Eps15l1 epidermal growth factor receptor pathway substrate 15-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Eps15l1provided by MGI
Official Full Name: epidermal growth factor receptor pathway substrate 15-like 1provided by MGI
Primary source: MGI:MGI:104582
See related: Ensembl:ENSMUSG00000006276 AllianceGenome:MGI:104582
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Eps15R; Eps15-rs; 9830147J04Rik
Summary: Predicted to enable calcium ion binding activity. Involved in synaptic vesicle endocytosis. Part of clathrin coat of coated pit. Is active in presynapse. Is expressed in several structures, including alimentary system; liver; metanephros; nervous system; and sensory organ. Orthologous to human EPS15L1 (epidermal growth factor receptor pathway substrate 15 like 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 13.8), CNS E14 (RPKM 12.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8 35.02 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (73094834..73175410, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (72340990..72421576, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel interaction motif in Eps15R, DPFxxLDPF, is shown to bind directly to the clathrin terminal domain in vitro. Interaction between Eps15R and clathrin is required for EphB2-mediated cell repulsion.
Title: Eps15R and clathrin regulate EphB2-mediated cell repulsion.
EPS15 and EPS15R mediated internalization of activated EGF receptor to result in receptor recycling as to reinforce the proliferative response to EGF.
Title: EPS15R, TASP1, and PRPF3 are novel disease candidate genes targeted by HNF4alpha splice variants in hepatocellular carcinomas.
a short amino-acid stretch at the carboxy-termini of the monoubiquitinated endocytic proteins Eps15 and eps15R is indispensable for their monoubiquitination
Title: A single motif responsible for ubiquitin recognition and monoubiquitination in endocytic proteins.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235928

AI593686 (e-PCR)
- UniSTS:165588

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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
involved_in synaptic vesicle endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle endocytosis	IEP Inferred from Expression Pattern more info	PubMed
involved_in synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of clathrin coat of coated pit	IBA Inferred from Biological aspect of Ancestor more info
part_of clathrin coat of coated pit	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in presynapse	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: epidermal growth factor receptor substrate 15-like 1

Names: epidermal growth factor receptor pathway substrate 15-related sequence; 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)

NM_001122832.1 → NP_001116304.1 epidermal growth factor receptor substrate 15-like 1 isoform b

See identical proteins and their annotated locations for NP_001116304.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several 3' exons compared to variant 1, and its 3' terminal exon extends past a splice site that is used in variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.

Source sequence(s)

AA217470, AK036728, BY270130

Consensus CDS

CCDS85560.1

UniProtKB/TrEMBL

A0A1D5RLS1

Related

ENSMUSP00000148484.2, ENSMUST00000212590.3

Conserved Domains (4) summary

smart00027
Location:266 → 362

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 ...

pfam07926
Location:396 → 523

TPR_MLP1_2; TPR/MLP1/MLP2-like protein

cl23720
Location:400 → 517

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
NM_001289859.1 → NP_001276788.1 epidermal growth factor receptor substrate 15-like 1 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site and lacks two consecutive exons in the 3' coding region, compared to variant 1. It encodes isoform c, which is shorter than isoform a.

Source sequence(s)

AK146781, AK152602, BB855263, CD774936

Consensus CDS

CCDS85561.1

UniProtKB/Swiss-Prot

Q60902

Related

ENSMUSP00000148468.2, ENSMUST00000212121.2

Conserved Domains (4) summary

smart00027
Location:266 → 362

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 ...

pfam07926
Location:396 → 523

TPR_MLP1_2; TPR/MLP1/MLP2-like protein

cl23720
Location:400 → 517

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
NM_007944.3 → NP_031970.2 epidermal growth factor receptor substrate 15-like 1 isoform a

See identical proteins and their annotated locations for NP_031970.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AK146781, BY270130, CD774936

Consensus CDS

CCDS52597.1

UniProtKB/Swiss-Prot

Q3U7L9, Q3UIS9, Q60902, Q8CB60, Q8CB70, Q91WH8

Related

ENSMUSP00000129739.2, ENSMUST00000163643.3

Conserved Domains (4) summary

smart00027
Location:266 → 362

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 ...

pfam07926
Location:396 → 523

TPR_MLP1_2; TPR/MLP1/MLP2-like protein

cl02488
Location:383 → 564

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; ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

73094834..73175410 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017312560.3 → XP_017168049.1 epidermal growth factor receptor substrate 15-like 1 isoform X6

Conserved Domains (3) summary

smart00027
Location:266 → 362

EH; Eps15 homology domain

COG1196
Location:383 → 565

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cl27812
Location:13 → 103

EF-hand_4; Cytoskeletal-regulatory complex EF hand
XM_006509550.4 → XP_006509613.1 epidermal growth factor receptor substrate 15-like 1 isoform X7

Conserved Domains (2) summary

COG1196
Location:97 → 278

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cl27812
Location:30 → 76

EF-hand_4; Cytoskeletal-regulatory complex EF hand
XM_006509548.5 → XP_006509611.1 epidermal growth factor receptor substrate 15-like 1 isoform X5

Conserved Domains (3) summary

smart00027
Location:266 → 362

EH; Eps15 homology domain

COG1196
Location:383 → 564

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cl27812
Location:13 → 103

EF-hand_4; Cytoskeletal-regulatory complex EF hand
XM_006509547.5 → XP_006509610.1 epidermal growth factor receptor substrate 15-like 1 isoform X4

Conserved Domains (3) summary

smart00027
Location:266 → 362

EH; Eps15 homology domain

COG1196
Location:383 → 564

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cl27812
Location:13 → 103

EF-hand_4; Cytoskeletal-regulatory complex EF hand
XM_006509544.5 → XP_006509607.1 epidermal growth factor receptor substrate 15-like 1 isoform X1

UniProtKB/TrEMBL

A0AAQ4VMU6

Related

ENSMUSP00000159997.1, ENSMUST00000249899.1

Conserved Domains (3) summary

smart00027
Location:266 → 362

EH; Eps15 homology domain

COG1196
Location:383 → 564

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cl27812
Location:13 → 103

EF-hand_4; Cytoskeletal-regulatory complex EF hand
XM_006509546.5 → XP_006509609.1 epidermal growth factor receptor substrate 15-like 1 isoform X3

Conserved Domains (3) summary

smart00027
Location:266 → 362

EH; Eps15 homology domain

COG1196
Location:383 → 565

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cl27812
Location:13 → 103

EF-hand_4; Cytoskeletal-regulatory complex EF hand
XM_006509545.5 → XP_006509608.1 epidermal growth factor receptor substrate 15-like 1 isoform X2

Conserved Domains (3) summary

smart00027
Location:266 → 362

EH; Eps15 homology domain

COG1196
Location:383 → 565

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cl27812
Location:13 → 103

EF-hand_4; Cytoskeletal-regulatory complex EF hand