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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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VTI1A
vesicle transport through interaction with t-SNAREs 1A
Chromosome 10 · 10q25.2
NCBI Gene: 143187Ensembl: ENSG00000151532.15HGNC: HGNC:17792UniProt: A0A994J5N6
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusvoluntary musculoskeletal movementSNAP receptor activityendocytic recyclingcolorectal cancersmoking initiationlung carcinomaatrial fibrillation
✦AI Summary

VTI1A encodes a vesicle-associated membrane protein (v-SNARE) that plays crucial roles in intracellular membrane trafficking and neuronal function. The protein mediates retrograde transport from endosomes to the trans-Golgi network (TGN) by forming SNARE complexes with syntaxin 6, syntaxin 16, and VAMP-4 1. VTI1A is predominantly localized to the Golgi apparatus and TGN, where it facilitates membrane fusion events critical for vesicle trafficking 1. In neurons, VTI1A has specialized functions including synaptic vesicle recycling, dense core vesicle secretion, and support of cortical development 2. Loss of VTI1A/VTI1B function in mice causes severe cortical malformations, including depletion of neural progenitor pools and disorganization of cortical layer 5, leading to defective corticospinal projections 3. The protein also maintains proper Golgi organization, as VTI1A/VTI1B-deficient neurons show altered distribution of Golgi markers and disrupted cargo sorting 4. Clinically, VTI1A genetic variants are associated with increased cancer risk, particularly for colorectal, breast, lung cancers and glioma 56. Additionally, VTI1A DNA methylation levels correlate with physical activity levels, suggesting potential epigenetic regulation 7.

Sources cited
1
VTI1A forms SNARE complexes with syntaxin 6, syntaxin 16, and VAMP-4, and is localized to Golgi apparatus and TGN
PMID: 12067063
2
VTI1A has neuron-specific functions including synaptic vesicle recycling and dense core vesicle secretion
PMID: 32775753
3
Loss of VTI1A/VTI1B causes cortical malformations, neural progenitor depletion, and layer 5 disorganization
PMID: 33774122
4
VTI1A/VTI1B deficiency alters Golgi organization and cargo sorting
PMID: 36460703
5
VTI1A variants are associated with increased cancer risk across multiple cancer types
PMID: 28949031
6
VTI1A locus shows genome-wide significant association with colorectal cancer risk
PMID: 25105248
7
VTI1A DNA methylation levels correlate with physical activity
PMID: 35700439
Disease Associationsⓘ20
colorectal cancerOpen Targets
0.44Moderate
smoking initiationOpen Targets
0.42Moderate
lung carcinomaOpen Targets
0.40Weak
atrial fibrillationOpen Targets
0.33Weak
hypertrophic cardiomyopathyOpen Targets
0.32Weak
gliomaOpen Targets
0.29Weak
type 2 diabetes mellitusOpen Targets
0.28Weak
polyp of colonOpen Targets
0.28Weak
polyp of large intestineOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
attention deficit hyperactivity disorderOpen Targets
0.27Weak
colorectal adenomaOpen Targets
0.27Weak
osteoporosisOpen Targets
0.27Weak
lung cancerOpen Targets
0.27Weak
central nervous system cancerOpen Targets
0.26Weak
substance abuseOpen Targets
0.26Weak
non-small cell lung carcinomaOpen Targets
0.26Weak
diabetic ketoacidosisOpen Targets
0.26Weak
ovarian neoplasmOpen Targets
0.25Weak
vertebral column disorderOpen Targets
0.23Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GOLGA1Protein interaction100%GOLGA4Protein interaction100%RAB6AProtein interaction100%GCC2Protein interaction100%VPS54Protein interaction100%VPS53Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
34%
Lung
33%
Heart
31%
Liver
19%
Ovary
18%
Gene Interaction Network
Click a node to explore
VTI1AGOLGA1GOLGA4RAB6AGCC2VPS54VPS53
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96AJ9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.43–0.86]
RankingsWhere VTI1A stands among ~20K protein-coding genes
  • #7,331of 20,598
    Most Researched64
  • #7,582of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedVTI1A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cumulative evidence for relationships between multiple variants in the VTI1A and TCF7L2 genes and cancer incidence.
PMID: 28949031
Int J Cancer · 2018
1.00
2
Epigenome-Wide Association Study Identified VTI1A DNA Methylation Associated With Accelerometer-Assessed Physical Activity.
PMID: 35700439
Med Sci Sports Exerc · 2022
0.90
3
Vti Proteins: Beyond Endolysosomal Trafficking.
PMID: 30471354
Neuroscience · 2019
0.80
4
Vti1a/b support distinct aspects of TGN and cis-/medial Golgi organization.
PMID: 36460703
Sci Rep · 2022
0.70
5
Vesicle transport through interaction with t-SNAREs 1a (Vti1a)'s roles in neurons.
PMID: 32775753
Heliyon · 2020
0.60