Human Gene SNAP29 (ENST00000215730.12_4) from GENCODE V47lift37
  Description: synaptosome associated protein 29 (from RefSeq NM_004782.4)
Gencode Transcript: ENST00000215730.12_4
Gencode Gene: ENSG00000099940.12_8
Transcript (Including UTRs)
   Position: hg19 chr22:21,213,295-21,245,502 Size: 32,208 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr22:21,213,399-21,242,124 Size: 28,726 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:21,213,295-21,245,502)mRNA (may differ from genome)Protein (258 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SNP29_HUMAN
DESCRIPTION: RecName: Full=Synaptosomal-associated protein 29; Short=SNAP-29; AltName: Full=Soluble 29 kDa NSF attachment protein; AltName: Full=Vesicle-membrane fusion protein SNAP-29;
FUNCTION: Involved in multiple membrane trafficking steps.
SUBUNIT: Binds tightly to multiple syntaxins.
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Cell junction, synapse, synaptosome. Note=Appears to be mostly membrane-bound, probably via interaction with syntaxins, but a significant portion is cytoplasmic.
TISSUE SPECIFICITY: Found in brain, heart, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas.
DISEASE: Defects in SNAP29 are the cause of CEDNIK syndrome (CEDNIK) [MIM:609528]. CEDNIK is a neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.
SIMILARITY: Belongs to the SNAP-25 family.
SIMILARITY: Contains 1 t-SNARE coiled-coil homology domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SNAP29
Diseases sorted by gene-association score: cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome* (1379), leukodystrophy, hypomyelinating, 2* (283), pelizaeus-merzbacher-like disease* (283), vici syndrome (8), opitz-gbbb syndrome (6), velocardiofacial syndrome (1)
* = Manually curated disease association

-  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: 17.76 RPKM in Testis
Total median expression: 410.39 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 -51.00104-0.490 Picture PostScript Text
3' UTR -1013.903378-0.300 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
IPR000928 - SNAP-25
IPR000727 - T_SNARE_dom

SCOP Domains:
47661 - t-snare proteins
56954 - Outer membrane efflux proteins (OEP)
58038 - SNARE fusion complex

ModBase Predicted Comparative 3D Structure on O95721
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005484 SNAP receptor activity
GO:0005515 protein binding
GO:0019905 syntaxin binding

Biological Process:
GO:0006887 exocytosis
GO:0006903 vesicle targeting
GO:0006914 autophagy
GO:0015031 protein transport
GO:0016082 synaptic vesicle priming
GO:0016240 autophagosome docking
GO:0030030 cell projection organization
GO:0031629 synaptic vesicle fusion to presynaptic active zone membrane
GO:0043312 neutrophil degranulation
GO:0060271 cilium assembly
GO:0061025 membrane fusion
GO:0097352 autophagosome maturation

Cellular Component:
GO:0000139 Golgi membrane
GO:0000421 autophagosome membrane
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005776 autophagosome
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0020018 ciliary pocket membrane
GO:0031201 SNARE complex
GO:0031410 cytoplasmic vesicle
GO:0035577 azurophil granule membrane
GO:0042995 cell projection
GO:0045202 synapse
GO:0060170 ciliary membrane
GO:0098793 presynapse


