Details for: NSF

Gene ID: 4905

Symbol: NSF

Ensembl ID: ENSG00000073969

Description: N-ethylmaleimide sensitive factor, vesicle fusing ATPase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 284.2260
    Cell Significance Index: -44.2100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 174.1421
    Cell Significance Index: -44.1700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 97.7066
    Cell Significance Index: -40.2500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 93.7399
    Cell Significance Index: -38.0800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 40.1103
    Cell Significance Index: -38.3000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 36.4814
    Cell Significance Index: -44.9800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 15.7044
    Cell Significance Index: -42.0700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 15.3299
    Cell Significance Index: -47.0900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.4444
    Cell Significance Index: -45.1600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.9471
    Cell Significance Index: -21.7700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 3.9840
    Cell Significance Index: 176.2200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 3.8688
    Cell Significance Index: 146.5000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.7364
    Cell Significance Index: 548.9200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.2154
    Cell Significance Index: 139.6300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.1204
    Cell Significance Index: 111.3300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.9269
    Cell Significance Index: 23.9000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.8505
    Cell Significance Index: 1279.8400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.8179
    Cell Significance Index: 1641.4700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.7990
    Cell Significance Index: 357.0200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.6954
    Cell Significance Index: 20.2100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.4302
    Cell Significance Index: 513.0100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.4183
    Cell Significance Index: 18.9200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.1166
    Cell Significance Index: 121.4600
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.0519
    Cell Significance Index: 6.4900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.0295
    Cell Significance Index: 28.7700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9645
    Cell Significance Index: 156.8700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.8303
    Cell Significance Index: 6.4000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8055
    Cell Significance Index: 48.3600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.8052
    Cell Significance Index: 11.8900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.8000
    Cell Significance Index: 19.5200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7769
    Cell Significance Index: 10.6000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.7503
    Cell Significance Index: 18.7100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5086
    Cell Significance Index: 35.1700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4182
    Cell Significance Index: 75.4000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3556
    Cell Significance Index: 8.8900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2875
    Cell Significance Index: 22.0600
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.2400
    Cell Significance Index: 2.1300
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.2398
    Cell Significance Index: 3.8700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2255
    Cell Significance Index: 27.7300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.2186
    Cell Significance Index: 11.0500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1573
    Cell Significance Index: 18.5500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1250
    Cell Significance Index: 5.8300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1184
    Cell Significance Index: 64.6600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0986
    Cell Significance Index: 1.6900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0978
    Cell Significance Index: 2.0900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0904
    Cell Significance Index: 39.9500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0787
    Cell Significance Index: 14.9800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0675
    Cell Significance Index: 9.2700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0652
    Cell Significance Index: 0.6000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0482
    Cell Significance Index: 8.2300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0475
    Cell Significance Index: 1.6700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0445
    Cell Significance Index: 2.3100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0420
    Cell Significance Index: 4.1500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0416
    Cell Significance Index: 1.2000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0344
    Cell Significance Index: 64.8500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0075
    Cell Significance Index: 13.8100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0041
    Cell Significance Index: 0.1100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0032
    Cell Significance Index: 4.9000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0003
    Cell Significance Index: -0.1600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0081
    Cell Significance Index: -11.0000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0094
    Cell Significance Index: -5.9900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0142
    Cell Significance Index: -8.8900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0174
    Cell Significance Index: -12.9000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0376
    Cell Significance Index: -27.5400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0480
    Cell Significance Index: -6.9800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0493
    Cell Significance Index: -37.3400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0543
    Cell Significance Index: -30.6000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0975
    Cell Significance Index: -5.4700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1170
    Cell Significance Index: -24.6400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1213
    Cell Significance Index: -2.5800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1228
    Cell Significance Index: -2.6600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1334
    Cell Significance Index: -38.3700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1794
    Cell Significance Index: -3.8200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1938
    Cell Significance Index: -19.8000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.2042
    Cell Significance Index: -1.6700
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.2230
    Cell Significance Index: -2.8600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2265
    Cell Significance Index: -14.6200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2286
    Cell Significance Index: -10.3600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2293
    Cell Significance Index: -29.4000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2358
    Cell Significance Index: -27.0100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2482
    Cell Significance Index: -12.9300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2523
    Cell Significance Index: -29.4000
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.2543
    Cell Significance Index: -2.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2701
    Cell Significance Index: -34.8900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2707
    Cell Significance Index: -4.5600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3132
    Cell Significance Index: -35.7500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3802
    Cell Significance Index: -39.5900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3820
    Cell Significance Index: -5.6400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4019
    Cell Significance Index: -18.8900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4221
    Cell Significance Index: -31.4600
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.4231
    Cell Significance Index: -4.6100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.4286
    Cell Significance Index: -8.8900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.4331
    Cell Significance Index: -6.2200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4506
    Cell Significance Index: -8.9100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4634
    Cell Significance Index: -36.7000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4916
    Cell Significance Index: -9.8700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.5005
    Cell Significance Index: -35.4000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5202
    Cell Significance Index: -17.0300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5372
    Cell Significance Index: -17.1100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5964
    Cell Significance Index: -15.3300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** NSF is a member of the N-ethylmaleimide-sensitive factor light chain 1 (NSF1) family, which is composed of four subunits: NSF, NSF2, NSF3, and NSF4. NSF is characterized by its high ATPase activity, which enables it to regulate the fusion of vesicles with the plasma membrane. This enzyme is highly sensitive to N-ethylmaleimide (NEM), a chemical that inhibits NSF activity. **Pathways and Functions:** NSF is involved in various cellular processes, including: 1. **Protein Trafficking:** NSF regulates the fusion of vesicles with the plasma membrane, facilitating the transport of proteins to their destination within the cell. 2. **Anterograde Transport:** NSF is essential for the transport of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus, where they undergo further modification and sorting. 3. **Synaptic Plasticity:** NSF plays a crucial role in the regulation of synaptic plasticity, particularly in the context of long-term potentiation (LTP) and long-term depression (LTD). 4. **Golgi-to-ER Retrograde Transport:** NSF is involved in the regulation of retrograde transport from the Golgi apparatus to the ER, which is essential for protein degradation and quality control. **Functions:** NSF's functions can be broadly categorized into the following: 1. **Vesicle Fusion:** NSF regulates the fusion of vesicles with the plasma membrane, enabling the release of neurotransmitters and other signaling molecules. 2. **Protein Modification:** NSF is involved in the modification of proteins, including glycosylation, phosphorylation, and ubiquitination. 3. **Cellular Signaling:** NSF plays a crucial role in cellular signaling pathways, including those involved in neurotransmission and synaptic plasticity. **Clinical Significance:** Dysregulation of NSF has been implicated in various neurological and psychiatric disorders, including: 1. **Neurodegenerative Diseases:** NSF has been linked to neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, and Huntington's disease. 2. **Neurodevelopmental Disorders:** NSF has been implicated in neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 3. **Cancer:** NSF has been shown to play a role in cancer development and progression, particularly in the context of epithelial-to-mesenchymal transition (EMT). In conclusion, NSF is a multifaceted enzyme that plays a critical role in various cellular processes, including protein trafficking, synaptic plasticity, and anterograde transport. Its dysregulation has been implicated in various neurological and psychiatric disorders, highlighting the importance of NSF in maintaining cellular homeostasis and its potential therapeutic applications in the treatment of these diseases.

