KEGG   Homo sapiens (human): 83990
Entry
83990             CDS       T01001                                 
Symbol
BRIP1, BACH1, FANCJ, OF
Name
(RefSeq) BRCA1 interacting helicase 1
  KO
K15362  fanconi anemia group J protein [EC:5.6.2.3]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03440  Homologous recombination
hsa03460  Fanconi anemia pathway
Network
nt06508  Interstrand crosslink repair
  Element
N01466  Homologous recombination in ICLR
Disease
H00031  Breast cancer
H00238  Fanconi anemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03440 Homologous recombination
    83990 (BRIP1)
   03460 Fanconi anemia pathway
    83990 (BRIP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    83990 (BRIP1)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.3  DNA 5'-3' helicase
     83990 (BRIP1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    BRCA1-B complex
     83990 (BRIP1)
   FA (Fanconi anemia) pathway
    Downstream FA components
     83990 (BRIP1)
SSDB
Motif
Pfam: Helicase_C_2 DEAD_2 DEAD ResIII DUF4769 HBB
Other DBs
NCBI-GeneID: 83990
NCBI-ProteinID: NP_114432
OMIM: 605882
HGNC: 20473
Ensembl: ENSG00000136492
Pharos: Q9BX63(Tbio)
UniProt: Q9BX63
Structure
LinkDB
Position
17:complement(61679139..61863528)
AA seq 1249 aa
MSSMWSEYTIGGVKIYFPYKAYPSQLAMMNSILRGLNSKQHCLLESPTGSGKSLALLCSA
LAWQQSLSGKPADEGVSEKAEVQLSCCCACHSKDFTNNDMNQGTSRHFNYPSTPPSERNG
TSSTCQDSPEKTTLAAKLSAKKQASIYRDENDDFQVEKKRIRPLETTQQIRKRHCFGTEV
HNLDAKVDSGKTVKLNSPLEKINSFSPQKPPGHCSRCCCSTKQGNSQESSNTIKKDHTGK
SKIPKIYFGTRTHKQIAQITRELRRTAYSGVPMTILSSRDHTCVHPEVVGNFNRNEKCME
LLDGKNGKSCYFYHGVHKISDQHTLQTFQGMCKAWDIEELVSLGKKLKACPYYTARELIQ
DADIIFCPYNYLLDAQIRESMDLNLKEQVVILDEAHNIEDCARESASYSVTEVQLRFARD
ELDSMVNNNIRKKDHEPLRAVCCSLINWLEANAEYLVERDYESACKIWSGNEMLLTLHKM
GITTATFPILQGHFSAVLQKEEKISPIYGKEEAREVPVISASTQIMLKGLFMVLDYLFRQ
NSRFADDYKIAIQQTYSWTNQIDISDKNGLLVLPKNKKRSRQKTAVHVLNFWCLNPAVAF
SDINGKVQTIVLTSGTLSPMKSFSSELGVTFTIQLEANHIIKNSQVWVGTIGSGPKGRNL
CATFQNTETFEFQDEVGALLLSVCQTVSQGILCFLPSYKLLEKLKERWLSTGLWHNLELV
KTVIVEPQGGEKTNFDELLQVYYDAIKYKGEKDGALLVAVCRGKVSEGLDFSDDNARAVI
TIGIPFPNVKDLQVELKRQYNDHHSKLRGLLPGRQWYEIQAYRALNQALGRCIRHRNDWG
ALILVDDRFRNNPSRYISGLSKWVRQQIQHHSTFESALESLAEFSKKHQKVLNVSIKDRT
NIQDNESTLEVTSLKYSTSPYLLEAASHLSPENFVEDEAKICVQELQCPKIITKNSPLPS
SIISRKEKNDPVFLEEAGKAEKIVISRSTSPTFNKQTKRVSWSSFNSLGQYFTGKIPKAT
PELGSSENSASSPPRFKTEKMESKTVLPFTDKCESSNLTVNTSFGSCPQSETIISSLKID
ATLTRKNHSEHPLCSEEALDPDIELSLVSEEDKQSTSNRDFETEAEDESIYFTPELYDPE
DTDEEKNDLAETDRGNRLANNSDCILAKDLFEIRTIKEVDSAREVKAEDCIDTKLNGILH
IEESKIDDIDGNVKTTWINELELGKTHEIEIKNFKPSPSKNKGMFPGFK
NT seq 3750 nt   +upstreamnt  +downstreamnt
atgtcttcaatgtggtctgaatatacaattggtggggtgaagatttactttccttataaa
gcttacccgtcacagcttgctatgatgaattctattctcagaggattaaacagcaagcaa
cattgtttgttggagagtcccacaggaagtggaaaaagcttagccttactttgttctgct
ttagcatggcaacaatctcttagtgggaaaccagcagatgagggcgtaagtgaaaaagct
gaagtacaattgtcatgttgttgtgcatgccattcaaaggattttacaaacaatgacatg
aaccaaggaacttcacgtcatttcaactatccaagcacaccaccttctgaaagaaatggc
acttcatcaacttgtcaagactcccctgaaaaaaccactctggctgcaaagttatctgct
aagaaacaggcatccatatacagagatgaaaatgatgattttcaagtagagaagaaaaga
attcgacccttagaaactacacagcagattagaaaacgtcattgctttggaacagaagta
cacaatttggatgcaaaagttgattcaggaaagactgtaaaactcaactctccactggaa
aagataaactccttttcgccacagaaaccccctggccactgttctaggtgctgttgttct
