Seroatlas · Human Serome Atlas

SEPTIN5

Septin-5

Also known as: H5, HCDCREL-1, PNUTL1, SEPT5, SEPT5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q99719
Gene
SEPTIN5
Ensembl
ENSG00000184702
Chromosome
22
Canonical length
369 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm,Actin filaments,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

369 residues, UniProt reviewed canonical sequence.

>Q99719|SEPTIN5
     1  MSTGLRYKSK LATPEDKQDI DKQYVGFATL PNQVHRKSVK KGFDFTLMVA GESGLGKSTL
    61  VHSLFLTDLY KDRKLLSAEE RISQTVEILK HTVDIEEKGV KLKLTIVDTP GFGDAVNNTE
   121  CWKPITDYVD QQFEQYFRDE SGLNRKNIQD NRVHCCLYFI SPFGHGLRPV DVGFMKALHE
   181  KVNIVPLIAK ADCLVPSEIR KLKERIREEI DKFGIHVYQF PECDSDEDED FKQQDRELKE
   241  SAPFAVIGSN TVVEAKGQRV RGRLYPWGIV EVENQAHCDF VKLRNMLIRT HMHDLKDVTC
   301  DVHYENYRAH CIQQMTSKLT QDSRMESPIP ILPLPTPDAE TEKLIRMKDE ELRRMQEMLQ
   361  RMKQQMQDQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SEPTIN5 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)
0.37
Highest tissue expression
531 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 531 nTPM
  • amygdala: 364 nTPM
  • basal ganglia: 349 nTPM
  • hippocampal formation: 332 nTPM
  • cerebellum: 198 nTPM
  • heart muscle: 149 nTPM

Single-cell type

  • choroid plexus epithelial cells: 45 nCPM
  • brain excitatory neurons: 42 nCPM
  • brain inhibitory neurons: 37 nCPM
  • late spermatids: 30 nCPM
  • other brain neurons: 26 nCPM
  • ependymal cells: 22 nCPM

Immune cell

  • eosinophil: 16 nTPM
  • total PBMC: 6 nTPM
  • neutrophil: 5.8 nTPM
  • plasmacytoid DC: 0.3 nTPM
  • naive CD4 T-cell: 0.2 nTPM
  • classical monocyte: 0.1 nTPM

Brain region

  • cerebral cortex: 587 nTPM
  • hippocampal formation: 452 nTPM
  • basal ganglia: 401 nTPM
  • white matter: 365 nTPM
  • amygdala: 341 nTPM
  • thalamus: 178 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)
0.36
gnomAD pLI
0.93
DepMap mean gene effect
-0.18
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 SEPTIN5 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 SEPTIN5 as an antibody target. Whether an autoantibody or antibody against SEPTIN5 could matter depends on whether native SEPTIN5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SEPTIN5 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 SEPTIN5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SEPTIN5. 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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