APOLD1: Apolipoprotein L Domain Containing 1
A gene encoding a protein involved in endothelial cell function and angiogenesis.
Gene Information Card
| Symbol | APOLD1 |
|---|---|
| Full Name | Apolipoprotein L Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 81575 ncbi.nlm.nih.gov/gene/81575 |
| Ensembl ID | ENSG00000178878 |
| UniProt ID | Q96LR5 |
| OMIM ID | 610994 |
| HGNC ID | 19987 |
| Aliases | APOLD1, FLJ10656, MGC13170 |
Description
APOLD1 (Apolipoprotein L Domain Containing 1) is a protein-coding gene located on chromosome 12p13.31. The encoded protein is involved in endothelial cell function, angiogenesis, and vascular permeability. It is expressed in various tissues, particularly in the heart, lung, and placenta. APOLD1 is also implicated in cancer and cardiovascular diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | APOLD1 expression is altered in several cancers, potentially affecting tumor angiogenesis and metastasis. | COSMIC, NCBI Gene |
| Cardiovascular disease | APOLD1 plays a role in endothelial cell function and vascular permeability, which are critical in cardiovascular pathology. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.2 | Low |
| Placenta | 15.3 | Medium |
| Kidney | 6.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (Human Umbilical Vein Endothelial Cells) | 18.7 | High expression in endothelial cells |
| HeLa | 2.1 | Low expression |
| HEK293 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | 0.01% | Unknown functional effect |
| c.456G>A | Synonymous | 0.02% | No predicted effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • angiogenesis (GO:0001525) |
| • negative regulation of cell proliferation (GO:0008285) |
Pathways
• Angiogenesis (Reactome: R-HSA-194315)
• VEGF signaling pathway (KEGG: hsa04370)
Protein Summary
The APOLD1 protein is a 237-amino acid protein containing an apolipoprotein L domain. It is localized to the cytoplasm and plasma membrane. The protein is involved in angiogenesis and endothelial cell function, regulating vascular permeability and cell proliferation. It is expressed in endothelial cells and has been implicated in cancer and cardiovascular diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOLD1 Knockout HEK293 Cell Line | EDJ-KQ8938 | Human | 81575 | Details Get a Quote |
| APOLD1 Knockout HCT 116 Cell Line | EDJ-KQ36523 | Human | 81575 | Details Get a Quote |
| APOLD1 Knockout HeLa Cell Line | EDJ-KQ36524 | Human | 81575 | Details Get a Quote |
| APOLD1 Knockout A-549 Cell Line | EDJ-KQ65903 | Human | 81575 | Details Get a Quote |
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