SH2 domain-containing protein 1A; signaling lymphocytic activation molecule-associated protein; SLAM-associated protein; T-cell signal transduction molecule SAP; Duncan disease SH2-protein (SH2D1A, DSHP, SAP)

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 & SLAMF1
• interacts with CD84, CD244, LY9, SLAMF1 & FYN

Structure

• contains 1 SH2 domain

Compartment

• cytoplasm (probable)

Alternative splicing

• named isoforms=6; A, B, C, D, E, F

Expression

• expressed at a high level in thymus & lung, with a lower level of expression in spleen & liver

Pathology

• defects in SH2D1A are a cause of X-linked lymphoproliferative syndrome type 1

More general terms

• SH2 domain-containing protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4068
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4068
• OMIM: https://mirror.omim.org/entry/300490
• OMIM: https://mirror.omim.org/entry/308240
• UniProt: http://www.uniprot.org/uniprot/O60880.html