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... See more...

Aliases for NAPB Gene

Aliases for NAPB Gene

  • NSF Attachment Protein Beta 2 3 5
  • N-Ethylmaleimide-Sensitive Factor Attachment Protein, Beta 2 3
  • Beta-Soluble NSF Attachment Protein 3 4
  • SNAPB 3 4
  • N-Ethylmaleimide-Sensitive Factor Attachment Protein Beta 4
  • Beta Soluble NSF Attachment Protein 2
  • SNAP-BETA 3
  • SNAP-Beta 4

External Ids for NAPB Gene

Previous GeneCards Identifiers for NAPB Gene

  • GC17U990129
  • GC20M023303
  • GC20M023350
  • GC20M023319
  • GC20M023355

Summaries for NAPB Gene

Entrez Gene Summary for NAPB 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]

GeneCards Summary for NAPB Gene

NAPB (NSF Attachment Protein Beta) is a Protein Coding gene. Diseases associated with NAPB include Amyotrophy, Hereditary Neuralgic and Neurodegeneration With Brain Iron Accumulation 6. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include syntaxin binding and soluble NSF attachment protein activity. An important paralog of this gene is NAPA.

UniProtKB/Swiss-Prot Summary for NAPB Gene

  • Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.

Gene Wiki entry for NAPB Gene

Additional gene information for NAPB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NAPB Gene

Genomics for NAPB Gene

GeneHancer (GH) Regulatory Elements for NAPB Gene

Promoters and enhancers for NAPB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J023419 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 518.9 +0.8 818 3.4 ZNF217 CTCF NRF1 POLR2G PHF8 SIX5 ZIC2 POLR2A ZBTB26 CUX1 NAPB HSALNG0129256 CSTL1
GH20J023409 Promoter 0.4 EPDnew 500.4 +11.7 11712 0.1 POLR2A NAPB CSTL1 ENSG00000234832 NXT1 HSALNG0129256 RF00001-192 RNA5SP479
GH20J023356 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 18.3 +61.3 61318 8.4 EP300 FOXK2 ZNF217 SIN3A TCF12 NRF1 MYC POLR2G USF1 SP1 GZF1 LINC01431 lnc-NAPB-6 NXT1 NAPB CSTL1
GH20J023348 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 17.9 +70.7 70740 4.4 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 NXT1 ENSG00000234832 NXT1-AS1 piR-54193 NAPB CSTL1
GH20J023366 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.8 +54.9 54863 1.3 SIN3A TOE1 TRIM22 ATF2 RAD51 CREB1 ZNF316 MAFF SRF MAFK HSALNG0129253 NAPB CSTL1 CD93 GZF1 THBD RNA5SP479 RF00001-192
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NAPB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NAPB

Top Transcription factor binding sites by QIAGEN in the NAPB gene promoter:
  • AREB6
  • ATF6
  • En-1
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RelA
  • RREB-1
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for NAPB Gene

Genomic Locations for NAPB Gene
chr20:23,374,519-23,421,519
(GRCh38/hg38)
Size:
47,001 bases
Orientation:
Minus strand
chr20:23,355,156-23,402,156
(GRCh37/hg19)
Size:
47,001 bases
Orientation:
Minus strand

Genomic View for NAPB Gene

Genes around NAPB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAPB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAPB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAPB Gene

Proteins for NAPB Gene

  • Protein details for NAPB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H115-SNAB_HUMAN
    Recommended name:
    Beta-soluble NSF attachment protein
    Protein Accession:
    Q9H115
    Secondary Accessions:
    • B4DK44
    • Q4G0M0
    • Q4G187
    • Q5JXF9
    • Q8N3C4

    Protein attributes for NAPB Gene

    Size:
    298 amino acids
    Molecular mass:
    33557 Da
    Quaternary structure:
    • Interacts with PRKCABP, and disrupts the interaction between GRIA2 and PRKCABP, leading to the internalization of GRIA2.

    Alternative splice isoforms for NAPB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAPB Gene

Post-translational modifications for NAPB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NAPB Gene

Domains & Families for NAPB Gene

Gene Families for NAPB Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NAPB Gene

Blocks:
  • NSF attachment protein signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NAPB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54102, highly similar to Beta-soluble NSF attachment protein (B4DGP9_HUMAN)
  • cDNA FLJ52551, highly similar to Beta-soluble NSF attachment protein (B4DK44_HUMAN)
  • N-ethylmaleimide-sensitive factor attachment protein beta (SNAB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H115

UniProtKB/Swiss-Prot:

SNAB_HUMAN :
  • Belongs to the SNAP family.
Family:
  • Belongs to the SNAP family.
genes like me logo Genes that share domains with NAPB: view

Function for NAPB Gene

Molecular function for NAPB Gene

UniProtKB/Swiss-Prot Function:
Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.

