Human Gene BET1L (uc001loe.2)
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Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
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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.
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Primer design for this transcript
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Genetic Association Studies of Complex Diseases and Disorders
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Genetic Association Database (archive): BET1L
CDC HuGE Published Literature: BET1L
Positive Disease Associations: Fibromyoma
, Intracranial Aneurysm
, mean platelet volume
, Platelet Count
Related Studies: - 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]
- 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]
- 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]
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Comparative Toxicogenomics Database (CTD)
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Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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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.
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Protein Domain and Structure Information
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InterPro Domains: Graphical view of domain structure IPR000727 - T_SNARE_dom
ModBase Predicted Comparative 3D Structure on Q9NYM9
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.
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Orthologous Genes in Other Species
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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.
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Gene Ontology (GO) Annotations with Structured Vocabulary
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Descriptions from all associated GenBank mRNAs
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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.
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Biochemical and Signaling Pathways
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Other Names for This Gene
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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
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Gene Model Information
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category:
| coding
| nonsense-mediated-decay:
| no
| RNA accession:
| NM_001098787.1
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exon count:
| 4 | CDS single in 3' UTR:
| no
| RNA size:
| 2830 |
ORF size:
| 336 | CDS single in intron:
| no
| Alignment % ID:
| 100.00 |
txCdsPredict score:
| 872.00 | frame 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 |
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for a detailed description of the fields of the table above.
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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