2. Gene
  3. VTI1A - vesicle transport through interaction with t-SNAREs 1A Gene

VTI1A - vesicle transport through interaction with t-SNAREs 1A Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MMDS3; MVti1; VTI1RP2; Vti1-rp2

Gene ID: 143187 | Gene type: protein coding

About VTI1A

Cytogenetic location: 10q25.2 Genomic coordinates (GRCh38): 10:112,446,988-112,855,368 (from NCBI)

This gene has 10 transcripts (splice variants), 199 orthologues, 2 paralogues and is associated with 62 phenotypes. Ubiquitous expression in brain (RPKM 1.6), bone marrow (RPKM 1.4) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

VTI1A Products(8)

mRNA Protein Name
NM_001318203.2 NP_001305132.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform a
NM_001318205.2 NP_001305134.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform c
NM_001365710.2 NP_001352639.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform d
NM_001365711.1 NP_001352640.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform e
NM_001365712.1 NP_001352641.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform f
NM_001365713.1 NP_001352642.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform f
NM_001365714.1 NP_001352643.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform g
NM_145206.4 NP_660207.2 vesicle transport through interaction with t-SNAREs homolog 1A isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables SNAP receptor activity IDA
IDA: Inferred from direct assay
15215310 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
24095276 GOA
Biological Process GO Annotation Evidence Reference Source
involved in autophagy IMP
IMP: Inferred from mutant phenotype
24095276 GOA
involved in endocytic recycling IMP
IMP: Inferred from mutant phenotype
23677696 GOA
involved in retrograde transport, endosome to Golgi IDA
IDA: Inferred from direct assay
15215310 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: Inferred from mutant phenotype
19224922 GOA
involved in voluntary musculoskeletal movement IMP
IMP: Inferred from mutant phenotype
22958904 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
19224922 GOA
located in autophagosome IDA
IDA: Inferred from direct assay
24095276 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VTI1A Protein Structure

V-SNARE

V-SNARE: Vesicle transport v-SNARE protein N-terminus (12 - 90)

V-SNARE_C

V-SNARE_C: Snare region anchored in the vesicle membrane C-terminus (123 - 187)

  • 0
  • 100
  • 200
  • 217 a.a.
Protein Preferred Names Protein Names

vesicle transport through interaction with t-SNAREs homolog 1A

SNARE Vti1a-beta protein

Recombinant VTI1A Proteins

Cat. No. Product Name Accession Purity
HY-P76700 VTI1A Protein, Human (HEK293, His) Q96AJ9-2 (M1-R187) ≥95%
HY-P76701 VTI1A Protein, Human (HEK293, Fc) Q96AJ9-2 (M1-R187) ≥95%

Related Diseases

Diseases Alias
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts

Mlc

Van Der Knaap Disease

Lvm

Leukoencephalopathy With Swelling And Cysts

Megalencephaly-Cystic Leukodystrophy

Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome

Infantile Leukoencephalopathy And Megalencephaly

Leukoencephalopathy With Swelling And A Discrepantly Mild Course

Vacuolating Leukoencephalopathy

Megalencephalic Leukodystrophy

Megalencephaly-Cystic Leukodystrophy Syndrome

Van Der Knaap Syndrome

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
Pseudohypoparathyroidism, Type Ib

Pseudohypoparathyroidism Type 1b

PHP1B

Pseudohypoparathyroidism Ib

Pseudohypoparathyroidism Type Ib

Php Ib

Pseudohypoparathyroidism 1b
Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15722 VTI1A Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris VTI1A VGNC VGNC:48316
Mus musculus VTI1A MGD MGI:1855699
Bos taurus VTI1A VGNC VGNC:55979
Rattus norvegicus VTI1A RGD RGD:621490
Others VTI1A NCBI