2. Gene
  3. EPS15 - epidermal growth factor receptor pathway substrate 15 Gene

EPS15 - epidermal growth factor receptor pathway substrate 15 Gene

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

Also known as AF1P; AF-1P; MLLT5

Gene ID: 2060 | Gene type: protein coding

About EPS15

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:51,354,263-51,519,266 (from NCBI)

This gene has 16 transcripts (splice variants), 260 orthologues, 10 paralogues and is associated with 70 phenotypes. Ubiquitous expression in brain (RPKM 29.8), testis (RPKM 29.2) and 25 other tissues.

Summary

This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]

EPS15 Products(4)

mRNA Protein Name
NM_001159969.2 NP_001153441.1 epidermal growth factor receptor substrate 15 isoform B
NM_001410796.1 NP_001397725.1 epidermal growth factor receptor substrate 15 isoform C
NM_001410797.1 NP_001397726.1 epidermal growth factor receptor substrate 15 isoform D
NM_001981.3 NP_001972.1 epidermal growth factor receptor substrate 15 isoform A

EPS15 Protein Structure

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (32 - 85)

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (127 - 216)

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (222 - 314)

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  • 896 a.a.
Protein Preferred Names Protein Names

epidermal growth factor receptor substrate 15

ALL1 fused gene from chromosome 1

Recombinant EPS15 Proteins

Cat. No. Product Name Accession Purity
HY-P700485 EPS15 Protein, Human (His) P42566 (C657-D798) ≥95%

Related Diseases

Diseases Alias
Vaccinia
Menkes Disease

Copper Transport Disease

Menkes Syndrome

MNK

Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome

Mk

Steely Hair Syndrome

Menkea Syndrome

Md

Menkes Kinky Hair Syndrome

Hypocupremia, Congenital

Kinky Hair Syndrome

X-Linked Copper Deficiency

Menkes Kinky Hair Disease
Spastic Paraplegia 20, Autosomal Recessive

Troyer Syndrome

SPG20

Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting

Spastic Paraplegia, Autosomal Recessive, Troyer Type

Autosomal Recessive Spastic Paraplegia Type 20

Autosomal Recessive Hereditary Spastic Paraplegia

Spastic Paraplegia 20

Cross-Mckusick Syndrome

Autosomal Recessive Spastic Paraplegia 20

Autosomal Recessive Spastic Paraplegia Troyer Type

Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting

Hereditary Spastic Paraplegia 20

Spastic Paraplegia Type 20

Hereditary Spastic Paraplegia

Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome

Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting

Spastic Paraplegia Autosomal Recessive Troyer Type

Trs

Spastic Paraplegia Hereditary Autosomal Recessive

Spastic Paraplegia, Hereditary
Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive

Arh

FHCL4

Autosomal Recessive Hypercholesterolemia

Arh1

Arh2

Autosomal Recessive Hypercholesterolemia 1

Autosomal Recessive Hypercholesterolemia 2

Fhcb1

Fhcb2

Hypercholesterolemia, Autosomal Recessive, 1, Formerly

Arh1, Formerly

Fhcb1, Formerly

Hypercholesterolemia, Autosomal Recessive, 2, Formerly

Arh2, Formerly

Fhcb2, Formerly

Familial Autosomal Recessive Hypercholesterolemia

Hypercholesterolemia, Familial, Autosomal Recessive

Hypercholesterolemia, Familial, Type 4
Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial
Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease
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 (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04452 EPS15 Human Pre-designed siRNA Set A / Unkown
HY-RS04453 EPS15L1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus EPS15 MGD MGI:104583
Felis catus EPS15 VGNC VGNC:61918
Rattus norvegicus EPS15 RGD RGD:1305550
Macaca mulatta EPS15 VGNC VGNC:72248
Bos taurus EPS15 VGNC VGNC:28553
Others EPS15 NCBI