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

Summary

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, Apr 2022]
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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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)

QTL (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in 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)

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