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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 143187

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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%, as determined by reducing SDS-PAGE.
HY-P76701 VTI1A Protein, Human (HEK293, Fc) Q96AJ9-2 (M1-R187) ≥ 95%, as determined by reducing SDS-PAGE.

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

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