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STX16
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STX16
Syntaxin-16 (STX16) is a part of a protein family group called SNARE proteins (soluble N-ethylmaleimide-sensitive factor attachment proteins). SNARE proteins can generally be classified into two types: v-SNAREs(vesicle-SNAREs), which are embedded in the membranes of transport vesicles as they form, and t-SNAREs (target-SNAREs), which are located on the target membranes, such as those found at nerve terminals. STX16 is considered to be a t-SNARE, making it a key protein that makes membrane fusion happen.
Syntaxin-16 is a protein that in humans encoded by the STX16 gene., it found in Chromosome-20 (Chr 20: 58.65 – 58.68 Mb). It's composed of 325 amino acids. The STX16 gene can be expressed in many different isoforms; It has 23 different splice variants. It also has a lot of evolutionary relatives, including 197 orthologs across species, indicating strong evolutionary conservation. Additionally, it has 12 paralogs within the same genome, and it is related to 2 different phenotypes.
STX16 is found in Chromosome 2 (Chr 2: 173.92 – 173.94 Mb)and encodes a protein that is 326 amino acids long. The STX16 gene can be expressed in many different isoforms; it has 5 different splice variants. It also has many related versions in other species, 197 orthologs across species, indicating strong evolutionary conservation. Additionally, it has 12 paralogs within the genome, and it is related to 29 different phenotypes.
Homo Sapiens (Humans)
1.It has been associated with pseudohypoparathyroidism type 1B. Losing this gene causes loss of methylation at GNAS1 exon A/B.
Studies have shown that deletions affecting STX16 (syntaxin-16) are linked to Pseudohypoparathyroidism type Ib (PHP-1B). In particular, a “microdeletion” in the STX16 region, either a ~3-kilobase or a novel ~4.4-kilobase deletion which are found in many families with the autosomal dominant form of PHP-1B. People inheriting the deletion from their mother show a loss of DNA methylation specifically at GNAS (guanine nucleotide-binding protein, alpha stimulating) exon A/B, while other differentially methylated regions of GNAS remain unaffected. The loss of this methylation imprint is believed to disrupt the normal regulation of GNAS, particularly by reducing expression of the G protein α-subunit (Gsα) in hormone-responsive tissues such as the kidney, which in turn leads to the PTH (parathyroid hormone) resistance characteristic of PHP-1B.
In short, the deletion of STX16 disrupts a putative “imprinting control element” needed for correct GNAS methylation, and loss of methylation at exon A/B is the molecular hallmark linking STX16 deletions to PHP-1B.
2. STX16 has been shown to interact with TBC1D23.
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STX16 AI simulator
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STX16
Syntaxin-16 (STX16) is a part of a protein family group called SNARE proteins (soluble N-ethylmaleimide-sensitive factor attachment proteins). SNARE proteins can generally be classified into two types: v-SNAREs(vesicle-SNAREs), which are embedded in the membranes of transport vesicles as they form, and t-SNAREs (target-SNAREs), which are located on the target membranes, such as those found at nerve terminals. STX16 is considered to be a t-SNARE, making it a key protein that makes membrane fusion happen.
Syntaxin-16 is a protein that in humans encoded by the STX16 gene., it found in Chromosome-20 (Chr 20: 58.65 – 58.68 Mb). It's composed of 325 amino acids. The STX16 gene can be expressed in many different isoforms; It has 23 different splice variants. It also has a lot of evolutionary relatives, including 197 orthologs across species, indicating strong evolutionary conservation. Additionally, it has 12 paralogs within the same genome, and it is related to 2 different phenotypes.
STX16 is found in Chromosome 2 (Chr 2: 173.92 – 173.94 Mb)and encodes a protein that is 326 amino acids long. The STX16 gene can be expressed in many different isoforms; it has 5 different splice variants. It also has many related versions in other species, 197 orthologs across species, indicating strong evolutionary conservation. Additionally, it has 12 paralogs within the genome, and it is related to 29 different phenotypes.
Homo Sapiens (Humans)
1.It has been associated with pseudohypoparathyroidism type 1B. Losing this gene causes loss of methylation at GNAS1 exon A/B.
Studies have shown that deletions affecting STX16 (syntaxin-16) are linked to Pseudohypoparathyroidism type Ib (PHP-1B). In particular, a “microdeletion” in the STX16 region, either a ~3-kilobase or a novel ~4.4-kilobase deletion which are found in many families with the autosomal dominant form of PHP-1B. People inheriting the deletion from their mother show a loss of DNA methylation specifically at GNAS (guanine nucleotide-binding protein, alpha stimulating) exon A/B, while other differentially methylated regions of GNAS remain unaffected. The loss of this methylation imprint is believed to disrupt the normal regulation of GNAS, particularly by reducing expression of the G protein α-subunit (Gsα) in hormone-responsive tissues such as the kidney, which in turn leads to the PTH (parathyroid hormone) resistance characteristic of PHP-1B.
In short, the deletion of STX16 disrupts a putative “imprinting control element” needed for correct GNAS methylation, and loss of methylation at exon A/B is the molecular hallmark linking STX16 deletions to PHP-1B.
2. STX16 has been shown to interact with TBC1D23.
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