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Details on Person UniProt:Q96J84-1 KIRREL1
| Class:Id | ReferenceIsoform:149368 |
|---|---|
| _chainChangeLog | signal peptide:1-16 added on Fri February 6 2015;chain:17-757 added on Fri February 6 2015 |
| _displayName | UniProt:Q96J84-1 KIRREL1 |
| _timestamp | 2025-08-15 22:15:34 |
| chain | signal peptide:1-16 chain:17-757 |
| checksum | B937421970447FC2 |
| comment | FUNCTION Required for proper function of the glomerular filtration barrier. It is involved in the maintenance of a stable podocyte architecture with interdigitating foot processes connected by specialized cell-cell junctions, known as the slit diaphragm (PubMed:31472902). It is a signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity).SUBUNIT Interacts with TJP1/ZO-1 and with NPHS2/podocin (via the C-terminus). Interacts with NPHS1/nephrin (via the Ig-like domains); this interaction is dependent on KIRREL1 glycosylation. Homodimer (via the Ig-like domains). Interacts when tyrosine-phosphorylated with GRB2 (By similarity).INTERACTION Predominantly located at podocyte slit diaphragm.ALTERNATIVE PRODUCTS Abundantly expressed in kidney. Specifically expressed in podocytes of kidney glomeruli.PTM Phosphorylation probably regulates the interaction with NSH2. Phosphorylated at Tyr-605 and Tyr-606 by FYN, leading to GRB2 binding (By similarity).PTM N-glycosylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the immunoglobulin superfamily. |
| created | [InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10 |
| description | recommendedName: Kin of IRRE-like protein 1 alternativeName: Kin of irregular chiasm-like protein 1 alternativeName: Nephrin-like protein 1 |
| geneName | KIRREL1 KIRREL NEPH1 |
| identifier | Q96J84 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Cell membrane Disease variant Disulfide bond Glycoprotein Immunoglobulin domain Membrane Phosphoprotein Proteomics identification Reference proteome Repeat Signal Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | KIRREL1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8998951] ENSEMBL:ENSG00000183853 KIRREL1 [Homo sapiens] |
| secondaryIdentifier | KIRR1_HUMAN Q5W0F8 Q5XKC6 Q7Z696 Q7Z7N8 Q8TB15 Q9H9N1 Q9NVA5 |
| sequenceLength | 757 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q96J84-1 |
| (referenceEntity) | [EntityWithAccessionedSequence:197826] KIRREL-1 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:374553] p-Y605,Y606-KIRREL [plasma membrane] [Homo sapiens] |
| (referenceSequence) | [ModifiedResidue:374537] O4'-phospho-L-tyrosine at 605 [ModifiedResidue:374539] O4'-phospho-L-tyrosine at 606 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q96J84-1 KIRREL1 (149368)
