| Gene Symbol |
SNTA1
|
| Entrez Gene |
6640
|
| Alt Symbol |
LQT12, SNT1, TACIP1, dJ1187J4.5
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
syntrophin, alpha 1
|
| Other Description |
59 kDa dystrophin-associated protein A1 acidic component 1|acidic alpha 1 syntrophin|alpha-1-syntrophin|dystrophin-associated protein A1, 59kDa, acidic component|pro-TGF-alpha cytoplasmic domain-interacting protein 1|syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)|syntrophin-1
|
| Swissprots |
B4DX40 A8K7H9 Q16438 E1P5N1 Q13424
|
| Accessions |
EAW76314 EAW76315 EAW76316 EAW76317 Q13424 AK095942 BAG53172 AK291994 BAF84683 AK301800 BAG63252 AU118614 BC026215 AAH26215 BC113813 AAI13814 DQ893566 ABM84492 DQ896816 ABM87815 S81737 AAB36398 U40571 AAC50448 XM_005260517 XP_005260574 XM_011529007 XP_011527309 XM_011529008 XP_011527310 XR_936612 NM_003098 NP_003089
|
| Function |
Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- bisphosphate (By similarity). {ECO:0000250}.
|
| Subcellular Location |
Cell membrane, sarcolemma {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions. {ECO:0000250}.
|
| Tissue Specificity |
High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.
|
