EHD1: EH Domain Containing 1
Key regulator of endocytic recycling and membrane trafficking
Gene Information Card
| Symbol | EHD1 |
|---|---|
| Full Name | EH domain containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 10938 ncbi.nlm.nih.gov/gene/10938 |
| Ensembl ID | ENSG00000110047 |
| UniProt ID | Q9H4M9 |
| OMIM ID | 605888 |
| HGNC ID | 3242 |
| Aliases | PAST, H-PAST, PAST1 |
Description
EHD1 (EH domain containing 1) encodes a member of the EHD protein family, which contains an N-terminal EF-hand domain and a C-terminal EH domain. The protein localizes to the endocytic recycling compartment and regulates the recycling of internalized receptors and lipids back to the plasma membrane. It plays a critical role in membrane trafficking, ciliogenesis, and cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease | Impaired endocytic recycling affecting peripheral nerve function | ClinVar: pathogenic variants in EHD1 associated with CMT |
| Primary ciliary dyskinesia | Defective ciliogenesis due to disrupted EHD1-mediated trafficking | OMIM: 605888 |
| Cancer (various) | Altered expression and mutations may contribute to tumor progression via dysregulated receptor recycling | COSMIC: somatic mutations in multiple cancer types |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 14.2 | Medium |
| Lung | 9.7 | Low |
| Testis | 18.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK293 | 12.8 | Embryonic kidney cells |
| A549 | 10.1 | Lung carcinoma |
| MCF7 | 8.7 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148Trp) | Missense | 0.01% | Likely pathogenic in CMT; disrupts EF-hand domain |
| c.1015G>A (p.Gly339Arg) | Missense | 0.005% | Uncertain significance; reported in ClinVar |
| c.1234_1235del (p.Lys412GlufsTer3) | Frameshift | 0.001% | Loss of function; associated with ciliopathy |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein, impairing endocytic recycling.
Gain of Function (GOF)
Not well documented; some missense variants may alter recycling kinetics.
Dominant Negative (DN)
Missense mutations in the EH domain may interfere with wild-type EHD1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endocytic recycling (Reactome: R-HSA-432722)
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
• Cargo recognition for clathrin-mediated endocytosis (Reactome: R-HSA-8856825)
Protein Summary
EHD1 is a 534-amino acid protein with a molecular weight of approximately 60 kDa. It contains an N-terminal EF-hand domain that binds calcium and a C-terminal EH domain that interacts with proteins containing NPF motifs. EHD1 functions as a mechanochemical ATPase, driving membrane tubulation and fission during endocytic recycling. It is ubiquitously expressed and localizes to the endocytic recycling compartment, early endosomes, and cilia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EHD1 Knockout HEK293 Cell Line | EDJ-KQ7220 | Human | 10938 | Details Get a Quote |
| EHD1 Knockout HCT 116 Cell Line | EDJ-KQ32180 | Human | 10938 | Details Get a Quote |
| EHD1 Knockout HeLa Cell Line | EDJ-KQ32181 | Human | 10938 | Details Get a Quote |
| EHD1 Knockout A-549 Cell Line | EDJ-KQ30805 | Human | 10938 | Details Get a Quote |
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