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

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical variability and probable founder effect in oculocutaneous albinism type 7.
Title: Clinical variability and probable founder effect in oculocutaneous albinism type 7.
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.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: D10S1423 identifies a susceptibility locus for Alzheimer's disease (AD7) in a prospective, longitudinal, double-blind study of asymptomatic individuals: results at 14 years.
Expression of these C10orf112 mRNA species was limited to a subset of brain regions and heart tissue
Title: Predicted gene sequence C10orf112 is transcribed, exhibits tissue-specific expression, and may correspond to AD7.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

SHGC-68251 (e-PCR)
- UniSTS:100612

ECD22897 (e-PCR)
- UniSTS:303882

SHGC-147985 (e-PCR)
- UniSTS:176141

SHGC-143838 (e-PCR)
- UniSTS:172062

D10S2474 (e-PCR)
- UniSTS:66088

G63642 (e-PCR)
- UniSTS:140604

D10S1574 (e-PCR)
- UniSTS:58447

SHGC-142269 (e-PCR)
- UniSTS:171356

SHGC-142311 (e-PCR)
- UniSTS:171382

G15902 (e-PCR)
- UniSTS:4216

D10S466 (e-PCR), detects polymorphism
- UniSTS:148092

D10S2336 (e-PCR)
- UniSTS:79488

SHGC-82987 (e-PCR)
- UniSTS:101271

D10S1125 (e-PCR)
- UniSTS:473265

SHGC-142420 (e-PCR)
- UniSTS:171447

G10494 (e-PCR)
- UniSTS:79807

RH92837 (e-PCR)
- UniSTS:86467

D10S518 (e-PCR), detects polymorphism
- UniSTS:46817

SHGC-132236 (e-PCR)
- UniSTS:170723

D10S1423 (e-PCR), detects polymorphism
- UniSTS:52709

G63429 (e-PCR)
- UniSTS:140541

G17464 (e-PCR)
- UniSTS:62719

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

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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)

NM_001142308.3 → NP_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:865 → 1021

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:1263 → 1295

LDLa; Low-density lipoprotein receptor domain class A

cd00054
Location:2024 → 2056

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:1050 → 1085

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:865 → 1024

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

19046927..19734478

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011519453.3 → XP_011517755.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X1

Conserved Domains (5) summary

cd06263
Location:885 → 1041

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:1283 → 1315

LDLa; Low-density lipoprotein receptor domain class A

cd00054
Location:2044 → 2076

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:1070 → 1105

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:885 → 1044

MAM; MAM domain, meprin/A5/mu
XM_011519455.3 → XP_011517757.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X3

Conserved Domains (5) summary

cd06263
Location:827 → 983

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:1225 → 1257

LDLa; Low-density lipoprotein receptor domain class A

cd00054
Location:1986 → 2018

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:1012 → 1047

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:827 → 986

MAM; MAM domain, meprin/A5/mu
XM_011519454.2 → XP_011517756.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X2

Conserved Domains (5) summary

cd06263
Location:858 → 1014

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:1256 → 1288

LDLa; Low-density lipoprotein receptor domain class A

cd00054
Location:2017 → 2049

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:1043 → 1078

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:858 → 1017

MAM; MAM domain, meprin/A5/mu
XM_017016183.2 → XP_016871672.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X5
XM_047425167.1 → XP_047281123.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X6
XM_047425168.1 → XP_047281124.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X8
XM_017016182.1 → XP_016871671.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X4
XM_017016185.1 → XP_016871674.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X7

UniProtKB/TrEMBL

U5GXS0
XM_017016184.1 → XP_016871673.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X7

UniProtKB/TrEMBL

U5GXS0
XM_017016186.1 → XP_016871675.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X9

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

19065969..19752737

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054365735.1 → XP_054221710.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X2
XM_054365739.1 → XP_054221714.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X6
XM_054365736.1 → XP_054221711.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X3
XM_054365738.1 → XP_054221713.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X5
XM_054365742.1 → XP_054221717.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X8
XM_054365734.1 → XP_054221709.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X1
XM_054365737.1 → XP_054221712.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X4
XM_054365741.1 → XP_054221716.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X7
XM_054365740.1 → XP_054221715.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X7
XM_054365743.1 → XP_054221718.1 MAM and LDL-receptor class A domain-containing protein 1 isoform X9