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NAPB NSF attachment protein beta [ Homo sapiens (human) ]

Gene ID: 63908, updated on 7-Apr-2024

Summary

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Official Symbol
NAPBprovided by HGNC
Official Full Name
NSF attachment protein betaprovided by HGNC
Primary source
HGNC:HGNC:15751
See related
Ensembl:ENSG00000125814 MIM:611270; AllianceGenome:HGNC:15751
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SNAPB; DEE107; SNAP-BETA
Summary
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]
Expression
Biased expression in brain (RPKM 118.1) and adrenal (RPKM 14.6) See more
Orthologs
mouse all
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Genomic context

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See NAPB in Genome Data Viewer
Location:
20p11.21
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23374522..23421488, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23434062..23481033, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23355159..23402125, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17636 Neighboring gene long intergenic non-protein coding RNA 1431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17637 Neighboring gene GDNF inducible zinc finger protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 479 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:23372358-23372897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:23406421-23407128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23423063-23423642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12732 Neighboring gene cystatin like 1 Neighboring gene cystatin 11 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:23453588-23454206 Neighboring gene Sharpr-MPRA regulatory region 1881 Neighboring gene cystatin 12, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant. Mignon-Ravix C, et al. Epilepsia, 2023 Jun. PMID 37014259
  2. A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy. Zhao X, et al. Eur J Med Genet, 2021 Jan. PMID 33189936
  3. A multisubunit particle implicated in membrane fusion. Wilson DW, et al. J Cell Biol, 1992 May. PMID 1315316, Free PMC Article
  4. Syntaxin 13 mediates cycling of plasma membrane proteins via tubulovesicular recycling endosomes. Prekeris R, et al. J Cell Biol, 1998 Nov 16. PMID 9817754, Free PMC Article
  5. SNAP family of NSF attachment proteins includes a brain-specific isoform. Whiteheart SW, et al. Nature, 1993 Mar 25. PMID 8455721

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.
    Title: NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.
  2. A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy.
    Title: A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy-107
MedGen: C5774215 OMIM: 620033 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ43823, FLJ44368, MGC26066, MGC48335

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables soluble NSF attachment protein activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in SNARE complex disassembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of synaptic vesicle priming IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
part_of synaptobrevin 2-SNAP-25-syntaxin-1a complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
beta-soluble NSF attachment protein
Names
N-ethylmaleimide-sensitive factor attachment protein, beta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053071.1 RefSeqGene

    Range
    5032..51998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001283018.2 → NP_001269947.1  beta-soluble NSF attachment protein isoform a

    See identical proteins and their annotated locations for NP_001269947.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AI285959, AK124876, AK296385, DC335439
    Consensus CDS
    CCDS74710.1
    UniProtKB/TrEMBL
    A0A087WZQ7, B4DIV0
    Related
    ENSP00000482826.1, ENST00000617876.4
    Conserved Domains (1) summary
    cd15832
    Location:9 → 291
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

  2. NM_001283020.2 → NP_001269949.1  beta-soluble NSF attachment protein isoform c

    See identical proteins and their annotated locations for NP_001269949.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AI285959, AK124876, AK296385, DC335439
    Consensus CDS
    CCDS63242.1
    UniProtKB/TrEMBL
    B4DIV0
    Related
    ENSP00000413600.2, ENST00000432543.6
    Conserved Domains (2) summary
    sd00006
    Location:42 → 70
    TPR; TPR repeat [structural motif]
    pfam14938
    Location:9 → 248
    SNAP; Soluble NSF attachment protein, SNAP

  3. NM_001283026.2 → NP_001269955.1  beta-soluble NSF attachment protein isoform d

    See identical proteins and their annotated locations for NP_001269955.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site and lacks an alternate exon in the 5' region, which results in the use of an alternate translational start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AI285959, AK124876, BC047426, DC335439
    Consensus CDS
    CCDS63241.1
    UniProtKB/Swiss-Prot
    Q9H115
    Related
    ENSP00000381459.3, ENST00000398425.7
    Conserved Domains (2) summary
    cd15832
    Location:20 → 193
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    pfam14938
    Location:20 → 194
    SNAP; Soluble NSF attachment protein, SNAP

  4. NM_022080.3 → NP_071363.1  beta-soluble NSF attachment protein isoform b

    See identical proteins and their annotated locations for NP_071363.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AI285959, AK125811, BC060840, DC335439
    Consensus CDS
    CCDS13152.1
    UniProtKB/Swiss-Prot
    B4DK44, Q4G0M0, Q4G187, Q5JXF9, Q8N3C4, Q9H115
    UniProtKB/TrEMBL
    B4DIV0
    Related
    ENSP00000366225.4, ENST00000377026.4
    Conserved Domains (1) summary
    cd15832
    Location:9 → 287
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

RNA

  1. NR_104266.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site and lacks an alternate exon in the 5' region, and lacks a segment in the 3' region, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translation start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI285959, AK124876, BX648330, DC335439

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    23374522..23421488 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440359.1 → XP_047296315.1  beta-soluble NSF attachment protein isoform X2

  2. XM_047440358.1 → XP_047296314.1  beta-soluble NSF attachment protein isoform X1

  3. XM_047440357.1 → XP_047296313.1  beta-soluble NSF attachment protein isoform X1

  4. XM_047440360.1 → XP_047296316.1  beta-soluble NSF attachment protein isoform X4

  5. XM_011529315.3 → XP_011527617.1  beta-soluble NSF attachment protein isoform X3

    Conserved Domains (2) summary
    cd15832
    Location:37 → 78
    SNAP; TPR repeat [structural motif]
    cl24038
    Location:9 → 102
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    23434062..23481033 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323807.1 → XP_054179782.1  beta-soluble NSF attachment protein isoform X2

  2. XM_054323806.1 → XP_054179781.1  beta-soluble NSF attachment protein isoform X1

  3. XM_054323805.1 → XP_054179780.1  beta-soluble NSF attachment protein isoform X1

  4. XM_054323809.1 → XP_054179784.1  beta-soluble NSF attachment protein isoform X4

  5. XM_054323808.1 → XP_054179783.1  beta-soluble NSF attachment protein isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H115.2 GenPept UniProtKB/Swiss-Prot:Q9H115

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