KEGG   Homo sapiens (human): 284058
Entry
284058            CDS       T01001                                 
Symbol
KANSL1, C17DELq21.31, CENP-36, DEL17Q21.31, KDVS, KIAA1267, MSL1v1, NSL1, hMSL1v1
Name
(RefSeq) KAT8 regulatory NSL complex subunit 1
  KO
K18400  KAT8 regulatory NSL complex subunit 1
Organism
hsa  Homo sapiens (human)
Disease
H02121  Koolen-De Vries syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    284058 (KANSL1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HAT complexes
    NSL complex
     284058 (KANSL1)
SSDB
Motif
Pfam: PEHE
Other DBs
NCBI-GeneID: 284058
NCBI-ProteinID: NP_001180395
OMIM: 612452
HGNC: 24565
Ensembl: ENSG00000120071
UniProt: Q7Z3B3
Structure
LinkDB
Position
17:complement(46029916..46225367)
AA seq 1105 aa
MAAMAPALTDAAAEAHHIRFKLAPPSSTLSPGSAENNGNANILIAANGTKRKAIAAEDPS
LDFRNNPTKEDLGKLQPLVASYLCSDVTSVPSKESLKLQGVFSKQTVLKSHPLLSQSYEL
RAELLGRQPVLEFSLENLRTMNTSGQTALPQAPVNGLAKKLTKSSTHSDHDNSTSLNGGK
RALTSSALHGGEMGGSESGDLKGGMTNCTLPHRSLDVEHTTLYSNNSTANKSSVNSMEQP
ALQGSSRLSPGTDSSSNLGGVKLEGKKSPLSSILFSALDSDTRITALLRRQADIESRARR
LQKRLQVVQAKQVERHIQHQLGGFLEKTLSKLPNLESLRPRSQLMLTRKAEAALRKAASE
TTTSEGLSNFLKSNSISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTR
ADPEQRHVPLRRRSEWKWAADRAAIVSRWNWLQAHVSDLEYRIRQQTDIYKQIRANKGLI
VLGEVPPPEHTTDLFLPLSSEVKTDHGTDKLIESVSQPLENHGAPIIGHISESLSTKSCG
ALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCVAARTRPVLSCK
KRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQ
LDSCVHPVLAFPDDVPTSLHFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSAR
KDRHKLVSSFLTTAKLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAERLLNPPPPVHD
PNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDSPAPASSSS
QVTASTSQQPVRRRRGESSFDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKG
SPDEENEEIEDLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYRSSDGRTTPQLG
SANPSTPQPASPDVSSSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRC
STPELGLDEQSVQPWERRTFPLAHSPQAECEDQLDAQERAARCTRRTSGSKTGRETEAAP
TSPPIVPLKSRHLVAAATAQRPTHR
NT seq 3318 nt   +upstreamnt  +downstreamnt
atggctgcgatggcgcccgctctcactgacgcagcagctgaagcacaccatatccggttc
aaactggctcccccatcctctaccttgtcccctggcagtgccgaaaataacggcaacgcc
aacatccttattgctgccaacggaaccaaaagaaaagccattgctgcagaggatcccagc
ctagatttccgaaataatcctaccaaggaagacttgggaaagctgcaaccactggtggca
tcttatctctgctctgatgtaacatctgttccctcaaaggagtctttgaagttgcaaggg
gtcttcagcaagcagacagtccttaaatctcatcctctcttatctcagtcctatgaactc
cgagctgagctgttggggagacagccagttttggagttttccttagaaaatcttagaacc
atgaatacgagtggtcagacagctctgccacaagcacctgtaaatgggttggctaagaaa
ttgactaaaagttcaacacattctgatcatgacaattccacttccctcaatgggggaaaa
cgggctctcacttcatctgctcttcatgggggtgaaatgggaggatctgaatctggggac
ttgaaggggggtatgaccaattgcactcttccacatagaagccttgatgtagaacacaca
actttgtatagcaataatagcactgcaaacaaatcctctgtcaattccatggaacagccg
gcacttcaaggaagcagtagattatcacctggtacagactccagctctaacttggggggt
gtcaaattggagggtaaaaagtctcccctgtcttccattcttttcagtgctttagattct
gacacaaggataacagctttactgcggcgacaggctgacattgagagccgtgcccgcaga
ttacaaaagcgcttacaggttgtgcaagccaagcaggttgagaggcatatacaacatcag
ctgggtggatttttggagaagactttgagcaaactgccaaacttggaatccttgagacca
cggagccagttgatgctgactcgaaaggctgaagctgccttgagaaaagctgccagtgag
accaccacttcagagggacttagcaactttctgaaaagcaattcaatttcagaagaattg
gagagatttacagctagtggcatagccaacttgaggtgcagtgaacaggcatttgattca
gatgtcactgacagtagttcaggaggggagtctgatattgaagaggaagaactgaccaga
gctgatcccgagcagcgtcatgtacccctgagacgcaggtcagaatggaaatgggctgca
gaccgggcagctattgtcagccgctggaactggcttcaggctcatgtttctgacttggaa
tatcgaattcgtcagcaaacagacatttacaaacagatacgtgctaataaggggttgata
gttcttggggaggtacctcccccagagcatacaacagacttatttcttccacttagttct
gaggtgaagacagatcatgggactgataaattgattgagtctgtttctcagccattggaa
aaccatggtgcccctattattggtcatatttcagagtcactgtctaccaaatcatgtgga
gcactcagacctgtcaatggagttattaacactcttcagcctgtcttggcagaccacatt
ccaggtgacagctctgatgctgaggaacaattacataagaagcaacgactgaatctcgtc
tcttcatcatctgatggcacctgtgtggcagcccggacacgtcctgtactgagctgtaag
aagcggaggcttgttcgacccaacagcatcgttcctctttccaagaaggttcaccggaac
agcacaatccgccctggctgtgatgtgaatccctcctgcgcactgtgtggttcaggcagc
atcaacaccatgcctcccgaaattcactatgaagcccctctgttggaacgtctttcccag
ttggactcttgtgttcatcctgttctagcatttccagatgatgttcccacaagcctgcat
ttccagagcatgctgaaatctcagtggcagaacaagccttttgacaaaatcaaacctccc
aaaaagttatcgcttaagcacagagcacccatgccgggcagtctgccagattcagctcgt
aaggacaggcacaaattggtcagctccttcctaacaacagccaagctgtcccatcaccaa
acccggcctgacaggacccacaggcagcacttagacgatgtgggggccgtgcccatggtg
gagcgagtgacagcgccaaaagcagagcgcttgctcaacccaccaccacccgtgcatgac
ccaaaccacagcaaaatgagattgcgagaccattcatctgagagaagtgaagtgttgaag
catcacacagacatgagcagttcgagctacttggcagccacccaccatcctccacacagt
cccttggtgcgacagctctccacctcctcagattcccctgcacccgccagctctagctca
caggttacagccagcacatcgcagcagccagtaaggaggagaaggggagagagctcattt
gatattaacaacattgtcatcccaatgtctgttgctgcaacaactcgcgtagagaaactg
caatacaaggaaatccttacgcccagctggcgggaggttgatcttcagtctctgaagggg
agtcctgatgaggagaatgaagagattgaggacctatccgacgcagccttcgccgccctg
catgccaaatgtgaggagatggagagggcacggtggctgtggaccacgagtgtgccaccc
cagcggcggggcagcaggtcctacaggtcatcagacggccggacaaccccccagctgggc
agtgccaacccctccaccccccagcctgcctcccctgatgtcagcagtagccactctttg
tcagaatactcccatggtcagtcccctaggagccccattagcccggaactgcactcagca
cccctcacccctgtggctcgggacactccgcgacacttagccagtgaggatacccgttgt
tccacaccagagctggggctggatgaacagtctgtccagccctgggagcggcggaccttc
cccctggcgcacagtccccaggcggagtgtgaggaccagctggatgcacaggagcgagca
gcccgctgcactcgacgcacctcaggcagcaagactggccgggagacagaggcagcgccc
acctcgcctcccattgtccccctcaagagtcggcatctggtggcagcagccacagctcag
cgcccgactcacagatga

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