ASGR1 asialoglycoprotein receptor 1 [Homo sapiens (human)] - Gene

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

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.
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.
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.
Novel SARS-CoV-2 receptors: ASGR1 and KREMEN1.
Title: Novel SARS-CoV-2 receptors: ASGR1 and KREMEN1.
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.
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.
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.
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.
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.
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 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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11640 (e-PCR)
- UniSTS:83984

D17S2010 (e-PCR)
- UniSTS:68829

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)

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
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

7173431..7179370 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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