SH2 domain–containing protein 1A is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''SH2D1A''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
It is often called SLAM-associated protein (symbol SAP), where "SLAM" refers to
signaling lymphocytic activation molecules. 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 bind to phosphorylated tyrosine residues on other proteins, ...
–containing molecule (part of
family of such molecules that plays a role in SLAM
signaling
A signal is both the process and the result of transmission of data over some media accomplished by embedding some variation. Signals are important in multiple subject fields including signal processing, information theory and biology.
...
. A putative function is as an adaptor for
Fyn
Proto-oncogene tyrosine-protein kinase Fyn (p59-FYN, Slk, Syn, MGC45350, Gene ID 2534) is an enzyme that in humans is encoded by the ''FYN'' gene.
Fyn is a 59-kDa member of the Src family of kinases typically associated with T-cell and neurona ...
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, ...
of it is associated with
X-linked lymphoproliferative disease. At least 32 disease-causing mutations in this gene have been discovered.
Interactions
SH2D1A has been shown to
interact with:
*
CD84,
[
* ]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
Proto-oncogene tyrosine-protein kinase Fyn (p59-FYN, Slk, Syn, MGC45350, Gene ID 2534) is an enzyme that in humans is encoded by the ''FYN'' gene.
Fyn is a 59-kDa member of the Src family of kinases typically associated with T-cell and neurona ...
,[ and
* SLAMF1.]
References
Further reading
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