FRMD7
entrez
90167
canonical
uniprot
Q6ZUT3
canonical
ensembl
ENSG00000165694
resolver
ensp
ENSP00000298542
resolver
ensp
ENSP00000359916
resolver
ensp
ENSP00000417996
resolver
genesymbol
FRMD7
resolver
hgnc
HGNC:8079
resolver
uniprot
C0LLJ3
resolver
uniprot
Q5JX99
resolver
uniprot_entry
FRMD7_HUMAN
resolver
uniprot_sec
C0LLJ3
resolver
uniprot_sec
Q5JX99
resolver
amino_acid_sequence
MLHLKVQFLDDSQKIFVVDQKSSGKALFNLSCSHLNLAEKEYFGLEFCSHSGNNVWLELLKPITKQVKNPKEIVFKFMVKFFPVDPGHLREELTRYLFTLQIKKDLALGRLPCSDNCTALMVSHILQSELGDFHEETDRKHLAQTRYLPNQDCLEGKIMHFHQKHIGRSPAESDILLLDIARKLDMYGIRPHPASDGEGMQIHLAVAHMGVLVLRGNTKINTFNWAKIRKLSFKRKHFLIKLHANILVLCKDTLEFTMASRDACKAFWKTCVEYHAFFRLSEEPKSKPKTLLCSKGSSFRYSGRTQRQLLEYGRKGRLKSLPFERKHYPSQYHERQCRSSPDLLSDVSKQVEDLRLAYGGGYYQNVNGVHASEPVLESRRRNSALEVTFATELEHSKPEADPTLLHQSQSSSSFPFIYMDPVFNTEPNPNPDPRDIFSERSSLSSFQTSCKFSGNHMSIYSGLTSKVRPAKQLTYTDVPYIPCTGQQVGIMPPQVFFYVDKPPQVPRWSPIRAEERTSPHSYVEPTAMKPAERSPRNIRMKSFQQDLQVLQEAIARTSGRSNINVGLEEEDPNLEDAFVCNIQEQTPKRSQSQSDMKTIRFPFGSEFRPLGPCPALSHKADLFTDMFAEQELPAVLMDQSTAERYVASESSDSESEILKPDYYALYGKEIRSPMARIRLSSGSLQLDEEDEDAYFNTPTAEDRTSLKPCNYFLA
uniprot
proteins
disease_involvement
DISEASE: Nystagmus 1, congenital, X-linked (NYS1) [MIM:310700]: A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. {ECO:0000269|PubMed:17013395, ECO:0000269|PubMed:17397053, ECO:0000269|PubMed:17768376, ECO:0000269|PubMed:17893669, ECO:0000269|PubMed:17962394, ECO:0000269|PubMed:18087240, ECO:0000269|PubMed:18246032, ECO:0000269|PubMed:18431453, ECO:0000269|PubMed:21303855, ECO:0000269|PubMed:21365021, ECO:0000269|PubMed:22490987, ECO:0000269|PubMed:23946638}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability. {ECO:0000250|UniProtKB:A2AD83, ECO:0000269|PubMed:17013395, ECO:0000269|PubMed:23946638}.
uniprot
proteins
mass_dalton
81614
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17013395
uniprot
proteins
pubmed
17397053
uniprot
proteins
pubmed
17768376
uniprot
proteins
pubmed
17893669
uniprot
proteins
pubmed
17962394
uniprot
proteins
pubmed
18087240
uniprot
proteins
pubmed
18246032
uniprot
proteins
pubmed
18431453
uniprot
proteins
pubmed
19892780
uniprot
proteins
pubmed
21303855
uniprot
proteins
pubmed
21365021
uniprot
proteins
pubmed
22128244
uniprot
proteins
pubmed
22490987
uniprot
proteins
pubmed
23946638
uniprot
proteins
sequence_length
714
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, neuron projection {ECO:0000250|UniProtKB:A2AD83}. Cell projection, growth cone {ECO:0000250|UniProtKB:A2AD83}. Note=In undifferentiated neurons, located in the actin-rich regions of the cell body. In differentiated neurons, located in the actin-rich regions of the cell body and primary neurite processes but is almost absent from secondary extensions arising from the primary neurite. Also found at the actin-rich distal end of growth cones (By similarity). {ECO:0000250|UniProtKB:A2AD83}.
uniprot
proteins