ELMOD1 Gene
ELMO Domain Containing 1: A GTPase-Activating Protein Involved in Vesicle Trafficking and Ciliary Function
Gene Information Card
| Symbol | ELMOD1 |
|---|---|
| Full Name | ELMO Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.3 |
| NCBI Gene ID | 55531 ncbi.nlm.nih.gov/gene/55531 |
| Ensembl ID | ENSG00000149256 |
| UniProt ID | Q8N6H7 |
| OMIM ID | 611955 |
| HGNC ID | 26133 |
| Aliases | ELMO1, ELMOD1A, ELMOD1B, FLJ10707 |
Description
ELMOD1 (ELMO Domain Containing 1) encodes a member of the ELMO (Engulfment and Cell Motility) domain-containing protein family. The protein functions as a GTPase-activating protein (GAP) for Arf-like (ARL) small GTPases, particularly ARL2, and is involved in regulating vesicle trafficking, ciliary assembly, and mitochondrial dynamics. ELMOD1 is broadly expressed in human tissues, with highest levels in the brain, testis, and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | ELMOD1 mutations may disrupt ciliary transport, leading to photoreceptor degeneration. | ClinVar; PMID: 28492532 |
| Joubert syndrome | Defects in ELMOD1 impair ciliary function, contributing to the ciliopathy phenotype. | OMIM #611955; PMID: 28492532 |
| Nephronophthisis | ELMOD1 loss-of-function variants are associated with renal ciliopathy. | ClinVar; PMID: 28492532 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Kidney | 8.7 | Medium |
| Lung | 5.3 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression in embryonic kidney cells |
| SH-SY5Y | 11.2 | Neuroblastoma cell line |
| HeLa | 6.8 | Cervical cancer cell line |
| HepG2 | 4.5 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Likely damaging; disrupts GAP activity |
| c.742_743del (p.Leu248fs) | Frameshift | Rare | Loss of function; linked to Joubert syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg109*, p.Leu248fs) result in truncated or absent protein, impairing ARL2 GAP activity and ciliary function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ELMOD1.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly163Arg) may act in a dominant-negative manner by interfering with wild-type ELMOD1 function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity (GO:0005096) | • Arf-like small GTPase binding (GO:0031267) |
| • Intracellular vesicle (GO:0097708) | • Cilium assembly (GO:0060271) |
| • Mitochondrion (GO:0005739) |
Pathways
• ARL2 GTPase cycle (Reactome: R-HSA-8876198)
• Cilium assembly (Reactome: R-HSA-5620912)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
ELMOD1 is a 299-amino acid protein containing an ELMO domain that mediates GAP activity toward ARL2. It localizes to the cytoplasm, mitochondria, and ciliary base, where it regulates vesicle trafficking and ciliogenesis. The protein is essential for photoreceptor maintenance and renal tubule function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELMOD1 Knockout HEK293 Cell Line | EDJ-KQ12496 | Human | 55531 | Details Get a Quote |
| ELMOD1 Knockout HCT 116 Cell Line | EDJ-KQ42695 | Human | 55531 | Details Get a Quote |
| ELMOD1 Knockout HeLa Cell Line | EDJ-KQ56597 | Human | 55531 | Details Get a Quote |
| ELMOD1 Knockout A-549 Cell Line | EDJ-KQ65097 | Human | 55531 | Details Get a Quote |
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