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    Malrd1 MAM and LDL receptor class A domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 102635496, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Malrd1provided by MGI
    Official Full Name
    MAM and LDL receptor class A domain containing 1provided by MGI
    Primary source
    MGI:MGI:1928271
    See related
    Ensembl:ENSMUSG00000075520 AllianceGenome:MGI:1928271
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Diet1; Gm13318; Gm13364
    Summary
    Acts upstream of or within cholesterol homeostasis and negative regulation of bile acid biosynthetic process. Located in cytoplasm. Is expressed in genitourinary system and small intestine. Orthologous to human MALRD1 (MAM and LDL receptor class A domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in large intestine adult (RPKM 7.3), small intestine adult (RPKM 1.5) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Malrd1 in Genome Data Viewer
    Location:
    2 5.8 cM; 2 A2
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (15531290..16260368)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (15526479..16255557)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_03744 Neighboring gene lactate dehydrogenase A pseudogene Neighboring gene predicted gene 13368 Neighboring gene STARR-seq mESC enhancer starr_03745 Neighboring gene predicted gene, 51433 Neighboring gene STARR-seq mESC enhancer starr_03746 Neighboring gene STARR-seq mESC enhancer starr_03747 Neighboring gene STARR-seq mESC enhancer starr_03748 Neighboring gene STARR-seq mESC enhancer starr_03749 Neighboring gene STARR-seq mESC enhancer starr_03750 Neighboring gene Hmgb1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_03751 Neighboring gene STARR-seq mESC enhancer starr_03754 Neighboring gene myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_03755 Neighboring gene plexin domain containing 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Diet1, bile acid diarrhea, and FGF15/19: mouse model and human genetic variants. Lee JM, et al. J Lipid Res, 2018 Mar. PMID 29295820, Free PMC Article
    2. Diet1 is a regulator of fibroblast growth factor 15/19-dependent bile acid synthesis. Reue K, et al. Dig Dis, 2015. PMID 26045262, Free PMC Article
    3. A locus conferring resistance to diet-induced hypercholesterolemia and atherosclerosis on mouse chromosome 2. Mouzeyan A, et al. J Lipid Res, 2000 Apr. PMID 10744778
    4. The Diet1 locus confers protection against hypercholesterolemia through enhanced bile acid metabolism. Phan J, et al. J Biol Chem, 2002 Jan 4. PMID 11682476
    5. Diet1 functions in the FGF15/19 enterohepatic signaling axis to modulate bile acid and lipid levels. Vergnes L, et al. Cell Metab, 2013 Jun 4. PMID 23747249, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. genetic variation in DIET1 may be a determinant of FGF19 secretion levels, and may affect bile acid metabolism in both physiological and pathological conditions
      Title: Diet1, bile acid diarrhea, and FGF15/19: mouse model and human genetic variants.
    2. Diet1-deficient mice exhibited an elevated bile acid pool size and impaired feedback regulation of hepatic Cyp7a1, which encodes the rate-limiting enzyme in bile acid synthesis.
      Title: Diet1 functions in the FGF15/19 enterohepatic signaling axis to modulate bile acid and lipid levels.
    3. Diet1 appears to be a control point for the production of fibroblast growth factor 15/19 in enterocytes, and thus a regulator of bile acid and lipid homeostasis.
      Title: Diet1 is a regulator of fibroblast growth factor 15/19-dependent bile acid synthesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Associated conditions

    Description Tests
    variability in response to cholestrol enriched atherogenic diet
    GeneReviews: Not available

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of bile acid biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of bile acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of protein secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    MAM and LDL-receptor class A domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001310455.1 → NP_001297384.1  MAM and LDL-receptor class A domain-containing protein 1 precursor

      See identical proteins and their annotated locations for NP_001297384.1

      Status: VALIDATED

      Source sequence(s)
      AL772224, KC836882
      Consensus CDS
      CCDS79736.1
      UniProtKB/Swiss-Prot
      A2AJX4, R9W764
      Related
      ENSMUSP00000116869.3, ENSMUST00000146205.3
      Conserved Domains (4) summary
      cd06263
      Location:831 → 987
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      smart00192
      Location:1229 → 1261
      LDLa; Low-density lipoprotein receptor domain class A
      cd00112
      Location:1449 → 1483
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00629
      Location:831 → 990
      MAM; MAM domain, meprin/A5/mu

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      15531290..16260368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2AJX4.2 GenPept UniProtKB/Swiss-Prot:A2AJX4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials