KEGG   Homo sapiens (human): 5932
Entry
5932              CDS       T01001                                 
Symbol
RBBP8, COM1, CTIP, JAWAD, JWDS, RIM, SAE2, SCKL2
Name
(RefSeq) DNA endonuclease RBBP8 isoform a
  KO
K20773  DNA endonuclease RBBP8 [EC:3.1.-.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03440  Homologous recombination
Network
nt06506  Double-strand break repair
  Element
N01446  DNA end resection and RPA loading
Disease
H00992  Seckel syndrome
H02881  Jawad syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03440 Homologous recombination
    5932 (RBBP8)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    5932 (RBBP8)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    BRCA1-C complex
     5932 (RBBP8)
SSDB
Motif
Pfam: CtIP_N SAE2
Other DBs
NCBI-GeneID: 5932
NCBI-ProteinID: NP_002885
OMIM: 604124
HGNC: 9891
Ensembl: ENSP00000323050.5
UniProt: Q99708
Structure
Position
18:22914139..23026486
AA seq 897 aa
MNISGSSCGSPNSADTSSDFKDLWTKLKECHDREVQGLQVKVTKLKQERILDAQRLEEFF
TKNQQLREQQKVLHETIKVLEDRLRAGLCDRCAVTEEHMRKKQQEFENIRQQNLKLITEL
MNERNTLQEENKKLSEQLQQKIENDQQHQAAELECEEDVIPDSPITAFSFSGVNRLRRKE
NPHVRYIEQTHTKLEHSVCANEMRKVSKSSTHPQHNPNENEILVADTYDQSQSPMAKAHG
TSSYTPDKSSFNLATVVAETLGLGVQEESETQGPMSPLGDELYHCLEGNHKKQPFEESTR
NTEDSLRFSDSTSKTPPQEELPTRVSSPVFGATSSIKSGLDLNTSLSPSLLQPGKKKHLK
TLPFSNTCISRLEKTRSKSEDSALFTHHSLGSEVNKIIIQSSNKQILINKNISESLGEQN
RTEYGKDSNTDKHLEPLKSLGGRTSKRKKTEEESEHEVSCPQASFDKENAFPFPMDNQFS
MNGDCVMDKPLDLSDRFSAIQRQEKSQGSETSKNKFRQVTLYEALKTIPKGFSSSRKASD
GNCTLPKDSPGEPCSQECIILQPLNKCSPDNKPSLQIKEENAVFKIPLRPRESLETENVL
DDIKSAGSHEPIKIQTRSDHGGCELASVLQLNPCRTGKIKSLQNNQDVSFENIQWSIDPG
ADLSQYKMDVTVIDTKDGSQSKLGGETVDMDCTLVSETVLLKMKKQEQKGEKSSNEERKM
NDSLEDMFDRTTHEEYESCLADSFSQAADEEEELSTATKKLHTHGDKQDKVKQKAFVEPY
FKGDERETSLQNFPHIEVVRKKEERRKLLGHTCKECEIYYADMPAEEREKKLASCSRHRF
RYIPPNTPENFWEVGFPSTQTCMERGYIKEDLDPCPRPKRRQPYNAIFSPKGKEQKT
NT seq 2694 nt   +upstreamnt  +downstreamnt
atgaacatctcgggaagcagctgtggaagccctaactctgcagatacatctagtgacttt
aaggacctttggacaaaactaaaagaatgtcatgatagagaagtacaaggtttacaagta
aaagtaaccaagctaaaacaggaacgaatcttagatgcacaaagactagaagaattcttc
accaaaaatcaacagctgagggaacagcagaaagtccttcatgaaaccattaaagtttta
gaagatcggttaagagcaggcttatgtgatcgctgtgcagtaactgaagaacatatgcgg
aaaaaacagcaagagtttgaaaatatccggcagcagaatcttaaacttattacagaactt
atgaatgaaaggaatactctacaggaagaaaataaaaagctttctgaacaactccagcag
aaaattgagaatgatcaacagcatcaagcagctgagcttgaatgtgaggaagacgttatt
ccagattcaccgataacagccttctcattttctggcgttaaccggctacgaagaaaggag
aacccccatgtccgatacatagaacaaacacatactaaattggagcactctgtgtgtgca
