Napb N-ethylmaleimide sensitive fusion protein attachment protein beta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Napbprovided by MGI
Official Full Name: N-ethylmaleimide sensitive fusion protein attachment protein betaprovided by MGI
Primary source: MGI:MGI:104562
See related: Ensembl:ENSMUSG00000027438 AllianceGenome:MGI:104562
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: I47; E161; Brp14; SNARE; b-SNAP
Summary: Enables syntaxin binding activity. Involved in regulation of synaptic vesicle priming. Acts upstream of or within SNARE complex disassembly and glutamatergic synaptic transmission. Located in myelin sheath. Part of synaptobrevin 2-SNAP-25-syntaxin-1a complex. Is active in glutamatergic synapse. Is expressed in central nervous system; liver; peripheral nervous system ganglion; retina nuclear layer; and testis. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 107. Orthologous to human NAPB (NSF attachment protein beta). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in frontal lobe adult (RPKM 69.4), cortex adult (RPKM 55.9) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 G3; 2 73.53 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (148535905..148574396, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (148693985..148732425, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

analysis of alpha- and betaSNAP deletion mutant neurons shows that the two N-Ethylmaleimide-Sensitive Factor cofactors support synaptic vesicle priming by determining the availability of free SNARE components
Title: SNARE protein recycling by αSNAP and βSNAP supports synaptic vesicle priming.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2Mit47 (e-PCR), detects polymorphism
- UniSTS:129381

D2Mit47.1 (e-PCR), detects polymorphism
- UniSTS:129382

D2Mit47.2 (e-PCR), detects polymorphism
- UniSTS:129383

X61455 (e-PCR)
- UniSTS:125829

X61455 (e-PCR)
- UniSTS:163299

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SNARE binding	ISO Inferred from Sequence Orthology more info
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
enables syntaxin binding	IDA Inferred from Direct Assay more info	PubMed
enables syntaxin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in SNARE complex disassembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within SNARE complex disassembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex disassembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic vesicle priming	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of synaptic vesicle priming	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle priming	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within regulation of synaptic vesicle priming	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of synaptic vesicle priming	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within synaptic transmission, glutamatergic	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in myelin sheath	HDA more info	PubMed
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic active zone membrane	ISO Inferred from Sequence Orthology more info
part_of synaptobrevin 2-SNAP-25-syntaxin-1a complex	IBA Inferred from Biological aspect of Ancestor more info
part_of synaptobrevin 2-SNAP-25-syntaxin-1a complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: beta-soluble NSF attachment protein

Names: N-ethylmaleimide-sensitive factor attachment protein beta; SNAP-beta; brain protein 14; brain protein I47

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.

mRNA and Protein(s)

NM_019632.4 → NP_062606.1 beta-soluble NSF attachment protein

See identical proteins and their annotated locations for NP_062606.1

Status: VALIDATED

Source sequence(s)

AL844519, AL928638

Consensus CDS

CCDS16842.1

UniProtKB/Swiss-Prot

P28663

Related

ENSMUSP00000028926.7, ENSMUST00000028926.13

Conserved Domains (1) summary

cd15832
Location:9 → 287

SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

RNA

NR_185171.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL844519, AL928638

Related

ENSMUST00000136513.2
NR_185172.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL844519, AL928638