| Gene Symbol |
VPS39
|
| Entrez Gene |
23339
|
| Alt Symbol |
TLP, VAM6, hVam6p
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
vacuolar protein sorting 39 homolog (S. cerevisiae)
|
| Other Description |
TRAP1-like protein|vam6/Vps39-like protein
|
| Swissprots |
Q96B93 Q96RM0 Q7Z3V3 Q71SQ6 O94869 Q96JC1
|
| Accessions |
AAK58862 EAW92535 EAW92536 EAW92537 EAW92538 EAW92539 Q96JC1 AB018313 BAA34490 AF280814 AAK72222 AF281052 AAQ05978 AK025334 AK074193 AK124255 AK128403 BAG54672 AL117456 AM392538 CAL37416 AM393769 CAL38644 BC015817 AAH15817 BC068559 AAH68559 BX537404 CAD97646 DB461120 XM_011521403 XP_011519705 XM_011521404 XP_011519706 XM_011521405 XP_011519707 XM_011521406 XP_011519708 NM_001301138 NP_001288067 NM_015289 NP_056104
|
| Function |
May play a role in clustering and fusion of late endosomes and lysosomes. Regulator of TGF-beta/activin signaling, inhibiting SMAD3- and activating SMAD2-dependent transcription. Acts by interfering with SMAD3/SMAD4 complex formation, this would lead to inhibition of SMAD3-dependent transcription and relieve SMAD3 inhibition of SMAD2-dependent promoters, thus increasing SMAD2-dependent transcription. Does not affect TGF-beta-induced SMAD2 or SMAD3 phosphorylation, nor SMAD2/SMAD4 complex formation. {ECO:0000269|PubMed:11448994, ECO:0000269|PubMed:12941698}.
|
| Subcellular Location |
Cytoplasm. Lysosome membrane; Peripheral membrane protein. Late endosome membrane; Peripheral membrane protein. Note=Colocalizes with TGFBR1 and TGFBR2 in cytoplasmic vesicular structures and most prominently in cortical vesicles.
|
| Tissue Specificity |
Widely expressed, with highest levels in heart, skeletal muscle, kidney, pancreas, brain, placenta and spleen. {ECO:0000269|PubMed:11448994, ECO:0000269|PubMed:12941698}.
|