Human Gene SEPTIN12 (ENST00000268231.13) from GENCODE V44
Description: Homo sapiens septin 12 (SEPTIN12), transcript variant 2, mRNA. (from RefSeq NM_144605) RefSeq Summary (NM_144605): This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. Gencode Transcript: ENST00000268231.13 Gencode Gene: ENSG00000140623.14 Transcript (Including UTRs) Position: hg38 chr16:4,777,606-4,788,345 Size: 10,740 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chr16:4,777,797-4,787,645 Size: 9,849 Coding Exon Count: 9
ID:SEP12_HUMAN DESCRIPTION: RecName: Full=Septin-12; FUNCTION: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). SUBUNIT: Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation (By similarity). Interacts with SEPT6 and SEPT11. Forms homodimers. INTERACTION: Q14141:SEPT6; NbExp=3; IntAct=EBI-2585067, EBI-745901; SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Cell projection, cilium, flagellum. Note=At interphase, forms a filamentous structure in the cytoplasm. During anaphase, translocates to the central spindle region and to the midbody during cytokinesis. Found in the sperm annulus. TISSUE SPECIFICITY: Widely expressed. DISEASE: Defects in SEPT12 are the cause of spermatogenic failure 10 (SPGF10) [MIM:614822]. An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. SIMILARITY: Belongs to the septin family. SEQUENCE CAUTION: Sequence=AAH24017.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IYM1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
