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ESPNL espin like [ Homo sapiens (human) ]

Gene ID: 339768, updated on 13-May-2022

Summary

Official Symbol
ESPNLprovided by HGNC
Official Full Name
espin likeprovided by HGNC
Primary source
HGNC:HGNC:27937
See related
Ensembl:ENSG00000144488 AllianceGenome:HGNC:27937
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable actin filament binding activity. Predicted to be involved in actin filament bundle assembly and sensory perception of sound. Predicted to be located in stereocilium tip. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See ESPNL in Genome Data Viewer
Location:
2q37.3
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (238100340..238133287)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (238590236..238623038)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239008981..239041928)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene UBE2F-SCLY readthrough (NMD candidate) Neighboring gene ubiquitin conjugating enzyme E2 F (putative) Neighboring gene RNA, U6 small nuclear 1333, pseudogene Neighboring gene selenocysteine lyase Neighboring gene Sharpr-MPRA regulatory region 4740 Neighboring gene kelch like family member 30 Neighboring gene erythroferrone

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42568, MGC99829

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
enables protein binding IPI
Inferred from Physical Interaction
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 sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in stereocilium tip ISS
Inferred from Sequence or Structural Similarity
more info
 

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.

mRNA and Protein(s)

  1. NM_001308370.2NP_001295299.1  espin-like protein isoform 2

    See identical proteins and their annotated locations for NP_001295299.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC016757, AK128187, BC042051, BC080639
    Consensus CDS
    CCDS77547.1
    UniProtKB/Swiss-Prot
    Q6ZVH7
    UniProtKB/TrEMBL
    B3KXY4
    Related
    ENSP00000386579.1, ENST00000409506.1
  2. NM_194312.4NP_919288.2  espin-like protein isoform 1

    See identical proteins and their annotated locations for NP_919288.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC016757, AK124559, AK128187, BC080639
    Consensus CDS
    CCDS2525.1
    UniProtKB/Swiss-Prot
    Q6ZVH7
    UniProtKB/TrEMBL
    B3KXY4
    Related
    ENSP00000339115.3, ENST00000343063.8
    Conserved Domains (5) summary
    cd00204
    Location:165291
    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:209301
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:856
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:103134
    ANK; ANK repeat [structural motif]
    cl02529
    Location:856
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    238100340..238133287
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511087.2XP_011509389.1  espin-like protein isoform X1

    See identical proteins and their annotated locations for XP_011509389.1

    UniProtKB/TrEMBL
    B3KXY4
    Related
    ENST00000477241.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    238590236..238623038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)