PHF6
entrez
84295
canonical
uniprot
Q8IWS0
canonical
ensembl
ENSG00000156531
resolver
ensp
ENSP00000329097
resolver
ensp
ENSP00000359836
resolver
ensp
ENSP00000359839
resolver
genesymbol
PHF6
resolver
genesymbol_syn
CENP-31
resolver
genesymbol_syn
KIAA1823
resolver
hgnc
HGNC:18145
resolver
uniprot
A8K230
resolver
uniprot
B4E0G4
resolver
uniprot
D3DTG3
resolver
uniprot
E9PC97
resolver
uniprot
Q5JRC7
resolver
uniprot
Q5JRC8
resolver
uniprot
Q96JK3
resolver
uniprot
Q9BRU0
resolver
uniprot_entry
PHF6_HUMAN
resolver
uniprot_sec
A8K230
resolver
uniprot_sec
B4E0G4
resolver
uniprot_sec
D3DTG3
resolver
uniprot_sec
E9PC97
resolver
uniprot_sec
Q5JRC7
resolver
uniprot_sec
Q5JRC8
resolver
uniprot_sec
Q96JK3
resolver
uniprot_sec
Q9BRU0
resolver
amino_acid_sequence
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIKRGTKLMCSLCHCPGATIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEADLEESFNEHELEPSSPKSKKKSRKGRPRKTNFKGLSEDTRSTSSHGTDEMESSSYRDRSPHRSSPSDTRPKCGFCHVGEEENEARGKLHIFNAKKAAAHYKCMLFSSGTVQLTTTSRAEFGDFDIKTVLQEIKRGKRMKCTLCSQPGATIGCEIKACVKTYHYHCGVQDKAKYIENMSRGIYKLYCKNHSGNDERDEEDEERESKSRGKVEIDQQQLTQQQLNGN
uniprot
proteins
disease_involvement
DISEASE: Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]: An X-linked recessive disorder characterized by moderate to severe intellectual disability, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. {ECO:0000269|PubMed:12415272, ECO:0000269|PubMed:23229552, ECO:0000269|PubMed:23906836}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription. {ECO:0000269|PubMed:23229552}.
uniprot
proteins
mass_dalton
41290
uniprot
proteins
pubmed
11347906
uniprot
proteins
pubmed
12415272
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20813266
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23229552
uniprot
proteins
pubmed
23906836
uniprot
proteins
pubmed
24554700
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
365
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}. Note=Nuclear, it particularly localizes to the nucleolus.
uniprot
proteins