KEGG   Homo sapiens (human): 4068
Entry
4068              CDS       T01001                                 

Symbol
SH2D1A, DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/SH2D1A, XLP, XLPD, XLPD1
Name
(RefSeq) SH2 domain containing 1A
  KO
K07990  SH2 domain-containing protein 1A
Organism
hsa  Homo sapiens (human)
Pathway
hsa04650  Natural killer cell mediated cytotoxicity
Disease
H00107  Other well-defined immunodeficiency syndromes
H01969  X-linked lymphoproliferative syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04650 Natural killer cell mediated cytotoxicity
    4068 (SH2D1A)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    4068 (SH2D1A)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Src homology (SH) domain-containing proteins
  Other SH2 and SH3-containing proteins
   4068 (SH2D1A)
SSDB
Motif
Pfam: SH2
Other DBs
NCBI-GeneID: 4068
NCBI-ProteinID: NP_002342
OMIM: 300490
HGNC: 10820
Ensembl: ENSG00000183918
Vega: OTTHUMG00000022344
Pharos: O60880(Tbio)
UniProt: O60880
Structure
PDB: 

Position
Xq25
AA seq 128 aa
MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTE
TGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIRED
PDVCLKAP
NT seq 387 nt   +upstreamnt  +downstreamnt
atggacgcagtggctgtgtatcatggcaaaatcagcagggaaaccggcgagaagctcctg
cttgccactgggctggatggcagctatttgctgagggacagcgagagcgtgccaggcgtg
tactgcctatgtgtgctgtatcacggttacatttatacataccgagtgtcccagacagaa
acaggttcttggagtgctgagacagcacctggggtacataaaagatatttccggaaaata
aaaaatctcatttcagcatttcagaagccagatcaaggcattgtaatacctctgcagtat
ccagttgagaagaagtcctcagctagaagtacacaaggtactacagggataagagaagat
cctgatgtctgcctgaaagccccatga

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