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    ASGR1 asialoglycoprotein receptor 1 [ Homo sapiens (human) ]

    Gene ID: 432, updated on 3-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7173431..7179370, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7074344..7080281, complement)
    RS_2024_09 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 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?
    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)

    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 D-mannose binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables pattern recognition receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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