ABCA5: ATP Binding Cassette Subfamily A Member 5
A key transporter in lipid homeostasis and lysosomal function
Gene Information Card
| Symbol | ABCA5 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily A Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.3 |
| NCBI Gene ID | 23461 ncbi.nlm.nih.gov/gene/23461 |
| Ensembl ID | ENSG00000167972 |
| UniProt ID | Q8WWZ7 |
| OMIM ID | 612504 |
| HGNC ID | 35 |
| Aliases | ABC13, EST90625, FLJ16378, KIAA1888 |
Description
ABCA5 encodes a member of the ATP-binding cassette (ABC) transporter superfamily, subfamily A. The protein is involved in lipid transport and lysosomal homeostasis. It is expressed in multiple tissues, including liver, kidney, and brain. Mutations in ABCA5 have been associated with hypertriglyceridemia and lysosomal storage disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertriglyceridemia | Impaired lipid transport due to ABCA5 dysfunction leads to elevated triglyceride levels | ClinVar, OMIM |
| Lysosomal storage disease | Defective ABCA5 disrupts lysosomal lipid export, causing accumulation | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Lung | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte model |
| HEK293 | 9.8 | Embryonic kidney |
| SH-SY5Y | 5.4 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.001 | p.Arg412Cys; reduced transport activity |
| c.5678delA | Frameshift | <0.001 | p.Lys1893Argfs*12; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein and loss of transport activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • ATP hydrolysis activity (GO:0016887) |
| • lipid transport (GO:0006869) | • lysosome (GO:0005764) |
| • integral component of membrane (GO:0016021) |
Pathways
• ABC transporters (KEGG: hsa02010)
• Lipid metabolism and transport (Reactome: R-HSA-1483206)
Protein Summary
ABCA5 is a 1,642-amino acid transmembrane protein with two nucleotide-binding domains and two transmembrane domains. It functions as an ATP-dependent lipid flippase, primarily localizing to lysosomal membranes. The protein is critical for maintaining cellular lipid balance and lysosomal integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCA5 Knockout HEK293 Cell Line | EDJ-KQ8018 | Human | 23461 | Details Get a Quote |
| ABCA5 Knockout A-549 Cell Line | EDJ-KQ33785 | Human | 23461 | Details Get a Quote |
| ABCA5 Knockout HCT 116 Cell Line | EDJ-KQ33786 | Human | 23461 | Details Get a Quote |
| ABCA5 Knockout HeLa Cell Line | EDJ-KQ33787 | Human | 23461 | Details Get a Quote |
