InnateDB Protein
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IDBP-85370.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SH2D1A
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Protein Name
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SH2 domain containing 1A
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Synonyms
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DSHP; EBVS; IMD5; LYP; MTCP1; SAP; SAP/SH2D1A; XLP; XLPD; XLPD1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000360181
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InnateDB Gene
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IDBG-85368 (SH2D1A)
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Protein Structure
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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 and SLAMF1. May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3.
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Subcellular Localization |
Cytoplasm {ECO:0000305}.
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Disease Associations |
Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. {ECO:0000269PubMed:10598819, ECO:0000269PubMed:11034354, ECO:0000269PubMed:11049992, ECO:0000269PubMed:11493483, ECO:0000269PubMed:15841490, ECO:0000269PubMed:16720617, ECO:0000269PubMed:9771704}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed at a high level in thymus and lung, with a lower level of expression in spleen and liver. Expressed in peripheral blood leukocytes, including T-lymphocytes. Tends to be expressed at lower levels in peripheral blood leukocytes in patients with rheumatoid arthritis. {ECO:0000269PubMed:11282995}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
43
[view]
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Protein-Protein |
43
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000980
SH2 domain
IPR017289
SH2 protein 1A
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PFAM |
PF00017
PF14633
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PRINTS |
PR00401
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PIRSF |
PIRSF037828
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SMART |
SM00252
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TIGRFAMs |
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Modification |
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SwissProt |
O60880
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PhosphoSite |
PhosphoSite-O60880
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
4068
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UniGene |
Hs.603593
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RefSeq |
NP_002342
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HUGO |
HGNC:10820
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OMIM |
300490
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CCDS |
CCDS14608
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HPRD |
02390
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IMGT |
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EMBL |
AB586694
AF072930
AF073019
AF100539
AF100540
AF100541
AF100542
AF100543
AK311911
AL022718
AL023657
BC020732
CH471107
CR542031
CR542043
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GenPept |
AAC62630
AAC62631
AAC79712
AAC79713
AAC79714
AAC79715
AAC79716
AAH20732
BAG34852
BAJ19023
CAA18777
CAA19222
CAG46828
CAG46840
EAX11848
EAX11849
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