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

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; 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, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 4.8), heart (RPKM 4.6) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Go to the top of the page Help

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 EBI GWAS CatalogPubMed
Multiple loci are associated with white blood cell phenotypes. EBI GWAS Catalog EBI GWAS CatalogPubMed
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH36023 (e-PCR)
- UniSTS:39770

MARC_16107-16108:1018030388:1 (e-PCR)
- UniSTS:267963

RH47699 (e-PCR)
- UniSTS:90329

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	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 more info	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

Go to the top of the page Help

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

Names: epidermal growth factor receptor substrate EPS15R; eps15-related protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_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 ...
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 ...
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
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

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
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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

16355247..16472012 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

M0R165
XM_017027089.3 → XP_016882578.1 epidermal growth factor receptor substrate 15-like 1 isoform X2

UniProtKB/TrEMBL

M0R165
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
XM_047439174.1 → XP_047295130.1 epidermal growth factor receptor substrate 15-like 1 isoform X4

UniProtKB/TrEMBL

B4DME4
XM_017027092.3 → XP_016882581.1 epidermal growth factor receptor substrate 15-like 1 isoform X7

UniProtKB/TrEMBL

M0R165

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

16490074..16606830 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

M0R165
XM_054321641.1 → XP_054177616.1 epidermal growth factor receptor substrate 15-like 1 isoform X6

UniProtKB/TrEMBL

M0R165
XM_054321638.1 → XP_054177613.1 epidermal growth factor receptor substrate 15-like 1 isoform X3

UniProtKB/TrEMBL

M0R165
XM_054321637.1 → XP_054177612.1 epidermal growth factor receptor substrate 15-like 1 isoform X2

UniProtKB/TrEMBL

M0R165
XM_054321636.1 → XP_054177611.1 epidermal growth factor receptor substrate 15-like 1 isoform X1

UniProtKB/TrEMBL

A0AAQ5BI61, B4DME4
XM_054321639.1 → XP_054177614.1 epidermal growth factor receptor substrate 15-like 1 isoform X4

UniProtKB/TrEMBL

B4DME4
XM_054321642.1 → XP_054177617.1 epidermal growth factor receptor substrate 15-like 1 isoform X7

UniProtKB/TrEMBL

M0R165