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P46459 (NSF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length744 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling By similarity.

Catalytic activity

ATP + H2O = ADP + phosphate.

Cofactor

Binds 1 magnesium ion per subunit By similarity.

Subunit structure

Homohexamer. Interacts with GABARAP and GABARAPL2. Interacts with GRIA2. Interacts with PLK2, leading to disrupt the interaction with GRIA2. Interacts with MUSK; may regulate MUSK endocytosis and activity By similarity. Interacts with CDK16 By similarity.

Subcellular location

Cytoplasm.

Post-translational modification

Phosphorylation at Ser-569 interferes with homohexamerization By similarity.

Sequence similarities

Belongs to the AAA ATPase family.

Sequence caution

The sequence AAA17411.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 744744Vesicle-fusing ATPase
PRO_0000084563

Regions

Nucleotide binding505 – 5106ATP By similarity
Nucleotide binding545 – 5528ATP By similarity

Sites

Metal binding5501Magnesium By similarity

Amino acid modifications

Modified residue1051N6-acetyllysine By similarity
Modified residue2591Phosphotyrosine By similarity
Modified residue5691Phosphoserine; by CDK16 By similarity

Natural variations

Natural variant4761T → M.
Corresponds to variant rs155733 [ dbSNP | Ensembl ].
VAR_029580

Experimental info

Sequence conflict221A → S in AAA17411. Ref.1
Sequence conflict221A → S in AAF70545. Ref.2
Sequence conflict251N → S in BAF82893. Ref.4
Sequence conflict1071I → N in AAA17411. Ref.1
Sequence conflict1071I → N in AAF70545. Ref.2
Sequence conflict1071I → N in AAF04745. Ref.3
Sequence conflict1301F → Y in AAA17411. Ref.1
Sequence conflict1301F → Y in AAF70545. Ref.2
Sequence conflict1301F → Y in AAF04745. Ref.3
Sequence conflict1541A → S in AAA17411. Ref.1
Sequence conflict1541A → S in AAF70545. Ref.2
Sequence conflict1541A → S in AAF04745. Ref.3
Sequence conflict2371S → F in AAA17411. Ref.1
Sequence conflict2371S → F in AAF70545. Ref.2
Sequence conflict2371S → F in AAF04745. Ref.3
Sequence conflict2511K → I in AAA17411. Ref.1
Sequence conflict2511K → I in AAF70545. Ref.2
Sequence conflict2511K → I in AAF04745. Ref.3
Sequence conflict4271K → R in BAF82893. Ref.4
Sequence conflict5711D → E in AAF04745. Ref.3
Sequence conflict6391K → M in BAF82893. Ref.4
Sequence conflict6861F → L in AAA17411. Ref.1
Sequence conflict6861F → L in AAF70545. Ref.2
Sequence conflict6861F → L in AAF04745. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P46459 [UniParc].

Last modified September 1, 2009. Version 3.
Checksum: BF545A2A0C7EC2F7

FASTA74482,594
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+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.
PIRG01234.
RefSeqNP_006169.2. NM_006178.3.
UniGeneHs.431279.

3D structure databases

ProteinModelPortalP46459.
SMRP46459. Positions 1-742.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110960. 37 interactions.
DIPDIP-389N.
IntActP46459. 37 interactions.
MINTMINT-1369243.
STRING9606.ENSP00000381293.

Chemistry

ChEMBLCHEMBL2311231.

Protein family/group databases

TCDB1.F.1.1.1. the synaptosomal vesicle fusion pore (svf-pore) family.

PTM databases

PhosphoSiteP46459.

Polymorphism databases

DMDM257051048.

2D gel databases

UCD-2DPAGEP46459.

Proteomic databases

PaxDbP46459.
PRIDEP46459.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000398238; ENSP00000381293; ENSG00000073969.
GeneID4905.
KEGGhsa:4905.
UCSCuc002iku.3. human.

Organism-specific databases

CTD4905.
GeneCardsGC17P044668.
H-InvDBHIX0013914.
HIX0013915.
HGNCHGNC:8016. NSF.
HPACAB009324.
CAB013645.
HPA003154.
MIM601633. gene.
neXtProtNX_P46459.
PharmGKBPA31793.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0464.
HOGENOMHOG000198544.
HOVERGENHBG000324.
InParanoidP46459.
KOK06027.
OMAFKDKERS.
OrthoDBEOG7P8P7F.
PhylomeDBP46459.
TreeFamTF300371.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

ArrayExpressP46459.
BgeeP46459.
CleanExHS_NSF.
GenevestigatorP46459.

Family and domain databases

InterProIPR003593. AAA+_ATPase.
IPR009010. Asp_de-COase-like_dom.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR004201. Cdc48_dom2.
IPR003338. CDC4_N-term_subdom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF00004. AAA. 2 hits.
PF02933. CDC48_2. 1 hit.
PF02359. CDC48_N. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
SM01072. CDC48_2. 1 hit.
SM01073. CDC48_N. 1 hit.
[Graphical view]
SUPFAMSSF50692. SSF50692. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEPS00674. AAA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNSF. human.
GeneWikiN-ethylmaleimide_sensitive_fusion_protein.
GenomeRNAi4905.
NextBio18875.
PMAP-CutDBP46459.
PROP46459.
SOURCESearch...

Entry information

Entry nameNSF_HUMAN
AccessionPrimary (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: March 19, 2014
This is version 139 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM