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Aliases for BET1L Gene

Aliases for BET1L Gene

  • Bet1 Golgi Vesicular Membrane Trafficking Protein Like 2 3 5
  • Golgi Integral Membrane Protein 3 2 3
  • Golgi SNARE With A Size Of 15 KDa 3 4
  • Vesicle Transport Protein GOS15 3 4
  • GOS-15 3 4
  • GS15 3 4
  • Blocked Early In Transport 1 Homolog (S. Cerevisiae) Like 2
  • Blocked Early In Transport 1 Homolog (S. Cerevisiae)-Like 2
  • Bet1 Golgi Vesicular Membrane Trafficking Protein-Like 2
  • Blocked Early In Transport 1 Homolog-Like 3
  • Golgi SNARE 15 KDa Protein 3
  • BET1-Like Protein 3
  • HSPC197 3
  • BET1L1 3
  • GOLIM3 3

External Ids for BET1L Gene

Previous GeneCards Identifiers for BET1L Gene

  • GC11U990259
  • GC11P000102
  • GC11P000991
  • GC11M000022

Summaries for BET1L Gene

GeneCards Summary for BET1L Gene

BET1L (Bet1 Golgi Vesicular Membrane Trafficking Protein Like) is a Protein Coding gene. Diseases associated with BET1L include Uterine Fibroid and Uterine Benign Neoplasm. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. GO annotations related to this gene include SNAP receptor activity. An important paralog of this gene is BET1.

UniProtKB/Swiss-Prot for BET1L Gene

  • 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).

Gene Wiki entry for BET1L Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BET1L Gene

Genomics for BET1L Gene

Regulatory Elements for BET1L Gene

Enhancers for BET1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around BET1L on UCSC Golden Path with GeneCards custom track

Promoters for BET1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for BET1L Gene

Chromosome:
11
Start:
167,784 bp from pter
End:
207,428 bp from pter
Size:
39,645 bases
Orientation:
Minus strand

Genomic View for BET1L Gene

Genes around BET1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BET1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BET1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BET1L Gene

Proteins for BET1L Gene

  • Protein details for BET1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYM9-BET1L_HUMAN
    Recommended name:
    BET1-like protein
    Protein Accession:
    Q9NYM9
    Secondary Accessions:
    • B3KMY0

    Protein attributes for BET1L Gene

    Size:
    111 amino acids
    Molecular mass:
    12388 Da
    Quaternary structure:
    • Component of a SNARE complex consisting of STX5, YKT6, GOSR2 and BET1L.

neXtProt entry for BET1L Gene

Post-translational modifications for BET1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BET1L Gene

No data available for DME Specific Peptides for BET1L Gene

Domains & Families for BET1L Gene

Gene Families for BET1L Gene

Protein Domains for BET1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BET1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NYM9

UniProtKB/Swiss-Prot:

BET1L_HUMAN :
  • Contains 1 t-SNARE coiled-coil homology domain.
Domain:
  • Contains 1 t-SNARE coiled-coil homology domain.
genes like me logo Genes that share domains with BET1L: view

Function for BET1L Gene

Molecular function for BET1L Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for BET1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005484 SNAP receptor activity IDA 15215310
genes like me logo Genes that share ontologies with BET1L: view
genes like me logo Genes that share phenotypes with BET1L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BET1L Gene

Localization for BET1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for BET1L Gene

Golgi apparatus membrane; Single-pass type IV membrane protein. Golgi apparatus, trans-Golgi network membrane. Note=Present throughout the Golgi apparatus, with increasing concentration from cis-Golgi to the trans-Golgi face of the stacks. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BET1L Gene COMPARTMENTS Subcellular localization image for BET1L gene
Compartment Confidence
golgi apparatus 5
endosome 4
cytosol 3
nucleus 2
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BET1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005768 endosome IDA 15215310
GO:0005794 Golgi apparatus IDA 15215310
GO:0005795 Golgi stack IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with BET1L: view

Pathways & Interactions for BET1L Gene

genes like me logo Genes that share pathways with BET1L: view

Gene Ontology (GO) - Biological Process for BET1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0015031 protein transport IEA --
GO:0042147 retrograde transport, endosome to Golgi IDA 15215310
GO:0061025 membrane fusion IEA --
GO:2000156 regulation of retrograde vesicle-mediated transport, Golgi to ER IMP 17389686
genes like me logo Genes that share ontologies with BET1L: view

No data available for SIGNOR curated interactions for BET1L Gene

Drugs & Compounds for BET1L Gene

No Compound Related Data Available

Transcripts for BET1L Gene

Unigene Clusters for BET1L Gene

Bet1 golgi vesicular membrane trafficking protein-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BET1L Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5: - - - - - - - - -
SP6: -
SP7: -
SP8: - - -
SP9: - - -

