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EPS8L1 EPS8 like 1 [ Homo sapiens (human) ]

Gene ID: 54869, updated on 7-Dec-2018

Summary

Official Symbol
EPS8L1provided by HGNC
Official Full Name
EPS8 like 1provided by HGNC
Primary source
HGNC:HGNC:21295
See related
Ensembl:ENSG00000131037 MIM:614987
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
DRC3; EPS8R1; PP10566
Summary
This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in esophagus (RPKM 25.5), skin (RPKM 19.7) and 12 other tissues See more
Orthologs

Genomic context

See EPS8L1 in Genome Data Viewer
Location:
19q13.42
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (55075853..55087923)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55587221..55599291)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985325 Neighboring gene glycoprotein VI platelet Neighboring gene retinol dehydrogenase 13 Neighboring gene protein phosphatase 1 regulatory subunit 12C Neighboring gene microRNA 7975

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

  • MGC4642, FLJ20258, MGC23164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to Rac guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to Rac guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to Rho guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
T cell receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rho protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of ruffle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of ruffle assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of Rho protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
ruffle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
epidermal growth factor receptor kinase substrate 8-like protein 1
Names
EPS8-like protein 1
EPS8-related protein 1
epidermal growth factor receptor pathway substrate 8-related protein 1

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_017729.3NP_060199.3  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_060199.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate in-frame segment in the 5' coding region compared to variant 1. It encodes a shorter isoform (b) with a different N-terminus compared to isoform a.
    Source sequence(s)
    AF370395, AK075098, BC015763, DB018703
    Consensus CDS
    CCDS12915.1
    UniProtKB/Swiss-Prot
    Q8TE68
    Related
    ENSP00000245618.4, ENST00000245618.5
    Conserved Domains (2) summary
    cd09540
    Location:502567
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:355408
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
  2. NM_133180.3NP_573441.2  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_573441.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AF370395, AK075098, BC015763, DA452167
    Consensus CDS
    CCDS12914.1
    UniProtKB/Swiss-Prot
    Q8TE68
    Related
    ENSP00000201647.5, ENST00000201647.10
    Conserved Domains (3) summary
    cd09540
    Location:629694
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:482535
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:32162
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    55075853..55087923
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259020.2XP_005259077.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X1

    Conserved Domains (3) summary
    cd09540
    Location:661726
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:514567
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:32162
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  2. XM_011527051.3XP_011525353.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X3

    Conserved Domains (1) summary
    cd01210
    Location:32162
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  3. XM_011527052.3XP_011525354.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X4

    Related
    ENSP00000465830.1, ENST00000587786.5
    Conserved Domains (1) summary
    cd01210
    Location:32162
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  4. XM_011527050.1XP_011525352.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X2

    Conserved Domains (2) summary
    cd09540
    Location:534599
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:387440
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    979251..987042
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p12 ALT_REF_LOCI_2

    Range
    721055..728846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p12 ALT_REF_LOCI_3

    Range
    1055839..1063630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p12 ALT_REF_LOCI_4

    Range
    1083376..1091167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p12 ALT_REF_LOCI_5

    Range
    1057925..1065716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p12 ALT_REF_LOCI_6

    Range
    994218..1002009
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p12 ALT_REF_LOCI_7

    Range
    978635..986426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p12 ALT_REF_LOCI_8

    Range
    788014..795805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p12 ALT_REF_LOCI_9

    Range
    1058335..1066126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_139204.1: Suppressed sequence

    Description
    NM_139204.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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