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Aliases for VTI1B Gene

Aliases for VTI1B Gene

  • Vesicle Transport Through Interaction With T-SNAREs 1B 2 3 5
  • Vesicle Transport V-SNARE Protein Vti1-Like 1 3 4
  • Vti1-Rp1 3 4
  • VTI1L 3 4
  • VTI1 3 4
  • VTI2 3 4
  • Vesicle Transport Through Interaction With T-SNAREs Homolog 1B (Yeast) 2
  • Vesicle Transport Through Interaction With T-SNAREs Homolog 1B 3
  • Vesicle-Associated Soluble NSF Attachment Protein Receptor 3
  • VTI1-LIKE 3
  • V-SNARE 3
  • VTI1L1 4

External Ids for VTI1B Gene

Previous GeneCards Identifiers for VTI1B Gene

  • GC14M061911
  • GC14M066103
  • GC14M066107
  • GC14M067187
  • GC14M068117
  • GC14M048287

Summaries for VTI1B Gene

GeneCards Summary for VTI1B Gene

VTI1B (Vesicle Transport Through Interaction With T-SNAREs 1B) is a Protein Coding gene. Diseases associated with VTI1B include Hypomyelinating Leukodystrophy. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). GO annotations related to this gene include SNARE binding and chloride channel inhibitor activity. An important paralog of this gene is VTI1A.

UniProtKB/Swiss-Prot for VTI1B Gene

  • V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. May be concerned with increased secretion of cytokines associated with cellular senescence.

Gene Wiki entry for VTI1B Gene

Additional gene information for VTI1B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VTI1B Gene

Genomics for VTI1B Gene

Regulatory Elements for VTI1B Gene

Enhancers for VTI1B 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
GH14H068277 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -607.7 -607744 9 HDGF PKNOX1 FOXA2 DMAP1 YY1 ZNF766 ZNF143 ZNF207 ATF7 RUNX3 PPIAP6 VTI1B RAD51B GC14P068302 RN7SL108P
GH14H068290 1.6 Ensembl ENCODE dbSUPER 4.7 -620.0 -619993 7 HDGF PKNOX1 FOXA2 ARNT ARID4B FEZF1 DMAP1 YBX1 ZNF766 SP5 ZFYVE26 VTI1B GC14P068302 RN7SL108P
GH14H067650 0.4 ENCODE 17.6 +23.9 23859 1 CEBPB VTI1B ENSG00000201529 ARG2 GC14M067653
GH14H067738 1.2 Ensembl ENCODE 5 -64.2 -64234 1 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 YY1 ATF7 FOS ZNF202 ZFYVE26 RDH11 RDH12 PIGH VTI1B ENSG00000271697 RN7SL213P
GH14H067666 1 Ensembl ENCODE 5.9 +7.9 7858 1 CTCF TFAP4 ARID4B RAD21 YY1 ZNF316 SMC3 ZNF143 RUNX3 IKZF2 ARG2 ENSG00000201529 RDH11 PIGH RDH12 RN7SL369P VTI1B GC14M067658
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VTI1B on UCSC Golden Path with GeneCards custom track

Promoters for VTI1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000069906 385 1801 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF766 ZNF207

Genomic Location for VTI1B Gene

Chromosome:
14
Start:
67,647,075 bp from pter
End:
67,674,885 bp from pter
Size:
27,811 bases
Orientation:
Minus strand

Genomic View for VTI1B Gene

Genes around VTI1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VTI1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VTI1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VTI1B Gene

Proteins for VTI1B Gene

  • Protein details for VTI1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UEU0-VTI1B_HUMAN
    Recommended name:
    Vesicle transport through interaction with t-SNAREs homolog 1B
    Protein Accession:
    Q9UEU0
    Secondary Accessions:
    • O43547
    • Q96J28

    Protein attributes for VTI1B Gene

    Size:
    232 amino acids
    Molecular mass:
    26688 Da
    Quaternary structure:
    • Forms a SNARE complex with STX7, STX8 and VAMP8 which functions in the homotypic fusion of late endosomes. Component of the SNARE complex composed of STX7, STX8, VAMP7 and VIT1B that is required for heterotypic fusion of late endosomes with lysosomes (By similarity). May interact with STX17 (PubMed:23217709). Interacts with CLINT1 (PubMed:18033301).

