Human Gene NAPG (uc002kon.3)
  Description: Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.
RefSeq Summary (NM_003826): This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008].
Transcript (Including UTRs)
   Position: hg19 chr18:10,525,873-10,552,766 Size: 26,894 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr18:10,526,100-10,550,217 Size: 24,118 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:10,525,873-10,552,766)mRNA (may differ from genome)Protein (312 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SNAG_HUMAN
DESCRIPTION: RecName: Full=Gamma-soluble NSF attachment protein; Short=SNAP-gamma; AltName: Full=N-ethylmaleimide-sensitive factor attachment protein gamma;
FUNCTION: Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.
SUBUNIT: Binds RIP11. Interacts with VTI1A (By similarity).
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein (By similarity).
SIMILARITY: Belongs to the SNAP family.

-  Primer design for this transcript
 

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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NAPG
CDC HuGE Published Literature: NAPG
Positive Disease Associations: bipolar disorder , Carotid Stenosis , Tumor Necrosis Factor-alpha
Related Studies:
  1. bipolar disorder
    , Analysis of variations in the NAPG gene on chromosome 18p11 in bipolar disorder, Psychiatr Genet 2006 16(1) 3-8. [PubMed 16395123]
    The results of this study suggest that polymorphisms in the human NAPG gene may represent risk factors for the development of bipolar disorder, but before such a role can be established, the results of this study must be confirmed in additional populations of bipolar disorder patients and controls.
  2. Carotid Stenosis
    Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903303]
    The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
  3. Tumor Necrosis Factor-alpha
    Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903293]
    The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.01 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 525.48 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -115.40227-0.508 Picture PostScript Text
3' UTR -645.102549-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000744 - NSF_attach
IPR011990 - TPR-like_helical

Pfam Domains:
PF02071 - Aromatic-di-Alanine (AdAR) repeat
PF14938 - Soluble NSF attachment protein, SNAP

SCOP Domains:
81901 - HCP-like
48452 - TPR-like

ModBase Predicted Comparative 3D Structure on Q99747
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005483 soluble NSF attachment protein activity
GO:0005515 protein binding
GO:0019905 syntaxin binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0006891 intra-Golgi vesicle-mediated transport
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0050821 protein stabilization
GO:0061025 membrane fusion
GO:0065003 macromolecular complex assembly

Cellular Component:
GO:0005739 mitochondrion
GO:0005765 lysosomal membrane
GO:0016020 membrane
GO:0031201 SNARE complex
GO:0043209 myelin sheath
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF211072 - JP 2014500723-A/18575: Polycomb-Associated Non-Coding RNAs.
AK294038 - Homo sapiens cDNA FLJ61104 complete cds, highly similar to Gamma-soluble NSF attachment protein.
U78107 - Homo sapiens gamma SNAP mRNA, complete cds.
AK314495 - Homo sapiens cDNA, FLJ95310, Homo sapiens N-ethylmaleimide-sensitive factor attachment protein,gamma (NAPG), mRNA.
JD262012 - Sequence 243036 from Patent EP1572962.
BC001889 - Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma, mRNA (cDNA clone MGC:1699 IMAGE:3536833), complete cds.
JD062288 - Sequence 43312 from Patent EP1572962.
CU674912 - Synthetic construct Homo sapiens gateway clone IMAGE:100018841 5' read NAPG mRNA.
HQ447805 - Synthetic construct Homo sapiens clone IMAGE:100071148; CCSB003684_01 N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG) gene, encodes complete protein.
KJ897902 - Synthetic construct Homo sapiens clone ccsbBroadEn_07296 NAPG gene, encodes complete protein.
CR536554 - Homo sapiens full open reading frame cDNA clone RZPDo834G1020D for gene NAPG, N-ethylmaleimide-sensitive factor attachment protein, gamma; complete cds, incl. stopcodon.
LQ827714 - Sequence 1 from Patent EP3348278.
AK126942 - Homo sapiens cDNA FLJ44995 fis, clone BRAWH3010602, highly similar to Gamma-soluble NSF attachment protein.
LF343745 - JP 2014500723-A/151248: Polycomb-Associated Non-Coding RNAs.
LF343749 - JP 2014500723-A/151252: Polycomb-Associated Non-Coding RNAs.
LF343750 - JP 2014500723-A/151253: Polycomb-Associated Non-Coding RNAs.
AF131752 - Homo sapiens clone 25059 mRNA sequence.
AK023725 - Homo sapiens cDNA FLJ13663 fis, clone PLACE1011646, highly similar to Homo sapiens clone 25059 mRNA sequence.
JD333007 - Sequence 314031 from Patent EP1572962.
JD108145 - Sequence 89169 from Patent EP1572962.
JD146952 - Sequence 127976 from Patent EP1572962.
JD460438 - Sequence 441462 from Patent EP1572962.
LF343751 - JP 2014500723-A/151254: Polycomb-Associated Non-Coding RNAs.
MA579322 - JP 2018138019-A/151248: Polycomb-Associated Non-Coding RNAs.
MA579326 - JP 2018138019-A/151252: Polycomb-Associated Non-Coding RNAs.
MA579327 - JP 2018138019-A/151253: Polycomb-Associated Non-Coding RNAs.
MA579328 - JP 2018138019-A/151254: Polycomb-Associated Non-Coding RNAs.
MA446649 - JP 2018138019-A/18575: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q99747 (Reactome details) participates in the following event(s):

R-HSA-5694423 NSF and SNAPs bind cis-SNARE complex
R-HSA-6809014 cis-Golgi cis-SNARE binds NSF and SNAPs
R-HSA-6811425 NSF and SNAPs bind cis-SNARE at the ER membrane
R-HSA-6814676 SNAPs and NSF hexamer bind cis-SNARE at the TGN
R-HSA-6814684 cis-SNARE binds SNAPs and NSF hexamer at the TGN
R-HSA-8847637 NSF and SNAPs bind the cis-SNARE at the Golgi
R-HSA-5694425 NSF ATPase activity dissociates cis-SNARE
R-HSA-6811422 NSF ATPase activity dissociates cis-SNARE at the ER
R-HSA-6814678 ATP hydrolysis by NSF disassembles the cis-SNARE at the TGN
R-HSA-6814683 NSF-dependent ATP hydrolysis disassembles the cis-SNARE at the TGN
R-HSA-8847638 ATP hydrolysis by NSF disassembles the cis-SNARE at the Golgi membrane
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network
R-HSA-6811438 Intra-Golgi traffic
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: NM_003826, NP_003817, Q99747, Q9BUV1, SNAG_HUMAN, SNAPG
UCSC ID: uc002kon.3
RefSeq Accession: NM_003826
Protein: Q99747 (aka SNAG_HUMAN)
CCDS: CCDS45827.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003826.2
exon count: 12CDS single in 3' UTR: no RNA size: 3729
ORF size: 939CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2000.00frame shift in genome: no % Coverage: 99.62
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.