actaaacaaggaaacagtcaagagtcatcgaataccattaagaaggatcatacagggaaa
tccaagatacccaaaatatattttgggacacgcacacacaagcagattgctcagattact
agagagctccggaggacggcatattcaggggttccaatgactattctttccagcagggat
catacttgtgtccatcctgaggtagtcggtaacttcaacagaaatgagaagtgcatggaa
ttgctagatgggaaaaacggaaaatcctgctatttttatcatggagttcataaaattagt
gatcagcacacattacagactttccaagggatgtgcaaagcctgggatatagaagaactt
gtcagcctggggaagaaactaaaggcctgtccatattacacagcccgagaactaatacaa
gatgctgacatcatattttgtccctacaactatcttctagatgcacaaataagggaaagt
atggatttaaatctgaaagaacaggttgtcattttagatgaagctcataacatcgaggac
tgtgctcgggaatcagcaagttacagtgtaacagaagttcagcttcggtttgctcgggat
gaactagatagtatggtcaacaataatataaggaagaaagatcatgaacccctacgagct
gtgtgctgtagcctcattaattggttagaagcaaacgctgaatatcttgtagaaagagat
tatgaatcagcttgtaaaatatggagtggaaatgaaatgctcttaactttacacaaaatg
ggtatcaccactgctacttttcccattttgcagggacatttttctgctgttcttcaaaaa
gaggaaaaaatctcaccaatttatggtaaagaggaggcaagagaagtacctgttattagt
gcatcaactcaaataatgcttaaaggactttttatggtacttgactatctttttaggcaa
aatagcagatttgcagatgattataaaattgcgattcaacagacttactcctggacaaat
cagattgatatttcagacaaaaatgggttgttggttctaccaaaaaataagaaacgttca
cgacagaaaactgcagttcatgtgctaaacttttggtgcttaaatccagctgtggccttt
tcagatattaatggcaaagttcagaccattgttttgacatctggtacattatcaccaatg
aaatccttttcgtcagaacttggtgttacatttactatccagctggaggctaatcatatc
attaaaaattcacaggtttgggttggtaccattgggtcaggccccaagggtcggaatctc
tgtgctaccttccagaatactgaaacatttgagttccaagatgaagtgggagcacttttg
ttatctgtgtgccagactgtgagccaaggaattttgtgtttcttgccatcttacaagtta
ttagaaaaattaaaagaacgttggctctctactggtttatggcataatctggagttggtg
aagacagtcattgtagaaccacagggaggagaaaaaacaaattttgatgaattactgcag
gtgtactatgacgcaatcaaatacaaaggagagaaagatggagctctcctggtagcagtt
tgtcgtggtaaagtgagtgagggtctggatttctcagatgacaatgcccgtgctgtcata
acaataggaattccttttccaaatgtgaaagatctacaggttgaactaaaacgacaatac
aatgaccaccattcaaaattgagaggtcttctacctggccgtcagtggtatgaaattcaa
gcatacagggccttaaaccaggcccttggtagatgtattagacacagaaatgattgggga
gctcttattctagtggatgatcgctttaggaataacccaagtcgctatatatctggactt
tctaaatgggtacggcagcagattcagcaccattcaacctttgaaagtgcactggaatcc
ttggctgaattttccaaaaagcatcaaaaagttcttaatgtatccataaaggacagaacc
aatatacaggacaatgagtctacacttgaagtgacctctttaaagtacagtacctcacct
tatttactggaagcagcaagtcatctatcaccagaaaattttgtggaagatgaagcaaag
atatgtgtccaggaactacagtgtcctaaaattattaccaaaaattcacctctaccaagt
agcattatctccagaaaggagaaaaatgatccagtattcctggaagaagcagggaaagca
gaaaaaattgtgatttccagatccacaagcccaactttcaacaaacaaacaaagagagtt
agctggtcaagctttaattctttgggacagtattttactggtaaaataccgaaggcaaca
cctgagctcgggtcatcagagaatagtgcctctagtcctccccgtttcaaaacagagaag
atggaaagtaaaactgttttgcccttcactgataaatgtgaatcctcaaatctgacagta
aacacatcgtttggatcatgccctcaatcagaaaccattatttcatcattaaagattgat
gccacccttactagaaaaaatcattctgaacatccgctctgttctgaagaagccctggat
ccagacattgaattgtctctagtaagtgaagaagataaacagtccacttcaaatagagat
tttgaaacagaagcagaagatgaatctatctattttacacctgaactttatgatcctgaa
gatacagatgaagaaaaaaatgacctagctgaaactgatagaggaaatagattggctaac
aattcagattgcattttagctaaagacctttttgaaattagaactataaaagaagtagat
tcagccagagaagtgaaagctgaggattgcatagatacaaagttgaatggaattctgcat
attgaagaaagtaaaattgatgacattgatggtaatgtaaaaacaacttggataaatgaa
ctggaactgggaaaaactcatgaaatagaaataaagaactttaaaccatctccttccaaa
aataaaggcatgtttcctggttttaagtaa

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