| Gene Symbol |
KIAA0196
|
| Entrez Gene |
9897
|
| Alt Symbol |
RTSC, SPG8
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
KIAA0196
|
| Other Description |
WASH complex subunit strumpellin|strumpellin
|
| Swissprots |
Q8TBQ2 A8K4R7 Q12768 Q3KQX5
|
| Accessions |
EAW92080 EAW92081 EAW92082 Q12768 AI266595 AK223628 BAD97348 AK291032 BAF83721 AK296970 BAG59514 BC026951 AAH26951 BC106015 AAI06016 D83780 BAA12109 DA185885 XM_005251120 XP_005251177 XM_011517409 XP_011515711 XM_011517410 XP_011515712 NM_014846 NP_055661
|
| Function |
Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). May be involved in axonal outgrowth. Involved in cellular localization of ADRB2 (PubMed:23085491). Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (PubMed:23676666). {ECO:0000269|PubMed:19922875, ECO:0000269|PubMed:20833645, ECO:0000269|PubMed:23085491, ECO:0000269|PubMed:23676666}.
|
| Subcellular Location |
Cytoplasm, cytosol {ECO:0000269|PubMed:20833645}. Endoplasmic reticulum {ECO:0000269|PubMed:20833645}. Early endosome {ECO:0000269|PubMed:23085491, ECO:0000269|PubMed:23676666}. Note=Colocalizes with SYP/synaptophysin in the external molecular layer of the dentate gyrus and in motoneurons of the ventral horn of spinal cord. {ECO:0000269|PubMed:20833645}.
|
| Tissue Specificity |
Expressed ubiquitously. {ECO:0000269|PubMed:20833645}.
|