KEGG   Homo sapiens (human): 84295
Entry
84295             CDS       T01001                                 

Gene name
PHF6, BFLS, BORJ, CENP-31
Definition
(RefSeq) PHD finger protein 6
  KO
K23310  PHD finger protein 6
Organism
hsa  Homo sapiens (human)
Disease
H01915  Borjeson-Forssman-Lehmann syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    84295 (PHF6)
   03009 Ribosome biogenesis [BR:hsa03009]
    84295 (PHF6)
   03036 Chromosome and associated proteins [BR:hsa03036]
    84295 (PHF6)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Zinc finger
   Cys4HisCys3 PHD fingers
    84295 (PHF6)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  Other ribosome biogenesis factors
   84295 (PHF6)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   NuRD complex
    84295 (PHF6)
SSDB
Motif
Pfam: zf-HC5HC2H zf-HC5HC2H_2
Other DBs
NCBI-GeneID: 84295
NCBI-ProteinID: NP_001015877
OMIM: 300414
HGNC: 18145
Ensembl: ENSG00000156531
Vega: OTTHUMG00000022453
Pharos: Q8IWS0(Tbio)
UniProt: Q8IWS0
Structure
PDB: 
4NN2

Position
Xq26.2
AA seq 365 aa
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNE
SLGGFSIEDVQKEIKRGTKLMCSLCHCPGATIGCDVKTCHRTYHYHCALHDKAQIREKPS
QGIYMVYCRKHKKTAHNSEADLEESFNEHELEPSSPKSKKKSRKGRPRKTNFKGLSEDTR
STSSHGTDEMESSSYRDRSPHRSSPSDTRPKCGFCHVGEEENEARGKLHIFNAKKAAAHY
KCMLFSSGTVQLTTTSRAEFGDFDIKTVLQEIKRGKRMKCTLCSQPGATIGCEIKACVKT
YHYHCGVQDKAKYIENMSRGIYKLYCKNHSGNDERDEEDEERESKSRGKVEIDQQQLTQQ
QLNGN
NT seq 1098 nt   +upstreamnt  +downstreamnt
atgtcaagctcagttgaacagaaaaaagggcctacaagacagcgcaaatgtggcttttgt
aagtcaaatagagacaaggaatgtggacagttactaatatctgaaaaccagaaggtggca
gcgcaccataagtgcatgctcttttcatctgctttggtatcatcacactctgataatgaa
agtcttggtggattttctattgaagatgtccaaaaggaaattaaaagaggcacgaagctg
atgtgttctttgtgccattgtcctggagcaacaattggttgtgatgtgaaaacatgtcac
aggacataccactaccactgtgcattgcatgataaagctcaaatacgagagaaaccttca
caaggaatttacatggtctattgccgaaaacacaagaaaactgcacataactccgaagct
gatttagaagaaagttttaatgaacatgaactggagccctcatcacctaaaagtaaaaag
aaaagtcgcaaaggaaggccaagaaaaactaattttaaagggctgtcagaagataccagg
tccacatcctcccatggaacagatgaaatggaaagtagttcctatagagataggtctcca
cacagaagcagccctagtgacaccaggcctaaatgtggattttgccatgtaggggaggaa
gaaaatgaagcacgaggaaaactgcatatatttaatgccaagaaggcagctgcccattat
aagtgcatgttgttttcttctggcacagtccagctcacaacaacatcaagagcagaattt
ggagactttgatattaaaactgtacttcaggagattaaacgaggaaaaagaatgaaatgt
acactttgcagtcagcctggtgctactattggatgtgaaataaaagcctgtgttaagact
taccattaccactgtggagtacaagacaaagctaaatacattgaaaatatgtcacgagga
atttacaaactatactgtaaaaatcatagtggaaatgatgagagagatgaagaagatgag
gaacgagagagtaaaagccgaggaaaagtagaaattgatcagcaacaactaactcagcag
caacttaatggaaactag

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