STXBP5L Gene
protein-coding GIFtS: 50
GCID: GC03P120626
|
|
syntaxin binding protein 5-like
| |
Aliases
for STXBP5L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Syntaxin Binding Protein 5-Like1 2 | | Syntaxin-Binding Protein 5-Like2 | | LLGL41 2 3 5 | | Tomosyn-23 | | KIAA10061 3 | | Tomosyn-Like1 | | Lethal(2) Giant Larvae Protein Homolog 42 3 | | Tomosyn-23 |
Export aliases for STXBP5L gene to outside databasesPrevious GC identifers: GC03P121948 GC03P122104 GC03P118001 |
Summaries
for STXBP5L gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: STB5L_HUMAN, Q9Y2K9Function: May play a role in vesicle trafficking and exocytosis (Potential)
|
Genomic Views
for STXBP5L gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the STXBP5L gene promoter:
Sox5 Pax-6 NRSF form 1 IRF-1 NRSF form 2 HNF-1A E2F E2F-1 HNF-1 Sox9
Other transcription factors
Search SABiosciences Chromatin IP Primers for STXBP5L
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STXBP5L |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q13.33 Ensembl cytogenetic band: 3q13.33 HGNC cytogenetic band: 3q13.33-q21.1STXBP5L Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P120626: view genomic region
(about GC identifiers)
Start:
|
120,626,919 bp from pter |
End:
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121,143,608 bp from pter |
Size:
|
516,690 bases |
Orientation:
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plus strand |
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Proteins
for STXBP5L gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: STB5L_HUMAN, Q9Y2K9 (See
protein sequence)Recommended Name: Syntaxin-binding protein 5-like Size: 1186 amino acids; 131887 Da
Subcellular location: Cytoplasm (Potential). Cell membrane; Peripheral membrane protein (Potential). Membrane;Peripheral membrane protein (Potential). Note=Cytoplasmic, and associated with vesicular membranes and the plasmamembrane (Potential)
Sequence caution: Sequence=BAA76850.1; Type=Erroneous initiation;
Secondary accessions: Q4G1B4 Q6PIC3Alternative splicing: 2 isoforms: Q9Y2K9-1 Q9Y2K9-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for STXBP5L: NX_Q9Y2K9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y2K9
STXBP5L Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055795.1
ENSEMBL proteins: ENSP00000273666 ENSP00000420019 ENSP00000420642 ENSP00000419627 ENSP00000420287 ENSP00000420666 ENSP00000419404 ENSP00000420167
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
STXBP5L for ontologies About GeneDecksing
STXBP5L Antibody Products:
Assay Products for STXBP5L: |
Protein
Domains /
Families
for STXBP5L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
STXBP5L for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q9Y2K9ProtoNet protein and cluster: Q9Y2K9 2 Blocks protein families: IPB000664 Lethal(2) giant larvae protein signature IPB001388 Synaptobrevin
UniProtKB/Swiss-Prot: STB5L_HUMAN, Q9Y2K9Similarity: Belongs to the WD repeat L(2)GL familySimilarity: Contains 1 v-SNARE coiled-coil homology domainSimilarity: Contains 14 WD repeats |
Function
for STXBP5L gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: STB5L_HUMAN, Q9Y2K9Function: May play a role in vesicle trafficking and exocytosis (Potential)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STXBP5L (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STXBP5L (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: STXBP5L (NM_014980) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for STXBP5L | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STXBP5L |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STXBP5L |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0019905 | syntaxin binding |
IEA | -- |
STXBP5L for ontologies About GeneDecksing
Animal Models:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Stxbp5l):
STXBP5L for phenotypes About GeneDecksing
|
Pathways & Interactions
for STXBP5L gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for STXBP5L
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
2 Interacting proteins for STXBP5L (Q9Y2K93 ENSP000002736664) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
STXBP5L for ontologies About GeneDecksing
|
Drugs & Compounds
for STXBP5L gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for STXBP5L
Search CenterWatch for drugs/clinical trials and news about STXBP5L / STB5L
|
Transcripts
for STXBP5L gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for STXBP5L gene: NM_014980.2 Unigene Cluster for STXBP5L: Syntaxin binding protein 5-like Hs.477315 [show with all ESTs]Unigene Representative Sequence: NM_0149808 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000273666(uc003eec.4 uc011bji.2) ENST00000471454 ENST00000461772
ENST00000472879 ENST00000497029 ENST00000492541 ENST00000495504 ENST00000471262
