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

Summary

Official Symbol: Napaprovided by MGI
Official Full Name: N-ethylmaleimide sensitive fusion protein attachment protein alphaprovided by MGI
Primary source: MGI:MGI:104563
See related: Ensembl:ENSMUSG00000006024 AllianceGenome:MGI:104563
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: hyh; RA81; SNAPA; SNARE; a-SNAP; SNAP-alpha; 1500039N14Rik
Summary: Enables syntaxin binding activity. Involved in regulation of synaptic vesicle priming and synaptic vesicle priming. Acts upstream of or within several processes, including SNARE complex disassembly; apical protein localization; and nervous system development. Located in myelin sheath. Part of synaptobrevin 2-SNAP-25-syntaxin-1a complex. Is active in glutamatergic synapse. Is expressed in central nervous system; peripheral nervous system ganglion; and retina. Orthologous to human NAPA (NSF attachment protein alpha). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 63.0), cerebellum adult (RPKM 61.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A2; 7 8.74 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (15832127..15851907)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (16098202..16117982)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Munc18c accelerates SNARE-dependent membrane fusion in the presence of regulatory proteins alpha-SNAP and NSF.
Title: Munc18c accelerates SNARE-dependent membrane fusion in the presence of regulatory proteins α-SNAP and NSF.
Pleiotropic effects of alpha-SNAP M105I mutation on oocyte biology: ultrastructural and cellular changes that adversely affect female fertility in mice.
Title: Pleiotropic effects of alpha-SNAP M105I mutation on oocyte biology: ultrastructural and cellular changes that adversely affect female fertility in mice.
results showed that alpha-SNAP protein is highly expressed in granulosa cells and its expression is modulated by gonadotropin stimuli.
Title: α-SNAP is expressed in mouse ovarian granulosa cells and plays a key role in folliculogenesis and female fertility.
alpha-SNAP is a crucial component of Orai1 channels, and its depletion disrupts the functional assembly of Orai1 multimers. Here the authors show that alpha-SNAP hypomorph, hydrocephalus with hopping gait, Napa(hyh/hyh) mice harbor significant defects in CD4 T cell gene expression and Foxp3 regulatory T cell (Treg) differentiation.
Title: Na(+) influx via Orai1 inhibits intracellular ATP-induced mTORC2 signaling to disrupt CD4 T cell gene expression and differentiation.
Furthermore, alphaSNAP-deficient mutant animals displayed reduced formation of lysozyme granules in small intestinal crypts and decreased expression of lysozyme and defensins in the intestinal mucosa, which is indicative of defects in Paneth cell differentiation. By contrast, development of Goblet cells, enteroendocrine cells, and assembly of enterocyte apical junctions was not altered in hyh mutant mice. Our data reve...
Title: A vesicle trafficking protein αSNAP regulates Paneth cell differentiation in vivo.
AMPK associates with alpha-SNAP, an adapter that enables disassembly of cis-SNARE complexes formed during membrane fusion.
Title: α-SNAP inhibits AMPK signaling to reduce mitochondrial biogenesis and dephosphorylates Thr172 in AMPKα in vitro.
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.
Study indicate that the genotyping method enhances the potentiality of hyh mouse as a unique in vivo model to study the role of membrane trafficking in different developmental and physiological processes.
Title: A simple PCR-based genotyping method for M105I mutation of alpha-SNAP enhances the study of early pathological changes in hyh phenotype.
Data suggest that the M105I mutation affects the expression and also the function of alphaSNAP, and that a fully functional alphaSNAP is necessary for acrosomal exocytosis, a key event in fertilization.
Title: Sperm from hyh mice carrying a point mutation in alphaSNAP have a defect in acrosome reaction.
The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate.
Title: The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC341847P1 (e-PCR)
- UniSTS:273185

PMC341847P2 (e-PCR)
- UniSTS:273186

AW209189 (e-PCR)
- UniSTS:179523

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SNARE binding	ISO Inferred from Sequence Orthology more info	PubMed
enables SNARE binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISS Inferred from Sequence or Structural Similarity more info
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
acts_upstream_of_or_within apical protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein-containing complex disassembly	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
involved_in synaptic vesicle priming	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle priming	IMP Inferred from Mutant Phenotype 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 neuromuscular junction	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
located_in presynapse	IEA Inferred from Electronic Annotation 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
part_of synaptobrevin 2-SNAP-25-syntaxin-1a complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: alpha-soluble NSF attachment protein

Names: N-ethylmaleimide-sensitive factor attachment protein alpha; hydrocephaly with hop gait

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_025898.4 → NP_080174.1 alpha-soluble NSF attachment protein

See identical proteins and their annotated locations for NP_080174.1

Status: VALIDATED

Source sequence(s)

AK050623, AK078019, BY631159

Consensus CDS

CCDS20843.1

UniProtKB/Swiss-Prot

Q543I3, Q9DB05

UniProtKB/TrEMBL

Q9CXX1

Related

ENSMUSP00000006181.7, ENSMUST00000006181.7

Conserved Domains (1) summary

pfam14938
Location:19 → 288

SNAP; Soluble NSF attachment protein, SNAP

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

15832127..15851907

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030241975.1 → XP_030097835.1 alpha-soluble NSF attachment protein isoform X1

UniProtKB/Swiss-Prot

Q543I3, Q9DB05

UniProtKB/TrEMBL

Q9CXX1

Conserved Domains (1) summary

pfam14938
Location:19 → 288

SNAP; Soluble NSF attachment protein, SNAP
XM_030241974.1 → XP_030097834.1 alpha-soluble NSF attachment protein isoform X1

UniProtKB/Swiss-Prot

Q543I3, Q9DB05

UniProtKB/TrEMBL

Q9CXX1

Conserved Domains (1) summary

pfam14938
Location:19 → 288

SNAP; Soluble NSF attachment protein, SNAP