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EPS15L1 epidermal growth factor receptor pathway substrate 15 like 1 [ Homo sapiens (human) ]

Gene ID: 58513, updated on 4-Oct-2020

Summary

Official Symbol
EPS15L1provided by HGNC
Official Full Name
epidermal growth factor receptor pathway substrate 15 like 1provided by HGNC
Primary source
HGNC:HGNC:24634
See related
Ensembl:ENSG00000127527 MIM:616826
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
Also known as
EPS15R
Expression
Ubiquitous expression in brain (RPKM 4.8), heart (RPKM 4.6) and 25 other tissues See more
Orthologs

Genomic context

See EPS15L1 in Genome Data Viewer
Location:
19p13.11
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (16355244..16472012, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16466055..16582823, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 1 subunit mu 1 Neighboring gene Kruppel like factor 2 Neighboring gene ribosomal protein S2 pseudogene 51 Neighboring gene calreticulin 3 Neighboring gene chromosome 19 open reading frame 44 Neighboring gene calcium homeostasis endoplasmic reticulum protein

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

Phenotypes

Associated conditions

Description Tests
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
GeneReviews: Not available
Multiple loci are associated with white blood cell phenotypes.
GeneReviews: Not available
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
clathrin coat of coated pit IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
epidermal growth factor receptor substrate 15-like 1
Names
epidermal growth factor receptor substrate EPS15R
eps15-related 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.

mRNA and Protein(s)

  1. NM_001258374.3NP_001245303.1  epidermal growth factor receptor substrate 15-like 1 isoform 1

    See identical proteins and their annotated locations for NP_001245303.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC008764, AC020917
    Consensus CDS
    CCDS58654.1
    UniProtKB/Swiss-Prot
    Q9UBC2
    Related
    ENSP00000393313.1, ENST00000455140.7
    Conserved Domains (4) summary
    smart00027
    Location:121214
    EH; Eps15 homology domain
    cd00052
    Location:131196
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cd00176
    Location:385572
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam15619
    Location:385555
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  2. NM_001258375.2NP_001245304.1  epidermal growth factor receptor substrate 15-like 1 isoform 3

    See identical proteins and their annotated locations for NP_001245304.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK024166, BC131590, BU075732
    Consensus CDS
    CCDS58653.1
    UniProtKB/Swiss-Prot
    Q9UBC2
    UniProtKB/TrEMBL
    A0A024R7G6
    Related
    ENSP00000440103.1, ENST00000535753.6
    Conserved Domains (3) summary
    smart00027
    Location:121214
    EH; Eps15 homology domain
    cd00052
    Location:1985
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl25732
    Location:384569
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001258376.2NP_001245305.1  epidermal growth factor receptor substrate 15-like 1 isoform 4

    See identical proteins and their annotated locations for NP_001245305.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC020917, AU121887, BC142716, CA446537
    Consensus CDS
    CCDS59363.1
    UniProtKB/Swiss-Prot
    Q9UBC2
    Related
    ENSP00000472267.1, ENST00000597937.5
    Conserved Domains (3) summary
    smart00027
    Location:121214
    EH; Eps15 homology domain
    cd00052
    Location:1985
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl25732
    Location:385569
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_021235.3NP_067058.1  epidermal growth factor receptor substrate 15-like 1 isoform 2

    See identical proteins and their annotated locations for NP_067058.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF110265, AU121887, BU075732
    Consensus CDS
    CCDS32944.1
    UniProtKB/Swiss-Prot
    Q9UBC2
    Related
    ENSP00000248070.5, ENST00000248070.10
    Conserved Domains (4) summary
    smart00027
    Location:121214
    EH; Eps15 homology domain
    cd00052
    Location:131196
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cd00176
    Location:385572
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam15619
    Location:385555
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

RNA

  1. NR_047665.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008764, AC020917
  2. NR_047666.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK297428, AU121887, BU075732, DC416977
    Related
    ENST00000592031.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    16355244..16472012 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027089.2XP_016882578.1  epidermal growth factor receptor substrate 15-like 1 isoform X4

  2. XM_017027090.2XP_016882579.1  epidermal growth factor receptor substrate 15-like 1 isoform X5

  3. XM_017027086.2XP_016882575.1  epidermal growth factor receptor substrate 15-like 1 isoform X1

  4. XM_017027091.2XP_016882580.1  epidermal growth factor receptor substrate 15-like 1 isoform X6

  5. XM_017027088.2XP_016882577.1  epidermal growth factor receptor substrate 15-like 1 isoform X3

  6. XM_017027087.2XP_016882576.1  epidermal growth factor receptor substrate 15-like 1 isoform X2

  7. XM_017027092.2XP_016882581.1  epidermal growth factor receptor substrate 15-like 1 isoform X7

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