Full Name
espinprovided by HGNC
Primary source
HGNC:HGNC:13281
See related
Ensembl:ENSG00000187017 MIM:606351
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB36; LP2654
Summary
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]
Expression
Biased expression in testis (RPKM 9.0), skin (RPKM 5.5) and 8 other tissues See more
Orthologs

Genomic context

See ESPN in Genome Data Viewer
Location:
1p36.31
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (6424776..6461367)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6484836..6521004)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA thioesterase 7 Neighboring gene hes family bHLH transcription factor 2 Neighboring gene microRNA 4252 Neighboring gene TNF receptor superfamily member 25 Neighboring gene pleckstrin homology and RhoGEF domain containing G5 Neighboring gene RNA, U6 small nuclear 731, pseudogene Neighboring gene nucleolar protein 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434A196, DKFZp434G2126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
actin filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
parallel actin filament bundle assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of filopodium assembly IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
brush border ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with filamentous actin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
filamentous actin ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
microvillus IEA
Inferred from Electronic Annotation
more info
 
stereocilium tip ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
espin
Names
autosomal recessive deafness type 36 protein
ectoplasmic specialization protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015866.1 RefSeqGene

    Range
    4989..41157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001367473.1NP_001354402.1  espin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL031848, AL158217
  2. NM_001367474.1NP_001354403.1  espin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL031848, AL158217
  3. NM_031475.3NP_113663.2  espin isoform 1

    See identical proteins and their annotated locations for NP_113663.2

    Status: REVIEWED

    Source sequence(s)
    AL031848, AL136880, AL158217, BM713713, HY016927
    Consensus CDS
    CCDS70.1
    UniProtKB/Swiss-Prot
    B1AK53
    Related
    ENSP00000367059.1, ENST00000377828.5
    Conserved Domains (5) summary
    cd00204
    Location:166292
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam02205
    Location:648673
    WH2; WH2 motif
    pfam12796
    Location:210302
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:72124
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:137169
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    6424776..6461367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002433.1XP_016857922.1  espin isoform X6

  2. XM_005263501.2XP_005263558.1  espin isoform X4

    Conserved Domains (5) summary
    cd00204
    Location:166292
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam02205
    Location:627652
    WH2; WH2 motif
    pfam12796
    Location:210302
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:72124
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:137169
    ANK; ANK repeat [structural motif]
  3. XM_024450116.1XP_024305884.1  espin isoform X5

    Conserved Domains (4) summary
    cd00204
    Location:166292
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:137169
    ANK; ANK repeat [structural motif]
    pfam02205
    Location:618643
    WH2; WH2 motif
    pfam13637
    Location:272324
    Ank_4; Ankyrin repeats (many copies)
  4. XM_011542231.1XP_011540533.1  espin isoform X1

    Conserved Domains (5) summary
    cd00204
    Location:166292
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam02205
    Location:627652
    WH2; WH2 motif
    pfam12796
    Location:210302
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:72124
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:137169
    ANK; ANK repeat [structural motif]
  5. XM_011542232.1XP_011540534.1  espin isoform X2

    Related
    ENSP00000490186.1, ENST00000636330.1
    Conserved Domains (5) summary
    cd00204
    Location:166292
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam02205
    Location:618643
    WH2; WH2 motif
    pfam12796
    Location:210302
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:72124
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:137169
    ANK; ANK repeat [structural motif]
  6. XM_017002434.1XP_016857923.1  espin isoform X8

  7. XM_011542238.3XP_011540540.1  espin isoform X10

    Conserved Domains (4) summary
    cd00204
    Location:166292
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:210302
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:72124
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:137169
    ANK; ANK repeat [structural motif]
  8. XM_011542237.1XP_011540539.1  espin isoform X9

    Conserved Domains (4) summary
    cd00204
    Location:166292
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:210302
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:72124
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:137169
    ANK; ANK repeat [structural motif]
  9. XM_011542233.2XP_011540535.1  espin isoform X3

    Conserved Domains (5) summary
    cd00204
    Location:34160
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam02205
    Location:495520
    WH2; WH2 motif
    pfam12796
    Location:78170
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:4294
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:3971
    ANK; ANK repeat [structural motif]
  10. XM_011542236.2XP_011540538.1  espin isoform X7

    Conserved Domains (1) summary
    pfam02205
    Location:2348
    WH2; WH2 motif

RNA

  1. XR_946774.1 RNA Sequence

  2. XR_946775.1 RNA Sequence

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