KIRREL1
entrez
55243
canonical
uniprot
Q96J84
canonical
ensembl
ENSG00000183853
resolver
ensp
ENSP00000352138
resolver
ensp
ENSP00000353202
resolver
ensp
ENSP00000357155
resolver
ensp
ENSP00000630879
resolver
enst
ENST00000368173
resolver
genesymbol
KIRREL1
resolver
genesymbol_syn
KIRREL
resolver
genesymbol_syn
NEPH1
resolver
hgnc
HGNC:15734
resolver
uniprot
A0A0A0MRK0
resolver
uniprot
B4DN67
resolver
uniprot
Q5W0F8
resolver
uniprot
Q5XKC6
resolver
uniprot
Q7Z696
resolver
uniprot
Q7Z7N8
resolver
uniprot
Q8TB15
resolver
uniprot
Q9H9N1
resolver
uniprot
Q9NVA5
resolver
uniprot_entry
A0A0A0MRK0_HUMAN
resolver
uniprot_entry
B4DN67_HUMAN
resolver
uniprot_entry
KIRR1_HUMAN
resolver
uniprot_sec
Q5W0F8
resolver
uniprot_sec
Q5XKC6
resolver
uniprot_sec
Q7Z696
resolver
uniprot_sec
Q7Z7N8
resolver
uniprot_sec
Q8TB15
resolver
uniprot_sec
Q9H9N1
resolver
uniprot_sec
Q9NVA5
resolver
amino_acid_sequence
MLSLLVWILTLSDTFSQGTQTRFSQEPADQTVVAGQRAVLPCVLLNYSGIVQWTKDGLALGMGQGLKAWPRYRVVGSADAGQYNLEITDAELSDDASYECQATEAALRSRRAKLTVLIPPEDTRIDGGPVILLQAGTPHNLTCRAFNAKPAATIIWFRDGTQQEGAVASTELLKDGKRETTVSQLLINPTDLDIGRVFTCRSMNEAIPSGKETSIELDVHHPPTVTLSIEPQTVQEGERVVFTCQATANPEILGYRWAKGGFLIEDAHESRYETNVDYSFFTEPVSCEVHNKVGSTNVSTLVNVHFAPRIVVDPKPTTTDIGSDVTLTCVWVGNPPLTLTWTKKDSNMVLSNSNQLLLKSVTQADAGTYTCRAIVPRIGVAEREVPLYVNGPPIISSEAVQYAVRGDGGKVECFIGSTPPPDRIAWAWKENFLEVGTLERYTVERTNSGSGVLSTLTINNVMEADFQTHYNCTAWNSFGPGTAIIQLEEREVLPVGIIAGATIGASILLIFFFIALVFFLYRRRKGSRKDVTLRKLDIKVETVNREPLTMHSDREDDTASVSTATRVMKAIYSSFKDDVDLKQDLRCDTIDTREEYEMKDPTNGYYNVRAHEDRPSSRAVLYADYRAPGPARFDGRPSSRLSHSSGYAQLNTYSRGPASDYGPEPTPPGPAAPAGTDTTSQLSYENYEKFNSHPFPGAAGYPTYRLGYPQAPPSGLERTPYEAYDPIGKYATATRFSYTSQHSDYGQRFQQRMQTHV
uniprot
proteins
disease_involvement
DISEASE: Nephrotic syndrome 23 (NPHS23) [MIM:619201]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS23 is an autosomal recessive form characterized by onset of proteinuria in the first or second decade of life, and variable outcome. Some patients have normal renal function after many years, whereas others may progress to chronic kidney disease. {ECO:0000269|PubMed:31472902}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250, ECO:0000269|PubMed:31472902}.
uniprot
proteins
mass_dalton
83536
uniprot
proteins
post_translational_modification
PTM: Phosphorylation probably regulates the interaction with NSH2. Phosphorylated at Tyr-605 and Tyr-606 by FYN, leading to GRB2 binding (By similarity). {ECO:0000250}.; PTM: N-glycosylated. {ECO:0000250}.
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
pubmed
11416156
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15144186
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
31472902
uniprot
proteins
sequence_length
757
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:31472902}; Single-pass type I membrane protein {ECO:0000305}. Note=Predominantly located at podocyte slit diaphragm.
uniprot
proteins
transmembrane_region
TRANSMEM 500..520; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins