SH2D1A
entrez
4068
canonical
uniprot
O60880
canonical
ensembl
ENSG00000183918
resolver
ensp
ENSP00000353126
resolver
ensp
ENSP00000360181
resolver
genesymbol
SH2D1A
resolver
genesymbol_syn
DSHP
resolver
genesymbol_syn
SAP
resolver
hgnc
HGNC:10820
resolver
uniprot
A8MSW0
resolver
uniprot
O95383
resolver
uniprot
O95384
resolver
uniprot
O95385
resolver
uniprot
O95386
resolver
uniprot
Q6FGS6
resolver
uniprot
Q9UNR0
resolver
uniprot_entry
SH21A_HUMAN
resolver
uniprot_sec
A8MSW0
resolver
uniprot_sec
O95383
resolver
uniprot_sec
O95384
resolver
uniprot_sec
O95385
resolver
uniprot_sec
O95386
resolver
uniprot_sec
Q6FGS6
resolver
uniprot_sec
Q9UNR0
resolver
amino_acid_sequence
MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10598819, ECO:0000269|PubMed:11034354, ECO:0000269|PubMed:11049992, ECO:0000269|PubMed:11477068, ECO:0000269|PubMed:11493483, ECO:0000269|PubMed:11823424, ECO:0000269|PubMed:12458214, ECO:0000269|PubMed:14674764, ECO:0000269|PubMed:15841490, ECO:0000269|PubMed:16720617, ECO:0000269|PubMed:21119115, ECO:0000269|PubMed:9771704}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity). May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3. {ECO:0000250|UniProtKB:O88890, ECO:0000269|PubMed:11806999, ECO:0000269|PubMed:12458214, ECO:0000305|PubMed:21219180}.
uniprot
proteins
mass_dalton
14187
uniprot
proteins
mutagenesis
MUTAGEN 32; /note="R->Q: Strongly reduced affinity for SLAMF1."; /evidence="ECO:0000269|PubMed:11823424"; MUTAGEN 78; /note="R->E: Disrupts interaction with FYN."; /evidence="ECO:0000269|PubMed:12545174
uniprot
proteins
pubmed
10549287
uniprot
proteins
pubmed
10598819
uniprot
proteins
pubmed
11034354
uniprot
proteins
pubmed
11049992
uniprot
proteins
pubmed
11282995
uniprot
proteins
pubmed
11389028
uniprot
proteins
pubmed
11477068
uniprot
proteins
pubmed
11493483
uniprot
proteins
pubmed
11806999
uniprot
proteins
pubmed
11823424
uniprot
proteins
pubmed
12115647
uniprot
proteins
pubmed
12458214
uniprot
proteins
pubmed
12545173
uniprot
proteins
pubmed
12545174
uniprot
proteins
pubmed
14583885
uniprot
proteins
pubmed
14674764
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15841490
uniprot
proteins
pubmed
16720617
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21119115
uniprot
proteins
pubmed
21219180
uniprot
proteins
pubmed
9771704
uniprot
proteins
pubmed
9774102
uniprot
proteins
sequence_length
128
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:9774102}.
uniprot
proteins