GRAMD1A
GRAM domain containing 1A
Gene Information Card
| Symbol | GRAMD1A |
|---|---|
| Full Name | GRAM domain containing 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 57655 ncbi.nlm.nih.gov/gene/57655 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q96CP6 |
| OMIM ID | 616551 |
| HGNC ID | 25996 |
| Aliases | GRAM domain-containing protein 1A, FLJ20297, MGC131895 |
Description
GRAMD1A encodes a protein containing a GRAM domain, which is involved in lipid binding and membrane dynamics. The protein is implicated in sterol transport and cholesterol homeostasis, particularly in the endoplasmic reticulum-plasma membrane contact sites. It is widely expressed in various tissues and may play a role in cellular lipid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 8.2 | Medium |
| Brain | 6.5 | Low |
| Liver | 12.3 | Medium |
| Lung | 7.1 | Low |
| Heart | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| HepG2 | 14.2 | High expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | missense | 0.001% (gnomAD) | Unknown functional effect |
| c.567delA (p.Glu189fs) | frameshift | 0.0005% (gnomAD) | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu189fs) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
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)
| • phospholipid binding (GO:0005548) | • cholesterol transport (GO:0030301) |
| • endoplasmic reticulum (GO:0005783) | • plasma membrane (GO:0005886) |
Pathways
• Sterol regulatory element-binding protein (SREBP) signaling
• Cholesterol metabolism
Protein Summary
The GRAMD1A protein (UniProt Q96CP6) is a 738-amino acid protein with a GRAM domain that binds phospholipids and mediates sterol transport at membrane contact sites. It localizes to the endoplasmic reticulum and plasma membrane, facilitating cholesterol transfer. The protein is expressed in multiple tissues, with highest levels in liver and adipose tissue.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRAMD1A Knockout HEK293 Cell Line | EDJ-KQ13675 | Human | 57655 | Details Get a Quote |
| GRAMD1A Knockout HCT 116 Cell Line | EDJ-KQ42123 | Human | 57655 | Details Get a Quote |
| GRAMD1A Knockout A-549 Cell Line | EDJ-KQ43370 | Human | 57655 | Details Get a Quote |
| GRAMD1A Knockout HeLa Cell Line | EDJ-KQ43371 | Human | 57655 | Details Get a Quote |
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