SPIB: Difference between revisions

From WikiMD's Wellness Encyclopedia

CSV import
 
CSV import
 
Line 1: Line 1:
'''SPIB''' is a [[gene]] that encodes the SPIB [[transcription factor]] in [[human]]s. It is a member of the E26 transformation-specific (ETS) family of transcription factors, which are characterized by the conserved ETS DNA-binding domain. SPIB is known to play a crucial role in [[immune system]] development and function, particularly in [[B cell]] maturation and [[antibody]] production.
{{Infobox gene
| name = SPIB
| image = <!-- Image removed -->
| caption = <!-- Caption removed -->
| HGNCid = 11254
| symbol = SPIB
| alt_symbols =
| EntrezGene = 6689
| OMIM = 601512
| RefSeq = NM_003120
| UniProt = Q01892
| chromosome = 19
| arm = q
| band = 13.3
| locus =
}}
 
'''SPIB''' is a [[gene]] that encodes a [[transcription factor]] belonging to the [[ETS family]] of transcription factors. This protein is involved in the regulation of [[gene expression]] in [[B cells]] and [[plasmacytoid dendritic cells]].


== Function ==
== Function ==
The SPIB protein functions as a transcriptional activator that binds to the [[PU-box]], a purine-rich DNA sequence (5'-GAGGAA-3') found in the [[promoter]] regions of target genes. It plays a crucial role in the development and function of [[immune system]] cells, particularly in the differentiation of [[B lymphocytes]] and the development of [[plasmacytoid dendritic cells]].


The SPIB gene encodes a protein that functions as a transcriptional activator. It binds to the purine-rich PU-box, a common segment in the promoters of genes involved in B cell differentiation. This binding activity suggests that SPIB plays a key role in the regulation of genes necessary for B cell development and function.
== Clinical significance ==
Mutations or dysregulation of the SPIB gene have been implicated in various [[immune disorders]] and [[cancers]], including [[lymphomas]] and [[leukemias]]. Understanding the role of SPIB in these conditions can provide insights into potential therapeutic targets.


== Clinical Significance ==
== Interactions ==
SPIB interacts with other proteins and transcription factors to regulate gene expression. It is known to interact with [[IRF4]] and [[IRF8]], which are also involved in the regulation of immune cell differentiation.


Mutations in the SPIB gene have been associated with a variety of [[immune disorders]], including [[immunodeficiency]] and [[autoimmune diseases]]. For example, a rare mutation in SPIB has been linked to a severe form of [[common variable immunodeficiency]] (CVID), a disorder characterized by low levels of most or all of the immunoglobulin (Ig) classes.
== See also ==
 
* [[Transcription factor]]
== Research ==
* [[ETS family]]
 
Research into the SPIB gene and its encoded protein continues to provide valuable insights into the workings of the immune system. Understanding the role of SPIB in B cell development and function may lead to new treatments for immune disorders.
 
[[File:SPIB gene location on human chromosome 19.png|thumb|right|300px|Location of the SPIB gene on human chromosome 19.]]
 
== See Also ==
 
* [[ETS transcription factor family]]
* [[B cell]]
* [[B cell]]
* [[Transcription factor]]
* [[Plasmacytoid dendritic cell]]
* [[Immunodeficiency]]
* [[Autoimmune diseases]]


== References ==
== References ==
{{Reflist}}


<references />
== External links ==
 
* [https://www.ncbi.nlm.nih.gov/gene/6689 SPIB gene - NCBI]
{{medicine-stub}}
* [https://www.uniprot.org/uniprot/Q01892 SPIB protein - UniProt]


[[Category:Genes]]
[[Category:Genes on human chromosome 19]]
[[Category:Transcription factors]]
[[Category:Transcription factors]]
[[Category:Immunology]]
[[Category:Immune system]]

Latest revision as of 20:27, 30 December 2024

SPIB
Symbol SPIB
HGNC ID 11254
Alternative symbols
Entrez Gene 6689
OMIM 601512
RefSeq NM_003120
UniProt Q01892
Chromosome 19q13.3
Locus supplementary data


SPIB is a gene that encodes a transcription factor belonging to the ETS family of transcription factors. This protein is involved in the regulation of gene expression in B cells and plasmacytoid dendritic cells.

Function[edit]

The SPIB protein functions as a transcriptional activator that binds to the PU-box, a purine-rich DNA sequence (5'-GAGGAA-3') found in the promoter regions of target genes. It plays a crucial role in the development and function of immune system cells, particularly in the differentiation of B lymphocytes and the development of plasmacytoid dendritic cells.

Clinical significance[edit]

Mutations or dysregulation of the SPIB gene have been implicated in various immune disorders and cancers, including lymphomas and leukemias. Understanding the role of SPIB in these conditions can provide insights into potential therapeutic targets.

Interactions[edit]

SPIB interacts with other proteins and transcription factors to regulate gene expression. It is known to interact with IRF4 and IRF8, which are also involved in the regulation of immune cell differentiation.

See also[edit]

References[edit]

<references group="" responsive="1"></references>


External links[edit]