MALRD1 Gene Summary [Human]

This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2017]

Details

Type
Protein Coding
Official Symbol
MALRD1
Official Name
MAM and LDL receptor class A domain containing 1 [Source:HGNC Symbol;Acc:HGNC:24331]
Ensembl ID
ENSG00000204740
Bio databases IDs NCBI: 340895 Ensembl: ENSG00000204740
Aliases MAM and LDL receptor class A domain containing 1
Synonyms bA265G8.2, C10orf112, DIET1, Gm13318, Gm13364, LOC100128641, LOC100652979, LOC100653216, LOC100912561, LOC101060163, LOC729195, MAM and LDL receptor class A domain containing 1, RGD1559888, RGD1563652
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MALRD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
  • Human growth factor-like EGF
  • LDLa
  • protein binding
  • MAM domain, meprin/A5/mu
  • EGF_CA

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • coronary artery disease
  • COVID-19
  • bile acid diarrhea
  • pneumonia
  • progression free survival
  • lung adenocarcinoma
  • lung adenocarcinoma formation
  • ankylosing spondylitis
  • obsessive-compulsive disorder
  • postmenopausal osteoporosis
regulates
  • cholesterol
  • bile acid
  • FGF19

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Golgi Apparatus

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MALRD1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of bile acid biosynthetic process
  • cholesterol homeostasis

Cellular Component

Where in the cell the gene product is active
  • cytoplasmic vesicle membrane
  • Golgi apparatus

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.