| Gene Symbol |
KIRREL
|
| Entrez Gene |
55243
|
| Alt Symbol |
NEPH1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
kin of IRRE like (Drosophila)
|
| Other Description |
kin of IRRE-like protein 1|kin of irregular chiasm-like protein 1|nephrin related|nephrin-like protein 1
|
| Swissprots |
Q9H9N1 Q96J84 Q8TB15 Q5W0F8 Q5XKC6 Q7Z7N8 Q9NVA5 Q7Z696
|
| Accessions |
EAW52852 EAW52853 EAW52854 EAW52855 Q96J84 AA628934 AK001707 BAA91850 AK022708 BAB14192 AK090554 BAC03476 AK094163 AK096361 AK098412 AK297788 BAG60129 AY017369 AAK00529 AY302131 AAP59845 BC025268 AAH25268 BC051356 AAH51356 BC067097 AAH67097 BC082969 AAH82969 BC109192 AAI09193 BC109193 AAI09194 XM_005245305 XP_005245362 XM_011509716 XP_011508018 NM_001286349 NP_001273278 NM_018240 NP_060710
|
| Function |
Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity). {ECO:0000250}.
|
| Subcellular Location |
Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Predominantly located at podocyte slit diaphragm.
|
| Tissue Specificity |
Abundantly expressed in kidney. Specifically expressed in podocytes of kidney glomeruli. {ECO:0000269|PubMed:11416156}.
|
