SALL1
Encyclopedia
Sal-like 1, also known as SALL1, is a protein
which in humans is encoded by the SALL1 gene
. As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila
.
transcriptional repressor and may be part of the NuRD histone deacetylase
(HDAC) complex.
(BOR). Two transcript variants encoding different isoforms have been found for this gene.
with TERF1
and UBE2I
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the SALL1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila
Drosophila
Drosophila is a genus of small flies, belonging to the family Drosophilidae, whose members are often called "fruit flies" or more appropriately pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species to linger around overripe or rotting fruit...
.
Function
The protein encoded by this gene is a zinc fingerZinc finger
Zinc fingers are small protein structural motifs that can coordinate one or more zinc ions to help stabilize their folds. They can be classified into several different structural families and typically function as interaction modules that bind DNA, RNA, proteins, or small molecules...
transcriptional repressor and may be part of the NuRD histone deacetylase
Histone deacetylase
Histone deacetylases are a class of enzymes that remove acetyl groups from an ε-N-acetyl lysine amino acid on a histone. This is important because DNA is wrapped around histones, and DNA expression is regulated by acetylation and de-acetylation. Its action is opposite to that of histone...
(HDAC) complex.
Clinical significance
Defects in this gene are a cause of Townes–Brocks syndrome (TBS) as well as branchio-oto-renal syndromeBranchio-oto-renal syndrome
Branchio-oto-renal syndrome , also known as branciootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck...
(BOR). Two transcript variants encoding different isoforms have been found for this gene.
Interactions
SALL1 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with TERF1
TERF1
Telomeric repeat-binding factor 1 is a protein that in humans is encoded by the TERF1 gene.-Interactions:TERF1 has been shown to interact with SALL1, MAPRE1, NME1, TNKS2, Ataxia telangiectasia mutated, TINF2, TNKS, PINX1 and Abl gene....
and UBE2I
UBE2I
SUMO-conjugating enzyme UBC9 is a protein that in humans is encoded by the UBE2I gene.-Interactions:UBE2I has been shown to interact with WT1, TOP1, RAD51, Activating transcription factor 2, PIAS1, SALL1, FHIT, RANBP2, Protein inhibitor of activated STAT2, DNMT3A, DNMT3B, Small ubiquitin-related...
.