UniProt functional annotation for O60880



	UniProt functional annotation for O60880

UniProt code: O60880.

Organism: Homo sapiens (Human).

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

Function: Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity). May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3. {ECO:0000250|UniProtKB:O88890, ECO:0000269|PubMed:11806999, ECO:0000269|PubMed:12458214, ECO:0000305|PubMed:21219180}.

Subunit: Interacts with NTRK1, NTRK2 and NTRK3 (By similarity). Interacts with CD84, CD244, LY9, SLAMF1 and FYN. {ECO:0000250, ECO:0000269|PubMed:11389028, ECO:0000269|PubMed:11477068, ECO:0000269|PubMed:11806999, ECO:0000269|PubMed:11823424, ECO:0000269|PubMed:12115647, ECO:0000269|PubMed:12458214, ECO:0000269|PubMed:12545174}.

Subcellular location: Cytoplasm {ECO:0000305}.

Tissue specificity: Expressed at a high level in thymus and lung, with a lower level of expression in spleen and liver. Expressed in peripheral blood leukocytes, including T-lymphocytes. Tends to be expressed at lower levels in peripheral blood leukocytes in patients with rheumatoid arthritis. {ECO:0000269|PubMed:11282995}.

Disease: Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. {ECO:0000269|PubMed:10598819, ECO:0000269|PubMed:11034354, ECO:0000269|PubMed:11049992, ECO:0000269|PubMed:11477068, ECO:0000269|PubMed:11493483, ECO:0000269|PubMed:11823424, ECO:0000269|PubMed:12458214, ECO:0000269|PubMed:14674764, ECO:0000269|PubMed:15841490, ECO:0000269|PubMed:16720617, ECO:0000269|PubMed:9771704}. Note=The disease is caused by variants affecting the gene represented in this entry.

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:		Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity). May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3. {ECO:0000250\|UniProtKB:O88890, ECO:0000269\|PubMed:11806999, ECO:0000269\|PubMed:12458214, ECO:0000305\|PubMed:21219180}.


Subunit:		Interacts with NTRK1, NTRK2 and NTRK3 (By similarity). Interacts with CD84, CD244, LY9, SLAMF1 and FYN. {ECO:0000250, ECO:0000269\|PubMed:11389028, ECO:0000269\|PubMed:11477068, ECO:0000269\|PubMed:11806999, ECO:0000269\|PubMed:11823424, ECO:0000269\|PubMed:12115647, ECO:0000269\|PubMed:12458214, ECO:0000269\|PubMed:12545174}.
Subcellular location:		Cytoplasm {ECO:0000305}.
Tissue specificity:		Expressed at a high level in thymus and lung, with a lower level of expression in spleen and liver. Expressed in peripheral blood leukocytes, including T-lymphocytes. Tends to be expressed at lower levels in peripheral blood leukocytes in patients with rheumatoid arthritis. {ECO:0000269\|PubMed:11282995}.
Disease:		Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. {ECO:0000269\|PubMed:10598819, ECO:0000269\|PubMed:11034354, ECO:0000269\|PubMed:11049992, ECO:0000269\|PubMed:11477068, ECO:0000269\|PubMed:11493483, ECO:0000269\|PubMed:11823424, ECO:0000269\|PubMed:12458214, ECO:0000269\|PubMed:14674764, ECO:0000269\|PubMed:15841490, ECO:0000269\|PubMed:16720617, ECO:0000269\|PubMed:9771704}. Note=The disease is caused by variants affecting the gene represented in this entry.