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SH2D1A cDNA ORF clone, Homo sapiens(human)

Summary

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
Preferred Names

SH2 domain containing 1A

Names

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
Gene Type protein-coding
Organism Homo sapiens(human)
Genome

X

Xq25
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:

300490

Disorder Html: Lymphoproliferative syndrome, X-linked, 1, 308240 (3)

Reference Sequences (RefSeq)

mRNA and Protein(s)

mRNA Protein Name
NM_001114937.2 NP_001108409.1 SH2 domain-containing protein 1A isoform 2
NM_002351.5 NP_002342.1 SH2 domain-containing protein 1A isoform 1
NM_002351.4 NP_002342.1 SH2 domain-containing protein 1A isoform 1

Pathways from BioSystems


Homologies


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

Gene Ontology


Bibliography

Related articles in PubMed

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)

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 Accession No. Definition **Vector *Turnaround time Price (USD) Select
OHu21407 NM_002351.5
Latest version!		 Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $49.50-$69.30
$99.00
OHu20948 NM_001114937.2
Latest version!		 Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00
View Old Accession Versions >>
OHu21407 NM_002351.4 Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK		 $49.50-$69.30
$99.00
Hide Old Accession Versions >>

ORF Online Only Promotion

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)


CloneID OHu21407
Clone ID Related Accession (Same CDS sequence) NM_002351.5 , NM_002351.4
Accession Version NM_002351.5 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
ORF Insert Method CloneEZ™ Seamless cloning technology
Insert Structure linear
Update Date 2020-01-04
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 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. 

1
61
121
181
241
301
361
ATGGACGCAG TGGCTGTGTA TCATGGCAAA ATCAGCAGGG AAACCGGCGA GAAGCTCCTG 
CTTGCCACTG GGCTGGATGG CAGCTATTTG CTGAGGGACA GCGAGAGCGT GCCAGGCGTG 
TACTGCCTAT GTGTGCTGTA TCACGGTTAC ATTTATACAT ACCGAGTGTC CCAGACAGAA 
ACAGGTTCTT GGAGTGCTGA GACAGCACCT GGGGTACATA AAAGATATTT CCGGAAAATA 
AAAAATCTCA TTTCAGCATT TCAGAAGCCA GATCAAGGCA TTGTAATACC TCTGCAGTAT 
CCAGTTGAGA AGAAGTCCTC AGCTAGAAGT ACACAAGGTA CTACAGGGAT AAGAGAAGAT 
CCTGATGTCT GCCTGAAAGC CCCATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_002342.1
CDS81..467
Translation

Target ORF information:

RefSeq Version NM_002351.5
Organism Homo sapiens(human)
Definition Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_002351.5

ORF Insert Sequence:

1
61
121
181
241
301
361
ATGGACGCAG TGGCTGTGTA TCATGGCAAA ATCAGCAGGG AAACCGGCGA GAAGCTCCTG 
CTTGCCACTG GGCTGGATGG CAGCTATTTG CTGAGGGACA GCGAGAGCGT GCCAGGCGTG 
TACTGCCTAT GTGTGCTGTA TCACGGTTAC ATTTATACAT ACCGAGTGTC CCAGACAGAA 
ACAGGTTCTT GGAGTGCTGA GACAGCACCT GGGGTACATA AAAGATATTT CCGGAAAATA 
AAAAATCTCA TTTCAGCATT TCAGAAGCCA GATCAAGGCA TTGTAATACC TCTGCAGTAT 
CCAGTTGAGA AGAAGTCCTC AGCTAGAAGT ACACAAGGTA CTACAGGGAT AAGAGAAGAT 
CCTGATGTCT GCCTGAAAGC CCCATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu21407
Clone ID Related Accession (Same CDS sequence) NM_002351.5 , NM_002351.4
Accession Version NM_002351.4 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
ORF Insert Method CloneEZ™ Seamless cloning technology
Insert Structure linear
Update Date 2019-05-03
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## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. 

