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MALRD1 MAM and LDL receptor class A domain containing 1 [ Homo sapiens (human) ]

Gene ID: 340895, updated on 5-Jan-2022

Summary

Official Symbol
MALRD1provided by HGNC
Official Full Name
MAM and LDL receptor class A domain containing 1provided by HGNC
Primary source
HGNC:HGNC:24331
See related
Ensembl:ENSG00000204740 MIM:617715
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DIET1; C10orf112; bA265G8.2
Summary
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]
Expression
Biased expression in small intestine (RPKM 12.3) and duodenum (RPKM 11.0) See more
Orthologs
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Genomic context

See MALRD1 in Genome Data Viewer
Location:
10p12.31
Exon count:
46
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (19046931..19734478)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (19337730..20023407)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376440 Neighboring gene AIFM1 pseudogene 1 Neighboring gene uncharacterized LOC107984180 Neighboring gene ubiquitin conjugating enzyme E2 V2 pseudogene 1 Neighboring gene uncharacterized LOC105376441 Neighboring gene uncharacterized LOC102724082 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 20 Neighboring gene RNA, 5S ribosomal pseudogene 303 Neighboring gene uncharacterized LOC101928834 Neighboring gene nuclear-encoded mitochondrial tRNA-Gln (CTG) 1-1 Neighboring gene MT-ND1 pseudogene 37

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

General gene information

Markers

Homology

Clone Names

  • FLJ60310

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cholesterol homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of bile acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
MAM and LDL-receptor class A domain-containing protein 1
Names
MAM and LDL-receptor class A domain-containing protein C10orf112
novel MAM domain containing protein

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_001142308.3NP_001135780.2  MAM and LDL-receptor class A domain-containing protein 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL157895, AL354695, AL391992, AL589943, AL590378, KC843478
    Consensus CDS
    CCDS73071.1
    UniProtKB/Swiss-Prot
    Q5VYJ5
    Related
    ENSP00000412763.3, ENST00000454679.7
    Conserved Domains (5) summary
    cd06263
    Location:8651021
    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:12631295
    LDLa; Low-density lipoprotein receptor domain class A
    cd00054
    Location:20242056
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00112
    Location:10501085
    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:8651024
    MAM; MAM domain, meprin/A5/mu

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    19046931..19734478
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519454.1XP_011517756.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X2

    Conserved Domains (5) summary
    cd06263
    Location:8581014
    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:12561288
    LDLa; Low-density lipoprotein receptor domain class A
    cd00054
    Location:20172049
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00112
    Location:10431078
    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:8581017
    MAM; MAM domain, meprin/A5/mu
  2. XM_011519455.2XP_011517757.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X3

    Conserved Domains (5) summary
    cd06263
    Location:827983
    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:12251257
    LDLa; Low-density lipoprotein receptor domain class A
    cd00054
    Location:19862018
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00112
    Location:10121047
    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:827986
    MAM; MAM domain, meprin/A5/mu
  3. XM_017016183.1XP_016871672.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X5

  4. XM_011519453.2XP_011517755.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X1

    Conserved Domains (5) summary
    cd06263
    Location:8851041
    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:12831315
    LDLa; Low-density lipoprotein receptor domain class A
    cd00054
    Location:20442076
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00112
    Location:10701105
    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:8851044
    MAM; MAM domain, meprin/A5/mu
  5. XM_017016182.1XP_016871671.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X4

  6. XM_017016185.1XP_016871674.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X6

  7. XM_017016184.1XP_016871673.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X6

  8. XM_017016186.1XP_016871675.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X7

RNA

  1. XR_001747102.1 RNA Sequence

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