Seroatlas · Human Serome Atlas

SEPTIN9

Septin-9

Also known as: AF17q25, KIAA0991, MSF, MSF1, PNUTL4, SEPT9, SEPT9_HUMAN, SeptD1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UHD8
Gene
SEPTIN9
Ensembl
ENSG00000184640
Chromosome
17
Canonical length
586 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Actin filaments,Microtubules,Cytokinetic bridge,Primary cilium

OverviewNCBI Gene

This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

586 residues, UniProt reviewed canonical sequence.

>Q9UHD8|SEPTIN9
     1  MKKSYSGGTR TSSGRLRRLG DSSGPALKRS FEVEEVETPN STPPRRVQTP LLRATVASST
    61  QKFQDLGVKN SEPSARHVDS LSQRSPKASL RRVELSGPKA AEPVSRRTEL SIDISSKQVE
   121  NAGAIGPSRF GLKRAEVLGH KTPEPAPRRT EITIVKPQES AHRRMEPPAS KVPEVPTAPA
   181  TDAAPKRVEI QMPKPAEAPT APSPAQTLEN SEPAPVSQLQ SRLEPKPQPP VAEATPRSQE
   241  ATEAAPSCVG DMADTPRDAG LKQAPASRNE KAPVDFGYVG IDSILEQMRR KAMKQGFEFN
   301  IMVVGQSGLG KSTLINTLFK SKISRKSVQP TSEERIPKTI EIKSITHDIE EKGVRMKLTV
   361  IDTPGFGDHI NNENCWQPIM KFINDQYEKY LQEEVNINRK KRIPDTRVHC CLYFIPATGH
   421  SLRPLDIEFM KRLSKVVNIV PVIAKADTLT LEERVHFKQR ITADLLSNGI DVYPQKEFDE
   481  DSEDRLVNEK FREMIPFAVV GSDHEYQVNG KRILGRKTKW GTIEVENTTH CEFAYLRDLL
   541  IRTHMQNIKD ITSSIHFEAY RVKRLNEGSS AMANGMEEKE PEAPEM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SEPTIN9 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)
0.51
Highest tissue expression
242 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 242 nTPM
  • lymph node: 209 nTPM
  • spleen: 144 nTPM
  • tonsil: 142 nTPM
  • colon: 142 nTPM
  • appendix: 140 nTPM

Single-cell type

  • urothelial cells: 518 nCPM
  • renal collecting duct principal cells: 450 nCPM
  • papillary tip epithelial cells: 439 nCPM
  • salivary basal cells: 395 nCPM
  • salivary duct cells: 360 nCPM
  • respiratory basal cells: 332 nCPM

Immune cell

  • non-classical monocyte: 56 nTPM
  • intermediate monocyte: 46 nTPM
  • plasmacytoid DC: 39 nTPM
  • T-reg: 32 nTPM
  • eosinophil: 31 nTPM
  • naive CD4 T-cell: 30 nTPM

Brain region

  • medulla oblongata: 222 nTPM
  • cerebellum: 153 nTPM
  • cerebral cortex: 143 nTPM
  • white matter: 135 nTPM
  • hypothalamus: 131 nTPM
  • spinal cord: 130 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SEPTIN9.

Disease | AllUniProt

Conditions SEPTIN9 is implicated in, by any mechanism.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 786 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.25
gnomAD pLI
1
DepMap mean gene effect
-0.21
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SEPTIN9 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 SEPTIN9 as an antibody target. Whether an autoantibody or antibody against SEPTIN9 could matter depends on whether native SEPTIN9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SEPTIN9 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 SEPTIN9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SEPTIN9. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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