Nsfl1c NSFL1 (p97) cofactor (p47) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nsfl1cprovided by MGI
Official Full Name: NSFL1 (p97) cofactor (p47)provided by MGI
Primary source: MGI:MGI:3042273
See related: Ensembl:ENSMUSG00000027455 AllianceGenome:MGI:3042273
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: p47; Stxbp3a; Munc-18c
Summary: Predicted to enable ATPase binding activity and ubiquitin binding activity. Predicted to contribute to phospholipid binding activity. Predicted to be involved in several processes, including establishment of mitotic spindle orientation; negative regulation of protein localization to centrosome; and positive regulation of mitotic centrosome separation. Part of VCP-NSFL1C complex. Is expressed in central nervous system and retina. Orthologous to human NSFL1C (NSFL1 cofactor). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 67.7), CNS E14 (RPKM 54.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 G3; 2 74.83 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (151336102..151353230)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (151494182..151511310)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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.
our data identify EBP50 as a previously unidentified regulator of Nox1 and support that it promotes Nox1 activity by binding p47(phox) This interaction is pivotal for agonist-induced smooth muscle ROS, hypertrophy, and vasoconstriction and has implications for ROS-mediated physiological and pathophysiological processes.
Title: Binding of EBP50 to Nox organizing subunit p47phox is pivotal to cellular reactive species generation and altered vascular phenotype.
Data suggest that NADPH oxidase-derived cytosolic superoxide is increased in islets upon oleate exposure and leads to beta cell dysfunction; whole-body NADPH oxidase inhibition (via p47 knockout) decreases superoxide and restores islet function.
Title: NADPH oxidase inhibition prevents beta cell dysfunction induced by prolonged elevation of oleate in rodents.
genetic ablation of components of NADPH oxidase enhances susceptibility to the proinflammatory effects of CS leading to airspace enlargement and alveolar damage.
Title: Genetic ablation of NADPH oxidase enhances susceptibility to cigarette smoke-induced lung inflammation and emphysema in mice.
that p47 ubiquitin regulatory X domain domains may act as general p97/valosin containing protein/CDC48 binding modules and that adaptor binding for N-ethylmaleimide sensitive factor and p97 might involve different binding sites
Title: Structural basis of the interaction between the AAA ATPase p97/VCP and its adaptor protein p47.

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Variation

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Alleles

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

Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80523 (e-PCR)
- UniSTS:86330

MHAa31c11.seq (e-PCR)
- UniSTS:125134

WI-20603 (e-PCR)
- UniSTS:23761

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
contributes_to phospholipid binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi organization	ISO Inferred from Sequence Orthology more info
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of mitotic spindle orientation	IEA Inferred from Electronic Annotation more info
involved_in establishment of mitotic spindle orientation	ISO Inferred from Sequence Orthology more info
involved_in membrane fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane fusion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein localization to centrosome	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein localization to centrosome	ISO Inferred from Sequence Orthology more info
involved_in nuclear membrane reassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of mitotic centrosome separation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitotic centrosome separation	ISO Inferred from Sequence Orthology more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi stack	IEA Inferred from Electronic Annotation more info
part_of VCP-NSFL1C complex	IPI Inferred from Physical Interaction more info	PubMed
part_of VCP-NSFL1C complex	ISO Inferred from Sequence Orthology more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in spindle pole centrosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: NSFL1 cofactor p47

Names: p97 cofactor p47

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_001291074.1 → NP_001278003.1 NSFL1 cofactor p47 isoform b

See identical proteins and their annotated locations for NP_001278003.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.

Source sequence(s)

AK013024, AL928719, CJ152490

Consensus CDS

CCDS71160.1

UniProtKB/Swiss-Prot

A2AT03, Q80Y15, Q8BYL3, Q9CZ44

UniProtKB/TrEMBL

Q3KQQ1

Related

ENSMUSP00000028949.10, ENSMUST00000028949.16

Conserved Domains (3) summary

cd01770
Location:292 → 370

p47_UBX; p47-like ubiquitin domain

smart00553
Location:178 → 270

SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47

cd14348
Location:7 → 45

UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins
NM_198326.3 → NP_938085.1 NSFL1 cofactor p47 isoform a

See identical proteins and their annotated locations for NP_938085.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AK137088, AL928719, CJ152490

Consensus CDS

CCDS16868.1

UniProtKB/TrEMBL

Q3KQQ1, Q3UVN5

Related

ENSMUSP00000086542.7, ENSMUST00000089140.13

Conserved Domains (3) summary

cd01770
Location:294 → 372

p47_UBX; p47-like ubiquitin domain

smart00553
Location:180 → 272

SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47

cd14348
Location:7 → 45

UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins