NOS1AP
entrez
9722
canonical
uniprot
O75052
canonical
ensembl
ENSG00000198929
resolver
ensp
ENSP00000355133
resolver
ensp
ENSP00000431586
resolver
ensp
ENSP00000434988
resolver
genesymbol
NOS1AP
resolver
genesymbol_syn
CAPON
resolver
genesymbol_syn
KIAA0464
resolver
hgnc
HGNC:16859
resolver
uniprot
B7ZLF5
resolver
uniprot
O43564
resolver
uniprot
Q3T551
resolver
uniprot
Q5VU95
resolver
uniprot_entry
CAPON_HUMAN
resolver
uniprot_sec
B7ZLF5
resolver
uniprot_sec
O43564
resolver
uniprot_sec
Q3T551
resolver
uniprot_sec
Q5VU95
resolver
amino_acid_sequence
MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIRYEFKAKNIKKKKVSIMVSVDGVKVILKKKKKLLLLQKKEWTWDESKMLVMQDPIYRIFYVSHDSQDLKIFSYIARDGASNIFRCNVFKSKKKSQAMRIVRTVGQAFEVCHKLSLQHTQQNADGQEDGESERNSNSSGDPGRQLTGAERASTATAEETDIDAVEVPLPGNDVLEFSRGVTDLDAVGKEGGSHTGSKVSHPQEPMLTASPRMLLPSSSSKPPGLGTETPLSTHHQMQLLQQLLQQQQQQTQVAVAQVHLLKDQLAAEAAARLEAQARVHQLLLQNKDMLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLHSPPLGAGLADFAHPAGSPLGRRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWSQEELPRLLNVLQRQELGDGLDDEIAV
uniprot
proteins
disease_involvement
DISEASE: Nephrotic syndrome 22 (NPHS22) [MIM:619155]: 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. NPHS22 is an autosomal recessive, steroid-resistant form characterized by onset of progressive kidney dysfunction in infancy. {ECO:0000269|PubMed:33523862}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity). In kidney podocytes, plays a role in podosomes and filopodia formation through CDC42 activation (PubMed:33523862). {ECO:0000250|UniProtKB:O54960, ECO:0000269|PubMed:33523862}.
uniprot
proteins
mass_dalton
56150
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16146415
uniprot
proteins
pubmed
16648850
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
33523862
uniprot
proteins
pubmed
9455484
uniprot
proteins
pubmed
9459447
uniprot
proteins
sequence_length
506
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, filopodium {ECO:0000250|UniProtKB:O54960}. Cell projection, podosome {ECO:0000250|UniProtKB:O54960}.
uniprot
proteins