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    ASGR1 asialoglycoprotein receptor 1 [ Homo sapiens (human) ]

    Gene ID: 432, updated on 5-Aug-2018

    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; Vega:OTTHUMG00000102159
    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]
    Expression
    Biased expression in liver (RPKM 145.0) and testis (RPKM 4.7) See more
    Orthologs

    Genomic context

    See ASGR1 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (7173431..7179564, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7076750..7082883, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371512 Neighboring gene ribosomal protein L7a pseudogene 64 Neighboring gene discs large MAGUK scaffold protein 4 Neighboring gene acyl-CoA dehydrogenase very long chain Neighboring gene microRNA 324

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    NHGRI GWA Catalog

    HIV-1 interactions

    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 BioSystems

    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
      Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
    • Thyroid hormone synthesis, conserved biosystem (from KEGG)
      Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    asialoglycoprotein receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular response to extracellular stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    protein N-linked glycosylation via asparagine TAS
    Traceable Author Statement
    more info
     
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001197216.2NP_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:115240
      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:23105
      Lectin_N; Hepatic lectin, N-terminal domain
    2. NM_001671.4NP_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
      P07306
      UniProtKB/TrEMBL
      Q6FGQ5
      Related
      ENSP00000269299.3, OTTHUMP00000128354, ENST00000269299.7, OTTHUMT00000220004
      Conserved Domains (2) summary
      cd03590
      Location:154279
      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:17144
      Lectin_N; Hepatic lectin, N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      7173431..7179564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523861.2XP_011522163.1  asialoglycoprotein receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_011522163.1

      UniProtKB/Swiss-Prot
      P07306
      UniProtKB/TrEMBL
      Q6FGQ5
      Conserved Domains (2) summary
      cd03590
      Location:154279
      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:17144
      Lectin_N; Hepatic lectin, N-terminal domain
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