Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NAPB Gene

Aliases for NAPB Gene

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

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 Neurodegeneration With Brain Iron Accumulation 6. Among its related pathways are Intra-Golgi traffic and Vesicle-mediated transport. 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 for NAPB Gene

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

Gene Wiki entry for NAPB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAPB Gene

Genomics for NAPB Gene

Regulatory Elements for NAPB Gene

Enhancers for NAPB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G023366 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.8 +54.9 54863 1.3 HDAC1 ATF1 AGO1 TCF12 RELB PAF1 JUNB USF2 TBX21 POLR2H NAPB CSTL1 CD93 GZF1 THBD RNA5SP479 GC20M023381
GH20G023356 1.4 ENCODE dbSUPER 18.3 +61.4 61393 7.6 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NAPB CSTL1 NXT1 GZF1 LINC01431
GH20G023348 1.4 ENCODE dbSUPER 17.9 +71.0 70991 3.9 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZBTB7B NAPB NXT1 CSTL1 PIR48192
GH20G023419 1.1 ENCODE 19 +0.9 867 3.0 HNRNPUL1 PKNOX1 MLX CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 YY1 NAPB CSTL1 RNA5SP479 GC20M023381
GH20G023397 0.7 Ensembl ENCODE 29.8 +23.7 23650 1.5 JUN FOS FOXP2 NAPB NXT1 ENSG00000234832 CSTL1 GC20M023381 RNA5SP479
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NAPB on UCSC Golden Path with GeneCards custom track

Promoters for NAPB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000135682 619 2201 HNRNPUL1 PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143

Genomic Location for NAPB Gene

Chromosome:
20
Start:
23,374,519 bp from pter
End:
23,421,519 bp from pter
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

Protein Domains for NAPB Gene

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

No data available for Gene Families for NAPB Gene

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.

Gene Ontology (GO) - Molecular Function for NAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005483 soluble NSF attachment protein activity IBA --
GO:0005515 protein binding IPI 21516116
GO:0019905 syntaxin binding IBA,IEA --
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:

Animal Model Products

miRNA for NAPB Gene

miRTarBase miRNAs that target NAPB

Inhibitory RNA Products

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
extracellular 5
cytosol 3
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NAPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005774 vacuolar membrane IBA --
GO:0016020 membrane IEA --
GO:0031201 SNARE complex IBA --
GO:0043209 myelin sheath IEA --
GO:0070044 synaptobrevin 2-SNAP-25-syntaxin-1a complex IEA --
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:0006810 transport IEA --
GO:0006886 intracellular protein transport IBA,IEA --
GO:0010807 regulation of synaptic vesicle priming IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
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

Unigene Clusters for NAPB Gene

N-ethylmaleimide-sensitive factor attachment protein, beta:
Representative Sequences:

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
NAPB

Expression for NAPB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for NAPB Gene



Protein tissue co-expression partners for NAPB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NAPB Gene:

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

Primer Products

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 35 34
  • 99.89 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NAPB 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NAPB 34 35
  • 93.85 (n)
rat
(Rattus norvegicus)
Mammalia Napb 34
  • 92.06 (n)
mouse
(Mus musculus)
Mammalia Napb 34 16 35
  • 91.16 (n)
cow
(Bos Taurus)
Mammalia NAPB 34 35
  • 89.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves NAPB 34 35
  • 83 (n)
lizard
(Anolis carolinensis)
Reptilia NAPB 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia napb 34
  • 83.33 (n)
Str.15567 34
zebrafish
(Danio rerio)
Actinopterygii NAPB (2 of 2) 35
  • 88 (a)
OneToMany
napba 35
  • 80 (a)
OneToMany
zgc:158643 34
  • 78.76 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.936 34
fruit fly
(Drosophila melanogaster)
Insecta Snap 36 35
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea D1014.3 36
  • 50 (a)
snap-1 35
  • 49 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC17 37 35
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2218 35
  • 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)

Paralogs for NAPB Gene

Paralogs for NAPB Gene

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

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

Variants for NAPB Gene

Sequence variations from dbSNP and Humsavar for NAPB Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs193921124 Uncertain significance 23,379,443(-) AGCAG(C/T)AAGTT splice-donor-variant
rs876661300 Uncertain significance 23,390,028(-) CAGCT(A/C)AGCAA nc-transcript-variant, reference, stop-gained
rs1000057573 -- 23,422,870(+) TGCAG(C/T)TGGGG upstream-variant-2KB
rs1000135428 -- 23,417,327(+) GATCC(A/C)CCCGC intron-variant
rs1000153668 -- 23,374,408(+) TTAAC(A/G)GGAAC downstream-variant-500B

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)

Relevant External Links for NAPB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAPB

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

Disorders for NAPB Gene

MalaCards: The human disease database

(1) MalaCards diseases for NAPB Gene - From: DISEASES

Disorder Aliases PubMed IDs
neurodegeneration with brain iron accumulation 6
  • copan
- elite association - COSMIC cancer census association via MalaCards
Search NAPB in MalaCards View complete list of genes associated with diseases

Relevant External Links for NAPB

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  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 E.B. (Neuron 1998) 3 22 64
  5. SNAP family of NSF attachment proteins includes a brain-specific isoform. (PMID: 8455721) Whiteheart S.W. … Rothman J.E. (Nature 1993) 2 3 64

Products for NAPB Gene

Sources for NAPB Gene

Content
Loading form....