SH2 domain–containing protein 1A is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''SH2D1A''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
It is often called SLAM-associated protein (symbol SAP), where "SLAM" refers to
signaling lymphocytic activation molecule
Signaling lymphocytic activation molecule (SLAM) is a family of genes. Homophilic binding between SLAMs is involved in cell-to-cell adhesion during antigen presentation.
Signaling lymphocytic activation molecules are a CD2-related surface recep ...
s. It is a
SH2 domain
The SH2 (Src Homology 2) domain is a structurally conserved protein domain contained within the Src oncoprotein and in many other intracellular signal-transducing proteins. SH2 domains allow proteins containing those domains to dock to phosphory ...
–containing molecule (part of
family of such molecules that plays a role in SLAM
signaling
In signal processing, a signal is a function that conveys information about a phenomenon. Any quantity that can vary over space or time can be used as a signal to share messages between observers. The ''IEEE Transactions on Signal Processing'' ...
. A putative function is as an adaptor for
Fyn
Funen ( da, Fyn, ), with an area of , is the third-largest island of Denmark, after Zealand and Vendsyssel-Thy. It is the 165th-largest island in the world. It is located in the central part of the country and has a population of 469,947 as of ...
and competitor of
phosphatase
In biochemistry, a phosphatase is an enzyme that uses water to cleave a phosphoric acid Ester, monoester into a phosphate ion and an Alcohol (chemistry), alcohol. Because a phosphatase enzyme catalysis, catalyzes the hydrolysis of its Substrate ...
s, leading to modulation of SLAM family function. SAP has been implicated in
autoimmunity
In immunology, autoimmunity is the system of immune responses of an organism against its own healthy cells, tissues and other normal body constituents. Any disease resulting from this type of immune response is termed an "autoimmune disease". ...
,
and a
mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...
of it is associated with
X-linked lymphoproliferative disease
X-linked lymphoproliferative disease (also known as Duncan disease or Purtilo syndrome and abbreviated as XLP) is a lymphoproliferative disorder, usually caused by SH2DIA gene mutations in males. XLP-positive individuals experience immune system d ...
. At least 32 disease-causing mutations in this gene have been discovered.
Interactions
SH2D1A has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with:
*
CD84
CD84 (Cluster of Differentiation 84) is a human protein encoded by the gene.
Function
Members of the CD2 (see MIM 186990) subgroup of the Ig superfamily, such as CD84, have similar patterns of conserved disulfide bonds and function in adhesio ...
,
[
* ]DOK1
Docking protein 1 is a protein that in humans is encoded by the ''DOK1'' gene.
Function
Docking protein 1 is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the c ...
,FYN
Funen ( da, Fyn, ), with an area of , is the third-largest island of Denmark, after Zealand and Vendsyssel-Thy. It is the 165th-largest island in the world. It is located in the central part of the country and has a population of 469,947 as of ...
,[ and
* ]SLAMF1
Signaling lymphocytic activation molecule 1 is a protein that in humans is encoded by the ''SLAMF1'' gene. Recently SLAMF1 has also been designated CD150 (cluster of differentiation 150).
SLAMF1 belongs to the signaling lymphocytic activation mol ...
.
References
Further reading
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{{PDB Gallery, geneid=4068