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ASGR1 asialoglycoprotein receptor 1 [ Homo sapiens (human) ]

Gene ID: 432, updated on 17-Mar-2024

Summary

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Official Symbol
ASGR1provided by HGNC
Official Full Name
asialoglycoprotein receptor 1provided by HGNC
Primary source
HGNC:HGNC:742
See related
Ensembl:ENSG00000141505 MIM:108360; AllianceGenome:HGNC:742
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
HL-1; ASGPR; ASGPR1; CLEC4H1
Summary
This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Expression
Biased expression in liver (RPKM 145.0) and testis (RPKM 4.7) See more
Orthologs
all
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Genomic context

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See ASGR1 in Genome Data Viewer
Location:
17p13.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7173431..7179370, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7074344..7080281, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7076750..7082689, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903910 Neighboring gene ribosomal protein L7a pseudogene 64 Neighboring gene Sharpr-MPRA regulatory region 10830 Neighboring gene uncharacterized LOC124903911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7077401-7078117 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7089971-7090140 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:7099412-7100611 Neighboring gene discs large MAGUK scaffold protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7114348-7114862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7114863-7115377 Neighboring gene Sharpr-MPRA regulatory region 12633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7118298-7119276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7123549-7124156 Neighboring gene acyl-CoA dehydrogenase very long chain Neighboring gene microRNA 324

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Deficiency of ASGR1 in pigs recapitulates reduced risk factor for cardiovascular disease in humans. Xie B, et al. PLoS Genet, 2021 Nov. PMID 34762653, Free PMC Article
  2. The Asialoglycoprotein Receptor Minor Subunit Gene Contributes to Pharmacokinetics of Factor VIII Concentrates in Hemophilia A. Lunghi B, et al. Thromb Haemost, 2022 May. PMID 34407556
  3. Common gene variants in ASGR1 gene locus associate with reduced cardiovascular risk in absence of pleiotropic effects. Ali L, et al. Atherosclerosis, 2020 Aug. PMID 32679274
  4. ASGR1 but not FOXM1 expression decreases in the peripheral blood mononuclear cells of diabetic atherosclerotic patients. Hamledari H, et al. J Diabetes Complications, 2019 Aug. PMID 31202960
  5. Generation of an ASGR1 homozygous mutant human embryonic stem cell line WAe001-A-6 using CRISPR/Cas9. Xu Y, et al. Stem Cell Res, 2017 Jul. PMID 28952928

See all (76) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deficiency of ASGR1 promotes liver injury by increasing GP73-mediated hepatic endoplasmic reticulum stress.
    Title: Deficiency of ASGR1 promotes liver injury by increasing GP73-mediated hepatic endoplasmic reticulum stress.
  2. Asialoglycoprotein receptor 1 promotes SARS-CoV-2 infection of human normal hepatocytes.
    Title: Asialoglycoprotein receptor 1 promotes SARS-CoV-2 infection of human normal hepatocytes.
  3. The Asialoglycoprotein Receptor Minor Subunit Gene Contributes to Pharmacokinetics of Factor VIII Concentrates in Hemophilia A.
    Title: The Asialoglycoprotein Receptor Minor Subunit Gene Contributes to Pharmacokinetics of Factor VIII Concentrates in Hemophilia A.
  4. Novel SARS-CoV-2 receptors: ASGR1 and KREMEN1.
    Title: Novel SARS-CoV-2 receptors: ASGR1 and KREMEN1.
  5. Receptome profiling identifies KREMEN1 and ASGR1 as alternative functional receptors of SARS-CoV-2.
    Title: Receptome profiling identifies KREMEN1 and ASGR1 as alternative functional receptors of SARS-CoV-2.
  6. Deficiency of ASGR1 in pigs recapitulates reduced risk factor for cardiovascular disease in humans.
    Title: Deficiency of ASGR1 in pigs recapitulates reduced risk factor for cardiovascular disease in humans.
  7. Common gene variants in ASGR1 gene locus associate with reduced cardiovascular risk in absence of pleiotropic effects.
    Title: Common gene variants in ASGR1 gene locus associate with reduced cardiovascular risk in absence of pleiotropic effects.
  8. ASGR1 but not FOXM1 expression decreases in the peripheral blood mononuclear cells of diabetic atherosclerotic patients.
    Title: ASGR1 but not FOXM1 expression decreases in the peripheral blood mononuclear cells of diabetic atherosclerotic patients.
  9. Our findings suggest that Clec10a in mice and Asgr1 in humans play an important role in skin homeostasis against inflammation associated with house dust mite-induced dermatitis.
    Title: Clec10a regulates mite-induced dermatitis.
  10. Authors report the generation of a human embryonic stem cell line WAe001-A-6 harbouring homozygous ASGR1 mutations using CRISPR/Cas9. The mutation involves a 37bp deletion, resulting in a frame shift.
    Title: Generation of an ASGR1 homozygous mutant human embryonic stem cell line WAe001-A-6 using CRISPR/Cas9.
Submit: New GeneRIF Correction See all GeneRIFs (33)