1
61
121
181
241
301
361
ATGGACGCAG TGGCTGTGTA TCATGGCAAA ATCAGCAGGG AAACCGGCGA GAAGCTCCTG 
CTTGCCACTG GGCTGGATGG CAGCTATTTG CTGAGGGACA GCGAGAGCGT GCCAGGCGTG 
TACTGCCTAT GTGTGCTGTA TCACGGTTAC ATTTATACAT ACCGAGTGTC CCAGACAGAA 
ACAGGTTCTT GGAGTGCTGA GACAGCACCT GGGGTACATA AAAGATATTT CCGGAAAATA 
AAAAATCTCA TTTCAGCATT TCAGAAGCCA GATCAAGGCA TTGTAATACC TCTGCAGTAT 
CCAGTTGAGA AGAAGTCCTC AGCTAGAAGT ACACAAGGTA CTACAGGGAT AAGAGAAGAT 
CCTGATGTCT GCCTGAAAGC CCCATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_002342.1
CDS362..748
Translation

Target ORF information:

RefSeq Version NM_002351.4
Organism Homo sapiens(human)
Definition Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_002351.4

ORF Insert Sequence:

1
61
121
181
241
301
361
ATGGACGCAG TGGCTGTGTA TCATGGCAAA ATCAGCAGGG AAACCGGCGA GAAGCTCCTG 
CTTGCCACTG GGCTGGATGG CAGCTATTTG CTGAGGGACA GCGAGAGCGT GCCAGGCGTG 
TACTGCCTAT GTGTGCTGTA TCACGGTTAC ATTTATACAT ACCGAGTGTC CCAGACAGAA 
ACAGGTTCTT GGAGTGCTGA GACAGCACCT GGGGTACATA AAAGATATTT CCGGAAAATA 
AAAAATCTCA TTTCAGCATT TCAGAAGCCA GATCAAGGCA TTGTAATACC TCTGCAGTAT 
CCAGTTGAGA AGAAGTCCTC AGCTAGAAGT ACACAAGGTA CTACAGGGAT AAGAGAAGAT 
CCTGATGTCT GCCTGAAAGC CCCATGA

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 2019-12-24
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
61
121
181
241
301
361
ATGGACGCAG TGGCTGTGTA TCATGGCAAA ATCAGCAGGG AAACCGGCGA GAAGCTCCTG 
CTTGCCACTG GGCTGGATGG CAGCTATTTG CTGAGGGACA GCGAGAGCGT GCCAGGCGTG 
TACTGCCTAT GTGTGCTGTA TCACGGTTAC ATTTATACAT ACCGAGTGTC CCAGACAGAA 
ACAGGTTCTT GGAGTGCTGA GACAGCACCT GGGGTACATA AAAGATATTT CCGGAAAATA 
AAAAATCTCA TTTCAGCATT TCAGAAGCCA GATCAAGGCA TTGTAATACC TCTGCAGTAT 
CCAGTTGAGA AGAAGTCCTC AGCTAGAAGT ACACAAGGGA TAAGAGAAGA TCCTGATGTC 
TGCCTGAAAG CCCCATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001108409.1
CDS362..739
Translation

Target ORF information:

RefSeq Version NM_001114937.2
Organism Homo sapiens(human)
Definition Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
 NM_001114937.2

ORF Insert Sequence:

1
61
121
181
241
301
361
ATGGACGCAG TGGCTGTGTA TCATGGCAAA ATCAGCAGGG AAACCGGCGA GAAGCTCCTG 
CTTGCCACTG GGCTGGATGG CAGCTATTTG CTGAGGGACA GCGAGAGCGT GCCAGGCGTG 
TACTGCCTAT GTGTGCTGTA TCACGGTTAC ATTTATACAT ACCGAGTGTC CCAGACAGAA 
ACAGGTTCTT GGAGTGCTGA GACAGCACCT GGGGTACATA AAAGATATTT CCGGAAAATA 
AAAAATCTCA TTTCAGCATT TCAGAAGCCA GATCAAGGCA TTGTAATACC TCTGCAGTAT 
CCAGTTGAGA AGAAGTCCTC AGCTAGAAGT ACACAAGGGA TAAGAGAAGA TCCTGATGTC 
TGCCTGAAAG CCCCATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

PubMed

book

T Cells Regulate Peripheral Naive Mature B Cell Survival by Cell-Cell Contact Mediated through SLAMF6 and SAP.
Journal of immunology (Baltimore, Md. : 1950)199(8)2745-2757(2017 Oct)
Radomir L,Cohen S,Kramer MP,Bakos E,Lewinsky H,Barak A,Porat Z,Bucala R,Stepensky P,Becker-Herman S,Shachar I


book

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.
Scandinavian journal of immunology86(3)171-178(2017 Sep)
Erazo-Borr?s LV,?lvarez-?lvarez JA,Perez-Romero CA,Orrego-Arango JC,Franco-Restrepo JL,Trujillo-Vargas CM