    Three dimensional structures from OCA and Proteopedia for VTI1B Gene

    Alternative splice isoforms for VTI1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VTI1B Gene

Post-translational modifications for VTI1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VTI1B Gene

No data available for DME Specific Peptides for VTI1B Gene

Domains & Families for VTI1B Gene

Gene Families for VTI1B Gene

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

Protein Domains for VTI1B Gene

Suggested Antigen Peptide Sequences for VTI1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UEU0

UniProtKB/Swiss-Prot:

VTI1B_HUMAN :
  • Belongs to the VTI1 family.
Family:
  • Belongs to the VTI1 family.
genes like me logo Genes that share domains with VTI1B: view

Function for VTI1B Gene

Molecular function for VTI1B Gene

UniProtKB/Swiss-Prot Function:
V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. May be concerned with increased secretion of cytokines associated with cellular senescence.

Phenotypes From GWAS Catalog for VTI1B Gene

Gene Ontology (GO) - Molecular Function for VTI1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IDA 24550300
GO:0005484 SNAP receptor activity IBA --
GO:0005515 protein binding IPI 16189514
GO:0019869 chloride channel inhibitor activity IDA 18570918
genes like me logo Genes that share ontologies with VTI1B: view
genes like me logo Genes that share phenotypes with VTI1B: view

Animal Models for VTI1B Gene

MGI Knock Outs for VTI1B:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for VTI1B
  • Applied Biological Materials Clones for VTI1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VTI1B Gene

Localization for VTI1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for VTI1B Gene

Early endosome membrane; Single-pass type IV membrane protein. Late endosome membrane; Single-pass type IV membrane protein. Lysosome membrane. Cytoplasmic granule. Recycling endosome membrane; Single-pass type IV membrane protein.

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 VTI1B gene
Compartment Confidence
cytosol 5
lysosome 5
golgi apparatus 5
endosome 5
extracellular 4
endoplasmic reticulum 4
plasma membrane 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VTI1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IDA,IEA 18033301
GO:0005768 endosome IEA --
GO:0005789 endoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with VTI1B: view

Pathways & Interactions for VTI1B Gene

genes like me logo Genes that share pathways with VTI1B: view

Gene Ontology (GO) - Biological Process for VTI1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006623 protein targeting to vacuole IBA --
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IBA --
genes like me logo Genes that share ontologies with VTI1B: view

No data available for SIGNOR curated interactions for VTI1B Gene

Drugs & Compounds for VTI1B Gene

(5) Drugs for VTI1B Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for VTI1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with VTI1B: view

Transcripts for VTI1B Gene

Unigene Clusters for VTI1B Gene

Vesicle transport through interaction with t-SNAREs 1B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for VTI1B
  • Applied Biological Materials Clones for VTI1B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for VTI1B Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6
SP1: -
SP2: - -
SP3:

Relevant External Links for VTI1B Gene

GeneLoc Exon Structure for
VTI1B
ECgene alternative splicing isoforms for
VTI1B

Expression for VTI1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VTI1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VTI1B Gene

This gene is overexpressed in Synovial fluid (20.1) and Peripheral blood mononuclear cells (16.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VTI1B Gene



Protein tissue co-expression partners for VTI1B Gene

NURSA nuclear receptor signaling pathways regulating expression of VTI1B Gene:

VTI1B

SOURCE GeneReport for Unigene cluster for VTI1B Gene:

Hs.741177

mRNA Expression by UniProt/SwissProt for VTI1B Gene:

Q9UEU0-VTI1B_HUMAN
Tissue specificity: Expressed in all tissues examined.

