KEGG   Homo sapiens (human): 4796
Entry
4796              CDS       T01001                                 
Symbol
TONSL, IKBR, NFKBIL2, SEMDSP
Name
(RefSeq) tonsoku like, DNA repair protein
  KO
K09257  NF-kappa-B inhibitor-like protein 2
Organism
hsa  Homo sapiens (human)
Disease
H02187  Spondyloepimetaphyseal dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    4796 (TONSL)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    4796 (TONSL)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  beta-Scaffold factors with minor groove contacts
   RHR (Rel homology region) Ankyrin only
    4796 (TONSL)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    Other HR factors
     4796 (TONSL)
SSDB
Motif
Pfam: Ank Ank_4 Ank_2 Ank_5 Ank_3 LRR_6 TPR_12 TPR_8 TPR_2 TPR_1 TPR_7 TPR_10 RPN7 ANAPC3 Par3_HAL_N_term LRR_8 UPF0697
Other DBs
NCBI-GeneID: 4796
NCBI-ProteinID: NP_038460
OMIM: 604546
HGNC: 7801
Ensembl: ENSG00000160949
UniProt: Q96HA7
Structure
Position
8:complement(144428775..144444440)
AA seq 1378 aa
MSLERELRQLSKAKAKAQRAGQRREEAALCHQLGELLAGHGRYAEALEQHWQELQLRERA
DDPLGCAVAHRKIGERLAEMEDYPAALQHQHQYLELAHSLRNHTELQRAWATIGRTHLDI
YDHCQSRDALLQAQAAFEKSLAIVDEELEGTLAQGELNEMRTRLYLNLGLTFESLQQTAL
CNDYFRKSIFLAEQNHLYEDLFRARYNLGTIHWRAGQHSQAMRCLEGARECAHTMRKRFM
ESECCVVIAQVLQDLGDFLAAKRALKKAYRLGSQKPVQRAAICQNLQHVLAVVRLQQQLE
EAEGRDPQGAMVICEQLGDLFSKAGDFPRAAEAYQKQLRFAELLDRPGAERAIIHVSLAT
TLGDMKDHHGAVRHYEEELRLRSGNVLEEAKTWLNIALSREEAGDAYELLAPCFQKALSC
AQQAQRPQLQRQVLQHLHTVQLRLQPQEAPETETRLRELSVAEDEDEEEEAEEAAATAES
EALEAGEVELSEGEDDTDGLTPQLEEDEELQGHLGRRKGSKWNRRNDMGETLLHRACIEG
QLRRVQDLVRQGHPLNPRDYCGWTPLHEACNYGHLEIVRFLLDHGAAVDDPGGQGCEGIT
PLHDALNCGHFEVAELLLERGASVTLRTRKGLSPLETLQQWVKLYRRDLDLETRQKARAM
EMLLQAAASGQDPHSSQAFHTPSSLLFDPETSPPLSPCPEPPSNSTRLPEASQAHVRVSP
GQAAPAMARPRRSRHGPASSSSSSEGEDSAGPARPSQKRPRCSATAQRVAAWTPGPASNR
EAATASTSRAAYQAAIRGVGSAQSRLGPGPPRGHSKALAPQAALIPEEECLAGDWLELDM
PLTRSRRPRPRGTGDNRRPSSTSGSDSEESRPRARAKQVRLTCMQSCSAPVNAGPSSLAS
EPPGSPSTPRVSEPSGDSSAAGQPLGPAPPPPIRVRVQVQDHLFLIPVPHSSDTHSVAWL
AEQAAQRYYQTCGLLPRLTLRKEGALLAPQDLIPDVLQSNDEVLAEVTSWDLPPLTDRYR
RACQSLGQGEHQQVLQAVELQGLGLSFSACSLALDQAQLTPLLRALKLHTALRELRLAGN
RLGDKCVAELVAALGTMPSLALLDLSSNHLGPEGLRQLAMGLPGQATLQSLEELDLSMNP
LGDGCGQSLASLLHACPLLSTLRLQACGFGPSFFLSHQTALGSAFQDAEHLKTLSLSYNA
LGAPALARTLQSLPAGTLLHLELSSVAAGKGDSDLMEPVFRYLAKEGCALAHLTLSANHL
GDKAVRDLCRCLSLCPSLISLDLSANPEISCASLEELLSTLQKRPQGLSFLGLSGCAVQG
PLGLGLWDKIAAQLRELQLCSRRLCAEDRDALRQLQPSRPGPGECTLDHGSKLFFRRL
NT seq 4137 nt   +upstreamnt  +downstreamnt
atgagcctggagcgcgagcttcgccagctgagcaaggcgaaagccaaggcgcagagggcc
gggcagcggcgcgaagaggccgcgctgtgccaccagctgggggagctcctggccggccat
ggccgctacgccgaggctctggagcagcactggcaggagctgcagcttcgggagcgcgct
gacgaccctctgggctgtgccgtggcccaccgcaagatcggagagcgcctggccgagatg
gaggactacccggctgccttgcagcaccagcaccagtacctggagctggcacattccctg
cgcaaccacacggagctgcagagggcctgggccaccatcggccgcacccacctggacatc
tatgaccactgccagtcgagggatgctttgctgcaggcacaggctgcctttgagaagagc
ttggctattgtggatgaggagctggaggggacactggcccagggagagctgaatgagatg
aggacccgcctctatctcaacctgggcctcacctttgagagcctgcagcagacagccctg
tgcaacgattacttcaggaagagcatcttccttgcggagcagaaccacctttacgaggac
ctattccgcgcccgctacaacctgggcaccatccactggcgcgcgggccagcactcccag
gctatgcgctgcttggagggtgcccgggagtgtgcgcacaccatgaggaagcggttcatg
gagagcgagtgctgcgtggttattgcacaggtcctccaagacctgggagactttttggct
gccaagcgagccctgaagaaggcctacaggctgggctcccagaagcctgtgcagagggca
gccatctgtcagaacctccagcatgtgctggcagtggtccggctgcagcaacagctggaa
gaggctgagggcagagaccctcagggtgccatggtcatctgtgagcagctaggggacctc
ttctccaaggcaggagactttcccagggcagctgaggcttaccagaagcagctgcgtttt
gctgagctgctggacagaccgggtgctgagcgggccatcatccacgtgtccctggccacc
acactgggagacatgaaggaccaccatggggccgtgcgccactatgaggaggaactgagg
ctgcgcagcggcaacgtgctggaggaggccaagacctggctgaacattgcactgtcccgc
gaggaggccggcgatgcctacgagctgctggccccgtgcttccagaaagcgctcagctgt
gcccagcaggcccagcgtccccagctgcagaggcaggtcttgcagcatctccataccgtg
cagctgaggctgcagccccaggaggcccctgagaccgaaaccagactacgggagctcagt
gtagctgaagatgaagatgaggaggaggaggcggaggaggcggcagccacagcggagagc
gaagccctggaggccggcgaggtggagctctcagagggcgaggacgacaccgatggcctg
accccgcagctggaggaggacgaggagcttcagggccacctgggccggcggaaggggagc
aagtggaaccggcgaaacgacatgggggagaccctgctgcaccgagcctgcatcgagggc
cagctgcgccgcgtccaggaccttgtgaggcagggccacccccttaaccctcgggactac
tgtggctggacacctctgcacgaggcctgcaactacgggcatctagaaattgtccgcttc
ctgctggaccacggggccgcagtggacgacccaggtggccagggctgcgaaggcatcacc
cccctccacgatgccctcaactgtggccacttcgaggtggctgagctgctgcttgaacgg
ggggcgtccgtcaccctccgcactcgaaagggcctcagcccgctggagacgctgcagcag
tgggtgaagctgtaccgcagggacctggacctggagacgcggcagaaggccagggccatg
gagatgctgctccaggcggctgcctcgggccaagatccccacagctcccaggccttccac
accccaagcagccttctgtttgaccccgagacctctcctcctttgagcccctgcccagaa
cccccctctaatagcactagactcccagaggcctctcaggcccatgtcagggtctcccca
