X-linked lymphoproliferative disease (Duncan disease)

Gene Information

Names

HUGO name: SH2D1A

Alias(es):

  • DSHP
  • EBVS
  • IMD5
  • LYP
  • MTCP1
  • SAP
  • XLP
  • XLPD
  • SH2 domain protein 1A
  • SLAM-associated protein
  • T cell signal transduction molecule SAP
  • Duncan's disease SH2-protein

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein 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.

Subcellular location:

Cytoplasmic (potential).

Alternative products:

6 isoforms; a, b, c, d, e and f; are produced by alternative splicing.

Structures (PDB)

1D1Z Crystal Structure Of The Xlp Protein Sap

Domains

Sh2 domain: 6-104

    Expression

    Expression pattern for human

    Tissue Expression (%) Clones
    human spinal cord 62.60 1:488
    thymus, pooled 19.28 2:3169
    lymph, T-cell 7.19 2:8503
    blood 2.42 1:12646
    uterus, epithelium 2.31 1:13207
    pool, lung+testis+B-cell 2.19 4:55714
    lung 0.98 5:155782
    pool, melanocyte+heart+uterus 0.93 1:32944
    germ cell, pooled 0.85 1:35870
    unclassified 0.59 1:51898