SEPTIN6
Septin-6
Also known as: KIAA0128, MGC16619, MGC20339, SEP2, SEPT2, SEPT6, SEPT6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14141
- Gene
- SEPTIN6
- Ensembl
- ENSG00000125354
- Chromosome
- X
- Canonical length
- 434 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Primary cilium,Cytosol,Mid piece,Principal piece
OverviewNCBI Gene
This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
434 residues, UniProt reviewed canonical sequence.
>Q14141|SEPTIN6
1 MAATDIARQV GEGCRTVPLA GHVGFDSLPD QLVNKSVSQG FCFNILCVGE TGLGKSTLMD
61 TLFNTKFEGE PATHTQPGVQ LQSNTYDLQE SNVRLKLTIV STVGFGDQIN KEDSYKPIVE
121 FIDAQFEAYL QEELKIRRVL HTYHDSRIHV CLYFIAPTGH SLKSLDLVTM KKLDSKVNII
181 PIIAKADAIS KSELTKFKIK ITSELVSNGV QIYQFPTDDE SVAEINGTMN AHLPFAVIGS
241 TEELKIGNKM MRARQYPWGT VQVENEAHCD FVKLREMLIR VNMEDLREQT HTRHYELYRR
301 CKLEEMGFKD TDPDSKPFSL QETYEAKRNE FLGELQKKEE EMRQMFVQRV KEKEAELKEA
361 EKELHEKFDR LKKLHQDEKK KLEDKKKSLD DEVNAFKQRK TAAELLQSQG SQAGGSQTLK
421 RDKEKKNNPW LCTELocalizationUniProt · AlphaFold · HPA
Whether an antibody against SEPTIN6 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)
- 0.38
- Highest tissue expression
- 216 nTPM
Expression across tissuesHPA
Tissue
- thymus: 216 nTPM
- lymph node: 112 nTPM
- tonsil: 97 nTPM
- adrenal gland: 70 nTPM
- appendix: 63 nTPM
- spleen: 58 nTPM
Single-cell type
- thymocytes: 522 nCPM
- sertoli cells: 477 nCPM
- hematopoietic stem cells: 396 nCPM
- t-cells: 343 nCPM
- innate lymphoid cells: 313 nCPM
- platelets: 304 nCPM
Immune cell
- T-reg: 113 nTPM
- NK-cell: 82 nTPM
- naive CD4 T-cell: 80 nTPM
- memory CD4 T-cell: 76 nTPM
- naive CD8 T-cell: 70 nTPM
- memory CD8 T-cell: 69 nTPM
Brain region
- pons: 45 nTPM
- hypothalamus: 42 nTPM
- thalamus: 41 nTPM
- medulla oblongata: 36 nTPM
- midbrain: 36 nTPM
- cerebellum: 33 nTPM
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)
- 0.5
- gnomAD pLI
- 0.29
- DepMap mean gene effect
- -0.01
- 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
- mitotic cytokinesis
- spermatogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SEPTIN6 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 SEPTIN6 as an antibody target. Whether an autoantibody or antibody against SEPTIN6 could matter depends on whether native SEPTIN6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SEPTIN6 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 SEPTIN6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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