XB-FEAT-5829802: Difference between revisions
imported>Xenbase gene generator No edit summary |
imported>Xenbase |
||
| Line 1: | Line 1: | ||
=sept5= | =sept5= | ||
This is the community wiki page for the gene ''sept5'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | This is the community wiki page for the gene ''sept5'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. | ||
=nomenclature changes= | |||
05.13.19 | |||
Human symbol has changed for genepage ID: 5829802 From sept5 to SEPTIN5 | |||
Human symbol has changed for Entrez Gene: 5413. From SEPT5 to SEPTIN5 | |||
=Summary from NCBI for human SEPTIN5= | |||
This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010] | |||
Latest revision as of 09:06, 15 May 2019
sept5
This is the community wiki page for the gene sept5 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.
nomenclature changes
05.13.19
Human symbol has changed for genepage ID: 5829802 From sept5 to SEPTIN5
Human symbol has changed for Entrez Gene: 5413. From SEPT5 to SEPTIN5
Summary from NCBI for human SEPTIN5
This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]