UniProt functional annotation for P31785



	UniProt functional annotation for P31785

UniProt code: P31785.

Organism: Homo sapiens (Human).

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

Function: Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770). {ECO:0000269|PubMed:15123770}.

Subunit: The gamma subunit is common to the IL2, IL4, IL7, IL15, IL21 and probably also the IL13 receptors. Interacts with SHB upon interleukin stimulation. {ECO:0000269|PubMed:12200137, ECO:0000269|PubMed:16293754, ECO:0000269|PubMed:16477002}.

Subunit: (Microbial infection) Interacts with HTLV-1 accessory protein p12I. {ECO:0000269|PubMed:8648694}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:15123770}; Single-pass type I membrane protein {ECO:0000255}. Cell surface {ECO:0000269|PubMed:15123770}.

Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.

Domain: The box 1 motif is required for JAK interaction and/or activation.

Disease: Severe combined immunodeficiency X-linked T-cell-negative/B- cell-positive/NK-cell-negative (XSCID) [MIM:300400]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269|PubMed:7557965, ECO:0000269|PubMed:7668284, ECO:0000269|PubMed:7860773, ECO:0000269|PubMed:7937790, ECO:0000269|PubMed:8027558, ECO:0000269|PubMed:8088810, ECO:0000269|PubMed:8299698, ECO:0000269|PubMed:8401490, ECO:0000269|PubMed:8900089, ECO:0000269|PubMed:9049783, ECO:0000269|PubMed:9150740}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: X-linked combined immunodeficiency (XCID) [MIM:312863]: Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. {ECO:0000269|PubMed:7883965, ECO:0000269|PubMed:9399950}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the type I cytokine receptor family. Type 5 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:		Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770). {ECO:0000269\|PubMed:15123770}.


Subunit:		The gamma subunit is common to the IL2, IL4, IL7, IL15, IL21 and probably also the IL13 receptors. Interacts with SHB upon interleukin stimulation. {ECO:0000269\|PubMed:12200137, ECO:0000269\|PubMed:16293754, ECO:0000269\|PubMed:16477002}.
Subunit:		(Microbial infection) Interacts with HTLV-1 accessory protein p12I. {ECO:0000269\|PubMed:8648694}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:15123770}; Single-pass type I membrane protein {ECO:0000255}. Cell surface {ECO:0000269\|PubMed:15123770}.
Domain:		The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
Domain:		The box 1 motif is required for JAK interaction and/or activation.
Disease:		Severe combined immunodeficiency X-linked T-cell-negative/B- cell-positive/NK-cell-negative (XSCID) [MIM:300400]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269\|PubMed:7557965, ECO:0000269\|PubMed:7668284, ECO:0000269\|PubMed:7860773, ECO:0000269\|PubMed:7937790, ECO:0000269\|PubMed:8027558, ECO:0000269\|PubMed:8088810, ECO:0000269\|PubMed:8299698, ECO:0000269\|PubMed:8401490, ECO:0000269\|PubMed:8900089, ECO:0000269\|PubMed:9049783, ECO:0000269\|PubMed:9150740}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		X-linked combined immunodeficiency (XCID) [MIM:312863]: Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. {ECO:0000269\|PubMed:7883965, ECO:0000269\|PubMed:9399950}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the type I cytokine receptor family. Type 5 subfamily. {ECO:0000305}.