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ASGR1 asialoglycoprotein receptor 1 [ Homo sapiens (human) ]

Gene ID: 432, updated on 22-Aug-2020

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
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
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (7173431..7179426, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available

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 PubChem

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 
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
 
viral process IEA
Inferred from Electronic Annotation
more info
 
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_001197216.3NP_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_001671.5NP_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, ENST00000269299.8
    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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    7173431..7179426 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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