-  Descriptions from all associated GenBank mRNAs
  AF115436 - Homo sapiens SNAP-29 mRNA, complete cds.
BC009715 - Homo sapiens synaptosomal-associated protein, 29kDa, mRNA (cDNA clone MGC:9432 IMAGE:3900895), complete cds.
CR456582 - Homo sapiens SNAP29 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.SNAP29).
CU013469 - Homo sapiens SNAP29, mRNA (cDNA clone IMAGE:100000439), complete cds, without stop codon, in Gateway system.
CU013181 - Homo sapiens SNAP29, mRNA (cDNA clone IMAGE:100000535), complete cds, with stop codon, in Gateway system.
AB527222 - Synthetic construct DNA, clone: pF1KB3929, Homo sapiens SNAP29 gene for synaptosomal-associated protein, 29kDa, without stop codon, in Flexi system.
KJ898000 - Synthetic construct Homo sapiens clone ccsbBroadEn_07394 SNAP29 gene, encodes complete protein.
BT007357 - Homo sapiens synaptosomal-associated protein, 29kDa mRNA, complete cds.
JD460827 - Sequence 441851 from Patent EP1572962.
JD478934 - Sequence 459958 from Patent EP1572962.
JD150491 - Sequence 131515 from Patent EP1572962.
JD399078 - Sequence 380102 from Patent EP1572962.
DQ590316 - Homo sapiens piRNA piR-57428, complete sequence.
DQ586777 - Homo sapiens piRNA piR-53889, complete sequence.
AK024704 - Homo sapiens cDNA: FLJ21051 fis, clone CAS00488.
JD061607 - Sequence 42631 from Patent EP1572962.
JD284342 - Sequence 265366 from Patent EP1572962.
JD331422 - Sequence 312446 from Patent EP1572962.
JD069048 - Sequence 50072 from Patent EP1572962.
JD431487 - Sequence 412511 from Patent EP1572962.
JD443654 - Sequence 424678 from Patent EP1572962.
JD524258 - Sequence 505282 from Patent EP1572962.
JD446108 - Sequence 427132 from Patent EP1572962.
JD050425 - Sequence 31449 from Patent EP1572962.
JD086415 - Sequence 67439 from Patent EP1572962.
JD242980 - Sequence 224004 from Patent EP1572962.
JD383019 - Sequence 364043 from Patent EP1572962.
JD231075 - Sequence 212099 from Patent EP1572962.
JD527384 - Sequence 508408 from Patent EP1572962.
JD268586 - Sequence 249610 from Patent EP1572962.
JD050042 - Sequence 31066 from Patent EP1572962.
JD488469 - Sequence 469493 from Patent EP1572962.
JD115701 - Sequence 96725 from Patent EP1572962.
JD171478 - Sequence 152502 from Patent EP1572962.
JD163814 - Sequence 144838 from Patent EP1572962.
JD067073 - Sequence 48097 from Patent EP1572962.
JD395535 - Sequence 376559 from Patent EP1572962.
JD555594 - Sequence 536618 from Patent EP1572962.
JD205345 - Sequence 186369 from Patent EP1572962.
JD543275 - Sequence 524299 from Patent EP1572962.
JD478589 - Sequence 459613 from Patent EP1572962.
JD463835 - Sequence 444859 from Patent EP1572962.
JD148324 - Sequence 129348 from Patent EP1572962.
JD249880 - Sequence 230904 from Patent EP1572962.
JD537340 - Sequence 518364 from Patent EP1572962.
JD537341 - Sequence 518365 from Patent EP1572962.
JD099943 - Sequence 80967 from Patent EP1572962.
JD223955 - Sequence 204979 from Patent EP1572962.
JD412013 - Sequence 393037 from Patent EP1572962.
JD136076 - Sequence 117100 from Patent EP1572962.
JD136077 - Sequence 117101 from Patent EP1572962.

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

Protein O95721 (Reactome details) participates in the following event(s):

R-HSA-6798739 Exocytosis of azurophil granule membrane proteins
R-HSA-6811433 The COG tethering complex interacts with numerous SNAREs at the Golgi membrane
R-HSA-6798695 Neutrophil degranulation
R-HSA-6811438 Intra-Golgi traffic
R-HSA-168249 Innate Immune System
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-168256 Immune System
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000215730.1, ENST00000215730.10, ENST00000215730.11, ENST00000215730.2, ENST00000215730.3, ENST00000215730.4, ENST00000215730.5, ENST00000215730.6, ENST00000215730.7, ENST00000215730.8, ENST00000215730.9, NM_004782, O95721, SNAP29 , SNP29_HUMAN, uc317cmm.1, uc317cmm.2
UCSC ID: ENST00000215730.12_4
RefSeq Accession: NM_004782.4
Protein: O95721 (aka SNP29_HUMAN or SN29_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.