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Aliases for BET1L Gene

Aliases for BET1L Gene

  • Bet1 Golgi Vesicular Membrane Trafficking Protein Like 2 3 5
  • Golgi SNARE With A Size Of 15 KDa 3 4
  • Golgi Integral Membrane Protein 3 2 3
  • 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
  • GC11M000192
  • GC11M000022
  • GC11M000195

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 Benign Neoplasm and Reproductive Organ Benign Neoplasm. Among its related pathways are Transport to the Golgi and subsequent modification and Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics. Gene Ontology (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

Additional gene information for BET1L Gene

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

Genomics for BET1L Gene

GeneHancer (GH) Regulatory Elements for BET1L Gene

Promoters and enhancers for BET1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J000205 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 662.2 -1.3 -1284 6 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B RIC8A BET1L GC11P000208 MIR6743 PSMD13 PIDD1 TMEM80 ENSG00000255158 PIR57925
GH11J000574 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 36.6 -371.0 -370953 6.9 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 PHRF1 TMEM80 SNORA52 BET1L ENSG00000255237 RIC8A TSPAN4 PSMD13 PIDD1 RPLP2
GH11J000266 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 43.1 -62.6 -62624 6.8 HDGF PKNOX1 FOXA2 SMAD1 ARNT IRF4 YY1 POLR2B ZNF766 CBX5 PIR53591 RIC8A TMEM80 BET1L PHRF1 IFITM2 PSMD13 SNORA52 PIDD1 SIRT3
GH11J000303 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.5 -105.2 -105187 17.8 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A YY1 POLR2B ZNF766 IFITM2 IFITM3 ENSG00000254910 IFITM1 TMEM80 PGGHG PIDD1 PHRF1 ENSG00000270030 BET1L
GH11J000807 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 25.1 -603.6 -603559 6.2 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC RPLP2 PIDD1 SNORA52 GC11P000839 GC11P000813 GC11P000812 TMEM80 ENSG00000255108 PHRF1 BET1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BET1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BET1L gene promoter:

Genomic Locations for BET1L Gene

Genomic Locations for BET1L Gene
chr11:167,784-207,428
(GRCh38/hg38)
Size:
39,645 bases
Orientation:
Minus strand
chr11:167,784-207,428
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

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

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

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).

Phenotypes From GWAS Catalog for BET1L Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BET1L

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BET1L gene
Compartment Confidence
golgi apparatus 5
cytosol 4
endosome 4
nucleus 2
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

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:0005829 cytosol IEA --
GO:0016020 membrane IEA,HDA 19946888
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

mRNA/cDNA for BET1L Gene

Unigene Clusters for BET1L Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BET1L

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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

Evidence on tissue expression from TISSUES for BET1L Gene

  • Nervous system(3.6)
  • Intestine(2.5)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with BET1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia BET1L 34 33
  • 98.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BET1L 34 33
  • 88.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BET1L 34 33
  • 88.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bet1l 33
  • 85.29 (n)
mouse
(Mus musculus)
Mammalia Bet1l 16 34 33
  • 84.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BET1L 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BET1L 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves BET1L 34 33
  • 73.87 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BET1L 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bet1l 33
  • 66.07 (n)
zebrafish
(Danio rerio)
Actinopterygii bet1l 34 33
  • 67.58 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1115 33
fruit fly
(Drosophila melanogaster)
Insecta Bet1 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nbet-1 34
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BET1L: view image

Paralogs for BET1L Gene

Paralogs for BET1L Gene

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

  • BET1L_HUMAN
  • B8ZZS0_HUMAN
  • E9PHY4_HUMAN
  • E9PQJ6_HUMAN
  • H7BXT7_HUMAN
  • Q9P0S7_HUMAN
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 Variation AA Info Type
rs1000026443 -- 209,151(-) G/A upstream_transcript_variant
rs1000211245 -- 203,704(-) G/C/T 3_prime_UTR_variant
rs1000463030 -- 208,998(-) G/A/C/T upstream_transcript_variant
rs1000464743 -- 205,470(-) C/T splice_acceptor_variant, synonymous_variant, terminator_codon_variant
rs1000586469 -- 206,898(-) A/G intron_variant

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)

Additional Variant Information for BET1L Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BET1L Gene

MalaCards: The human disease database

(2) MalaCards diseases for BET1L Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search BET1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 SK … Nakamura Y (Human molecular genetics 2012) 3 44 58
  2. A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. (PMID: 21460842) Cha PC … Nakamura Y (Nature genetics 2011) 3 44 58
  3. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PMID: 19820697) Soranzo N … Gieger C (Nature genetics 2009) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for BET1L Gene

Sources for BET1L Gene

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