| Type | Description |
|---|---|
| Definition | SH2 domain containing 1A |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:54:00 | SAP interacts with CD28 to inhibit PD-1 signaling in T lymphocytes. | 32504780 |
| 2020-07-04 12:34:00 | Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease. | 31994322 |
| 2020-04-18 11:43:00 | A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease. | 31415280 |
| 2020-04-11 12:52:00 | hese data indicate NK cell-mediated cytotoxicity is not equally affected in Acute lymphoblastic leukemia (ALL) patients, nevertheless a positive correlation between low SAP expression and decreased NK cell-mediated cytotoxicity was observed in ALL patients with a leukocyte count >/=50,000xmm3 | 31951638 |
| 2019-12-21 10:41:00 | A new SH2D1A mutation in a female adult XLP disease with hemophagocytic lymphohistiocytosis and NK-cell leukemia. | 31758261 |
| Type | IDs |
|---|---|
| Synonymous | DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/SH2D1A, XLP, XLPD, XLPD1 |
| Gene |
UniProtKB-ID:
SH21A_HUMAN
UniprotKB:
O60880
UniParc:
UPI000002B388,
UPI000002B38B,
UPI0000000D0B,
UPI000002B38C,
UPI000002B38A,
UPI000002B389
EMBL:
AL022718,
BC020732,
AF073019,
AL023657,
AF072930,
AK311911,
AF100539,
AF100542,
AB586694,
CH471107,
CR542031,
AF100540,
AF100543,
CR542043,
AF100541
Ensembl:
ENSG00000183918
KO:
hsa:4068
|
| Nucleutide sequences |
EMBL-CDS:
AAC79714.1,
CAA19222.1,
AAC62631.1,
CAG46828.1,
BAJ19023.1,
AAC62630.1,
AAC79716.1,
AAC79713.1,
EAX11849.1,
AAC79712.1,
AAH20732.1,
BAG34852.1,
EAX11848.1,
CAG46840.1,
AAC79715.1
Ensembl_TRS:
ENST00000371139,
ENST00000360027,
ENST00000477673
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000477094,
ENSP00000360181,
ENSP00000353126
RefSeq:
NP_001108409.1,
NP_002342.1
|
| Others |
UniRef100:
UniRef100_O60880
UniRef90:
UniRef90_O60880
UniRef50:
UniRef50_O60880
UniGene:
Hs.349094
CCDS:
CCDS48162.1,
CCDS14608.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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