SEPTIN12
Septin-12
Also known as: FLJ25410, SEP12_HUMAN, SEPT12
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IYM1
- Gene
- SEPTIN12
- Ensembl
- ENSG00000140623
- Chromosome
- 16
- Canonical length
- 358 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Microtubules,Annulus
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
358 residues, UniProt reviewed canonical sequence.
>Q8IYM1|SEPTIN12
1 MDPLRRSPSP CLSSQPSSPS TPPCEMLGPV GIEAVLDQLK IKAMKMGFEF NIMVVGQSGL
61 GKSTMVNTLF KSKVWKSNPP GLGVPTPQTL QLHSLTHVIE EKGVKLKLTV TDTPGFGDQI
121 NNDNCWDPIL GYINEQYEQY LQEEILITRQ RHIPDTRVHC CVYFVPPTGH CLRPLDIEFL
181 QRLCRTVNVV PVIARADSLT MEEREAFRRR IQQNLRTHCI DVYPQMCFDE DINDKILNSK
241 LRDRIPFAVV GADQEHLVNG RCVLGRKTKW GIIEVENMAH CEFPLLRDLL IRSHLQDLKD
301 ITHNIHYENY RVIRLNESHL LPRGPGWVNL APASPGQLTT PRTFKVCRGA HDDSDDEFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SEPTIN12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 104 nTPM
Expression across tissuesHPA
Tissue
- testis: 104 nTPM
- cerebellum: 2.8 nTPM
- spinal cord: 0.8 nTPM
- hippocampal formation: 0.5 nTPM
- retina: 0.5 nTPM
- midbrain: 0.4 nTPM
Single-cell type
- late primary spermatocytes: 468 nCPM
- early spermatids: 316 nCPM
- late spermatids: 155 nCPM
- early primary spermatocytes: 19 nCPM
- sertoli cells: 3.4 nCPM
- oligodendrocytes: 2.1 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 2.7 nTPM
- cerebral cortex: 1.4 nTPM
- pons: 1.4 nTPM
- white matter: 1.2 nTPM
- basal ganglia: 1.1 nTPM
- medulla oblongata: 1.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SEPTIN12.
Disease | AllUniProt
Conditions SEPTIN12 is implicated in, by any mechanism.
- Spermatogenic failure 10 (SPGF10) MIM:614822
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.88
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell differentiation
- cytoskeleton-dependent cytokinesis
- intracellular protein localization
- spermatogenesis
Molecular functions
- GDP binding
- GTP binding
- GTPase activity
- identical protein binding
- molecular adaptor activity
- phosphatidylinositol binding
- protein homodimerization activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SEPTIN12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SEPTIN12 as an antibody target. Whether an autoantibody or antibody against SEPTIN12 could matter depends on whether native SEPTIN12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SEPTIN12 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SEPTIN12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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