Phenotypes From GWAS Catalog for NAPB Gene

Gene Ontology (GO) - Molecular Function for NAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005483 soluble NSF attachment protein activity IBA 21873635
GO:0005515 protein binding IEA,IPI 21516116
GO:0019905 syntaxin binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with NAPB: view
genes like me logo Genes that share phenotypes with NAPB: view

Animal Models for NAPB Gene

MGI Knock Outs for NAPB:
  • Napb Napb<tm1Rhee>
  • Napb Napb<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for NAPB Gene

miRTarBase miRNAs that target NAPB

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAPB

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NAPB Gene

Localization for NAPB Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAPB Gene

Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAPB gene
Compartment Confidence
cytosol 3
cytoskeleton 1
nucleus 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005774 vacuolar membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0031201 SNARE complex IBA 21873635
GO:0045202 synapse IEA --
GO:0070044 synaptobrevin 2-SNAP-25-syntaxin-1a complex IBA,IEA 21873635
genes like me logo Genes that share ontologies with NAPB: view

Pathways & Interactions for NAPB Gene

genes like me logo Genes that share pathways with NAPB: view

Gene Ontology (GO) - Biological Process for NAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA,IBA 21873635
GO:0010807 regulation of synaptic vesicle priming IBA,IEA 21873635
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0035249 synaptic transmission, glutamatergic IEA,IBA 21873635
genes like me logo Genes that share ontologies with NAPB: view

No data available for SIGNOR curated interactions for NAPB Gene

Drugs & Compounds for NAPB Gene

No Compound Related Data Available

Transcripts for NAPB Gene

mRNA/cDNA for NAPB Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAPB

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAPB Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13a ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - -
SP6: - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - - - - - - - - -
SP10: - - - -
SP11: - - - - -
SP12: - - - - -
SP13: - -
SP14: -
SP15: - -
SP16:

ExUns: 13b · 13c · 13d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for NAPB Gene

GeneLoc Exon Structure for
NAPB

Expression for NAPB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NAPB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NAPB Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.9), Brain - Anterior cingulate cortex (BA24) (x6.4), and Brain - Cerebellar Hemisphere (x4.0).

Protein differential expression in normal tissues from HIPED for NAPB Gene

This gene is overexpressed in Brain (25.0), Frontal cortex (14.7), Retina (8.6), and Spinal cord (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NAPB Gene



Protein tissue co-expression partners for NAPB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NAPB

SOURCE GeneReport for Unigene cluster for NAPB Gene:

Hs.269471

Evidence on tissue expression from TISSUES for NAPB Gene

  • Nervous system(5)
  • Eye(2.3)
genes like me logo Genes that share expression patterns with NAPB: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NAPB Gene

Orthologs for NAPB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NAPB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAPB 31 30
  • 99.89 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NAPB 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NAPB 31 30
  • 93.85 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Napb 30
  • 92.06 (n)
mouse
(Mus musculus)
Mammalia Napb 17 31 30
  • 91.16 (n)
cow
(Bos Taurus)
Mammalia NAPB 31 30
  • 89.15 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves NAPB 31 30
  • 83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NAPB 31
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia napb 30
  • 83.33 (n)
Str.15567 30
zebrafish
(Danio rerio)
Actinopterygii NAPB (2 of 2) 31
  • 88 (a)
OneToMany
napba 31
  • 80 (a)
OneToMany
zgc:158643 30
  • 78.76 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.936 30
fruit fly
(Drosophila melanogaster)
Insecta Snap 31 32
  • 62 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D1014.3 32
  • 50 (a)
snap-1 31
  • 49 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC17 33 31
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2218 31
  • 59 (a)
OneToMany
Species where no ortholog for NAPB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NAPB Gene

ENSEMBL:
Gene Tree for NAPB (if available)
TreeFam:
Gene Tree for NAPB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NAPB: view image

Paralogs for NAPB Gene

Paralogs for NAPB Gene

(1) SIMAP similar genes for NAPB Gene using alignment to 3 proteins:

  • SNAB_HUMAN
  • B4DK44_HUMAN
  • Q4G0M0_HUMAN
genes like me logo Genes that share paralogs with NAPB: view

Variants for NAPB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NAPB Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
709378 Benign: not provided 23,421,338(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs193921124 Uncertain Significance: Malignant tumor of prostate 23,379,443(-) A/G SPLICE_DONOR_VARIANT
rs876661300 Uncertain Significance: not provided 23,390,028(-) G/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs6036399 - p.Ala61Thr

Additional dbSNP identifiers (rs#s) for NAPB Gene

Structural Variations from Database of Genomic Variants (DGV) for NAPB Gene

Variant ID Type Subtype PubMed ID
esv3575364 CNV gain 25503493
nsv1063655 CNV gain 25217958

Variation tolerance for NAPB Gene

Residual Variation Intolerance Score: 45.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAPB Gene

Human Gene Mutation Database (HGMD)
NAPB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAPB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAPB Gene

Disorders for NAPB Gene

MalaCards: The human disease database

(3) MalaCards diseases for NAPB Gene - From: OMIM and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search NAPB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NAPB

genes like me logo Genes that share disorders with NAPB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NAPB Gene

Publications for NAPB Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 54
  4. The AMPA receptor GluR2 C terminus can mediate a reversible, ATP-dependent interaction with NSF and alpha- and beta-SNAPs. (PMID: 9697855) Osten P … Ziff EB (Neuron 1998) 3 23 54
  5. SNAP family of NSF attachment proteins includes a brain-specific isoform. (PMID: 8455721) Whiteheart SW … Rothman JE (Nature 1993) 2 3 54

Products for NAPB Gene

Sources for NAPB Gene