MRC1

mannose receptor C-type 1, the group of CD molecules|Scavenger receptors|MicroRNA protein coding host genes|C-type lectin domain containing

Basic information

Region (hg38): 10:17809348-17911164

Previous symbols: [ "MRC1L1" ]

Links

ENSG00000260314NCBI:4360OMIM:153618HGNC:7228Uniprot:P22897AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MRC1 gene.

  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002438.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
missense
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 0 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: Mediates the endocytosis of glycoproteins by macrophages. Binds both sulfated and non-sulfated polysaccharide chains.; FUNCTION: (Microbial infection) Acts as a receptor for Dengue virus envelope protein E. {ECO:0000269|PubMed:18266465}.;
Pathway
Phagosome - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Immune System;Adaptive Immune System;Antigen processing-Cross presentation;Class I MHC mediated antigen processing & presentation;Cross-presentation of soluble exogenous antigens (endosomes) (Consensus)

Recessive Scores

pRec
0.210

Haploinsufficiency Scores

pHI
0.198
hipred
N
hipred_score
0.431
ghis
0.394

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.262

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mrc1
Phenotype
hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; immune system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
receptor-mediated endocytosis;viral entry into host cell;cellular response to lipopolysaccharide;cellular response to interferon-gamma;cellular response to interleukin-4
Cellular component
plasma membrane;integral component of plasma membrane;cell surface;endosome membrane
Molecular function
virus receptor activity;transmembrane signaling receptor activity;protein binding;mannose binding;cargo receptor activity