Human Gene GOSR1 (uc002hfe.3)
  Description: Homo sapiens golgi SNAP receptor complex member 1 (GOSR1), transcript variant 1, mRNA.
RefSeq Summary (NM_004871): This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr17:28,804,426-28,853,832 Size: 49,407 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr17:28,804,452-28,849,396 Size: 44,945 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
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 (chr17:28,804,426-28,853,832)mRNA (may differ from genome)Protein (250 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDHuman Cortex Gene ExpressionLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GOSR1_HUMAN
DESCRIPTION: RecName: Full=Golgi SNAP receptor complex member 1; AltName: Full=28 kDa Golgi SNARE protein; AltName: Full=28 kDa cis-Golgi SNARE p28; Short=GOS-28;
FUNCTION: Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide- sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an important physiological role in VLDL-transport vesicle-Golgi fusion and thus in VLDL delivery to the hepatic cis-Golgi.
SUBUNIT: Component of several multiprotein Golgi SNARE complexes. Identified in a SNARE complex with BET1, STX5 and YKT6, in a SNARE complex with BET1L, STX5 and YKT6, in a SNARE complex with STX5, GOSR2, SEC22B and BET1, and in complex with STX5 and COG3. Interacts with GABARAPL2 (By similarity).
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type IV membrane protein. Note=Enriched on vesicular components at the terminal rims of the Golgi. Found in Golgi microtubules at low temperature (15 degrees Celsius).
INDUCTION: Expression induced by hydrogen peroxide in neuronal cells. By monocrotaline in pulmonary epithelial cells (at protein level). Negatively regulated by OSBPL7 via GABARAPL2 leading to degradation on proteasomes (at protein level).
SIMILARITY: Belongs to the GOSR1 family.

-  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: GOSR1
Diseases sorted by gene-association score: chromosome 17q11.2 deletion syndrome, 1.4-mb (2)

-  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: 6.95 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 228.98 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 -4.9026-0.188 Picture PostScript Text
3' UTR -1491.424436-0.336 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
IPR023601 - Golgi_SNAP_su1

Pfam Domains:
PF12352 - Snare region anchored in the vesicle membrane C-terminus

ModBase Predicted Comparative 3D Structure on O95249
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 orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000149 SNARE binding
GO:0005484 SNAP receptor activity

Biological Process:
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0006891 intra-Golgi vesicle-mediated transport
GO:0006906 vesicle fusion
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0042147 retrograde transport, endosome to Golgi
GO:0048209 regulation of vesicle targeting, to, from or within Golgi

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0005797 Golgi medial cisterna
GO:0005801 cis-Golgi network
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030133 transport vesicle
GO:0031201 SNARE complex