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 identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of asialoglycoprotein receptor 1 (ASGR1) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables asialoglycoprotein receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables fucose binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables mannose binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological process involved in interspecies interaction between organisms IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to extracellular stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in receptor-mediated endocytosis TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
asialoglycoprotein receptor 1
Names
C-type lectin domain family 4 member H1
hepatic lectin H1

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)

  1. NM_001197216.3 → NP_001184145.1  asialoglycoprotein receptor 1 isoform b

    See identical proteins and their annotated locations for NP_001184145.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as H1b, lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    BC032130, BQ653541, FJ410292
    Consensus CDS
    CCDS56017.1
    UniProtKB/Swiss-Prot
    P07306
    Related
    ENSP00000481182.1, ENST00000619926.4
    Conserved Domains (2) summary
    cd03590
    Location:115 → 240
    CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)
    pfam03954
    Location:23 → 105
    Lectin_N; Hepatic lectin, N-terminal domain

  2. NM_001671.5 → NP_001662.1  asialoglycoprotein receptor 1 isoform a

    See identical proteins and their annotated locations for NP_001662.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as H1a, represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC032130, BQ653541
    Consensus CDS
    CCDS11089.1
    UniProtKB/Swiss-Prot
    I3L1X1, P07306
    UniProtKB/TrEMBL
    Q6FGQ5
    Related
    ENSP00000269299.3, ENST00000269299.8
    Conserved Domains (2) summary
    cd03590
    Location:154 → 279
    CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)
    pfam03954
    Location:17 → 144
    Lectin_N; Hepatic lectin, N-terminal domain

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    7173431..7179370 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523861.3 → XP_011522163.1  asialoglycoprotein receptor 1 isoform X1

    See identical proteins and their annotated locations for XP_011522163.1

    UniProtKB/Swiss-Prot
    I3L1X1, P07306
    UniProtKB/TrEMBL
    Q6FGQ5
    Conserved Domains (2) summary
    cd03590
    Location:154 → 279
    CLECT_DC-SIGN_like; C-type lectin-like domain (CTLD) of the type found in human dendritic cell (DC)-specific intercellular adhesion molecule 3-grabbing non-integrin (DC-SIGN) and the related receptor, DC-SIGN receptor (DC-SIGNR)
    pfam03954
    Location:17 → 144
    Lectin_N; Hepatic lectin, N-terminal domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    7074344..7080281 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316159.1 → XP_054172134.1  asialoglycoprotein receptor 1 isoform X1

    UniProtKB/Swiss-Prot
    I3L1X1, P07306
    UniProtKB/TrEMBL
    Q6FGQ5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P07306.2 GenPept UniProtKB/Swiss-Prot:P07306

Gene LinkOut

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