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

    Gene ID: 63908, updated on 27-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23374522..23421488, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23434062..23481033, complement)
    RS_2024_09 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 (31) 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)

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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