gggcaggcggcaccagccatggccaggcctcggaggagcaggcatgggccagccagcagc
agcagcagctcagaaggcgaggacagcgcaggccccgcacggccgtcccagaagaggcct
cggtgctcggccacagcacaacgggtggcagcctggacgcctggccccgccagcaacagg
gaagcagccacagccagcaccagccgggcagcctaccaggcagccatccggggtgtgggc
agtgctcagagccggctggggcctggcccaccgcggggccacagcaaagcccttgccccc
caggcagcgctcatcccggaggaggagtgcctggccggggactggctggagctggacatg
cccctgacccgcagccgccggccccgcccccggggcactggagacaaccgcaggcccagt
agtacctctgggtcggacagtgaggagagcaggccccgtgcccgagccaagcaggtccgc
ctgacctgcatgcagagttgcagtgcgccagttaacgcagggcccagcagcctggcttca
gaacctccagggagccccagcacccccagggtctcagagcccagtggggacagctctgcg
gcaggccagcccttgggtccggccccgccccctcccatccgggttcgagttcaagttcag
gatcatctcttcctcatccctgtcccacacagcagtgacacccactctgtggcctggctg
gccgagcaggcggcccagcgctactaccagacctgcgggctgctgcccaggctcacccta
cggaaagagggggccctgctggccccacaggacctcatccctgatgtgctgcagagcaat
gacgaggtgttggctgaggtgacttcgtgggacctgcccccgttgactgaccgctaccgc
agggcctgccagagcctggggcaaggggagcaccaacaggtgctgcaggccgtggagctc
cagggcttgggcctctcgttcagcgcctgctccctggccctggaccaggcccagcttaca
cccctgctgcgggccctcaagctgcacacagcactccgggagctgcgcctggcagggaac
cggctgggggacaagtgtgtggctgagctggtggctgccctgggcaccatgcccagcctg
gccctccttgacctctcctccaatcacctgggtcccgaaggcctgcgccagcttgccatg
gggctcccaggccaagccaccttgcagagtttggaggagctggacttaagcatgaacccc
ctgggggacggctgtggccagtccctggcctccctcctgcacgcctgccccttactcagc
accctgcgcctgcaggcgtgtggcttcggccccagcttctttctgagccaccagacagca
ctgggtagtgctttccaagatgctgagcacctgaagaccctgtccctgtcctacaacgcc
ctgggagcccctgccctggccaggaccctgcagagcctgcccgccggcaccctcctgcac
ttagagctcagctccgtggcagccggcaagggtgattcggacctcatggagcctgtattc
cgatacctggccaaggaaggctgtgctctagcccacctgaccctgtctgcaaaccacctg
ggggacaaggctgttagagacctgtgcagatgtctctctctgtgcccctcactcatctca
ctggatctgtctgccaaccctgagatcagctgtgccagcttggaagagctcctgtccacc
ctccaaaagcggccccaaggccttagcttccttggcctgtcaggctgcgccgtccagggt
cccctgggcctgggcctgtgggacaagatagccgcgcagctccgggaactgcagctgtgc
agcagacgcctctgcgctgaggacagggacgccctgcgccagctgcagcccagtcggccg
ggccccggcgagtgcacgctggaccacggctccaagctcttctttcggcgcctctga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (70)   
   KEGG ORTHOLOGY (1)   
   RefGene (60)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (17)   
   RefSeq(nuc) (7)   
   GenBank (5)   
   EMBL (5)   
3D Structure (1)   
   PDB (1)   
Protein domain (17)   
   Pfam (17)   
All databases (121)   

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