Genular Protein ID: 3119498900

Symbol: NSF_HUMAN

Name: Vesicle-fusing ATPase

UniProtKB Accession Codes:

P46459 A8K2D9 B4DFA2 Q8N6D7 Q9UKZ2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 9 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 2 EMBL 12 Ensembl 4 ExpressionAtlas 1 GO 28 Gene3D 4 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 6 RefSeq 1 Rhea 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 31675180

Title: De novo NSF mutations cause early infantile epileptic encephalopathy.

PubMed ID: 31675180

DOI: 10.1002/acn3.50917

Sequence Information:

  • Length: 744
  • Mass: 82594
  • Checksum: BF545A2A0C7EC2F7
  • Sequence:
    • MAGRSMQAAR CPTDELSLTN CAVVNEKDFQ SGQHVIVRTS PNHRYTFTLK THPSVVPGSI 
AFSLPQRKWA GLSIGQEIEV SLYTFDKAKQ CIGTMTIEID FLQKKSIDSN PYDTDKMAAE 
FIQQFNNQAF SVGQQLVFSF NEKLFGLLVK DIEAMDPSIL KGEPATGKRQ KIEVGLVVGN 
SQVAFEKAEN SSLNLIGKAK TKENRQSIIN PDWNFEKMGI GGLDKEFSDI FRRAFASRVF 
PPEIVEQMGC KHVKGILLYG PPGCGKTLLA RQIGKMLNAR EPKVVNGPEI LNKYVGESEA 
NIRKLFADAE EEQRRLGANS GLHIIIFDEI DAICKQRGSM AGSTGVHDTV VNQLLSKIDG 
VEQLNNILVI GMTNRPDLID EALLRPGRLE VKMEIGLPDE KGRLQILHIH TARMRGHQLL 
SADVDIKELA VETKNFSGAE LEGLVRAAQS TAMNRHIKAS TKVEVDMEKA ESLQVTRGDF 
LASLENDIKP AFGTNQEDYA SYIMNGIIKW GDPVTRVLDD GELLVQQTKN SDRTPLVSVL 
LEGPPHSGKT ALAAKIAEES NFPFIKICSP DKMIGFSETA KCQAMKKIFD DAYKSQLSCV 
VVDDIERLLD YVPIGPRFSN LVLQALLVLL KKAPPQGRKL LIIGTTSRKD VLQEMEMLNA 
FSTTIHVPNI ATGEQLLEAL ELLGNFKDKE RTTIAQQVKG KKVWIGIKKL LMLIEMSLQM 
DPEYRVRKFL ALLREEGASP LDFD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.