Human Gene BET1L (uc001loe.2) Description and Page Index
  Description: Homo sapiens Bet1 golgi vesicular membrane trafficking protein-like (BET1L), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr11:202,924-207,422 Size: 4,499 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr11:205,302-207,321 Size: 2,020 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:202,924-207,422)mRNA (may differ from genome)Protein (111 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: BET1L_HUMAN
DESCRIPTION: RecName: Full=BET1-like protein; AltName: Full=Golgi SNARE with a size of 15 kDa; Short=GOS-15; Short=GS15; AltName: Full=Vesicle transport protein GOS15;
FUNCTION: Vesicle SNARE required for targeting and fusion of retrograde transport vesicles with the Golgi complex. Required for the integrity of the Golgi complex (By similarity).
SUBUNIT: Component of a SNARE complex consisting of STX5, YKT6, GOSR2 and BET1L (By similarity).
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type IV membrane protein (By similarity).
SIMILARITY: Contains 1 t-SNARE coiled-coil homology domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BET1L
CDC HuGE Published Literature: BET1L
Positive Disease Associations: Fibromyoma , Intracranial Aneurysm , mean platelet volume , Platelet Count
Related Studies:
  1. Fibromyoma
    Pei-Chieng Cha et al. Nature genetics 2011, A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids., Nature genetics. [PubMed 21460842]
  2. Intracranial Aneurysm
    Siew-Kee Low et al. Human molecular genetics 2012, Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA., Human molecular genetics. [PubMed 22286173]
  3. mean platelet volume
    Soranzo ,et al. 2009, A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium, Nature genetics 2009 41- 11 : 1182-90. [PubMed 19820697]
           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
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 38.53 RPKM in Pituitary
Total median expression: 1038.82 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -49.80101-0.493 Picture PostScript Text
3' UTR -933.902378-0.393 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
IPR000727 - T_SNARE_dom

ModBase Predicted Comparative 3D Structure on Q9NYM9
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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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

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

Biological Process:
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0015031 protein transport
GO:0042147 retrograde transport, endosome to Golgi
GO:0061025 membrane fusion
GO:2000156 regulation of retrograde vesicle-mediated transport, Golgi to ER

Cellular Component:
GO:0000139 Golgi membrane
GO:0005768 endosome
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031201 SNARE complex


-  Descriptions from all associated GenBank mRNAs
  AY007148 - Homo sapiens clone CDABP0084 mRNA sequence.
BC016945 - Homo sapiens cDNA clone IMAGE:3463333.
BC064025 - Homo sapiens cDNA clone IMAGE:6504202, partial cds.
BX648752 - Homo sapiens mRNA; cDNA DKFZp686C04120 (from clone DKFZp686C04120).
BC032779 - Homo sapiens blocked early in transport 1 homolog (S. cerevisiae)-like, mRNA (cDNA clone MGC:45098 IMAGE:4938985), complete cds.
AF151031 - Homo sapiens HSPC197 mRNA, complete cds.
AK022958 - Homo sapiens cDNA FLJ12896 fis, clone NT2RP2004194, highly similar to BET1-like protein.
AL833842 - Homo sapiens mRNA; cDNA DKFZp727I031 (from clone DKFZp727I031).
BC000688 - Homo sapiens blocked early in transport 1 homolog (S. cerevisiae)-like, mRNA (cDNA clone IMAGE:3349222).
BC018839 - Homo sapiens blocked early in transport 1 homolog (S. cerevisiae)-like, mRNA (cDNA clone IMAGE:3349236).
DQ599092 - Homo sapiens piRNA piR-37158, complete sequence.
AK314273 - Homo sapiens cDNA, FLJ95026.
LF207959 - JP 2014500723-A/15462: Polycomb-Associated Non-Coding RNAs.
BC008971 - Homo sapiens blocked early in transport 1 homolog (S. cerevisiae)-like, mRNA (cDNA clone MGC:863 IMAGE:2966914), complete cds.
DQ590874 - Homo sapiens piRNA piR-57986, complete sequence.
AF234160 - Homo sapiens GS15 (GS15) mRNA, complete cds.
JD483223 - Sequence 464247 from Patent EP1572962.
JD072566 - Sequence 53590 from Patent EP1572962.
JD343517 - Sequence 324541 from Patent EP1572962.
JD493439 - Sequence 474463 from Patent EP1572962.
LF370503 - JP 2014500723-A/178006: Polycomb-Associated Non-Coding RNAs.
EU832497 - Synthetic construct Homo sapiens clone HAIB:100067526; DKFZo008F0429 blocked early in transport 1 homolog (S. cerevisiae)-like protein (BET1L) gene, encodes complete protein.
EU832578 - Synthetic construct Homo sapiens clone HAIB:100067607; DKFZo004F0430 blocked early in transport 1 homolog (S. cerevisiae)-like protein (BET1L) gene, encodes complete protein.
JD101026 - Sequence 82050 from Patent EP1572962.
MA606080 - JP 2018138019-A/178006: Polycomb-Associated Non-Coding RNAs.
MA443536 - JP 2018138019-A/15462: Polycomb-Associated Non-Coding RNAs.

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

Reactome (by CSHL, EBI, and GO)

Protein Q9NYM9 (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-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-8847637 NSF and SNAPs bind the cis-SNARE at the Golgi
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: B3KMY0, BET1L_HUMAN, GS15, NM_001098787, NP_001092257, Q9NYM9
UCSC ID: uc001loe.2
RefSeq Accession: NM_001098787
Protein: Q9NYM9 (aka BET1L_HUMAN)
CCDS: CCDS41582.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001098787.1
exon count: 4CDS single in 3' UTR: no RNA size: 2830
ORF size: 336CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 872.00frame shift in genome: no % Coverage: 99.47
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.