Reviewed, UniProtKB/Swiss-Prot P46459 (NSF_HUMAN)

Names and origin

Protein names

Recommended name:
    Vesicle-fusing ATPase
    EC=3.6.4.6
Alternative name(s):
    N-ethylmaleimide-sensitive fusion protein
      Short name=NEM-sensitive fusion protein
    Vesicular-fusion protein NSF

Gene names

Name:

NSF

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	744 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seem to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin.
Catalytic activity	ATP + H2O = ADP + phosphate.
Cofactor	Binds 1 magnesium ion per subunit By similarity.
Subunit structure	Homohexamer. Interacts with GABARAP and GABARAPL2 By similarity.
Subcellular location	Cytoplasm.
Sequence similarities	Belongs to the AAA ATPase family.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Domain	Repeat
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	protein transport Inferred from electronic annotation. Source: UniProtKB-KW proteolysis Inferred from electronic annotation. Source: InterPro
Cellular component	cytosol Inferred from Experiment. Source: Reactome
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATP-dependent peptidase activity Inferred from electronic annotation. Source: InterPro magnesium ion binding Inferred from electronic annotation. Source: UniProtKB-KW serine-type endopeptidase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PTPN12	Q05209	1	EBI-712251,EBI-2266035
PTPRB	P23467	1	EBI-712251,EBI-1265766
PTPRC	P08575	1	EBI-712251,EBI-1341
PTPRG	P23470	1	EBI-712251,EBI-2258115
PTPRJ	Q12913	1	EBI-712251,EBI-2264500
PTPRK	Q15262	1	EBI-712251,EBI-474052
PTPRO	Q16827	1	EBI-712251,EBI-723739
RGS20	O76081	1	EBI-712251,EBI-1052678
SAP18	O00422	1	EBI-712251,EBI-1044156

