SH2 domain-containing protein 1A Duncan disease SH2-protein SLAM associated protein/SH2 domain protein 1A SLAM-associated protein T cell signal transduction molecule SAP signaling lymphocyte activation molecule-associated protein signaling lymphocytic activation molecule-associated protein
This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
The following SH2D1A gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the SH2D1A cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL023657.1 and AA190204.1. On Nov 30, 2019 this sequence version replaced NM_002351.4.
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AL023657.1, AB586694.1 [ECO:0000332]
##Evidence-Data-END##
##RefSeq-Attributes-START##
RefSeq Select criteria :: based on conservation, expression, longest protein
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL022718.1, AL023657.1 and AA190204.1. This sequence is a reference standard in the RefSeqGene project. On Apr 23, 2010 this sequence version replaced NM_002351.3.
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AL023657.1, AB586694.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
RefSeq Select criteria :: based on conservation, expression, longest protein
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL022718.1, DA007747.1, AF100541.1, AL023657.1 and AA190204.1. On Apr 23, 2010 this sequence version replaced NM_001114937.1.
Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF100541.1, DB112656.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.