ELAPOR1
Endosome-Lysosome Associated Apoptosis and Autophagy Regulator 1
Gene Information Card
| Symbol | ELAPOR1 |
|---|---|
| Full Name | Endosome-Lysosome Associated Apoptosis and Autophagy Regulator 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 57209 ncbi.nlm.nih.gov/gene/57209 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q9UPU5 |
| OMIM ID | 607935 |
| HGNC ID | 29019 |
| Aliases | KIAA1324, EIG121, FLJ12529 |
Description
ELAPOR1 (Endosome-Lysosome Associated Apoptosis and Autophagy Regulator 1) is a protein-coding gene located on chromosome 1q32.1. It encodes a transmembrane protein involved in the regulation of autophagy and apoptosis, particularly in response to cellular stress. The protein localizes to endosomes and lysosomes and is implicated in tumor suppression and immune modulation. Expression is elevated in certain cancers, including ovarian and endometrial carcinomas, and is associated with estrogen receptor signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian carcinoma | Overexpression; potential role in autophagy-mediated cell survival | PMID: 21880706 |
| Endometrial carcinoma | Upregulated by estrogen; involved in apoptosis regulation | PMID: 16204001 |
| Breast cancer | Differential expression; linked to estrogen receptor status | PMID: 19177216 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 15.2 | Medium |
| Endometrium | 12.8 | Medium |
| Breast | 8.5 | Low |
| Liver | 3.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| OVCAR-3 (ovarian cancer) | 18.5 | High expression |
| MCF-7 (breast cancer) | 9.3 | Moderate expression |
| HeLa (cervical cancer) | 6.7 | Low expression |
| HepG2 (liver cancer) | 2.4 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% in COSMIC | Loss of function; truncation |
| c.567G>A (p.Met189Ile) | Missense | 0.2% in COSMIC | Unknown functional effect |
| c.2101_2102insA | Frameshift | <0.1% in COSMIC | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, c.2101_2102insA) are predicted to cause loss of function by truncating the protein or disrupting the reading frame.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ELAPOR1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ELAPOR1.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • apoptotic process |
| • lysosome | • endosome |
| • protein binding | • membrane |
Pathways
• Autophagy - animal
• Apoptosis
• Estrogen signaling pathway
Protein Summary
The ELAPOR1 protein is a 1,082-amino-acid transmembrane protein with a molecular weight of approximately 120 kDa. It contains multiple transmembrane domains and localizes to endosomes and lysosomes. The protein regulates autophagy and apoptosis, and its expression is induced by estrogen. It interacts with BECN1 (Beclin 1) to modulate autophagosome formation. In cancer, ELAPOR1 may act as a tumor suppressor or promoter depending on context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELAPOR1 Knockout HEK293 Cell Line | EDJ-KQ13273 | Human | 57535 | Details Get a Quote |
| ELAPOR1 Knockout HeLa Cell Line | EDJ-KQ42686 | Human | 57535 | Details Get a Quote |
| ELAPOR1 Knockout A-549 Cell Line | EDJ-KQ65374 | Human | 57535 | Details Get a Quote |
| ELAPOR1 Knockout HCT 116 Cell Line | EDJ-KQ73812 | Human | 57535 | Details Get a Quote |
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