| Gene Symbol |
SH2D1A
|
| Entrez Gene |
4068
|
| Alt Symbol |
DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/SH2D1A, XLP, XLPD, XLPD1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
SH2 domain containing 1A
|
| Other Description |
Duncan disease SH2-protein|SH2 domain-containing protein 1A|SLAM associated protein/SH2 domain protein 1A|SLAM-associated protein|T cell signal transduction molecule SAP|T-cell signal transduction molecule SAP|signaling lymphocyte activation molecule-associated protein|signaling lymphocytic activation molecule-associated protein
|
| Swissprots |
A8MSW0 O60880 O95386 Q9UNR0 O95384 O95385 O95383 Q6FGS6
|
| Accessions |
AFX84033 AFX84034 CAV31693 CAZ78681 EAX11847 EAX11848 EAX11849 EAX11850 EAX11851 O60880 AA190204 AB586694 BAJ19023 AF072930 AAC62630 AF073019 AAC62631 AF100539 AAC79712 AF100540 AAC79713 AF100541 AAC79714 AF100542 AAC79715 AF100543 AAC79716 AK311645 AK311911 BAG34852 AL023657 CAA19222 BC020732 AAH20732 BP432686 CR542031 CAG46828 CR542043 CAG46840 DA007747 DQ895164 ABM86090 EU176322 ABW03773 JX512648 AFX84035 NM_001114937 NP_001108409 NM_002351 NP_002342
|
| Function |
Inhibitor of the SLAM self-association. Acts by blocking recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region. Mediates interaction between FYN and SLAMF1. May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3.
|
| 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}.
|
| Top Pathways |
Natural killer cell mediated cytotoxicity, Measles
|
![Western Blot: SH2D1A/SAP Overexpression Lysate (Adult Normal) [NBL1-15918] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for SH2D1A/SAP.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/4867_SH2D1A-SAP%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-15918-img0002.jpg)