NAPB
Beta-soluble NSF attachment protein
Also known as: SNAB_HUMAN, SNAP-BETA, SNAPB
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H115
- Gene
- NAPB
- Ensembl
- ENSG00000125814
- Chromosome
- 20
- Canonical length
- 298 aa
- Protein class
- Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. This gene encodes the SNAP beta isoform which has been shown to be preferentially expressed in brain tissue. The encoded protein also interacts with the GluR2 α-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptor subunit C-terminus and may play a role as a chaperone in the molecular processing of the AMPA receptor. [provided by RefSeq, Mar 2017]
Canonical amino-acid sequenceUniProt
298 residues, UniProt reviewed canonical sequence.
>Q9H115|NAPB
1 MDNAGKEREA VQLMAEAEKR VKASHSFLRG LFGGNTRIEE ACEMYTRAAN MFKMAKNWSA
61 AGNAFCQAAK LHMQLQSKHD SATSFVDAGN AYKKADPQEA INCLNAAIDI YTDMGRFTIA
121 AKHHITIAEI YETELVDIEK AIAHYEQSAD YYKGEESNSS ANKCLLKVAA YAAQLEQYQK
181 AIEIYEQVGA NTMDNPLLKY SAKDYFFKAA LCHFIVDELN AKLALEKYEE MFPAFTDSRE
241 CKLLKKLLEA HEEQNSEAYT EAVKEFDSIS RLDQWLTTML LRIKKSIQGD GEGDGDLKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NAPB 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
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 190 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 190 nTPM
- cerebellum: 150 nTPM
- retina: 143 nTPM
- amygdala: 106 nTPM
- hypothalamus: 103 nTPM
- hippocampal formation: 97 nTPM
Single-cell type
- choroid plexus epithelial cells: 168 nCPM
- retinal bipolar cells: 167 nCPM
- sertoli cells: 106 nCPM
- retinal amacrine cells: 98 nCPM
- cone photoreceptor cells: 97 nCPM
- late spermatids: 97 nCPM
Immune cell
- basophil: 2.5 nTPM
- gdT-cell: 1.9 nTPM
- naive B-cell: 1.2 nTPM
- naive CD8 T-cell: 1.2 nTPM
- T-reg: 1 nTPM
- memory CD8 T-cell: 0.9 nTPM
Brain region
- cerebral cortex: 290 nTPM
- hypothalamus: 225 nTPM
- pons: 216 nTPM
- basal ganglia: 213 nTPM
- white matter: 198 nTPM
- hippocampal formation: 170 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NAPB.
Disease | AllUniProt
Conditions NAPB is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 107 (DEE107) MIM:620033
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 52 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy-107
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)
- 0.58
- gnomAD pLI
- 0.11
- gnomAD missense Z
- 1.6
- DepMap mean gene effect
- 0.11
- DepMap dependency class
- none
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
- intracellular protein transport
- regulation of synaptic vesicle priming
- SNARE complex disassembly
- synaptic transmission, glutamatergic
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NAPB 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 NAPB as an antibody target. Whether an autoantibody or antibody against NAPB could matter depends on whether native NAPB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NAPB 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 NAPB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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