BVES - blood vessel epicardial substance Gene
Also Known as POP1; HBVES; CARICK; LGMD2X; POPDC1; LGMDR25
生物種: Homo sapiens
About BVES
This gene has 3 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 3.6), testis (RPKM 1.9) and 16 other tissues.
Summary
This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
BVES Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001199563.2 | NP_001186492.1 | blood vessel epicardial substance |
| NM_007073.4 | NP_009004.2 | blood vessel epicardial substance |
| NM_147147.4 | NP_671488.1 | blood vessel epicardial substance |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
26642364 | GOA |
| enables structural molecule activity |
IDA
IDA: Inferred from direct assay
|
16188940 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in epithelial cell-cell adhesion |
IDA
IDA: Inferred from direct assay
|
16188940 | GOA |
| involved in heart development |
IMP
IMP: Inferred from mutant phenotype
|
26642364 | GOA |
| involved in skeletal muscle tissue development |
IMP
IMP: Inferred from mutant phenotype
|
26642364 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in bicellular tight junction |
IDA
IDA: Inferred from direct assay
|
16188940 | GOA |
| located in lateral plasma membrane |
IDA
IDA: Inferred from direct assay
|
16188940 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
16188940 | GOA |
| located in sarcolemma |
IDA
IDA: Inferred from direct assay
|
26642364 | GOA |
BVES Protein Structure
Popeye: Popeye protein conserved region (123 - 275)
- 0
- 100
- 200
- 300
- 360 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
blood vessel epicardial substance |
|
Recombinant BVES Proteins
| 製品番号 | 製品名 | アクセッション番号 | 純度 |
|---|---|---|---|
| HY-P75597 | BVES Protein, Human (GST) | Q8NE79 (M1-N36) | ≥ 90%, as determined by reducing SDS-PAGE. |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Pseudo-Torch Syndrome 1 |
|
|
| Tetralogy Of Fallot |
|
|
| Muscular Dystrophy |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
|
|
| Myopathy, Congenital, Bailey-Bloch |
|
|
| Atrioventricular Block |
|
|
| Bethlem Myopathy 1 |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Bos taurus | BVES | VGNC | VGNC:26610 |
| Rattus norvegicus | BVES | RGD | RGD:1561100 |
| Macaca mulatta | BVES | VGNC | VGNC:70294 |
| Canis familiaris | BVES | VGNC | VGNC:38569 |
| Felis catus | BVES | VGNC | VGNC:60214 |
| Mus musculus | BVES | MGD | MGI:1346013 |
| Others | BVES | NCBI |