aatgaaatgagaaaagtttccaagtcttcaactcatccacaacataatcctaatgaaaat
gaaattctagtagctgacacttatgaccaaagtcaatctccaatggccaaagcacatgga
acaagcagctatacccctgataagtcatcttttaatttagctacagttgttgctgaaaca
cttggacttggtgttcaagaagaatctgaaactcaaggtcccatgagcccccttggtgat
gagctctaccactgtctggaaggaaatcacaagaaacagccttttgaggaatctacaaga
aatactgaagatagtttaagattttcagattctacttcaaagactcctcctcaagaagaa
ttacctactcgagtgtcatctcctgtatttggagctacctctagtatcaaaagtggttta
gatttgaatacaagtttgtccccttctcttttacagcctgggaaaaaaaaacatctgaaa
acactcccttttagcaacacttgtatatctagattagaaaaaactagatcaaaatctgaa
gatagtgcccttttcacacatcacagtcttgggtctgaagtgaacaagatcattatccag
tcatctaataaacagatacttataaataaaaatataagtgaatccctaggtgaacagaat
aggactgagtacggtaaagattctaacactgataaacatttggagcccctgaaatcattg
ggaggccgaacatccaaaaggaagaaaactgaggaagaaagtgaacatgaagtaagctgc
ccccaagcttcttttgataaagaaaatgctttcccttttccaatggataatcagttttcc
atgaatggagactgtgtgatggataaacctctggatctgtctgatcgattttcagctatt
cagcgtcaagagaaaagccaaggaagtgagacttctaaaaacaaatttaggcaagtgact
ctttatgaggctttgaagaccattccaaagggcttttcctcaagccgtaaggcctcagat
ggcaactgcacgttgcccaaagattccccaggggagccctgttcacaggaatgcatcatc
cttcagcccttgaataaatgctctccagacaataaaccatcattacaaataaaagaagaa
aatgctgtctttaaaattcctctacgtccacgtgaaagtttggagactgagaatgtttta
gatgacataaagagtgctggttctcatgagccaataaaaatacaaaccaggtcagaccat
ggaggatgtgaacttgcatcagttcttcagttaaatccatgtagaactggtaaaataaag
tctctacaaaacaaccaagatgtatcctttgaaaatatccagtggagtatagatccggga
gcagacctttctcagtataaaatggatgttactgtaatagatacaaaggatggcagtcag
tcaaaattaggaggagagacagtggacatggactgtacattggttagtgaaaccgttctc
ttaaaaatgaagaagcaagagcagaagggagaaaaaagttcaaatgaagaaagaaaaatg
aatgatagcttggaagatatgtttgatcggacaacacatgaagagtatgaatcctgtttg
gcagacagtttctcccaagcagcagatgaagaggaggaattgtctactgccacaaagaaa
ctacacactcatggtgataaacaagacaaagtcaagcagaaagcgtttgtggagccgtat
tttaaaggtgatgaaagagagactagcttgcaaaattttcctcatattgaggtggttcgg
aaaaaagaggagagaagaaaactgcttgggcacacgtgtaaggaatgtgaaatttattat
gcagatatgccagcagaagaaagagaaaagaaattggcttcctgctcaagacaccgattc
cgctacattccacccaacacaccagagaatttttgggaagttggttttccttccactcag
acttgtatggaaagaggttatattaaggaagatcttgatccttgtcctcgtccaaaaaga
cgtcagccttacaacgcaatattttctccaaaaggcaaggagcagaagacatag

  All links  
Disease (3)   
   OMIM (3)   
Gene (23)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (12)   
   OC (1)   
Protein sequence (26)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (24)   
DNA sequence (40)   
   RefSeq(nuc) (24)   
   GenBank (8)   
   EMBL (8)   
3D Structure (4)   
   PDB (4)   
Protein domain (2)   
   Pfam (2)   
All databases (98)   

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