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

Gene ID: 58513, updated on 13-May-2016
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 HPRD:09445; MIM:616826; Vega:OTTHUMG00000182361
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
Orthologs
Location:
19p13.11
Exon count:
24
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 mu 1 subunit Neighboring gene Kruppel-like factor 2 Neighboring gene uncharacterized LOC105372294 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

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
NHGRI GWA Catalog
Multiple loci are associated with white blood cell phenotypes.
NHGRI GWA Catalog
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
NHGRI GWA Catalog
  • EGFR downregulation, organism-specific biosystem (from REACTOME)
    EGFR downregulation, organism-specific biosystemRegulation of receptor tyrosine kinase (RTK) activity is implicated in the control of almost all cellular functions. One of the best understood RTKs is epidermal growth factor receptor (EGFR). Growth...
  • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
    Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
epidermal growth factor receptor substrate 15-like 1
Names
epidermal growth factor receptor pathway substrate 15-like 1
epidermal growth factor receptor substrate EPS15R
eps15-related protein

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_001258374.1NP_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)
    AU121887, BC067114, CA311813, DC416977
    Consensus CDS
    CCDS58654.1
    UniProtKB/Swiss-Prot
    Q9UBC2
    Related
    ENSP00000393313, OTTHUMP00000269202, ENST00000455140, OTTHUMT00000461039
    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; ...
    pfam05672
    Location:356537
    MAP7; MAP7 (E-MAP-115) family
  2. NM_001258375.1NP_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, DC416977
    Consensus CDS
    CCDS58653.1
    UniProtKB/Swiss-Prot
    Q9UBC2
    UniProtKB/TrEMBL
    A0A024R7G6
    Related
    ENSP00000440103, OTTHUMP00000269204, ENST00000535753, OTTHUMT00000461041
    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 ...
    pfam05672
    Location:356537
    MAP7; MAP7 (E-MAP-115) family
    cl02488
    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; ...
  3. NM_001258376.1NP_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, DC416977
    Consensus CDS
    CCDS59363.1
    UniProtKB/Swiss-Prot
    Q9UBC2
    Related
    ENSP00000472267, OTTHUMP00000269208, ENST00000597937, OTTHUMT00000461045
    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 ...
    pfam05672
    Location:356537
    MAP7; MAP7 (E-MAP-115) family
    cl02488
    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; ...
  4. NM_021235.2NP_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, DC416977
    Consensus CDS
    CCDS32944.1
    UniProtKB/Swiss-Prot
    Q9UBC2
    Related
    ENSP00000248070, OTTHUMP00000269203, ENST00000248070, OTTHUMT00000461040
    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; ...
    pfam05672
    Location:356537
    MAP7; MAP7 (E-MAP-115) family

RNA

  1. NR_047665.1 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)
    AU121887, BC051873, CA311813, DC416977
  2. NR_047666.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site and differs in the 3' terminus, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297428, AU121887, BU075732, DC416977
    Related
    ENST00000592031, OTTHUMT00000460766

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    16465586..16582344 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)