FOXR1
entrez
283150
canonical
uniprot
Q6PIV2
canonical
ensembl
ENSG00000176302
resolver
ensp
ENSP00000314806
resolver
ensp
ENSP00000432358
resolver
genesymbol
FOXR1
resolver
genesymbol_syn
FOXN5
resolver
hgnc
HGNC:29980
resolver
uniprot
B0YJ15
resolver
uniprot
Q08AS8
resolver
uniprot
Q86UT9
resolver
uniprot
Q8IXX2
resolver
uniprot_entry
FOXR1_HUMAN
resolver
uniprot_sec
B0YJ15
resolver
uniprot_sec
Q08AS8
resolver
uniprot_sec
Q86UT9
resolver
uniprot_sec
Q8IXX2
resolver
amino_acid_sequence
MGNELFLAFTTSHLPLAEQKLARYKLRIVKPPKLPLEKKPNPDKDGPDYEPNLWMWVNPNIVYPPGKLEVSGRRKREDLTSTLPSSQPPQKEEDASCSEAAGVESLSQSSSKRSPPRKRFAFSPSTWELTEEEEAEDQEDSSSMALPSPHKRAPLQSRRLRQASSQAGRLWSRPPLNYFHLIALALRNSSPCGLNVQQIYSFTRKHFPFFRTAPEGWKNTVRHNLCFRDSFEKVPVSMQGGASTRPRSCLWKLTEEGHRRFAEEARALASTRLESIQQCMSQPDVMPFLFDL
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in FOXR1 may be the cause of a severe neurological disorder characterized by postnatal microcephaly, progressive brain atrophy and global developmental delay. {ECO:0000269|PubMed:34723967}.
uniprot
proteins
function
FUNCTION: Transcription factor which acts as both an activator and a repressor (PubMed:34723967). Activates transcription of a number of genes including the heat shock chaperones HSPA1A and HSPA6 and the antioxidant NADPH-dependent reductase DHRS2 which are involved in protection against oxidative stress (PubMed:34723967). Required for normal brain development (By similarity). {ECO:0000250|UniProtKB:Q3UTB7, ECO:0000269|PubMed:34723967}.
uniprot
proteins
mass_dalton
33310
uniprot
proteins
mutagenesis
MUTAGEN 280..292; /note="Missing: Reduced protein expression and formation of nuclear puncta in some cells."; /evidence="ECO:0000269|PubMed:34723967
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
25609838
uniprot
proteins
pubmed
34723967
uniprot
proteins
sequence_length
292
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:34723967}. Cytoplasm {ECO:0000269|PubMed:25609838, ECO:0000269|PubMed:34723967}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:25609838}. Note=Localizes to the nucleus and cytoplasm with higher levels in the nucleus where it is expressed in a diffuse manner (PubMed:34723967). Located in the cytoplasm of spermatocytes and strongly accumulates at the perinuclear region in elongated spermatids (PubMed:25609838). {ECO:0000269|PubMed:25609838, ECO:0000269|PubMed:34723967}.
uniprot
proteins