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

    Gene ID: 340895, updated on 3-Apr-2024

    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; AllianceGenome:HGNC:24331
    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]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Biased expression in small intestine (RPKM 12.3) and duodenum (RPKM 11.0) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MALRD1 in Genome Data Viewer
    Location:
    10p12.31
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (19046927..19734478)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (19065969..19752737)
    105.20220307 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 BRD4-independent group 4 enhancer GRCh37_chr10:19041189-19042388 Neighboring gene AIFM1 pseudogene 1 Neighboring gene MPRA-validated peak892 silencer Neighboring gene uncharacterized LOC107984180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:19382617-19383196 Neighboring gene ubiquitin conjugating enzyme E2 V2 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:19407977-19408618 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:19434186-19434381 Neighboring gene uncharacterized LOC105376441 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:19704817-19705566 Neighboring gene uncharacterized LOC102724082 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:19799178-19799745 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 20 Neighboring gene small nucleolar RNA U3 Neighboring gene RNA, 5S ribosomal pseudogene 303 Neighboring gene uncharacterized LOC101928834 Neighboring gene Sharpr-MPRA regulatory region 1632 Neighboring gene MPRA-validated peak895 silencer 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

    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
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasmic vesicle 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)

    NEW Try the new Transcript table

    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
      B7ZBP2, Q5VYJ5, R9WAE9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      19046927..19734478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519453.3XP_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
    2. XM_011519455.3XP_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_011519454.2XP_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
    4. XM_017016183.2XP_016871672.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X5

    5. XM_047425167.1XP_047281123.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X6

    6. XM_047425168.1XP_047281124.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X8

    7. XM_017016182.1XP_016871671.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X4

    8. XM_017016185.1XP_016871674.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      U5GXS0
    9. XM_017016184.1XP_016871673.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      U5GXS0
    10. XM_017016186.1XP_016871675.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      19065969..19752737
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365735.1XP_054221710.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X2

    2. XM_054365739.1XP_054221714.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X6

    3. XM_054365736.1XP_054221711.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X3

    4. XM_054365738.1XP_054221713.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X5

    5. XM_054365742.1XP_054221717.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X8

    6. XM_054365734.1XP_054221709.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X1

    7. XM_054365737.1XP_054221712.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X4

    8. XM_054365741.1XP_054221716.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X7

    9. XM_054365740.1XP_054221715.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X7

    10. XM_054365743.1XP_054221718.1  MAM and LDL-receptor class A domain-containing protein 1 isoform X9