• Gene id: 432

Gene Summary

• Gene Symbol: ASGR1   Gene   UCSC   Ensembl
• Aliases: ASGPR, ASGPR1, CLEC4H1, HL-1
• Gene name: asialoglycoprotein receptor 1
• Alternate names: asialoglycoprotein receptor 1, C-type lectin domain family 4 member H1, hepatic lectin H1,
• Gene location: 17p13.1 (7179563: 7173430)     Exons: 9     NC_000017.11
• Gene summary(Entrez): 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 term

SNPs

rs2656927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

Protein Summary

• Protein general information: P07306  
  • Name: Asialoglycoprotein receptor 1 (ASGP R 1) (ASGPR 1) (C type lectin domain family 4 member H1) (Hepatic lectin H1) (HL 1)
  • Length: 291  
  • Mass: 33186
  • Tissue specificity: Expressed exclusively in hepatic parenchymal cells.
• Sequence:

  MTKEYQDLQHLDNEESDHHQLRKGPPPPQPLLQRLCSGPRLLLLSLGLSLLLLVVVCVIGSQNSQLQEELRGLRE
  TFSNFTASTEAQVKGLSTQGGNVGRKMKSLESQLEKQQKDLSEDHSSLLLHVKQFVSDLRSLSCQMAALQGNGSE
  RTCCPVNWVEHERSCYWFSRSGKAWADADNYCRLEDAHLVVVTSWEEQKFVQHHIGPVNTWMGLHDQNGPWKWVD
  GTDYETGFKNWRPEQPDDWYGHGLGGGEDCAHFTDDGRWNDDVCQRPYRWVCETELDKASQEPPLL

• Structural information:
  • Protein Domains: (161..27-)
    (/note="C-type-lectin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00040"-)
  • Interpro: IPR001304  IPR016186  IPR018378  IPR033989  IPR016187  
  • Prosite: PS00615 PS50041
  • CDD: cd03590
  • PDB: 1DV8 5JPV 5JQ1
  • PDBsum: 1DV8 5JPV 5JQ1
  • STRING: ENSP00000269299
• Other Databases: GeneCards:  ASGR1  Malacards:  ASGR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0004873	asialoglycoprotein receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0018279	protein N-linked glycosylation via asparagine	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004873	asialoglycoprotein receptor activity	IEA	molecular function
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04918	Thyroid hormone synthesis

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray