RFX7
entrez
64864
canonical
uniprot
Q2KHR2
canonical
ensembl
ENSG00000181827
resolver
ensp
ENSP00000453281
resolver
ensp
ENSP00000501249
resolver
ensp
ENSP00000501278
resolver
ensp
ENSP00000587846
resolver
enst
ENST00000559447
resolver
enst
ENST00000673948
resolver
genesymbol
RFX7
resolver
genesymbol_syn
RFXDC2
resolver
hgnc
HGNC:25777
resolver
uniprot
A0A8C8UYX0
resolver
uniprot
A0AAA9Y9D9
resolver
uniprot
Q6ZRR1
resolver
uniprot
Q6ZTY6
resolver
uniprot
Q8N3J0
resolver
uniprot
Q9H7A9
resolver
uniprot
Q9H956
resolver
uniprot_entry
A0A8C8UYX0_HUMAN
resolver
uniprot_entry
A0AAA9Y9D9_HUMAN
resolver
uniprot_entry
RFX7_HUMAN
resolver
uniprot_sec
Q6ZRR1
resolver
uniprot_sec
Q6ZTY6
resolver
uniprot_sec
Q8N3J0
resolver
uniprot_sec
Q9H7A9
resolver
uniprot_sec
Q9H956
resolver
amino_acid_sequence
MAEEQQQPPPQQPDAHQQLPPSAPNSGVALPALVPGLPGTEASALQHKIKNSICKTVQSKVDCILQEVEKFTDLEKLYLYLQLPSGLSNGEKSDQNAMSSSRAQQMHAFSWIRNTLEEHPETSLPKQEVYDEYKSYCDNLGYHPLSAADFGKIMKNVFPNMKARRLGTRGKSKYCYSGLRKKAFVHMPTLPNLDFHKTGDGLEGAEPSGQLQNIDEEVISSACRLVCEWAQKVLSQPFDTVLELARFLVKSHYIGTKSMAALTVMAAAPAGMKGITQPSAFIPTAESNSFQPQVKTLPSPIDAKQQLQRKIQKKQQEQKLQSPLPGESAAKKSESATSNGVTNLPNGNPSILSPQPIGIVVAAVPSPIPVQRTRQLVTSPSPMSSSDGKVLPLNVQVVTQHMQSVKQAPKTPQNVPASPGGDRSARHRYPQILPKPANTSALTIRSPTTVLFTSSPIKTAVVPASHMSSLNVVKMTTISLTPSNSNTPLKHSASVSSATGTTEESRSVPQIKNGSVVSLQSPGSRSSSAGGTSAVEVKVEPETSSDEHPVQCQENSDEAKAPQTPSALLGQKSNTDGALQKPSNEGVIEIKATKVCDQRTKCKSRCNEMLPGTSTGNNQSTITLSVASQNLTFTSSSSPPNGDSINKDPKLCTKSPRKRLSSTLQETQVPPVKKPIVEQLSAATIEGQKQGSVKKDQKVPHSGKTEGSTAGAQIPSKVSVNVSSHIGANQPLNSSALVISDSALEQQTTPSSSPDIKVKLEGSVFLLDSDSKSVGSFNPNGWQQITKDSEFISASCEQQQDISVMTIPEHSDINDLEKSVWELEGMPQDTYSQQLHSQIQESSLNQIQAHSSDQLPLQSELKEFEPSVSQTNESYFPFDDELTQDSIVEELVLMEQQMSMNNSHSYGNCLGMTLQSQSVTPGAPMSSHTSSTHFYHPIHSNGTPIHTPTPTPTPTPTPTPTPTPTSEMIAGSQSLSRESPCSRLAQTTPVDSALGSSRHTPIGTPHSNCSSSVPPSPVECRNPFAFTPISSSMAYHDASIVSSSPVKPMQRPMATHPDKTKLEWMNNGYSGVGNSSVSGHGILPSYQELVEDRFRKPHAFAVPGQSYQSQSRHHDTHFGRLTPVSPVQHQGATVNNTNKQEGFAVPAPLDNKGTNSSASSNFRCRSVSPAVHRQRNLSGSTLYPVSNIPRSNVTPFGSPVTPEVHVFTNVHTDACANNIAQRSQSVPLTVMMQTAFPNALQKQANSKKITNVLLSKLDSDNDDAVRGLGMNNLPSNYTARMNLTQILEPSTVFPSANPQNMIDSSTSVYEFQTPSYLTKSNSTGQINFSPGDNQAQSEIGEQQLDFNSTVKDLLSGDSLQTNQQLVGQGASDLTNTASDFSSDIRLSSELSGSINDLNTLDPNLLFDPGRQQGQDDEATLEELKNDPLFQQICSESMNSMTSSGFEWIESKDHPTVEMLG
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities (MRD71) [MIM:620330]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, speech delay, and impaired intellectual development. Most patients manifest neurobehavioral features including autism spectrum disorder and attention-deficit/hyperactivity disorder. Other frequent features include hypersensitivity to sensory stimuli and sleep problems. {ECO:0000269|PubMed:33658631, ECO:0000269|PubMed:36334883}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor (PubMed:29967452). Acts as a transcriptional activator by binding to promoter regions of target genes, such as PDCD4, PIK3IP1, MXD4, PNRC1, and RFX5 (PubMed:29967452, PubMed:34197623). Plays a role in natural killer (NK) cell maintenance and immunity (PubMed:29967452). May play a role in the process of ciliogenesis in the neural tube and neural tube closure (By similarity). {ECO:0000250|UniProtKB:A0A1L8H0H2, ECO:0000269|PubMed:29967452, ECO:0000269|PubMed:34197623}.
uniprot
proteins
mass_dalton
157351
uniprot
proteins
protein_family
RFX family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18673564
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25752541
uniprot
proteins
pubmed
29967452
uniprot
proteins
pubmed
33658631
uniprot
proteins
pubmed
34197623
uniprot
proteins
pubmed
36334883
uniprot
proteins
sequence_length
1460
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00858}.
uniprot
proteins