Seroatlas · Human Serome Atlas

SEPTIN4

Septin-4

Also known as: ARTS, C17orf47, CE5B3, FLJ40121, H5, hCDCREL-2, hucep-7, MART, PNUTL2, SEPT4, SEPT4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O43236
Gene
SEPTIN4
Ensembl
ENSG00000108387
Chromosome
17
Canonical length
478 aa
Protein class
Predicted intracellular proteins
Subcellular location
Annulus

OverviewNCBI Gene

This gene is a member of the septin 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 highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]

Canonical amino-acid sequenceUniProt

478 residues, UniProt reviewed canonical sequence.

>O43236|SEPTIN4
     1  MDRSLGWQGN SVPEDRTEAG IKRFLEDTTD DGELSKFVKD FSGNASCHPP EAKTWASRPQ
    61  VPEPRPQAPD LYDDDLEFRP PSRPQSSDNQ QYFCAPAPLS PSARPRSPWG KLDPYDSSED
   121  DKEYVGFATL PNQVHRKSVK KGFDFTLMVA GESGLGKSTL VNSLFLTDLY RDRKLLGAEE
   181  RIMQTVEITK HAVDIEEKGV RLRLTIVDTP GFGDAVNNTE CWKPVAEYID QQFEQYFRDE
   241  SGLNRKNIQD NRVHCCLYFI SPFGHGLRPL DVEFMKALHQ RVNIVPILAK ADTLTPPEVD
   301  HKKRKIREEI EHFGIKIYQF PDCDSDEDED FKLQDQALKE SIPFAVIGSN TVVEARGRRV
   361  RGRLYPWGIV EVENPGHCDF VKLRTMLVRT HMQDLKDVTR ETHYENYRAQ CIQSMTRLVV
   421  KERNRNKLTR ESGTDFPIPA VPPGTDPETE KLIREKDEEL RRMQEMLHKI QKQMKENY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SEPTIN4 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)
0.45
Highest tissue expression
1,097 nTPM

Expression across tissuesHPA

Tissue

  • midbrain: 1,097 nTPM
  • spinal cord: 983 nTPM
  • basal ganglia: 863 nTPM
  • hippocampal formation: 833 nTPM
  • amygdala: 712 nTPM
  • hypothalamus: 549 nTPM

Single-cell type

  • retinal horizontal cells: 1,098 nCPM
  • bergmann glia: 937 nCPM
  • oligodendrocytes: 275 nCPM
  • cone photoreceptor cells: 248 nCPM
  • rod photoreceptor cells: 174 nCPM
  • late spermatids: 120 nCPM

Immune cell

  • gdT-cell: 4.9 nTPM
  • myeloid DC: 3.7 nTPM
  • classical monocyte: 3.6 nTPM
  • total PBMC: 3.6 nTPM
  • neutrophil: 1.9 nTPM
  • naive CD4 T-cell: 1.8 nTPM

Brain region

  • white matter: 1,043 nTPM
  • basal ganglia: 909 nTPM
  • thalamus: 732 nTPM
  • midbrain: 693 nTPM
  • cerebral cortex: 622 nTPM
  • medulla oblongata: 619 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SEPTIN4.

Disease | AllUniProt

Conditions SEPTIN4 is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 102 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spermatogenic failure 99

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)
0.83
gnomAD pLI
0
DepMap mean gene effect
-0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 SEPTIN4 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 SEPTIN4 as an antibody target. Whether an autoantibody or antibody against SEPTIN4 could matter depends on whether native SEPTIN4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SEPTIN4 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 SEPTIN4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SEPTIN4. 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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