U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    ESPN espin [ Homo sapiens (human) ]

    Gene ID: 83715, updated on 5-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ESPN in Genome Data Viewer
    Location:
    1p36.31
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (6424776..6461370)
    RS_2023_10 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 ReSE screen-validated silencer GRCh37_chr1:6333683-6333849 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 ATAC-STARR-seq lymphoblastoid active region 76 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 ATAC-STARR-seq lymphoblastoid active region 78 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 79 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 77 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 80 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 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 ATAC-STARR-seq lymphoblastoid silent region 153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 82 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6499737-6500250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 155 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 ATAC-STARR-seq lymphoblastoid silent region 156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6506945-6507603 Neighboring gene hes family bHLH transcription factor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6507628-6508502 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 ReSE screen-validated silencer GRCh37_chr1:6518900-6519106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 157 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 MED14-independent group 3 enhancer GRCh37_chr1:6536823-6538022 Neighboring gene TNF receptor superfamily member 25 Neighboring gene pleckstrin homology and RhoGEF domain containing G5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 160 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:6555381-6556136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 161 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 MPRA-validated peak31 silencer 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
     
    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
     
    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
     
    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)

    NEW Try the new Transcript table

    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_10

    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