FRRS1L
entrez
23732
canonical
uniprot
Q9P0K9
canonical
ensembl
ENSG00000260230
resolver
ensp
ENSP00000477141
resolver
enst
ENST00000561981
resolver
genesymbol
FRRS1L
resolver
genesymbol_syn
C9orf4
resolver
hgnc
HGNC:1362
resolver
uniprot
Q5T4G4
resolver
uniprot_entry
FRS1L_HUMAN
resolver
uniprot_sec
Q5T4G4
resolver
amino_acid_sequence
MARPPRQHPGVWASLLLLLLTGPAACAASPADDGAGPGGRGPRGRARGDTGADEAVPRHDSSYGTFAGEFYDLRYLSEEGYPFPTAPPVDPFAKIKVDDCGKTKGCFRYGKPGCNAETCDYFLSYRMIGADVEFELSADTDGWVAVGFSSDKKMGGDDVMACVHDDNGRVRIQHFYNVGQWAKEIQRNPARDEEGVFENNRVTCRFKRPVNVPRDETIVDLHLSWYYLFAWGPAIQGSITRHDIDSPPASERVVSIYKYEDIFMPSAAYQTFSSPFCLLLIVALTFYLLMGTP
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 37 (DEE37) [MIM:616981]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE37 is an autosomal recessive, severe form manifesting in the first years of life. Affected individuals show hyperkinetic movement disorder with choreoathetosis, spasticity, rigidity, intellectual disability, absent speech, and impaired volitional movements. {ECO:0000269|PubMed:27236917, ECO:0000269|PubMed:27239025}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Important modulator of glutamate signaling pathway. {ECO:0000269|PubMed:27236917}.
uniprot
proteins
mass_dalton
32389
uniprot
proteins
pubmed
10603000
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
27236917
uniprot
proteins
pubmed
27239025
uniprot
proteins
sequence_length
293
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:B1AXV0}. Synapse {ECO:0000250|UniProtKB:B1AXV0}.
uniprot
proteins
transmembrane_region
TRANSMEM 271..291; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins