Property Summary

NCBI Gene PubMed Count 108
Grant Count 162
R01 Count 69
Funding $22,926,581.94
PubMed Score 422.38
PubTator Score 400.64

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
cutaneous lupus erythematosus 2.600 0.000
osteosarcoma -2.711 0.001
lung cancer -3.400 0.000
sarcoidosis 1.600 0.025
interstitial cystitis 2.500 0.002
primary Sjogren syndrome 1.600 0.001
ulcerative colitis 1.200 0.005
head and neck cancer and chronic obstruc... 1.100 0.010
psoriasis 1.500 0.000

Synonym

Accession O60880 A8MSW0 O95383 O95384 O95385 O95386 Q6FGS6 Q9UNR0
Symbols LYP
SAP
XLP
DSHP
EBVS
IMD5
XLPD
MTCP1
XLPD1
SAP/SH2D1A

Gene

PANTHER Protein Class (2)

PDB

1M27   1D1Z   1D4T   1D4W   1KA6   1KA7  

Gene RIF (70)

PMID Text
26878112 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'.
26433589 novel missense mutation in Australian patient with cerebral vasculitis in X-linked lymphoproliferative disease
25982576 no association between genetic polymorphism and X-linked lymphoproliferative disease in pediatric patients in Iran
25491288 We describe here a novel c.137+5G > A intronic mutation in the SH2D1A gene of the signaling lymphocyte activation molecule (SLAM)-associated protein (SAP) in association with Epstein-Barr virus (EBV)-induced fatal infectious mononucleosis (FIM) in an 8-year-old male patient and his 3-year-old step brother. The mother and the maternal grandmother of the boys are healthy and heterozygous for this sequence variant.
24985396 Study of SAP expression is specific but may have insufficient sensitivity for screening XLP1 as a single tool; however, combination with 2B4 functional assay allows identification of all cases
24770789 Molecular dynamics analysis revealed that mutant R32Q and T53I structures of SAP exhibited structural variation with respect to their backbone atoms before and after binding with the unphosphorylated SLAM peptide.
24723092 The mutation c.131G>A in this patient was found in combination with a second SH2D1A mutation
24688028 our data reveal how SAP nucleates a previously unknown signaling complex involving NTB-A and LCK to potentiate restimulation-induced cell death of activated human T cells.
24659462 In patients suffering from X-linked lymphoproliferative disease (XLP1), SAP is nonfunctional, not only abolishing the activating function of 2B4, but rendering this receptor inhibitory.
24388971 SAP is a new actor downstream of PECAM-1 and its binding regulates PECAM-1 mediated cell adhesion.
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AA Sequence

MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAP      1 - 70
GVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP                 71 - 128
//

Text Mined References (116)

PMID Year Title
26878112 2016 A hematopoietic cell-driven mechanism involving SLAMF6 receptor, SAP adaptors and SHP-1 phosphatase regulates NK cell education.
26433589 2015 Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.
26221972 2015 A polymorphism in a phosphotyrosine signalling motif of CD229 (Ly9, SLAMF3) alters SH2 domain binding and T-cell activation.
25982576 Study of SH2D1A gene mutation in paediatric patients with B-cell lymphoma.
25491288 2015 Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene.
25416956 2014 A proteome-scale map of the human interactome network.
24985396 2014 Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis.
24770789 2014 Structural characterization of disease-causing mutations on SAP and the functional impact on the SLAM peptide: a molecular dynamics approach.
24728074 2014 Enhanced prediction of Src homology 2 (SH2) domain binding potentials using a fluorescence polarization-derived c-Met, c-Kit, ErbB, and androgen receptor interactome.
24723092 2014 The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.
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