Human Gene STX16 (uc021wfi.1)
  Description: Homo sapiens syntaxin 16 (STX16), transcript variant 5, mRNA.
RefSeq Summary (NM_001204868): This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011].
Transcript (Including UTRs)
   Position: hg19 chr20:57,226,309-57,254,582 Size: 28,274 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr20:57,242,561-57,251,347 Size: 8,787 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:57,226,309-57,254,582)mRNA (may differ from genome)Protein (272 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: STX16_HUMAN
DESCRIPTION: RecName: Full=Syntaxin-16; Short=Syn16;
FUNCTION: SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network.
SUBUNIT: Interacts with GCC2.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type IV membrane protein.
SUBCELLULAR LOCATION: Isoform C: Cytoplasm.
TISSUE SPECIFICITY: Ubiquitous.
DISEASE: Genetic variations in STX16 may be a cause of pseudohypoparathyroidism type 1B (PHP1B) [MIM:603233]. Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid hormone (PTH). PHP1B is characterized by PTH-resistant hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. In some cases microdeletions involving STX16 appear to cause loss of methylation at exon A/B of the GNAS gene, resulting in PHP1B.
SIMILARITY: Belongs to the syntaxin family.
SIMILARITY: Contains 1 t-SNARE coiled-coil homology domain.
SEQUENCE CAUTION: Sequence=AAB69282.1; Type=Frameshift; Positions=142, 163, 165; Sequence=AAB69283.1; Type=Frameshift; Positions=142, 163, 165; Sequence=AAC05647.1; Type=Frameshift; Positions=142, 163, 165;

-  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: STX16
Diseases sorted by gene-association score: pseudohypoparathyroidism, type ib* (1391), pseudohypoparathyroidism (34), pseudohypoparathyroidism ia (13), pseudopseudohypoparathyroidism (12), hyperphosphatemia (8), phosphorus metabolism disease (6), metal metabolism disorder (5)
* = 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: 70.40 RPKM in Pituitary
Total median expression: 1955.06 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 -117.90275-0.429 Picture PostScript Text
3' UTR -1011.413235-0.313 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
IPR006012 - Syntaxin/epimorphin_CS
IPR006011 - Syntaxin_N
IPR010989 - t-SNARE
IPR000727 - T_SNARE_dom

Pfam Domains:
PF00804 - Syntaxin
PF05739 - SNARE domain

SCOP Domains:
47661 - t-snare proteins

ModBase Predicted Comparative 3D Structure on O14662
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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 orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  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:0006886 intracellular protein transport
GO:0006906 vesicle fusion
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0042147 retrograde transport, endosome to Golgi
GO:0048278 vesicle docking
GO:0090161 Golgi ribbon formation

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031201 SNARE complex
GO:0031985 Golgi cisterna
GO:0032588 trans-Golgi network membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0048471 perinuclear region of cytoplasm
GO:0005783 endoplasmic reticulum


-  Descriptions from all associated GenBank mRNAs
  AB209296 - Homo sapiens mRNA for syntaxin 16 isoform a variant protein.
AK316547 - Homo sapiens cDNA, FLJ79446 complete cds, highly similar to Syntaxin-16.
AK304867 - Homo sapiens cDNA FLJ60226 complete cds, highly similar to Syntaxin-16.
BC019042 - Homo sapiens syntaxin 16, mRNA (cDNA clone MGC:20765 IMAGE:4585425), complete cds.
AF008935 - Homo sapiens syntaxin-16A mRNA, complete cds.
AF008936 - Homo sapiens syntaxin-16B mRNA, complete cds.
AF008937 - Homo sapiens syntaxin-16C mRNA, complete cds.
BC073876 - Homo sapiens syntaxin 16, mRNA (cDNA clone MGC:90328 IMAGE:4371823), complete cds.
AF428146 - Homo sapiens syntaxin-16D mRNA, complete cds.
AF038897 - Homo sapiens syntaxin 16 mRNA, complete cds.
AK026970 - Homo sapiens cDNA: FLJ23317 fis, clone HEP12062, highly similar to AF008936 Homo sapiens syntaxin-16B mRNA.
AK296282 - Homo sapiens cDNA FLJ57384 complete cds, highly similar to Syntaxin-16.
KM576712 - Homo sapiens clone STX16-NPEPL1_S8-N2a-N3out mRNA sequence.
KM576713 - Homo sapiens clone STX16-NPEPL1_S8-N2b-N3out mRNA sequence.
KM576714 - Homo sapiens clone STX16-NPEPL1_S8-intergenicexons1_2-N2b-N3out mRNA sequence.
KM576711 - Homo sapiens clone STX16-NPEPL1_S8-intergenicexon2-N2a-N3out mRNA sequence.
AK026974 - Homo sapiens cDNA: FLJ23321 fis, clone HEP12396.
DQ268529 - Homo sapiens syntaxin 16 isoform C-like protein (STX16) mRNA, 3' UTR.
AF305817 - Homo sapiens PRO0715 mRNA, complete cds.
DQ272217 - Homo sapiens syntaxin 16 (STX16) mRNA, 3' UTR.
JD340812 - Sequence 321836 from Patent EP1572962.
JD348284 - Sequence 329308 from Patent EP1572962.
JD556306 - Sequence 537330 from Patent EP1572962.
JD556305 - Sequence 537329 from Patent EP1572962.
JD522254 - Sequence 503278 from Patent EP1572962.
JD522253 - Sequence 503277 from Patent EP1572962.
JD104978 - Sequence 86002 from Patent EP1572962.
JD317526 - Sequence 298550 from Patent EP1572962.
JD069504 - Sequence 50528 from Patent EP1572962.
JD540399 - Sequence 521423 from Patent EP1572962.
JD199453 - Sequence 180477 from Patent EP1572962.
JD179070 - Sequence 160094 from Patent EP1572962.
DQ589075 - Homo sapiens piRNA piR-56187, complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04130 - SNARE interactions in vesicular transport

Reactome (by CSHL, EBI, and GO)

Protein O14662 (Reactome details) participates in the following event(s):

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-6811433 The COG tethering complex interacts with numerous SNAREs at the Golgi membrane
R-HSA-6811431 RAB6:GTP binds the GARP and COG complexes, t-SNAREs and endosome-derived vesicles
R-HSA-6814674 Tethering of late endosome-derived vesicles by GARP, STX10:ST16:VTI1A and Golgins
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-6811440 Retrograde transport at the Trans-Golgi-Network
R-HSA-6811438 Intra-Golgi traffic
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A6NK32, A6NN69, A8MPP0, B7ZBN1, B7ZBN2, B7ZBN3, E1P607, NM_001204868, NP_001191797, O14661, O14662, O14663, O60517, Q5W084, Q5W086, Q5W087, Q5XKI6, Q6GMS8, Q9H0Z0, Q9H1T7, Q9H1T8, Q9UIX5, STX16_HUMAN
UCSC ID: uc021wfi.1
RefSeq Accession: NM_001204868
Protein: O14662 (aka STX16_HUMAN or STXF_HUMAN)
CCDS: CCDS56199.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene STX16:
gnas-dis (Disorders of GNAS Inactivation)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001204868.1
exon count: 10CDS single in 3' UTR: no RNA size: 4340
ORF size: 819CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 1807.00frame shift in genome: no % Coverage: 99.75
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
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.