SH2D1A cDNA ORF clone, Homo sapiens(human)
| Gene Symbol | SH2D1A |
| Entrez Gene ID | 4068 |
| Full Name | SH2 domain containing 1A |
| Synonyms | DSHP,EBVS,IMD5,LYP,MTCP1,SAP,SAP/SH2D1A,XLP,XLPD,XLPD1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Lymphoproliferative syndrome, X-linked, 1, 308240 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_001114937.2 | NP_001108409.1 | SH2 domain-containing protein 1A isoform 2 |
| NM_002351.4 | NP_002342.1 | SH2 domain-containing protein 1A isoform 1 |
| Bos taurus (cattle) | SH2D1A | NP_001029905.1 |
| Mus musculus (house mouse) | Sh2d1a | NP_035494.1 |
| Xenopus tropicalis (tropical clawed frog) | sh2d1a | XP_002931832.1 |
| Homo sapiens (human) | SH2D1A | NP_002342.1 |
| SH2D1A | NP_001028009.1 | |
| Canis lupus familiaris (dog) | SH2D1A | XP_852122.1 |
| Rattus norvegicus (Norway rat) | Sh2d1a | NP_001102783.2 |
| Danio rerio (zebrafish) | sh2d1ab | XP_001920648.3 |
| Gallus gallus (chicken) | LOC100857869 | XP_003641167.1 |
Related articles in PubMed
X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis.
de la Varga-Mart?nez R, Mora-L?pez F, Garc?a-Cuesta D, Garrastazul-S?nchez MP, Quintero S, Rodr?guez C, Sampalo A
Journal of pediatric hematology/oncology39(8)e483-e485(2017 Nov)
T Cells Regulate Peripheral Naive Mature B Cell Survival by Cell-Cell Contact Mediated through SLAMF6 and SAP.
Radomir L, Cohen S, Kramer MP, Bakos E, Lewinsky H, Barak A, Porat Z, Bucala R, Stepensky P, Becker-Herman S, Shachar I
Journal of immunology (Baltimore, Md. : 1950)199(8)2745-2757(2017 Oct)
Skewed Invariant Natural Killer T (iNKT) Cells, Impaired iNKT:B Cell Help and Decreased SAP Expression in Blood Lymphocytes from Patients with Common Variable Immunodeficiency.
Erazo-Borr?s LV, ?lvarez-?lvarez JA, Perez-Romero CA, Orrego-Arango JC, Franco-Restrepo JL, Trujillo-Vargas CM
Scandinavian journal of immunology86(3)171-178(2017 Sep)
Decreased SAP Expression in T Cells from Patients with Systemic Lupus Erythematosus Contributes to Early Signaling Abnormalities and Reduced IL-2 Production.
Karampetsou MP, Comte D, Kis-Toth K, Terhorst C, Kyttaris VC, Tsokos GC
Journal of immunology (Baltimore, Md. : 1950)196(12)4915-24(2016 06)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
we describe for the first time the clinical manifestations associated with XLP-1 based on the c.278G>A variant in the SH2D1A gene. The patient had a relatively late age of onset and presented mainly with primary HLH associated with EBV infection without a familial history of immunodeficiency.
Title: X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis.
in X-linked lymphoproliferative disease patients, SAP deficiency reduces CD74 expression, resulting in the perturbation of B cell maintenance from the naive stage
Title: T Cells Regulate Peripheral Naive Mature B Cell Survival by Cell-Cell Contact Mediated through SLAMF6 and SAP.
this study shows reduced intracellular SAP expression in iNKT cells and other lymphocytes in the blood from common variable immunodeficiency
Title: Skewed Invariant Natural Killer T (iNKT) Cells, Impaired iNKT:B Cell Help and Decreased SAP Expression in Blood Lymphocytes from Patients with Common Variable Immunodeficiency.
study concludes that systemic lupus erythematosus (SLE) T cells display reduced levels of the adaptor protein SAP, probably as a result of continuous T cell activation and degradation by caspase-3. Restoration of SAP levels in SLE T cells corrects the overexcitable lupus T cell phenotype.
Title: Decreased SAP Expression in T Cells from Patients with Systemic Lupus Erythematosus Contributes to Early Signaling Abnormalities and Reduced IL-2 Production.
In addition to their role in NK cell activation by hematopoietic cells, the SLAM-SAP-SHP1 pathways influence responsiveness toward nonhematopoietic targets by a process akin to NK cell 'education'.
Title: A hematopoietic cell-driven mechanism involving SLAMF6 receptor, SAP adaptors and SHP-1 phosphatase regulates NK cell education.
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.
| CloneID | OHu21407 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_002351.4 | |
| Accession Version | NM_002351.4 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 387bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector |  User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | COA |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-12-28 | |
| Organism | Homo sapiens(human) | |
| Product | SH2 domain-containing protein 1A isoform 1 | |
| Comment | 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## COMPLETENESS: complete on the 3' end. | |
1 | ATGGACGCAG TGGCTGTGTA TCATGGCAAA ATCAGCAGGG AAACCGGCGA GAAGCTCCTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_002342.1 |
| CDS | 362..748 |
| Misc Feature(1) | 281..283 |
| Misc Feature(2) | 365..673 |
| Misc Feature(3) | order(398..400,455..457,518..520,524..526) |
| Misc Feature(4) | order(518..523,557..562,575..577,584..586,632..640) |
| Misc Feature(5) | 560..637 |
| Misc Feature(6) | 626..628 |
| Exon (1) | 1..498 |
| Exon (2) | 499..562 |
| Exon (3) | 563..707 |
| Exon (4) | 708..2517 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_002351.4 |
ORF Insert Sequence:
1 | ATGGACGCAG TGGCTGTGTA TCATGGCAAA ATCAGCAGGG AAACCGGCGA GAAGCTCCTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu20948 | |
| Clone ID Related Accession (Same CDS sequence) | NM_001114937.2 | |
| Accession Version | NM_001114937.2 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 378bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-12-28 | |
| Organism | Homo sapiens(human) | |
| Product | SH2 domain-containing protein 1A isoform 2 | |
| Comment | 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. | |
1 | ATGGACGCAG TGGCTGTGTA TCATGGCAAA ATCAGCAGGG AAACCGGCGA GAAGCTCCTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001108409.1 |
| CDS | 362..739 |
| Misc Feature(1) | 281..283 |
| Misc Feature(2) | 365..673 |
| Misc Feature(3) | order(398..400,455..457,518..520,524..526) |
| Misc Feature(4) | order(518..523,557..562,575..577,584..586,632..640) |
| Exon (1) | 1..498 |
| Exon (2) | 499..562 |
| Exon (3) | 563..698 |
| Exon (4) | 699..2508 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001114937.2 |
ORF Insert Sequence:
1 | ATGGACGCAG TGGCTGTGTA TCATGGCAAA ATCAGCAGGG AAACCGGCGA GAAGCTCCTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis. |
|
T Cells Regulate Peripheral Naive Mature B Cell Survival by Cell-Cell Contact Mediated through SLAMF6 and SAP. |
|
Skewed Invariant Natural Killer T (iNKT) Cells, Impaired iNKT:B Cell Help and Decreased SAP Expression in Blood Lymphocytes from Patients with Common Variable Immunodeficiency. |
|
Decreased SAP Expression in T Cells from Patients with Systemic Lupus Erythematosus Contributes to Early Signaling Abnormalities and Reduced IL-2 Production. |