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Tbio
MALRD1
MAM and LDL-receptor class A domain-containing protein 1

Protein Summary
Description
Enhances production and/or transport of FGF19 and thus has a role in regulation of bile acid synthesis. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000454679
  • ENSP00000412763
  • ENSG00000204740

Symbol
  • C10orf112
  • DIET1
  • DIET1
  • C10orf112
  • bA265G8.2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
trait
0.99
tissue sample
0.84
tissue
0.68
disease
0.55
phenotype
0.54


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 16.98   (req: < 5)
Gene RIFs: 4   (req: <= 3)
Antibodies: 13   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 16.98   (req: >= 5)
Gene RIFs: 4   (req: > 3)
Antibodies: 13   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
3
2
8
92.3
systolic blood pressure
1
1
1
69.3
pulse pressure measurement
1
1
1
66
triglyceride measurement
2
1
2
24.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
8
92.3
systolic blood pressure
1
69.3
pulse pressure measurement
1
66
triglyceride measurement
2
24.5
Orthologs (3)
1 – 3 of 3
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
MAM and LDL receptor class A domain containing 1
VGNC:14331
100615209
Mouse
MGI:1928271
102635496
Opossum
MAM and LDL receptor class A domain containing 1
100618230
Species
Name
OMA
EggNOG
Inparanoid
Chimp
MAM and LDL receptor class A domain containing 1
Mouse
Opossum
MAM and LDL receptor class A domain containing 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q5VYJ5-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (5)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
HPA
Inferred from Electronic Annotation (IEA)
UniProtKB-SubCell
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (13)
1 – 10 of 13
FGF19
Tbio
Novelty:  0.00317427
Score:  0.534
Data Source:  STRINGDB
INS
Tbio
Novelty:  0.00000499
Score:  0.505
Data Source:  STRINGDB
CLMP
Tbio
Novelty:  0.01435374
Score:  0.495
Data Source:  STRINGDB
VPS33A
Tbio
Novelty:  0.08316241
Score:  0.489
Data Source:  STRINGDB
APOE
Tbio
Novelty:  0.00005049
Score:  0.469
Data Source:  STRINGDB
NR1H4
Tclin
Family:  NR
Novelty:  0.00067092
Score:  0.455
Data Source:  STRINGDB
NAALAD2
Tchem
Family:  Enzyme
Novelty:  0.18444329
Score:  0.453
Data Source:  STRINGDB
PGLS
Tbio
Family:  Enzyme
Novelty:  0.03252394
Score:  0.444
Data Source:  STRINGDB
SCARB2
Tbio
Novelty:  0.0044075
Score:  0.429
Data Source:  STRINGDB
CSPG5
Tbio
Novelty:  0.01629685
Score:  0.422
Data Source:  STRINGDB
Publication Statistics
PubMed Score  16.98

PubMed score by year
PubTator Score  59.9

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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