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STXBP5L (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STXBP5L (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: STXBP5L (NM_014980) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for STXBP5L | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STXBP5L |
Additional cDNA sequence: AB023223.1 AK296544.1 BC022029.1 BC037531.2 7 DOTS entries: DT.75113486 DT.120907920 DT.406557 DT.101965240 DT.436314 DT.65284142 DT.120897250 13 AceView cDNA sequences: BF732851 AB023223 BC037531 AI634104 AL707547 BC022029 BX953752 AI689875 AA757440 AW614710 BG699559 BE967764 BG704425
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for STXBP5L About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ |
|---|
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| SP1: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 25 | ^ | 26 | ^ | 27 | ^ | 28 |
|---|
|
| SP1: | | | | | | | | | |
| SP2: | | | | | | | | |
ECgene alternative splicing isoforms for STXBP5L
|
Expression
for STXBP5L gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| STXBP5L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTTTAAAGG
About this image
See STXBP5L Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for STXBP5L
SOURCE GeneReport for Unigene cluster: Hs.477315
UniProtKB/Swiss-Prot: STB5L_HUMAN, Q9Y2K9Tissue specificity: Detected in kidney, hippocampus and lung carcinoma
SABiosciences Custom PCR Arrays for STXBP5L
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for STXBP5L
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat STXBP5L | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STXBP5L | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STXBP5L | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STXBP5L |
Orthologs
for STXBP5L gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for STXBP5L gene from 6/20 species (see all 20) About this table
ENSEMBL Gene Tree for STXBP5L (if available)
TreeFam Gene Tree for STXBP5L (if available) |
Paralogs
for STXBP5L gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for STXBP5L gene
- LLGL22 STXBP52 LLGL12
4 SIMAP similar genes for STXBP5L using alignment to 7 protein entries: STB5L_HUMAN (see all proteins):Nbla04300 STXBP5 LLGL2 LLGL1
STXBP5L for paralogs About GeneDecksing
|
Genomic Variants
for STXBP5L gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for STXBP5L (120626919 - 120876919 bp, first 250kb of STXBP5L)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for STXBP5L
10 CNVs: 91492 91496 79867 79866 91494 50913 79868 98422 91495 79869
1 Indel: 91493 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STXBP5L |
|
Disorders
/ Diseases
for STXBP5L gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
STXBP5L for disorders About GeneDecksing
OMIM gene information: 609381
OMIM disorders: --
7  diseases for STXBP5L: About MalaCardshepatitis c lung carcinoma hepatitis fibrosis
carcinoma neuronitis liver fibrosis
Human Genome Epidemiology (HuGE) Navigator: STXBP5L (3 documents)
Export disorders for STXBP5L gene to outside databases
|
Publications
for STXBP5L gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for STXBP5L gene integrated from 9 sources:
(articles sorted by number of sources associating them with STXBP5L) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and characterization of human LLGL4 gene and mouse Llgl4 gene in silico. (PubMed id 14767561)1, 2, 3, 9 Katoh M. and Katoh M. (2004)
- Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (1999)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Multiple variants in toll-like receptor 4 gene modula te risk of liver fibrosis in Caucasians with chronic hepatitis C infection. (PubMed id 19586676)1, 9 Li Y....Sninsky J. (2009)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Tomosyn: a syntaxin-1-binding protein that forms a novel complex in the neurotransmitter release process. (PubMed id 9620695)1 Fujita Y....Takai Y. (1998)
|
External Searches for STXBP5L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing STXBP5L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing STXBP5L gene
(According to HUGE)
About This Section
| |
Specialized Databases showing STXBP5L gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for STXBP5L | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for STXBP5L gene:
Search GeneIP for patents involving STXBP5L
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for STXBP5L gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat STXBP5L | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STXBP5L | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STXBP5L | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STXBP5L | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STXBP5L | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STXBP5L |
| |
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 | | | STXBP5L Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STXBP5L |
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