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Aliases for ASGR1 Gene

Aliases for ASGR1 Gene

  • Asialoglycoprotein Receptor 1 2 3 3 5
  • C-Type Lectin Domain Family 4 Member H1 3 4
  • Hepatic Lectin H1 3 4
  • CLEC4H1 3 4
  • HL-1 3 4
  • ASGP-R 1 4
  • ASGPR 1 4
  • ASGPR1 3
  • ASGPR 3

External Ids for ASGR1 Gene

Previous GeneCards Identifiers for ASGR1 Gene

  • GC17M007468
  • GC17P007746
  • GC17M007020
  • GC17M007277
  • GC17M007017
  • GC17M006970

Summaries for ASGR1 Gene

Entrez Gene Summary for ASGR1 Gene

  • 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]

GeneCards Summary for ASGR1 Gene

ASGR1 (Asialoglycoprotein Receptor 1) is a Protein Coding gene. Diseases associated with ASGR1 include Amelogenesis Imperfecta, Type Ie and Amelogenesis Imperfecta, Type Ib. Among its related pathways are Metabolism of proteins and Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and asialoglycoprotein receptor activity. An important paralog of this gene is ASGR2.

UniProtKB/Swiss-Prot for ASGR1 Gene

  • Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface.

Additional gene information for ASGR1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASGR1 Gene

Genomics for ASGR1 Gene

GeneHancer (GH) Regulatory Elements for ASGR1 Gene

Promoters and enhancers for ASGR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J007177 Promoter/Enhancer 1.4 Ensembl ENCODE 650.7 +1.7 1715 1.7 ATF1 ARID4B SIN3A DMAP1 YY1 GLIS2 ZNF143 ATF7 SP3 RXRA ASGR1 GC17P007176 ENSG00000262067 LOC105371508 SPEM1 SLC16A11 ACADVL DLG4 SLC16A13 CTDNEP1
GH17J007179 Promoter 1 EPDnew 650.7 +0.2 174 0.1 DRAP1 MXI1 FOXA2 TAF1 SAP130 KAT7 DMAP1 ETS1 YY1 ZFHX2 ASGR1 EIF4A1 SNORD10 SNORA48 PER1 KDM6B PLSCR3 POLR2A C17orf49 TP53
GH17J006710 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 29.6 +467.0 467044 3.8 FOXA2 ARID4B YBX1 ZNF48 YY1 TCF12 SLC30A9 GLIS2 ZNF207 ATF7 SLC13A5 ASGR1 ASGR2 WRAP53 DVL2 GPS2 SNORD10 LOC100996842 SNORA48 SLC16A13
GH17J007130 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +47.4 47352 4 HDGF PKNOX1 FOXA2 SMAD1 ARID4B IRF4 ZNF143 ZNF207 ATF7 RUNX3 LOC105371512 DVL2 CLEC10A SLC16A11 ASGR1 BCL6B CNTROB KCTD11 SNORD10 EIF5A
GH17J007141 Enhancer 0.6 ENCODE 11.3 +37.7 37685 1.3 SMARCE1 PKNOX1 GATAD2B DPF2 ZNF507 ZNF217 CTBP1 GATA3 CUX1 TCF7L2 RPL7AP64 GC17M007141 ASGR2 SLC16A11 ASGR1 DVL2 PHF23 GABARAP ENSG00000202251 CLDN7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASGR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASGR1 gene promoter:

Genomic Locations for ASGR1 Gene

Genomic Locations for ASGR1 Gene
chr17:7,173,431-7,179,564
(GRCh38/hg38)
Size:
6,134 bases
Orientation:
Minus strand
chr17:7,076,750-7,082,883
(GRCh37/hg19)

Genomic View for ASGR1 Gene

Genes around ASGR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASGR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASGR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASGR1 Gene

Proteins for ASGR1 Gene

  • Protein details for ASGR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07306-ASGR1_HUMAN
    Recommended name:
    Asialoglycoprotein receptor 1
    Protein Accession:
    P07306
    Secondary Accessions:
    • I3L1X1

    Protein attributes for ASGR1 Gene

    Size:
    291 amino acids
    Molecular mass:
    33186 Da
    Quaternary structure:
    • Interacts with LASS2.
    Miscellaneous:
    • Calcium is required for ligand binding.

    Three dimensional structures from OCA and Proteopedia for ASGR1 Gene

    Alternative splice isoforms for ASGR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASGR1 Gene

Post-translational modifications for ASGR1 Gene

No data available for DME Specific Peptides for ASGR1 Gene

Domains & Families for ASGR1 Gene

Gene Families for ASGR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ASGR1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ASGR1: view

No data available for UniProtKB/Swiss-Prot for ASGR1 Gene

Function for ASGR1 Gene

Molecular function for ASGR1 Gene

UniProtKB/Swiss-Prot Function:
Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface.
GENATLAS Biochemistry:
asialoglycoprotein receptor 1

Phenotypes From GWAS Catalog for ASGR1 Gene

Gene Ontology (GO) - Molecular Function for ASGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004873 asialoglycoprotein receptor activity IEA --
GO:0005515 protein binding IPI 11543633
GO:0030246 carbohydrate binding IEA --
GO:0042803 protein homodimerization activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ASGR1: view
genes like me logo Genes that share phenotypes with ASGR1: view

Animal Models for ASGR1 Gene

MGI Knock Outs for ASGR1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASGR1 Gene

