Seroatlas · Human Serome Atlas

NSF

Vesicle-fusing ATPase

Also known as: NSF_HUMAN, SEC18, SKD2

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

Protein identityUniProt · HPA

UniProt accession
P46459
Gene
NSF
Ensembl
ENSG00000073969
Chromosome
17
Canonical length
744 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Golgi apparatus,Cytosol,Acrosome,Equatorial segment,Mid piece,Principal piece,End piece
Quaternary structure
Homohexamer

OverviewNCBI Gene

Enables PDZ domain binding activity and ionotropic glutamate receptor binding activity. Involved in intracellular protein transport; positive regulation of protein catabolic process; and positive regulation of receptor recycling. Located in Golgi apparatus; cytosol; and plasma membrane. Implicated in developmental and epileptic encephalopathy 96. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

744 residues, UniProt reviewed canonical sequence.

>P46459|NSF
     1  MAGRSMQAAR CPTDELSLTN CAVVNEKDFQ SGQHVIVRTS PNHRYTFTLK THPSVVPGSI
    61  AFSLPQRKWA GLSIGQEIEV SLYTFDKAKQ CIGTMTIEID FLQKKSIDSN PYDTDKMAAE
   121  FIQQFNNQAF SVGQQLVFSF NEKLFGLLVK DIEAMDPSIL KGEPATGKRQ KIEVGLVVGN
   181  SQVAFEKAEN SSLNLIGKAK TKENRQSIIN PDWNFEKMGI GGLDKEFSDI FRRAFASRVF
   241  PPEIVEQMGC KHVKGILLYG PPGCGKTLLA RQIGKMLNAR EPKVVNGPEI LNKYVGESEA
   301  NIRKLFADAE EEQRRLGANS GLHIIIFDEI DAICKQRGSM AGSTGVHDTV VNQLLSKIDG
   361  VEQLNNILVI GMTNRPDLID EALLRPGRLE VKMEIGLPDE KGRLQILHIH TARMRGHQLL
   421  SADVDIKELA VETKNFSGAE LEGLVRAAQS TAMNRHIKAS TKVEVDMEKA ESLQVTRGDF
   481  LASLENDIKP AFGTNQEDYA SYIMNGIIKW GDPVTRVLDD GELLVQQTKN SDRTPLVSVL
   541  LEGPPHSGKT ALAAKIAEES NFPFIKICSP DKMIGFSETA KCQAMKKIFD DAYKSQLSCV
   601  VVDDIERLLD YVPIGPRFSN LVLQALLVLL KKAPPQGRKL LIIGTTSRKD VLQEMEMLNA
   661  FSTTIHVPNI ATGEQLLEAL ELLGNFKDKE RTTIAQQVKG KKVWIGIKKL LMLIEMSLQM
   721  DPEYRVRKFL ALLREEGASP LDFD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NSF 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)
0.28
Highest tissue expression
145 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 145 nTPM
  • basal ganglia: 105 nTPM
  • cerebellum: 83 nTPM
  • hypothalamus: 83 nTPM
  • hippocampal formation: 78 nTPM
  • midbrain: 64 nTPM

Single-cell type

  • brain inhibitory neurons: 185 nCPM
  • other brain neurons: 157 nCPM
  • papillary tip epithelial cells: 151 nCPM
  • brain excitatory neurons: 150 nCPM
  • renal collecting duct principal cells: 147 nCPM
  • distal convoluted tubule cells: 143 nCPM

Immune cell

  • myeloid DC: 19 nTPM
  • basophil: 17 nTPM
  • classical monocyte: 17 nTPM
  • non-classical monocyte: 16 nTPM
  • T-reg: 14 nTPM
  • intermediate monocyte: 14 nTPM

Brain region

  • cerebral cortex: 189 nTPM
  • hypothalamus: 110 nTPM
  • pons: 86 nTPM
  • white matter: 69 nTPM
  • hippocampal formation: 69 nTPM
  • basal ganglia: 68 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NSF.

Disease | AllUniProt

Conditions NSF is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 96 (DEE96) MIM:619340

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 66 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Developmental and epileptic encephalopathy 96

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)
0.6
gnomAD pLI
0.02
gnomAD missense Z
2.58
DepMap mean gene effect
-2.16
DepMap dependency class
pan

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

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

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