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ESPN espin [ Homo sapiens (human) ]

Gene ID: 83715, updated on 7-Sep-2023

Summary

Official Symbol
ESPNprovided by HGNC
Official Full Name
espinprovided by HGNC
Primary source
HGNC:HGNC:13281
See related
Ensembl:ENSG00000187017 MIM:606351; AllianceGenome:HGNC:13281
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
USH1M; 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
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Genomic context

See ESPN in Genome Data Viewer
Location:
1p36.31
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (6424776..6461370)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (5950417..5987012)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6484836..6521004)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6329739-6330330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6330331-6330921 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6335064-6335654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6339577-6340442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6340686-6341235 Neighboring gene acyl-CoA thioesterase 7 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:6361272-6362471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6396158-6396892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6397980-6398642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6398643-6399303 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6399966-6400626 Neighboring gene Sharpr-MPRA regulatory region 5603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6417160-6418127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6424607-6425106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6427779-6428559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6434479-6434978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6445825-6446810 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:6453176-6453687 and GRCh37_chr1:6453688-6454200 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:6453176-6453687 and GRCh37_chr1:6453688-6454200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:6454201-6454711 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6455464-6455988 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:6474153-6474654 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:6474655-6475154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6483551-6484165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6484166-6484779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6499737-6500250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6501479-6501980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6501981-6502480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6503341-6503883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6506945-6507603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6507628-6508502 Neighboring gene hes family bHLH transcription factor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6509377-6510250 Neighboring gene microRNA 4252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6512972-6513929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6526054-6527002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6534424-6534945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6534946-6535466 Neighboring gene TNF receptor superfamily member 25 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:6536823-6538022 Neighboring gene pleckstrin homology and RhoGEF domain containing G5 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:6555381-6556136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6562565-6563294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6566857-6567357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6571620-6572434 Neighboring gene Sharpr-MPRA regulatory region 8211 Neighboring gene Sharpr-MPRA regulatory region 5048 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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp434A196, DKFZp434G2126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH3 domain binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
involved_in actin filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in microvillar actin bundle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in brush border ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of filamentous actin ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in microvillus IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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), LRG_1281

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, Q6XYB2, Q9H0A2, Q9Y329
    Related
    ENSP00000496593.1, ENST00000645284.1
    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: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: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    6424776..6461370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002433.2XP_016857922.1  espin isoform X5

  2. 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]
  3. 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]
  4. XM_011542238.4XP_011540540.1  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]
  5. XM_011542237.1XP_011540539.1  espin isoform X8

    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]
  6. XM_011542233.3XP_011540535.2  espin isoform X3

  7. XM_047431542.1XP_047287498.1  espin isoform X4

  8. XM_047431549.1XP_047287505.1  espin isoform X6

  9. XM_047431551.1XP_047287507.1  espin isoform X6

  10. XM_011542236.3XP_011540538.1  espin isoform X7

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    5950417..5987012
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338987.1XP_054194962.1  espin isoform X5

  2. XM_054338982.1XP_054194957.1  espin isoform X1

  3. XM_054338983.1XP_054194958.1  espin isoform X2

  4. XM_054338993.1XP_054194968.1  espin isoform X9

  5. XM_054338992.1XP_054194967.1  espin isoform X8

  6. XM_054338984.1XP_054194959.1  espin isoform X3

  7. XM_054338986.1XP_054194961.1  espin isoform X4

  8. XM_054338985.1XP_054194960.1  espin isoform X4

  9. XM_054338988.1XP_054194963.1  espin isoform X6

  10. XM_054338990.1XP_054194965.1  espin isoform X6

  11. XM_054338989.1XP_054194964.1  espin isoform X6

  12. XM_054338991.1XP_054194966.1  espin isoform X7