Localization for ASGR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASGR1 Gene

Isoform H1a: Membrane; Single-pass type II membrane protein.
Isoform H1b: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASGR1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytosol 2
lysosome 2
endosome 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10734069
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASGR1: view

Pathways & Interactions for ASGR1 Gene

genes like me logo Genes that share pathways with ASGR1: view

Pathways by source for ASGR1 Gene

Gene Ontology (GO) - Biological Process for ASGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis TAS 8439566
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0031668 cellular response to extracellular stimulus IEA --
genes like me logo Genes that share ontologies with ASGR1: view

No data available for SIGNOR curated interactions for ASGR1 Gene

Drugs & Compounds for ASGR1 Gene

(2) Drugs for ASGR1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with ASGR1: view

Transcripts for ASGR1 Gene

mRNA/cDNA for ASGR1 Gene

Unigene Clusters for ASGR1 Gene

Asialoglycoprotein receptor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASGR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10
SP1: - - -
SP2: - -
SP3: - - - -
SP4: - - - - -
SP5:
SP6: -

Relevant External Links for ASGR1 Gene

GeneLoc Exon Structure for
ASGR1
ECgene alternative splicing isoforms for
ASGR1

Expression for ASGR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASGR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASGR1 Gene

This gene is overexpressed in Liver (x45.7).

Protein differential expression in normal tissues from HIPED for ASGR1 Gene

This gene is overexpressed in Liver (30.0), Fetal Liver (22.6), and Gallbladder (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASGR1 Gene



Protein tissue co-expression partners for ASGR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASGR1 Gene:

ASGR1

SOURCE GeneReport for Unigene cluster for ASGR1 Gene:

Hs.12056

mRNA Expression by UniProt/SwissProt for ASGR1 Gene:

P07306-ASGR1_HUMAN
Tissue specificity: Expressed exclusively in hepatic parenchymal cells.

Evidence on tissue expression from TISSUES for ASGR1 Gene

  • Liver(4.8)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with ASGR1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ASGR1 Gene

Orthologs for ASGR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASGR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASGR1 34 33
  • 99.87 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASGR1 33
  • 85.92 (n)
-- 34
  • 26 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia ASGR1 34 33
  • 84.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Asgr1 16 34 33
  • 81.81 (n)
rat
(Rattus norvegicus)
Mammalia Asgr1 33
  • 81.69 (n)
oppossum
(Monodelphis domestica)
Mammalia ASGR1 34
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 39 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-283g2.2 34
  • 30 (a)
ManyToMany
si:ch73-361h17.1 34
  • 27 (a)
ManyToMany
si:ch211-283g2.3 34
  • 22 (a)
ManyToMany
Species where no ortholog for ASGR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASGR1 Gene

ENSEMBL:
Gene Tree for ASGR1 (if available)
TreeFam:
Gene Tree for ASGR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASGR1: view image

Paralogs for ASGR1 Gene

(15) SIMAP similar genes for ASGR1 Gene using alignment to 7 proteins:

  • ASGR1_HUMAN
  • I3L129_HUMAN
  • I3L1F8_HUMAN
  • I3L2S9_HUMAN
  • J3QSZ2_HUMAN
  • K7EPS5_HUMAN
  • Q6FGQ5_HUMAN
genes like me logo Genes that share paralogs with ASGR1: view

Variants for ASGR1 Gene

Sequence variations from dbSNP and Humsavar for ASGR1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000115251 -- 7,175,200(-) ACACACA/ACA intron_variant
rs1000261475 -- 7,175,328(-) CAC/ intron_variant
rs1000993127 -- 7,177,537(-) C/G intron_variant
rs1001066674 -- 7,177,742(-) T/C intron_variant
rs1001329706 -- 7,179,309(-) G/A 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for ASGR1 Gene

Variant ID Type Subtype PubMed ID
dgv1683e59 CNV duplication 20981092
dgv1684e59 CNV duplication 20981092
esv2422288 CNV deletion 17116639
esv2665200 CNV deletion 23128226
esv28478 CNV loss 19812545
nsv1077836 CNV duplication 25765185
nsv1124750 CNV duplication 24896259
nsv457659 CNV loss 19166990
nsv574322 CNV loss 21841781
nsv952118 CNV deletion 24416366

Variation tolerance for ASGR1 Gene

Residual Variation Intolerance Score: 17.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASGR1 Gene

Human Gene Mutation Database (HGMD)
ASGR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASGR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASGR1 Gene

Disorders for ASGR1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ASGR1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ASGR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASGR1

genes like me logo Genes that share disorders with ASGR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASGR1 Gene

Publications for ASGR1 Gene

  1. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3 44 58
  2. A new splice variant of the major subunit of human asialoglycoprotein receptor encodes a secreted form in hepatocytes. (PMID: 20886072) Liu J … Yang D (PloS one 2010) 3 4 58
  3. Potentiation of proliferation of some but not all human colon carcinoma cell lines by immobilized hepatic asialoglycoprotein receptor 1. (PMID: 19725223) Fang J … Irimura T (Oncology research 2009) 3 22 58
  4. Antisense oligonucleotides targeted against asialoglycoprotein receptor 1 block human hepatitis B virus replication. (PMID: 16475991) Yang J … Wang SQ (Journal of viral hepatitis 2006) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ASGR1 Gene

Sources for ASGR1 Gene

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