NR6A1
entrez
2649
canonical
uniprot
Q15406
canonical
ensembl
ENSG00000148200
resolver
ensp
ENSP00000341135
resolver
ensp
ENSP00000362686
resolver
ensp
ENSP00000413701
resolver
ensp
ENSP00000420267
resolver
genesymbol
NR6A1
resolver
genesymbol_syn
GCNF
resolver
hgnc
HGNC:7985
resolver
uniprot
F1D8S0
resolver
uniprot
F1DAM1
resolver
uniprot
O00551
resolver
uniprot
O00603
resolver
uniprot
Q5T6F4
resolver
uniprot
Q8NHQ0
resolver
uniprot
Q92898
resolver
uniprot
Q99802
resolver
uniprot_entry
F1D8S0_HUMAN
resolver
uniprot_entry
F1DAM1_HUMAN
resolver
uniprot_entry
NR6A1_HUMAN
resolver
uniprot_sec
O00551
resolver
uniprot_sec
O00603
resolver
uniprot_sec
Q5T6F4
resolver
uniprot_sec
Q8NHQ0
resolver
uniprot_sec
Q92898
resolver
uniprot_sec
Q99802
resolver
amino_acid_sequence
MERDEPPPSGGGGGGGSAGFLEPPAALPPPPRNGFCQDELAELDPGTISVSDDRAEQRTCLICGDRATGLHYGIISCEGCKGFFKRSICNKRVYRCSRDKNCVMSRKQRNRCQYCRLLKCLQMGMNRKAIREDGMPGGRNKSIGPVQISEEEIERIMSGQEFEEEANHWSNHGDSDHSSPGNRASESNQPSPGSTLSSSRSVELNGFMAFREQYMGMSVPPHYQYIPHLFSYSGHSPLLPQQARSLDPQSYSLIHQLLSAEDLEPLGTPMLIEDGYAVTQAELFALLCRLADELLFRQIAWIKKLPFFCELSIKDYTCLLSSTWQELILLSSLTVYSKQIFGELADVTAKYSPSDEELHRFSDEGMEVIERLIYLYHKFHQLKVSNEEYACMKAINFLNQDIRGLTSASQLEQLNKRYWYICQDFTEYKYTHQPNRFPDLMMCLPEIRYIAGKMVNVPLEQLPLLFKVVLHSCKTSVGKE
uniprot
proteins
disease_involvement
DISEASE: Oculovertebral syndrome (OVS) [MIM:621277]: An autosomal dominant syndrome characterized by missing vertebrae in the thoracic and/or lumbar spine and uveal coloboma, a congenital ocular malformation caused by failure of the ventral optic fissure to close during early eye morphogenesis and usually considered on a phenotypic continuum with microphthalmia and anophthalmia. Some patients have congenital kidney abnormalities. OVS shows incomplete penetrance and variable expressivity. {ECO:0000269|PubMed:40610405}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Orphan nuclear receptor that binds to a response element containing the sequence 5'-TCAAGGTCA-3' (PubMed:26769970). Acts as a regulator of embryonic stem cell pluripotency by mediating repression of POU5F1/OCT4: binds to the DR0 element within the POU5F1/OCT4 promoter and inhibits POU5F1/OCT4 expression during embryonic stem cell differentiation (PubMed:26769970). Involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity). {ECO:0000250|UniProtKB:Q64249, ECO:0000269|PubMed:26769970}.
uniprot
proteins
mass_dalton
54383
uniprot
proteins
protein_family
NR6 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
12080054
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
26769970
uniprot
proteins
pubmed
40610405
uniprot
proteins
pubmed
8982251
uniprot
proteins
pubmed
9134503
uniprot
proteins
pubmed
9177477
uniprot
proteins
pubmed
9493564
uniprot
proteins
pubmed
9537518
uniprot
proteins
sequence_length
480
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26769970, ECO:0000269|PubMed:40610405}.
uniprot
proteins