Relevant External Links for BET1L Gene

GeneLoc Exon Structure for
BET1L
ECgene alternative splicing isoforms for
BET1L

Expression for BET1L Gene

mRNA expression in normal human tissues for BET1L Gene

Protein differential expression in normal tissues from HIPED for BET1L Gene

This gene is overexpressed in Bone (29.0) and Peripheral blood mononuclear cells (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BET1L Gene



Protein tissue co-expression partners for BET1L Gene

NURSA nuclear receptor signaling pathways regulating expression of BET1L Gene:

BET1L

SOURCE GeneReport for Unigene cluster for BET1L Gene:

Hs.414418
genes like me logo Genes that share expression patterns with BET1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BET1L Gene

Orthologs for BET1L Gene

This gene was present in the common ancestor of animals.

Orthologs for BET1L Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BET1L 34
  • 88.59 (n)
  • 96.4 (a)
BET1L 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BET1L 34
  • 88.29 (n)
  • 93.69 (a)
BET1L 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bet1l 34
  • 84.38 (n)
  • 90.99 (a)
Bet1l 16
Bet1l 35
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BET1L 34
  • 98.8 (n)
  • 98.2 (a)
BET1L 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bet1l 34
  • 85.29 (n)
  • 90.99 (a)
oppossum
(Monodelphis domestica)
Mammalia BET1L 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BET1L 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves BET1L 34
  • 73.87 (n)
  • 73.87 (a)
BET1L 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BET1L 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bet1l 34
  • 66.07 (n)
  • 64.86 (a)
zebrafish
(Danio rerio)
Actinopterygii bet1l 34
  • 67.58 (n)
  • 70.64 (a)
bet1l 35
  • 37 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1115 34
fruit fly
(Drosophila melanogaster)
Insecta Bet1 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nbet-1 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToOne
Species where no ortholog for BET1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BET1L Gene

ENSEMBL:
Gene Tree for BET1L (if available)
TreeFam:
Gene Tree for BET1L (if available)

Paralogs for BET1L Gene

Paralogs for BET1L Gene

(3) SIMAP similar genes for BET1L Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with BET1L: view

Variants for BET1L Gene

Sequence variations from dbSNP and Humsavar for BET1L Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1045454 -- 204,228(-) TCTTC(C/T)CACCT utr-variant-3-prime
rs10400290 -- 203,892(+) GTCCA(A/G)GTCAC utr-variant-3-prime
rs14677 -- 203,292(+) AAGTA(A/C)CTGGG utr-variant-3-prime
rs2280543 -- 203,788(+) GTCAA(C/T)CTTGC utr-variant-3-prime
rs2280544 -- 204,062(+) GGACA(C/T)ATGGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for BET1L Gene

Variant ID Type Subtype PubMed ID
dgv1010n100 CNV gain 25217958
dgv1011n100 CNV gain 25217958
dgv1012n100 CNV gain 25217958
dgv1505n54 CNV gain 21841781
esv22231 CNV gain 19812545
esv3625060 CNV gain 21293372
esv3625061 CNV gain 21293372
esv3625062 CNV loss 21293372
nsv1052484 CNV gain 25217958
nsv467630 CNV gain 19166990
nsv467631 CNV gain 19166990
nsv522596 CNV gain 19592680
nsv552762 CNV gain 21841781
nsv552765 CNV gain 21841781
nsv951267 CNV deletion 24416366

Variation tolerance for BET1L Gene

Residual Variation Intolerance Score: 48.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BET1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BET1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BET1L Gene

Disorders for BET1L Gene

MalaCards: The human disease database

(3) MalaCards diseases for BET1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
uterine fibroid
  • leiomyoma of corpus uteri
uterine benign neoplasm
reproductive organ benign neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search BET1L in MalaCards View complete list of genes associated with diseases

Relevant External Links for BET1L

Genetic Association Database (GAD)
BET1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BET1L
genes like me logo Genes that share disorders with BET1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BET1L Gene

Publications for BET1L Gene

  1. Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA. (PMID: 22286173) Low S.K. … Nakamura Y. (Hum. Mol. Genet. 2012) 3 46 65
  2. A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. (PMID: 21460842) Cha P.C. … Nakamura Y. (Nat. Genet. 2011) 3 46 65
  3. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PMID: 19820697) Soranzo N. … Gieger C. (Nat. Genet. 2009) 3 46 65
  4. The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins. (PMID: 15004235) Oka T. … Krieger M. (Mol. Biol. Cell 2004) 2 3 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for BET1L Gene

Sources for BET1L Gene

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