VTI1A - vesicle transport through interaction with t-SNAREs 1A Gene
Also Known as MMDS3; MVti1; VTI1RP2; Vti1-rp2
Species: Homo sapiens
About VTI1A
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 |
VTI1A Protein Structure
V-SNARE: Vesicle transport v-SNARE protein N-terminus (12 - 90)
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 |
|
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 |
|
|
| Pseudohypoparathyroidism, Type Ib |
|
|
| Frontotemporal Dementia |
|
|
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 |