2. Gene
  3. EPS15L1 - epidermal growth factor receptor pathway substrate 15 like 1 Gene

EPS15L1 - epidermal growth factor receptor pathway substrate 15 like 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as EPS15R

Gene ID: 58513 | Gene type: protein coding

About EPS15L1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:16,355,247-16,472,012 (from NCBI)

This gene has 16 transcripts (splice variants), 293 orthologues, 10 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 4.8), heart (RPKM 4.6) and 25 other tissues.

Summary

Enables cadherin binding activity. Predicted to be involved in endocytosis and endosomal transport. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

EPS15L1 Products(4)

mRNA Protein Name
NM_001258374.3 NP_001245303.1 epidermal growth factor receptor substrate 15-like 1 isoform 1
NM_001258375.2 NP_001245304.1 epidermal growth factor receptor substrate 15-like 1 isoform 3
NM_001258376.2 NP_001245305.1 epidermal growth factor receptor substrate 15-like 1 isoform 4
NM_021235.3 NP_067058.1 epidermal growth factor receptor substrate 15-like 1 isoform 2

EPS15L1 Protein Structure

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (33 - 80)

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (126 - 215)

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (279 - 361)

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  • 864 a.a.
Protein Preferred Names Protein Names

epidermal growth factor receptor substrate 15-like 1

epidermal growth factor receptor substrate EPS15R

Related Diseases

Diseases Alias
Isolated Split Hand-Split Foot Malformation

Ectrodactyly

Shfm

Split Hand Foot Malformation

Split-Hand/Foot Malformation

Split Hand Foot Deformity 1

Split Hand Foot Deformity
Split-Hand/Foot Malformation 6

Split Hand-Foot Malformation 6

SHFM6

Ectrodactyly, Autosomal Recessive

Ectrodactyly Autosomal Recessive

Split-Hand/Foot Malformation, Type 6
Split-Hand/Foot Malformation 5

Split Hand-Foot Malformation 5

SHFM5
Split-Hand/Foot Malformation 2

SHFM2

Shfd2

Shsf2

Split Hand/Foot Malformation 2

Split Hand-Foot Malformation 2

Split-Hand/Split-Foot Anomaly, X-Linked

Split-Hand/Foot Deformity 2

Split Hand/Foot Malformation X-Linked

Split Hand Foot Anomaly - X-Linked

Split Hand Foot Deformity 2
Split-Hand/Foot Malformation 4

SHFM4

Split Hand-Foot Malformation 4

Split-Hand/Foot Malformation, Type 4
Split Hand-Foot Malformation

Ectrodactyly

Split-Hand/Foot Malformation

Lobster-Claw Deformity

Split-Hand Deformity

Split Hand Foot Malformation

Shfm

Split Hand Foot Deformity

Split Hand Foot Deformity 1
Chemical Colitis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04453 EPS15L1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta EPS15L1 VGNC VGNC:72100
Bos taurus EPS15L1 VGNC VGNC:28554
Felis catus EPS15L1 VGNC VGNC:61919
Mus musculus EPS15L1 MGD MGI:104582
Canis familiaris EPS15L1 VGNC VGNC:40426
Rattus norvegicus EPS15L1 RGD RGD:1565708