UniProt functional annotation for O15117



	UniProt functional annotation for O15117

UniProt code: O15117.

Organism: Homo sapiens (Human).

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

Function: Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells (By similarity). May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton (PubMed:10747096, PubMed:16980616). Modulates the expression of IL2 (By similarity). Involved in platelet activation (By similarity). Prevents the degradation of SKAP1 and SKAP2 (PubMed:15849195). May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells (By similarity). {ECO:0000250|UniProtKB:D3ZIE4, ECO:0000250|UniProtKB:O35601, ECO:0000269|PubMed:10747096, ECO:0000269|PubMed:15849195, ECO:0000269|PubMed:16980616}.

Subunit: Part of a complex consisting of SKAP2, FYB1 and PTPNS1 (By similarity). Part of a complex consisting of SKAP2, FYB1 and LILRB3 (By similarity). Part of a complex consisting of SKAP1, FYB1 and CLNK (By similarity). Interacts with CLNK (via its SH2 domain); this interaction allows SKAP1 and FYB1 to recruit FYN to the complex, thus promoting the phosphorylation of CLNK by FYN (By similarity). Interacts with FYN (PubMed:9207119, PubMed:15849195, PubMed:27335501). Interacts with LCP2 (PubMed:9207119, PubMed:27335501). Interacts with SKAP1 (PubMed:9755858, PubMed:9748251, PubMed:9671755, PubMed:10856234, PubMed:15849195, PubMed:16461356, PubMed:27335501). Interacts with SKAP2 (PubMed:9755858, PubMed:9671755, PubMed:10942756). Interacts with FASLG (PubMed:19807924). Interacts with EVL (PubMed:10747096). Interacts with TMEM47 (By similarity). Interacts with LCK (PubMed:27335501). {ECO:0000250|UniProtKB:D3ZIE4, ECO:0000250|UniProtKB:O35601, ECO:0000269|PubMed:10747096, ECO:0000269|PubMed:10856234, ECO:0000269|PubMed:10942756, ECO:0000269|PubMed:15849195, ECO:0000269|PubMed:16461356, ECO:0000269|PubMed:19807924, ECO:0000269|PubMed:27335501, ECO:0000269|PubMed:9207119, ECO:0000269|PubMed:9671755, ECO:0000269|PubMed:9748251, ECO:0000269|PubMed:9755858}.

Subcellular location: Cytoplasm {ECO:0000269|PubMed:9671755}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00768}. Cell junction {ECO:0000250|UniProtKB:O35601}. Note=Colocalizes with TMEM47 at cell- cell contacts in podocytes. {ECO:0000250|UniProtKB:O35601}.

Tissue specificity: Expressed in hematopoietic tissues such as myeloid and T-cells, spleen and thymus. Not expressed in B-cells, nor in non- lymphoid tissues.

Ptm: T-cell receptor ligation leads to increased tyrosine phosphorylation.

Disease: Thrombocytopenia 3 (THC3) [MIM:273900]: A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC3 is an autosomal recessive form characterized by onset in infancy. {ECO:0000269|PubMed:25516138, ECO:0000269|PubMed:25876182}. 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:		Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells (By similarity). May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton (PubMed:10747096, PubMed:16980616). Modulates the expression of IL2 (By similarity). Involved in platelet activation (By similarity). Prevents the degradation of SKAP1 and SKAP2 (PubMed:15849195). May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells (By similarity). {ECO:0000250\|UniProtKB:D3ZIE4, ECO:0000250\|UniProtKB:O35601, ECO:0000269\|PubMed:10747096, ECO:0000269\|PubMed:15849195, ECO:0000269\|PubMed:16980616}.


Subunit:		Part of a complex consisting of SKAP2, FYB1 and PTPNS1 (By similarity). Part of a complex consisting of SKAP2, FYB1 and LILRB3 (By similarity). Part of a complex consisting of SKAP1, FYB1 and CLNK (By similarity). Interacts with CLNK (via its SH2 domain); this interaction allows SKAP1 and FYB1 to recruit FYN to the complex, thus promoting the phosphorylation of CLNK by FYN (By similarity). Interacts with FYN (PubMed:9207119, PubMed:15849195, PubMed:27335501). Interacts with LCP2 (PubMed:9207119, PubMed:27335501). Interacts with SKAP1 (PubMed:9755858, PubMed:9748251, PubMed:9671755, PubMed:10856234, PubMed:15849195, PubMed:16461356, PubMed:27335501). Interacts with SKAP2 (PubMed:9755858, PubMed:9671755, PubMed:10942756). Interacts with FASLG (PubMed:19807924). Interacts with EVL (PubMed:10747096). Interacts with TMEM47 (By similarity). Interacts with LCK (PubMed:27335501). {ECO:0000250\|UniProtKB:D3ZIE4, ECO:0000250\|UniProtKB:O35601, ECO:0000269\|PubMed:10747096, ECO:0000269\|PubMed:10856234, ECO:0000269\|PubMed:10942756, ECO:0000269\|PubMed:15849195, ECO:0000269\|PubMed:16461356, ECO:0000269\|PubMed:19807924, ECO:0000269\|PubMed:27335501, ECO:0000269\|PubMed:9207119, ECO:0000269\|PubMed:9671755, ECO:0000269\|PubMed:9748251, ECO:0000269\|PubMed:9755858}.
Subcellular location:		Cytoplasm {ECO:0000269\|PubMed:9671755}. Nucleus {ECO:0000255\|PROSITE-ProRule:PRU00768}. Cell junction {ECO:0000250\|UniProtKB:O35601}. Note=Colocalizes with TMEM47 at cell- cell contacts in podocytes. {ECO:0000250\|UniProtKB:O35601}.
Tissue specificity:		Expressed in hematopoietic tissues such as myeloid and T-cells, spleen and thymus. Not expressed in B-cells, nor in non- lymphoid tissues.
Ptm:		T-cell receptor ligation leads to increased tyrosine phosphorylation.
Disease:		Thrombocytopenia 3 (THC3) [MIM:273900]: A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC3 is an autosomal recessive form characterized by onset in infancy. {ECO:0000269\|PubMed:25516138, ECO:0000269\|PubMed:25876182}. Note=The disease is caused by variants affecting the gene represented in this entry.