MALRD1: MAM and LDL-Receptor Class A Domain Containing 1
A comprehensive genomic and proteomic overview of MALRD1, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | MALRD1 |
|---|---|
| Full Name | MAM and LDL-Receptor Class A Domain Containing 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 10p12.31 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617194 |
| HGNC ID | 37263 |
| Aliases | MAMDC2, MAMDC2-like, FLJ46361 |
Description
MALRD1 (MAM and LDL-Receptor Class A Domain Containing 1) is a protein-coding gene located on chromosome 10p12.31. It encodes a protein containing MAM (meprin, A-5 protein, and receptor protein-tyrosine phosphatase mu) domains and LDL-receptor class A domains, suggesting roles in cell adhesion, signaling, and lipid metabolism. Expression data indicate tissue-specific patterns, and mutations have been reported in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression and somatic mutations may contribute to tumor progression via disrupted cell adhesion and signaling pathways. | COSMIC, ClinVar |
| Lung adenocarcinoma | MALRD1 mutations (e.g., missense) observed in tumor samples; potential tumor suppressor role. | COSMIC |
| Breast cancer | Somatic mutations and copy number alterations reported; functional impact under investigation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.8 | Low |
| Kidney | 0.5 | Low |
| Testis | 0.3 | Low |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low expression |
| HeLa | 0.1 | Not detected |
| HepG2 | 0.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown; predicted benign by in silico tools |
| c.567C>T (p.Pro189Leu) | Missense | <0.1% | Unknown; reported in COSMIC for colorectal cancer |
| c.890_891insA | Frameshift | <0.1% | Likely loss-of-function; observed in lung adenocarcinoma |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.890_891insA) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region | • protein binding |
| • cell adhesion | • signaling receptor binding |
Pathways
• Integrin signaling pathway (Reactome)
• Cell adhesion molecules (KEGG)
Protein Summary
The MALRD1 protein (UniProt A6NKD9) contains MAM and LDL-receptor class A domains, indicative of roles in cell-cell interaction and receptor-mediated processes. It is predicted to be secreted or membrane-associated, with low expression in normal tissues and altered expression in certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MALRD1 Knockout HEK293 Cell Line | EDJ-KQ14184 | Human | 340895 | Details Get a Quote |
| MALRD1 Knockout HeLa Cell Line | EDJ-KQ59696 | Human | 340895 | Details Get a Quote |
| MALRD1 Knockout A-549 Cell Line | EDJ-KQ68168 | Human | 340895 | Details Get a Quote |
| MALRD1 Knockout HCT 116 Cell Line | EDJ-KQ76544 | Human | 340895 | Details Get a Quote |
