KEGG   Homo sapiens (human): 3070
Entry
3070              CDS       T01001                                 
Symbol
HELLS, ICF4, LSH, Nbla10143, PASG, SALNR, SMARCA6
Name
(RefSeq) helicase, lymphoid specific
  KO
K19001  ATP-dependent DNA helicase
Organism
hsa  Homo sapiens (human)
Disease
H02308  Immunodeficiency-centromeric instability-facial anomalies syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    3070 (HELLS)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   Other chromatin remodeling factors
    3070 (HELLS)
SSDB
Motif
Pfam: SNF2-rel_dom Helicase_C HDA2-3 ResIII DEAD 2H-SAK Shugoshin_C
Other DBs
NCBI-GeneID: 3070
NCBI-ProteinID: NP_060533
OMIM: 603946
HGNC: 4861
Ensembl: ENSG00000119969
UniProt: Q9NRZ9
Structure
Position
10:94545788..94613905
AA seq 838 aa
MPAERPAGSGGSEAPAMVEQLDTAVITPAMLEEEEQLEAAGLERERKMLEKARMSWDRES
TEIRYRRLQHLLEKSNIYSKFLLTKMEQQQLEEQKKKEKLERKKESLKVKKGKNSIDASE
EKPVMRKKRGREDESYNISEVMSKEEILSVAKKNKKENEDENSSSTNLCVEDLQKNKDSN
SIIKDRLSETVRQNTKFFFDPVRKCNGQPVPFQQPKHFTGGVMRWYQVEGMEWLRMLWEN
GINGILADEMGLGKTVQCIATIALMIQRGVPGPFLVCGPLSTLPNWMAEFKRFTPDIPTM
LYHGTQEERQKLVRNIYKRKGTLQIHPVVITSFEIAMRDRNALQHCYWKYLIVDEGHRIK
NMKCRLIRELKRFNADNKLLLTGTPLQNNLSELWSLLNFLLPDVFDDLKSFESWFDITSL
SETAEDIIAKEREQNVLHMLHQILTPFLLRRLKSDVALEVPPKREVVVYAPLSKKQEIFY
TAIVNRTIANMFGSSEKETIELSPTGRPKRRTRKSINYSKIDDFPNELEKLISQIQPEVD
RERAVVEVNIPVESEVNLKLQNIMMLLRKCCNHPYLIEYPIDPVTQEFKIDEELVTNSGK
FLILDRMLPELKKRGHKVLLFSQMTSMLDILMDYCHLRDFNFSRLDGSMSYSEREKNMHS
FNTDPEVFIFLVSTRAGGLGINLTAADTVIIYDSDWNPQSDLQAQDRCHRIGQTKPVVVY
RLVTANTIDQKIVERAAAKRKLEKLIIHKNHFKGGQSGLNLSKNFLDPKELMELLKSRDY
EREIKGSREKVISDKDLELLLDRSDLIDQMNASGPIKEKMGIFKILENSEDSSPECLF
NT seq 2517 nt   +upstreamnt  +downstreamnt
atgccagcggaacggcccgcgggcagcggcggctcggaggctccagcaatggttgaacaa
ctggacactgctgtgattaccccggccatgctagaagaggaagaacagcttgaagctgct
ggactagagagagagcggaagatgctggaaaaggctcgcatgtcttgggatagagagtcg
acagaaattcggtaccgtagacttcaacatttgcttgaaaaaagcaatatatactccaaa
tttttattgacgaaaatggaacagcaacaattagaggaacagaagaagaaagaaaaattg
gagagaaaaaaggagtctttaaaagttaaaaagggtaaaaattcaattgatgcaagtgaa
gagaagccagttatgaggaaaaaaagaggaagagaagatgaatcatacaatatttcagag
gtcatgtcaaaagaggaaattttgtctgtggctaaaaaaaataaaaaggagaatgaggat
gaaaactcctcctctactaatctctgtgtggaagatcttcagaaaaataaagattcgaat
agtataattaaagatagattgtctgaaacggttaggcagaatactaaattcttttttgac
ccagtccggaagtgtaatggtcagccagtaccttttcaacaaccaaagcacttcactgga
ggagtgatgcgatggtaccaagtagaaggcatggaatggcttaggatgctttgggaaaat
ggaattaatggcattttagcagatgaaatgggattgggtaagacagttcagtgcattgct
actattgcattgatgattcagagaggagtaccaggaccttttcttgtctgtggccctttg
tctacacttcctaactggatggctgaattcaaaagatttacaccagatatccctacaatg
ttatatcatggaacccaggaggaacgtcaaaaattggtaagaaatatttacaaacggaaa
gggactttgcagattcatcctgtggtaatcacgtcatttgaaatagccatgagagaccga
aatgcgttacagcattgctattggaaatacttaatagtagatgaaggacacaggattaag
aatatgaagtgccgtctaatcagggagttaaaacgattcaatgctgataacaaacttctt
ttgactggtactcccttgcaaaacaatttatcagaactttggtcattgctaaactttttg
ttgccagatgtatttgatgacttgaaaagctttgagtcttggtttgacatcactagtctt
tctgaaactgctgaagatattattgctaaagaaagagaacagaatgtattgcatatgctg
caccagattttaacacctttcttattgagaagactgaagtctgatgttgctcttgaagtt
cctcctaaacgagaagtagtcgtttatgctccactttcaaagaagcaggagatcttttat
acagccattgtgaaccgtacaattgcaaacatgtttggatccagtgagaaagaaacaatt
gagttaagtcctactggtcgaccaaaacgacgaactagaaaatcaataaattacagcaaa
atagatgatttccctaatgaattggaaaaactgatcagtcaaatacagccagaggtggac
cgagaaagagctgttgtggaagtgaatatccctgtagaatctgaagttaatctgaagctg
cagaatataatgatgctacttcgtaaatgttgtaatcatccatatttgattgaatatcct
atagaccctgttacacaagaatttaagatcgatgaagaattggtaacaaattctgggaag
ttcttgattttggatcgaatgctgccagaactaaaaaaaagaggtcacaaggtgctgctt
ttttcacaaatgacaagcatgttggacattttgatggattactgccatctcagagatttc
aacttcagcaggcttgatgggtccatgtcttactcagagagagaaaaaaacatgcacagc
ttcaacacggatccagaggtgtttatcttcttagtgagtacacgagctggtggcctgggc
attaatctgactgcagcagatacagttatcatttatgatagtgattggaacccccagtcg
gatcttcaggcccaggatagatgtcatagaattggtcagacaaagccagttgttgtttat
cgccttgttacagcaaatactatcgatcagaaaattgtggaaagagcagctgctaaaagg
aaactggaaaagttgatcatccataaaaatcatttcaaaggtggtcagtctggattaaat
ctgtctaagaatttcttagatcctaaggaattaatggaattattaaaatctagagattat
gaaagggaaataaaaggatcaagagagaaggtcattagtgataaagatctagagttgttg
ttagatcgaagtgatcttattgatcaaatgaatgcttcaggaccaattaaagagaagatg
gggatattcaagatattagaaaattctgaagattccagtcctgaatgtttgttttaa

  All links  
Disease (2)   
   OMIM (2)   
Gene (17)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (68)   
   RefSeq(nuc) (12)   
   GenBank (28)   
   EMBL (28)   
3D Structure (1)   
   PDB (1)   
Protein domain (7)   
   Pfam (7)   
All databases (107)   

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