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 show... See more...

Aliases for MALRD1 Gene

Aliases for MALRD1 Gene

  • MAM And LDL Receptor Class A Domain Containing 1 2 3 5
  • MAM And LDL-Receptor Class A Domain-Containing Protein 1 3 4
  • C10orf112 3 4
  • DIET1 3 4
  • MAM And LDL-Receptor Class A Domain-Containing Protein C10orf112 3
  • Chromosome 10 Open Reading Frame 112 2
  • Novel MAM Domain Containing Protein 3
  • BA265G8.2 3

External Ids for MALRD1 Gene

Previous HGNC Symbols for MALRD1 Gene

  • C10orf112

Previous GeneCards Identifiers for MALRD1 Gene

  • GC10P019492

Summaries for MALRD1 Gene

Entrez Gene Summary for MALRD1 Gene

  • 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]

GeneCards Summary for MALRD1 Gene

MALRD1 (MAM And LDL Receptor Class A Domain Containing 1) is a Protein Coding gene. Diseases associated with MALRD1 include Allergic Urticaria and Alzheimer Disease. An important paralog of this gene is MAMDC4.

UniProtKB/Swiss-Prot Summary for MALRD1 Gene

  • Enhances production and/or transport of FGF19 and thus has a role in regulation of bile acid synthesis.

Additional gene information for MALRD1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MALRD1 Gene

Genomics for MALRD1 Gene

GeneHancer (GH) Regulatory Elements for MALRD1 Gene

Promoters and enhancers for MALRD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J019046 Promoter/Enhancer 0.8 EPDnew Ensembl ENCODE 500.7 +1.9 1933 5.5 EP300 POLR2A L13714-029 MALRD1 UBE2V2P1 lnc-ARL5B-8
GH10J019488 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 19.5 +442.1 442106 1.1 CTCF HDAC2 GABPB1 RAD21 JUND NRF1 TAF1 EP300 TBP EGR1 HMGN1P20 NONHSAG005352.2 MALRD1 LOC102724082
GH10J019814 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.2 +770.8 770770 5.8 EP300 CTCF ZFX ZIC2 ZBTB26 SAP30 RAD21 TRIM22 SMC3 HDAC2 ENSG00000285852 PLXDC2 ENSG00000233968 MALRD1 RF00017-608
GH10J019774 Enhancer 0.7 FANTOM5 Ensembl ENCODE 18.1 +728.0 727970 4.2 NFE2 POLR2A PLXDC2 MALRD1 ENSG00000233968 ENSG00000200545 lnc-NEBL-3 RNU6-1212P
GH10J019674 Enhancer 0.4 Ensembl 18.3 +628.2 628170 2.2 RAD51 GATA3 FOXA1 MITF USF2 MALRD1 ENSG00000233968 RNU6-1212P RF00001-039 RNA5SP303 LOC101928834
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MALRD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MALRD1

Genomic Locations for MALRD1 Gene

Genomic Locations for MALRD1 Gene
743,471 bases
Plus strand
586,552 bases
Plus strand

Genomic View for MALRD1 Gene

Genes around MALRD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MALRD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MALRD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MALRD1 Gene

Proteins for MALRD1 Gene

  • Protein details for MALRD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    MAM and LDL-receptor class A domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B7ZBP2
    • R9WAE9

    Protein attributes for MALRD1 Gene

    2156 amino acids
    Molecular mass:
    241008 Da
    Quaternary structure:
    • Interacts with FGF19.

neXtProt entry for MALRD1 Gene

Post-translational modifications for MALRD1 Gene

  • Glycosylation at Asn813, Asn1049, Asn1199, and Asn1414
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MALRD1 Gene

Domains & Families for MALRD1 Gene

Gene Families for MALRD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for MALRD1 Gene

GenScript: Design optimal peptide antigens:
  • MAM and LDL-receptor class A domain-containing protein C10orf112 (CJ112_HUMAN)
genes like me logo Genes that share domains with MALRD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MALRD1 Gene

Function for MALRD1 Gene

Molecular function for MALRD1 Gene

UniProtKB/Swiss-Prot Function:
Enhances production and/or transport of FGF19 and thus has a role in regulation of bile acid synthesis.

Phenotypes From GWAS Catalog for MALRD1 Gene

genes like me logo Genes that share phenotypes with MALRD1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MALRD1 Gene

Localization for MALRD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MALRD1 Gene

Cytoplasmic vesicle membrane; Single-pass type I membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MALRD1 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 3
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MALRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
genes like me logo Genes that share ontologies with MALRD1: view

Pathways & Interactions for MALRD1 Gene

PathCards logo

SuperPathways for MALRD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MALRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042632 cholesterol homeostasis IEA --
GO:0070858 negative regulation of bile acid biosynthetic process IEA --
genes like me logo Genes that share ontologies with MALRD1: view

No data available for Pathways by source and SIGNOR curated interactions for MALRD1 Gene

Drugs & Compounds for MALRD1 Gene

No Compound Related Data Available

Transcripts for MALRD1 Gene

mRNA/cDNA for MALRD1 Gene

4 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for MALRD1 Gene

No ASD Table

Relevant External Links for MALRD1 Gene

GeneLoc Exon Structure for

Expression for MALRD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MALRD1 Gene

mRNA differential expression in normal tissues according to GTEx for MALRD1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x21.4).

