UniProt functional annotation for Q9HBE5



	UniProt functional annotation for Q9HBE5

UniProt code: Q9HBE5.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: This is a receptor for interleukin-21.

Subunit: Heterodimer with the common gamma subunit. Associates with JAK1. {ECO:0000269|PubMed:22235133}.

Subcellular location: Membrane; Single-pass type I membrane protein.

Tissue specificity: Selectively expressed in lymphoid tissues. Most highly expressed in thymus and spleen.

Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. {ECO:0000269|PubMed:22235133}.

Domain: The box 1 motif is required for JAK interaction and/or activation. {ECO:0000269|PubMed:22235133}.

Ptm: C-mannosylated at Trp-214 in the WSXWS motif, the sugar chain makes extensive hydrogen bonds with Asn-73 sugar, and bridges the two fibronectin domains transforming the V-shaped receptor into an A-frame.

Disease: Immunodeficiency 56 (IMD56) [MIM:615207]: An autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B- cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens. {ECO:0000269|PubMed:23440042}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Note=Chromosomal aberrations involving IL21R is a cause of B- cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;16)(q27;p11), with BCL6.

Similarity: Belongs to the type I cytokine receptor family. Type 4 subfamily. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		This is a receptor for interleukin-21.


Subunit:		Heterodimer with the common gamma subunit. Associates with JAK1. {ECO:0000269\|PubMed:22235133}.
Subcellular location:		Membrane; Single-pass type I membrane protein.
Tissue specificity:		Selectively expressed in lymphoid tissues. Most highly expressed in thymus and spleen.
Domain:		The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. {ECO:0000269\|PubMed:22235133}.
Domain:		The box 1 motif is required for JAK interaction and/or activation. {ECO:0000269\|PubMed:22235133}.
Ptm:		C-mannosylated at Trp-214 in the WSXWS motif, the sugar chain makes extensive hydrogen bonds with Asn-73 sugar, and bridges the two fibronectin domains transforming the V-shaped receptor into an A-frame.
Disease:		Immunodeficiency 56 (IMD56) [MIM:615207]: An autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B- cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens. {ECO:0000269\|PubMed:23440042}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Note=Chromosomal aberrations involving IL21R is a cause of B- cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;16)(q27;p11), with BCL6.
Similarity:		Belongs to the type I cytokine receptor family. Type 4 subfamily. {ECO:0000305}.