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

    Gene ID: 58513, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:24634
    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
    Summary
    Enables cadherin binding activity. Predicted to be involved in endosomal transport and synaptic vesicle endocytosis. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 4.8), heart (RPKM 4.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EPS15L1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16355247..16472012, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (16490074..16606830, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16466058..16582823, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene KLF2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14221 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16435432-16436204 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16436205-16436975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14224 Neighboring gene KLF transcription factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14228 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16486555-16487056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16494079-16494580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16528701-16529304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14230 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16531117-16531720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16531721-16532324 Neighboring gene ribosomal protein S2 pseudogene 51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16551872-16552372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16552373-16552873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14232 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:16555578-16556777 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16564379-16564879 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16565415-16565914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16567358-16568116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16572441-16573108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16573109-16573776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16575487-16576411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16581959-16582870 Neighboring gene Sharpr-MPRA regulatory region 3003 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16606242-16606742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16606743-16607243 Neighboring gene calreticulin 3 Neighboring gene chromosome 19 open reading frame 44 Neighboring gene calcium homeostasis endoplasmic reticulum protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation. Umair M, et al. Clin Genet, 2018 Mar. PMID 29023680
    2. eps15 and eps15R are essential components of the endocytic pathway. Carbone R, et al. Cancer Res, 1997 Dec 15. PMID 9407958
    3. A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation. Bens S, et al. Eur J Med Genet, 2011 Sep-Oct. PMID 21700002
    4. Differential nucleocytoplasmic trafficking between the related endocytic proteins Eps15 and Eps15R. Poupon V, et al. J Biol Chem, 2002 Mar 15. PMID 11777906
    5. The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport. Doria M, et al. J Cell Biol, 1999 Dec 27. PMID 10613896, Free PMC Article

    See all (112) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This is the first biallelic variant identified in the EPS15L1 gene underlying SHFM. Our findings report the first direct involvement of EPS15L1 gene in the development of human limbs.
      Title: First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
    EBI GWAS Catalog
    Multiple loci are associated with white blood cell phenotypes.
    EBI GWAS Catalog
    White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of clathrin coat of coated pit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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

    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_001258374.3 → NP_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/TrEMBL
      B4DME4
      Related
      ENSP00000393313.1, ENST00000455140.7
      Conserved Domains (3) summary
      smart00027
      Location:121 → 214
      EH; Eps15 homology domain
      COG1196
      Location:384 → 569
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00052
      Location:19 → 85
      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 ...

    2. NM_001258375.2 → NP_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/TrEMBL
      M0R165
      Related
      ENSP00000440103.1, ENST00000535753.6
      Conserved Domains (3) summary
      smart00027
      Location:121 → 214
      EH; Eps15 homology domain
      COG1196
      Location:384 → 569
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00052
      Location:19 → 85
      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 ...

    3. NM_001258376.2 → NP_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/TrEMBL
      A5PKY0
      Related
      ENSP00000472267.1, ENST00000597937.5
      Conserved Domains (3) summary
      smart00027
      Location:121 → 214
      EH; Eps15 homology domain
      cd00052
      Location:19 → 85
      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:385 → 569
      SMC_N; RecF/RecN/SMC N terminal domain

    4. NM_021235.3 → NP_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
      A2RRF3, A5PL29, B4DKA3, Q9UBC2
      UniProtKB/TrEMBL
      B4DME4
      Related
      ENSP00000248070.5, ENST00000248070.10
      Conserved Domains (4) summary
      smart00027
      Location:121 → 214
      EH; Eps15 homology domain
      cd00052
      Location:131 → 196
      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:385 → 572
      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:385 → 555
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      16355247..16472012 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027090.3 → XP_016882579.1  epidermal growth factor receptor substrate 15-like 1 isoform X5

      UniProtKB/TrEMBL
      M0R165
      Conserved Domains (3) summary
      smart00027
      Location:121 → 214
      EH; Eps15 homology domain
      COG1196
      Location:385 → 569
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00052
      Location:19 → 85
      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 ...

    2. XM_017027091.3 → XP_016882580.1  epidermal growth factor receptor substrate 15-like 1 isoform X6

      UniProtKB/TrEMBL
      M0R165
      Conserved Domains (3) summary
      smart00027
      Location:121 → 214
      EH; Eps15 homology domain
      COG1196
      Location:384 → 569
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00052
      Location:19 → 85
      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 ...

    3. XM_047439173.1 → XP_047295129.1  epidermal growth factor receptor substrate 15-like 1 isoform X3

    4. XM_017027089.3 → XP_016882578.1  epidermal growth factor receptor substrate 15-like 1 isoform X2

      UniProtKB/TrEMBL
      M0R165

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

      UniProtKB/TrEMBL
      A0AAQ5BI61, B4DME4
      Related
      ENSP00000519782.1, ENST00000714540.1

    6. XM_047439174.1 → XP_047295130.1  epidermal growth factor receptor substrate 15-like 1 isoform X4

    7. XM_017027092.3 → XP_016882581.1  epidermal growth factor receptor substrate 15-like 1 isoform X7

      UniProtKB/TrEMBL
      M0R165

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      16490074..16606830 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321640.1 → XP_054177615.1  epidermal growth factor receptor substrate 15-like 1 isoform X5

    2. XM_054321641.1 → XP_054177616.1  epidermal growth factor receptor substrate 15-like 1 isoform X6

    3. XM_054321638.1 → XP_054177613.1  epidermal growth factor receptor substrate 15-like 1 isoform X3

    4. XM_054321637.1 → XP_054177612.1  epidermal growth factor receptor substrate 15-like 1 isoform X2

    5. XM_054321636.1 → XP_054177611.1  epidermal growth factor receptor substrate 15-like 1 isoform X1

      UniProtKB/TrEMBL
      A0AAQ5BI61

    6. XM_054321639.1 → XP_054177614.1  epidermal growth factor receptor substrate 15-like 1 isoform X4

    7. XM_054321642.1 → XP_054177617.1  epidermal growth factor receptor substrate 15-like 1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBC2.1 GenPept UniProtKB/Swiss-Prot:Q9UBC2

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