-  Descriptions from all associated GenBank mRNAs
  AK291381 - Homo sapiens cDNA FLJ77138 complete cds, highly similar to Homo sapiens golgi SNAP receptor complex member 1 (GOSR1), transcript variant 1, mRNA.
AK000606 - Homo sapiens cDNA FLJ20599 fis, clone KAT07688, highly similar to AF047438 Homo sapiens GOS28/P28 protein mRNA.
AK298714 - Homo sapiens cDNA FLJ58038 complete cds, highly similar to Golgi SNAP receptor complex member 1.
AF047438 - Homo sapiens GOS28/P28 protein mRNA, complete cds.
AF073926 - Homo sapiens cis-Golgi SNARE p28 (GS28) mRNA, complete cds.
BC040471 - Homo sapiens golgi SNAP receptor complex member 1, mRNA (cDNA clone MGC:32615 IMAGE:4697067), complete cds.
KC119452 - Homo sapiens cell-line SeAx androgen-induced 1/Golgi SNAP receptor complex member 1 variant 2 fusion protein (AIG1/GOSR1 fusion) mRNA, partial cds.
BC012620 - Homo sapiens golgi SNAP receptor complex member 1, mRNA (cDNA clone MGC:13657 IMAGE:4250494), complete cds.
KJ904628 - Synthetic construct Homo sapiens clone ccsbBroadEn_14022 GOSR1 gene, encodes complete protein.
AK128816 - Homo sapiens cDNA FLJ46071 fis, clone TESOP2009247.
KC119451 - Homo sapiens cell-line SeAx androgen-induced 1/Golgi SNAP receptor complex member 1 variant 1 fusion protein (AIG1/GOSR1 fusion) mRNA, partial cds.
DQ578909 - Homo sapiens piRNA piR-47021, complete sequence.
JD550456 - Sequence 531480 from Patent EP1572962.
JD162035 - Sequence 143059 from Patent EP1572962.
JD267127 - Sequence 248151 from Patent EP1572962.
JD319128 - Sequence 300152 from Patent EP1572962.
JD088967 - Sequence 69991 from Patent EP1572962.
DQ579541 - Homo sapiens piRNA piR-47653, complete sequence.
JD375681 - Sequence 356705 from Patent EP1572962.
JD309952 - Sequence 290976 from Patent EP1572962.
JD352968 - Sequence 333992 from Patent EP1572962.
JD526283 - Sequence 507307 from Patent EP1572962.
JD256763 - Sequence 237787 from Patent EP1572962.
JD152665 - Sequence 133689 from Patent EP1572962.
JD159742 - Sequence 140766 from Patent EP1572962.
JD213013 - Sequence 194037 from Patent EP1572962.
JD213012 - Sequence 194036 from Patent EP1572962.
DQ583196 - Homo sapiens piRNA piR-50308, complete sequence.
JD321888 - Sequence 302912 from Patent EP1572962.
JD134506 - Sequence 115530 from Patent EP1572962.
JD416230 - Sequence 397254 from Patent EP1572962.
DQ575471 - Homo sapiens piRNA piR-43583, complete sequence.
BC017035 - Homo sapiens cDNA clone IMAGE:3847788, partial cds.
JD271373 - Sequence 252397 from Patent EP1572962.
JD412581 - Sequence 393605 from Patent EP1572962.
DQ599726 - Homo sapiens piRNA piR-37792, complete sequence.
DQ574987 - Homo sapiens piRNA piR-43099, complete sequence.
JD311576 - Sequence 292600 from Patent EP1572962.
DQ575296 - Homo sapiens piRNA piR-43408, complete sequence.
DQ577286 - Homo sapiens piRNA piR-45398, complete sequence.
DQ601422 - Homo sapiens piRNA piR-39488, complete sequence.
DQ588541 - Homo sapiens piRNA piR-55653, complete sequence.
DQ571050 - Homo sapiens piRNA piR-31162, complete sequence.
JD265711 - Sequence 246735 from Patent EP1572962.
BC040072 - Homo sapiens golgi SNAP receptor complex member 1, mRNA (cDNA clone IMAGE:5001859).
DQ578550 - Homo sapiens piRNA piR-46662, complete sequence.
DQ591787 - Homo sapiens piRNA piR-58899, complete sequence.
DQ591044 - Homo sapiens piRNA piR-58156, complete sequence.
DQ586319 - Homo sapiens piRNA piR-53431, complete sequence.
DQ586320 - Homo sapiens piRNA piR-53432, complete sequence.
JD549343 - Sequence 530367 from Patent EP1572962.
JD180503 - Sequence 161527 from Patent EP1572962.
JD046598 - Sequence 27622 from Patent EP1572962.
JD174076 - Sequence 155100 from Patent EP1572962.
JD048092 - Sequence 29116 from Patent EP1572962.
AK074298 - Homo sapiens cDNA FLJ23718 fis, clone HEP13678.
AL049346 - Homo sapiens mRNA; cDNA DKFZp566B213 (from clone DKFZp566B213).

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

Reactome (by CSHL, EBI, and GO)

Protein O95249 (Reactome details) participates in the following event(s):

R-HSA-8847638 ATP hydrolysis by NSF disassembles the cis-SNARE at the Golgi membrane
R-HSA-8847544 The COG complex and CUX1 and GOLGA5 dimers contribute to intra-Golgi vesicle tethering
R-HSA-8847637 NSF and SNAPs bind the cis-SNARE at the Golgi
R-HSA-6811433 The COG tethering complex interacts with numerous SNAREs at the Golgi membrane
R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle
R-HSA-6809014 cis-Golgi cis-SNARE binds NSF and SNAPs
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811438 Intra-Golgi traffic
R-HSA-199977 ER to Golgi Anterograde 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: GOSR1_HUMAN, GS28, NM_004871, NP_001007025, O75392, O95249
UCSC ID: uc002hfe.3
RefSeq Accession: NM_004871
Protein: O95249 (aka GOSR1_HUMAN)
CCDS: CCDS11258.1, CCDS45643.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004871.2
exon count: 9CDS single in 3' UTR: no RNA size: 5230
ORF size: 753CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1706.00frame shift in genome: no % Coverage: 99.71
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.