Protein differential expression in normal tissues from HIPED for MALRD1 Gene

This gene is overexpressed in Cerebrospinal fluid (28.4), Fetal heart (16.6), Heart (13.2), and Pancreas (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MALRD1 Gene

Protein tissue co-expression partners for MALRD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MALRD1

mRNA Expression by UniProt/SwissProt for MALRD1 Gene:

Tissue specificity: Strongly expressed in the small intestine.
genes like me logo Genes that share expression patterns with MALRD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MALRD1 Gene

Orthologs for MALRD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MALRD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MALRD1 31
  • 97 (a)
(Mus musculus)
Mammalia LOC102635496 30
  • 78.72 (n)
Malrd1 17
(Rattus norvegicus)
Mammalia LOC100361092 30
  • 78.06 (n)
(Bos Taurus)
Mammalia MALRD1 31
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 18 (a)
(Gallus gallus)
Aves C10ORF112 30
  • 65.33 (n)
DIET1 31
  • 64 (a)
(Anolis carolinensis)
Reptilia MALRD1 31
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496835 30
  • 61.33 (n)
(Danio rerio)
Actinopterygii malrd1 30
  • 54.84 (n)
DIET1 31
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 16 (a)
Species where no ortholog for MALRD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MALRD1 Gene

Gene Tree for MALRD1 (if available)
Gene Tree for MALRD1 (if available)
Evolutionary constrained regions (ECRs) for MALRD1: view image

Paralogs for MALRD1 Gene

Paralogs for MALRD1 Gene

(3) SIMAP similar genes for MALRD1 Gene using alignment to 6 proteins:

  • H0Y3D6_HUMAN
genes like me logo Genes that share paralogs with MALRD1: view

Variants for MALRD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MALRD1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs10763975 - p.Val1602Ile
rs10827306 - p.Val1417Ala
rs10827628 - p.Ser1941Asn
rs12256835 - p.His1721Gln
rs12771333 - p.Glu1516Lys

Additional dbSNP identifiers (rs#s) for MALRD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MALRD1 Gene

