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Espn espin [ Mus musculus (house mouse) ]

Gene ID: 56226, updated on 13-Dec-2022

Summary

Official Symbol
Espnprovided by MGI
Official Full Name
espinprovided by MGI
Primary source
MGI:MGI:1861630
See related
Ensembl:ENSMUSG00000028943 AllianceGenome:MGI:1861630
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
je
Summary
Predicted to enable SH3 domain binding activity and actin filament binding activity. Involved in negative regulation of cytoskeleton organization. Acts upstream of or within locomotory behavior; parallel actin filament bundle assembly; and positive regulation of filopodium assembly. Located in actin cytoskeleton; brush border; and stereocilium. Is active in stereocilium tip. Is expressed in organ of Corti; seminiferous tubule; and seminiferous tubule epithelium. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 36. Orthologous to human ESPN (espin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in duodenum adult (RPKM 67.5), small intestine adult (RPKM 49.0) and 9 other tissues See more
Orthologs
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Genomic context

See Espn in Genome Data Viewer
Location:
4 E2; 4 82.9 cM
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (152204788..152236871, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (152120331..152152414, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing, family G (with RhoGef domain) member 5 Neighboring gene tumor necrosis factor receptor superfamily, member 25 Neighboring gene espin-like pseudogene Neighboring gene predicted gene 13077 Neighboring gene hes family bHLH transcription factor 2

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (2)  1 citation
  • Targeted (1) 
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables SH3 domain binding ISO
Inferred from Sequence Orthology
more info
 
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables actin filament binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
located_in brush border IDA
Inferred from Direct Assay
more info
PubMed 
located_in brush border ISO
Inferred from Sequence Orthology
more info
 
located_in brush border TAS
Traceable Author Statement
more info
PubMed 
located_in cell junction IEA
Inferred from Electronic Annotation
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of filamentous actin ISO
Inferred from Sequence Orthology
more info
 
located_in microvillus ISO
Inferred from Sequence Orthology
more info
 
located_in stereocilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilium ISO
Inferred from Sequence Orthology
more info
 
located_in stereocilium bundle IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in stereocilium tip EXP
Inferred from Experiment
more info
PubMed 
located_in stereocilium tip IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
espin
Names
actin cytoskeletal regulatory protein
ectoplasmic specialization protein
jerker

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.

mRNA and Protein(s)

  1. NM_019585.3NP_062531.2  espin isoform 6

    See identical proteins and their annotated locations for NP_062531.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 6 which is shorter than isoform 1.
    Source sequence(s)
    AK002284, AL772240, CJ319194
    Consensus CDS
    CCDS18994.1
    UniProtKB/TrEMBL
    Q811J1, Q9DD12
    Related
    ENSMUSP00000037982.8, ENSMUST00000049305.14
    Conserved Domains (1) summary
    pfam02205
    Location:2348
    WH2; WH2 motif
  2. NM_207687.3NP_997570.1  espin isoform 1

    See identical proteins and their annotated locations for NP_997570.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AL772240
    Consensus CDS
    CCDS18989.1
    UniProtKB/Swiss-Prot
    Q9ET47, Q9QY27
    Related
    ENSMUSP00000030785.9, ENSMUST00000030785.15
    Conserved Domains (4) summary
    cd00204
    Location:166291
    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:103135
    ANK; ANK repeat [structural motif]
  3. NM_207688.2NP_997571.1  espin isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AK146701, AL772240, BY739473, CJ194793, CJ319194
    Consensus CDS
    CCDS18990.1
    UniProtKB/Swiss-Prot
    Q9ET47
    Related
    ENSMUSP00000081131.6, ENSMUST00000084114.12
  4. NM_207689.2NP_997572.1  espin isoform 4

    See identical proteins and their annotated locations for NP_997572.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 4 which is shorter than isoform 1.
    Source sequence(s)
    AK146701, AL772240, CJ194793, CJ319194
    Consensus CDS
    CCDS18991.1
    UniProtKB/Swiss-Prot
    Q9ET47
    Related
    ENSMUSP00000078951.7, ENSMUST00000080042.13
  5. NM_207690.2NP_997573.1  espin isoform 5

    See identical proteins and their annotated locations for NP_997573.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 5 which is shorter than isoform 1.
    Source sequence(s)
    AK146701, AL772240, CJ194793, CJ319194
    Consensus CDS
    CCDS18992.1
    UniProtKB/Swiss-Prot
    Q9ET47
    Related
    ENSMUSP00000101282.3, ENSMUST00000105657.9
  6. NM_207691.2NP_997574.2  espin isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3 which is shorter than isoform 1.
    Source sequence(s)
    AK146701, AL772240, BY739473, CJ194793, CJ319194
    Consensus CDS
    CCDS18993.1
    UniProtKB/Swiss-Prot
    Q9ET47
    Related
    ENSMUSP00000065545.8, ENSMUST00000070018.14

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    152204788..152236871 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006539060.3XP_006539123.1  espin isoform X2

    Related
    ENSMUSP00000101284.3, ENSMUST00000105659.9
    Conserved Domains (3) summary
    sd00045
    Location:103135
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:176266
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:856
    Ank_4; Ankyrin repeats (many copies)
  2. XM_006539063.3XP_006539126.1  espin isoform X4

    Related
    ENSMUSP00000101283.2, ENSMUST00000105658.8
    Conserved Domains (3) summary
    sd00045
    Location:103135
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:176266
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:856
    Ank_4; Ankyrin repeats (many copies)
  3. XM_006539061.3XP_006539124.1  espin isoform X3

    Conserved Domains (3) summary
    sd00045
    Location:103135
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:176266
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:856
    Ank_4; Ankyrin repeats (many copies)
  4. XM_006539059.3XP_006539122.1  espin isoform X1

    Conserved Domains (4) summary
    PHA02682
    Location:650757
    PHA02682; ORF080 virion core protein; Provisional
    sd00045
    Location:103135
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:176266
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:856
    Ank_4; Ankyrin repeats (many copies)