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 744	744	Vesicle-fusing ATPase		PRO_0000084563
Regions
	Nucleotide binding	260 – 267	8	ATP Potential
	Nucleotide binding	543 – 550	8	ATP Potential
Sites
	Metal binding	550	1	Magnesium By similarity
Amino acid modifications
	Modified residue	259	1	Phosphotyrosine By similarity
Natural variations
	Natural variant	476	1	T → M: dbSNP rs155733.		VAR_029580
Experimental info
	Sequence conflict	22	1	A → S in AAA17411. Ref.1
	Sequence conflict	22	1	A → S in AAF70545. Ref.2
	Sequence conflict	25	1	N → S in BAF82893. Ref.4
	Sequence conflict	107	1	I → N in AAA17411. Ref.1
	Sequence conflict	107	1	I → N in AAF70545. Ref.2
	Sequence conflict	107	1	I → N in AAF04745. Ref.3
	Sequence conflict	130	1	F → Y in AAA17411. Ref.1
	Sequence conflict	130	1	F → Y in AAF70545. Ref.2
	Sequence conflict	130	1	F → Y in AAF04745. Ref.3
	Sequence conflict	154	1	A → S in AAA17411. Ref.1
	Sequence conflict	154	1	A → S in AAF70545. Ref.2
	Sequence conflict	154	1	A → S in AAF04745. Ref.3
	Sequence conflict	237	1	S → F in AAA17411. Ref.1
	Sequence conflict	237	1	S → F in AAF70545. Ref.2
	Sequence conflict	237	1	S → F in AAF04745. Ref.3
	Sequence conflict	251	1	K → I in AAA17411. Ref.1
	Sequence conflict	251	1	K → I in AAF70545. Ref.2
	Sequence conflict	251	1	K → I in AAF04745. Ref.3
	Sequence conflict	427	1	K → R in BAF82893. Ref.4
	Sequence conflict	571	1	D → E in AAF04745. Ref.3
	Sequence conflict	639	1	K → M in BAF82893. Ref.4
	Sequence conflict	686	1	F → L in AAA17411. Ref.1
	Sequence conflict	686	1	F → L in AAF70545. Ref.2
	Sequence conflict	686	1	F → L in AAF04745. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P46459-1 [UniParc]. Last modified September 1, 2009. Version 3. Checksum: BF545A2A0C7EC2F7	FASTA	744	82,594
	10 20 30 40 50 60 MAGRSMQAAR CPTDELSLTN CAVVNEKDFQ SGQHVIVRTS PNHRYTFTLK THPSVVPGSI 70 80 90 100 110 120 AFSLPQRKWA GLSIGQEIEV SLYTFDKAKQ CIGTMTIEID FLQKKSIDSN PYDTDKMAAE 130 140 150 160 170 180 FIQQFNNQAF SVGQQLVFSF NEKLFGLLVK DIEAMDPSIL KGEPATGKRQ KIEVGLVVGN 190 200 210 220 230 240 SQVAFEKAEN SSLNLIGKAK TKENRQSIIN PDWNFEKMGI GGLDKEFSDI FRRAFASRVF 250 260 270 280 290 300 PPEIVEQMGC KHVKGILLYG PPGCGKTLLA RQIGKMLNAR EPKVVNGPEI LNKYVGESEA 310 320 330 340 350 360 NIRKLFADAE EEQRRLGANS GLHIIIFDEI DAICKQRGSM AGSTGVHDTV VNQLLSKIDG 370 380 390 400 410 420 VEQLNNILVI GMTNRPDLID EALLRPGRLE VKMEIGLPDE KGRLQILHIH TARMRGHQLL 430 440 450 460 470 480 SADVDIKELA VETKNFSGAE LEGLVRAAQS TAMNRHIKAS TKVEVDMEKA ESLQVTRGDF 490 500 510 520 530 540 LASLENDIKP AFGTNQEDYA SYIMNGIIKW GDPVTRVLDD GELLVQQTKN SDRTPLVSVL 550 560 570 580 590 600 LEGPPHSGKT ALAAKIAEES NFPFIKICSP DKMIGFSETA KCQAMKKIFD DAYKSQLSCV 610 620 630 640 650 660 VVDDIERLLD YVPIGPRFSN LVLQALLVLL KKAPPQGRKL LIIGTTSRKD VLQEMEMLNA 670 680 690 700 710 720 FSTTIHVPNI ATGEQLLEAL ELLGNFKDKE RTTIAQQVKG KKVWIGIKKL LMLIEMSLQM 730 740 DPEYRVRKFL ALLREEGASP LDFD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure and localization of a brain N-ethylmaleimide-sensitive factor involved in vesicular transport." Hong R., Moriyama Y., Mori H., Futai M., Yamamoto A., Tashiro Y., Fukui T., Tagaya M. Submitted (DEC-1993) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[2]	Bui T.D., Lu L., Hong W. Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"The regulation of hNSF gene expression." Zhang R., Liu Z., Wu M. Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Thalamus.
[5]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed: 16625196] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[7]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U03985 mRNA. Translation: AAA17411.1. Different initiation. AF135168 mRNA. Translation: AAF70545.1. AF102846 mRNA. Translation: AAF04745.2. AK290204 mRNA. Translation: BAF82893.1. AC004098 Genomic DNA. No translation available. AC138645 Genomic DNA. No translation available. AC138688 Genomic DNA. No translation available. AC217769 Genomic DNA. No translation available. AC217778 Genomic DNA. No translation available. AC217780 Genomic DNA. No translation available. BC030613 mRNA. Translation: AAH30613.1.
IPI	IPI00006451.
PIR	G01234.
RefSeq	NP_006169.2.
UniGene	Hs.431279
3D structure databases
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-389N.
IntAct	P46459. 18 interactions.
STRING	P46459.
Protein family/group databases
TCDB	1.F.1.1.1. synaptosomal vesicle fusion pore (SVF-Pore) family.
PTM databases
PhosphoSite	P46459.
Proteomic databases
PRIDE	P46459.
Genome annotation databases
Ensembl	ENST00000398238; ENSP00000381293; ENSG00000073969; Homo sapiens. [Genome view]
GeneID	4905.
KEGG	hsa:4905.
UCSC	uc002iku.2. human.
Organism-specific databases
CTD	4905.
GeneCards	GC17P042024.
HGNC	HGNC:8016. NSF.
HPA	CAB009324. CAB013645. HPA003154.
MIM	601633. gene.
PharmGKB	PA31793.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG06329.
HOGENOM	HBG318848.
HOVERGEN	P46459.
InParanoid	P46459.
OMA	TMQAARC.
PhylomeDB	P46459.
Enzyme and pathway databases
BRENDA	3.6.4.6. 247.
Reactome	REACT_13685. Synaptic Transmission.
Gene expression databases
ArrayExpress	P46459.
Bgee	P46459.
CleanEx	HS_NSF.
Genevestigator	P46459.
GermOnline	ENSG00000073969. Homo sapiens.
Family and domain databases
InterPro	IPR009010. Asp_de-COase-like_fold. IPR003593. ATPase_AAA+_core. IPR003959. ATPase_AAA_core. IPR003960. ATPase_AAA_CS. IPR003338. ATPase_AAA_VAT_N. IPR004201. Cell_division_protein_CDC48_2. IPR001984. Peptidase_S16_C. [Graphical view]
Pfam	PF00004. AAA. 2 hits. PF02933. CDC48_2. 1 hit. PF02359. CDC48_N. 1 hit. [Graphical view]
PRINTS	PR00830. ENDOLAPTASE.
SMART	SM00382. AAA. 2 hits. [Graphical view]
PROSITE	PS00674. AAA. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
PMAP-CutDB	P46459.
SOURCE	Search...

Entry information

Entry name

NSF_HUMAN

Accession

Primary (citable) accession number: P46459
Secondary accession number(s): A8K2D9, Q8N6D7, Q9UKZ2

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	September 1, 2009
Last modified:	January 19, 2010
This is version 96 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.