Variant ID Type Subtype PubMed ID
dgv129n67 CNV loss 20364138
dgv130n67 CNV loss 20364138
dgv20e55 CNV loss 17911159
dgv371n106 CNV deletion 24896259
dgv372n106 CNV deletion 24896259
dgv373n106 CNV deletion 24896259
dgv374n106 CNV deletion 24896259
dgv375n106 CNV deletion 24896259
dgv682n100 CNV loss 25217958
dgv683n100 CNV loss 25217958
dgv684n100 CNV loss 25217958
dgv985n54 CNV loss 21841781
dgv986n54 CNV loss 21841781
dgv987n54 CNV loss 21841781
esv1010439 CNV deletion 20482838
esv1024628 CNV insertion 17803354
esv1227869 CNV insertion 17803354
esv2002737 CNV deletion 18987734
esv2030521 CNV deletion 18987734
esv2271246 CNV deletion 18987734
esv23531 CNV loss 19812545
esv2389515 CNV deletion 18987734
esv2421580 CNV deletion 20811451
esv2442048 CNV deletion 19546169
esv2455504 CNV deletion 19546169
esv2465653 CNV deletion 19546169
esv2492431 CNV deletion 19546169
esv2541786 CNV insertion 19546169
esv2657335 CNV deletion 23128226
esv2665204 CNV deletion 23128226
esv2671386 CNV deletion 23128226
esv2672950 CNV deletion 23128226
esv2677359 CNV deletion 23128226
esv2677618 CNV deletion 23128226
esv2678202 CNV deletion 23128226
esv2733794 CNV deletion 23290073
esv2733806 CNV deletion 23290073
esv2733817 CNV deletion 23290073
esv2733828 CNV deletion 23290073
esv2733839 CNV deletion 23290073
esv2733850 CNV deletion 23290073
esv2733861 CNV deletion 23290073
esv2733872 CNV deletion 23290073
esv2733883 CNV deletion 23290073
esv2733894 CNV deletion 23290073
esv2759737 CNV loss 17122850
esv29032 CNV loss 19812545
esv3303418 CNV mobile element insertion 20981092
esv3304978 CNV mobile element insertion 20981092
esv3308129 CNV mobile element insertion 20981092
esv3326156 CNV insertion 20981092
esv3327315 CNV insertion 20981092
esv3347345 CNV insertion 20981092
esv3372278 CNV insertion 20981092
esv3373138 CNV insertion 20981092
esv3391274 CNV insertion 20981092
esv3393546 CNV insertion 20981092
esv3428978 CNV insertion 20981092
esv34306 CNV loss 17911159
esv3545989 CNV deletion 23714750
esv3545990 CNV deletion 23714750
esv3545991 CNV deletion 23714750
esv3545993 CNV deletion 23714750
esv3545994 CNV deletion 23714750
esv3578704 CNV loss 25503493
esv3622525 CNV loss 21293372
esv3622526 CNV gain 21293372
esv3622528 CNV loss 21293372
esv3622529 CNV loss 21293372
esv3622531 CNV loss 21293372
esv3622533 CNV loss 21293372
esv3622534 CNV loss 21293372
esv3622536 CNV loss 21293372
esv3622537 CNV loss 21293372
esv3622539 CNV loss 21293372
esv3622540 CNV loss 21293372
esv3622541 CNV loss 21293372
esv3622542 CNV loss 21293372
esv3622544 CNV loss 21293372
esv3622545 CNV loss 21293372
esv3622546 CNV loss 21293372
esv3626 CNV loss 18987735
esv3891768 CNV loss 25118596
esv3891769 CNV loss 25118596
esv3891770 CNV loss 25118596
esv3891772 CNV loss 25118596
esv5484 CNV gain 19470904
esv8408 CNV loss 19470904
esv9019 CNV loss 19470904
nsv1039685 CNV gain 25217958
nsv1039794 CNV gain 25217958
nsv1040444 CNV gain 25217958
nsv1040613 CNV loss 25217958
nsv1046998 CNV loss 25217958
nsv1049295 CNV loss 25217958
nsv1068287 CNV deletion 25765185
nsv1068288 CNV deletion 25765185
nsv1068289 CNV deletion 25765185
nsv1068290 CNV deletion 25765185
nsv1068678 CNV deletion 25765185
nsv1073882 CNV deletion 25765185
nsv1074862 CNV deletion 25765185
nsv1122496 CNV deletion 24896259
nsv1127091 CNV deletion 24896259
nsv1137883 CNV deletion 24896259
nsv1140444 CNV tandem duplication 24896259
nsv1141168 CNV duplication 24896259
nsv1148584 CNV deletion 26484159
nsv24730 CNV deletion 16902084
nsv24740 CNV deletion 16902084
nsv433509 CNV loss 18776910
nsv466764 CNV gain 19166990
nsv466765 CNV loss 19166990
nsv466766 CNV loss 19166990
nsv478889 CNV novel sequence insertion 20440878
nsv516123 CNV loss 19592680
nsv523490 CNV loss 19592680
nsv528472 CNV gain 19592680
nsv550126 CNV gain 21841781
nsv550127 CNV loss 21841781
nsv550128 CNV gain 21841781
nsv550129 CNV loss 21841781
nsv550132 CNV gain 21841781
nsv550135 CNV loss 21841781
nsv550136 CNV loss 21841781
nsv550139 CNV gain 21841781
nsv550140 CNV loss 21841781
nsv6010 CNV deletion 18451855
nsv818750 CNV loss 17921354
nsv819054 CNV loss 19587683
nsv825263 CNV loss 20364138
nsv825264 CNV loss 20364138
nsv825266 CNV loss 20364138
nsv825267 CNV loss 20364138
nsv825274 CNV loss 20364138
nsv831802 CNV gain 17160897
nsv831804 CNV gain 17160897
nsv8605 CNV loss 18304495
nsv8606 CNV gain 18304495
nsv8607 CNV loss 18304495
nsv8608 CNV loss 18304495
nsv947753 CNV duplication 23825009
nsv947759 CNV duplication 23825009
nsv956180 CNV deletion 24416366
nsv957352 CNV deletion 24416366

Variation tolerance for MALRD1 Gene

Gene Damage Index Score: 20.82; 99.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MALRD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MALRD1 Gene

Disorders for MALRD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MALRD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
allergic urticaria
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MALRD1

genes like me logo Genes that share disorders with MALRD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MALRD1 Gene

Publications for MALRD1 Gene

  1. Diet1 functions in the FGF15/19 enterohepatic signaling axis to modulate bile acid and lipid levels. (PMID: 23747249) Vergnes L … Reue K (Cell metabolism 2013) 3 4 54
  2. Predicted gene sequence C10orf112 is transcribed, exhibits tissue-specific expression, and may correspond to AD7. (PMID: 19103277) Zubenko GS … Hughes HB (Genomics 2009) 2 3 54
  3. Diet1 is a regulator of fibroblast growth factor 15/19-dependent bile acid synthesis. (PMID: 26045262) Reue K … Vergnes L (Digestive diseases (Basel, Switzerland) 2015) 3 54
  4. Regulation of bile acid homeostasis by the intestinal Diet1-FGF15/19 axis. (PMID: 24535283) Reue K … Vergnes L (Current opinion in lipidology 2014) 3 54
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 54

Products for MALRD1 Gene

Sources for MALRD1 Gene