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

Gene ID: 63908, updated on 12-Oct-2019

Summary

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
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; 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

Genomic context

See NAPB in Genome Data Viewer
Location:
20p11.21
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (23374519..23421519, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23355156..23402156, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene NXT1 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 1431 Neighboring gene nuclear transport factor 2 like export factor 1 Neighboring gene GDNF inducible zinc finger protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 479 Neighboring gene cystatin like 1 Neighboring gene cystatin 11

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from BioSystems

  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER is mediated in part by microtubule-directed COPI-coated vesicles (Letourneur et al, 1994; Shima et al, 1999; Spang et al, 1998; reviewed i...
  • COPI-mediated anterograde transport, organism-specific biosystem (from REACTOME)
    COPI-mediated anterograde transport, organism-specific biosystemThe ERGIC (ER-to-Golgi intermediate compartment, also known as vesicular-tubular clusters, VTCs) is a stable, biochemically distinct compartment located adjacent to ER exit sites (Ben-Tekaya et al, 2...
  • COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystem (from REACTOME)
    COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystemCOPII components (known as Sec13p, Sec23p, Sec24p, Sec31p, and Sar1p in yeast) traffic cargo from the endoplasmic reticulum to the ER-Golgi intermediate compartment (ERGIC). COPII-coated vesicles wer...
  • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
    ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Intra-Golgi traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi traffic, organism-specific biosystemThe mammalian Golgi consists of at least three biochemically distinct cisternae, cis-, medial- and trans (reviewed in Szul and Sztul, 2011; Day et al, 2013). The structure and function of the Golgi a...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Retrograde transport at the Trans-Golgi-Network, organism-specific biosystem (from REACTOME)
    Retrograde transport at the Trans-Golgi-Network, organism-specific biosystemThe trans-Golgi network is the docking site for retrograde cargo from the endolysosomal system and the plasma membrane. Typical cargo includes recycling resident TGN proteins such as TGOLN2 (also kn...
  • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
    Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43823, FLJ44368, MGC26066, MGC48335

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..52001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001283018.1NP_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/Swiss-Prot
    Q9H115
    UniProtKB/TrEMBL
    A0A087WZQ7
    Related
    ENSP00000482826.1, ENST00000617876.4
    Conserved Domains (1) summary
    cd15832
    Location:9291
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
  2. NM_001283020.1NP_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/Swiss-Prot
    Q9H115
    Related
    ENSP00000413600.2, ENST00000432543.6
    Conserved Domains (2) summary
    sd00006
    Location:4270
    TPR; TPR repeat [structural motif]
    pfam14938
    Location:9248
    SNAP; Soluble NSF attachment protein, SNAP
  3. NM_001283026.1NP_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:20193
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    pfam14938
    Location:20194
    SNAP; Soluble NSF attachment protein, SNAP
  4. NM_022080.2NP_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
    Q9H115
    Related
    ENSP00000366225.4, ENST00000377026.4
    Conserved Domains (1) summary
    cd15832
    Location:9287
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    23374519..23421519 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529313.1XP_011527615.1  beta-soluble NSF attachment protein isoform X1

    Conserved Domains (2) summary
    cd15832
    Location:13202
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    pfam14938
    Location:11203
    SNAP; Soluble NSF attachment protein, SNAP
  2. XM_017028008.1XP_016883497.1  beta-soluble NSF attachment protein isoform X1

    Conserved Domains (2) summary
    cd15832
    Location:13202
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    pfam14938
    Location:11203
    SNAP; Soluble NSF attachment protein, SNAP
  3. XM_011529315.2XP_011527617.1  beta-soluble NSF attachment protein isoform X2

    Conserved Domains (2) summary
    cd15832
    Location:3778
    SNAP; TPR repeat [structural motif]
    cl24038
    Location:9102
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
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