Evidence on tissue expression from TISSUES for VTI1B Gene

  • Nervous system(4.8)
  • Kidney(4.4)
  • Liver(4.4)
genes like me logo Genes that share expression patterns with VTI1B: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for VTI1B Gene

Orthologs for VTI1B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for VTI1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VTI1B 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia VTI1B 33 34
  • 92.1 (n)
dog
(Canis familiaris)
Mammalia VTI1B 33 34
  • 91.67 (n)
rat
(Rattus norvegicus)
Mammalia Vti1b 33
  • 90.38 (n)
mouse
(Mus musculus)
Mammalia Vti1b 33 16 34
  • 88.94 (n)
oppossum
(Monodelphis domestica)
Mammalia VTI1B 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves VTI1B 33 34
  • 72.59 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 71 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia vti1b 33
  • 63.44 (n)
Str.12013 33
zebrafish
(Danio rerio)
Actinopterygii vti1b 33 34
  • 65.3 (n)
zgc63525 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VTI1 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10438 34
  • 32 (a)
OneToOne
Species where no ortholog for VTI1B 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for VTI1B Gene

ENSEMBL:
Gene Tree for VTI1B (if available)
TreeFam:
Gene Tree for VTI1B (if available)

Paralogs for VTI1B Gene

Paralogs for VTI1B Gene

(1) SIMAP similar genes for VTI1B Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for VTI1B Gene

genes like me logo Genes that share paralogs with VTI1B: view

Variants for VTI1B Gene

Sequence variations from dbSNP and Humsavar for VTI1B Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000063042 -- 67,674,522(+) ACCGA(A/G)ATTCG intron-variant, utr-variant-5-prime
rs1000217868 -- 67,668,459(+) ACTTT(A/G)GAGAA intron-variant
rs1000225518 -- 67,658,551(+) GAGAT(C/T)GCGCC intron-variant
rs1000562152 -- 67,662,995(+) TCGTA(C/T)ACTAC intron-variant
rs1000830996 -- 67,657,589(+) GCACG(C/T)GCGCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VTI1B Gene

Variant ID Type Subtype PubMed ID
esv2678403 CNV deletion 23128226
esv3551696 CNV deletion 23714750
esv3634806 CNV loss 21293372
nsv521832 CNV loss 19592680

Variation tolerance for VTI1B Gene

Residual Variation Intolerance Score: 78.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VTI1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VTI1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VTI1B Gene

Disorders for VTI1B Gene

MalaCards: The human disease database

(1) MalaCards diseases for VTI1B Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypomyelinating leukodystrophy
  • hld
- elite association - COSMIC cancer census association via MalaCards
Search VTI1B in MalaCards View complete list of genes associated with diseases

Relevant External Links for VTI1B

Genetic Association Database (GAD)
VTI1B
Human Genome Epidemiology (HuGE) Navigator
VTI1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VTI1B
genes like me logo Genes that share disorders with VTI1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VTI1B Gene

Publications for VTI1B Gene

  1. A human homolog can functionally replace the yeast vesicle-associated SNARE Vti1p in two vesicle transport pathways. (PMID: 9446565) Fischer von Mollard G … Stevens TH (The Journal of biological chemistry 1998) 2 3 4 22 60
  2. A SNARE-adaptor interaction is a new mode of cargo recognition in clathrin-coated vesicles. (PMID: 18033301) Miller SE … Owen DJ (Nature 2007) 3 4 22 60
  3. A hVti1 homologue: its expression depends on population doubling levels in both normal and SV40-transformed human fibroblasts. (PMID: 9636656) Li HC … Ide T (Biochemical and biophysical research communications 1998) 2 3 4 60
  4. The hairpin-type tail-anchored SNARE syntaxin 17 targets to autophagosomes for fusion with endosomes/lysosomes. (PMID: 23217709) Itakura E … Mizushima N (Cell 2012) 3 4 60
  5. Combinational soluble N-ethylmaleimide-sensitive factor attachment protein receptor proteins VAMP8 and Vti1b mediate fusion of antimicrobial and canonical autophagosomes with lysosomes. (PMID: 20089838) Furuta N … Amano A (Molecular biology of the cell 2010) 3 22 60

Products for VTI1B Gene

  • Addgene plasmids for VTI1B

Sources for VTI1B Gene

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