KEGG   Homo sapiens (human): 83990
Entry
83990             CDS       T01001                                 

Gene name
BRIP1, BACH1, FANCJ, OF
Definition
(RefSeq) BRCA1 interacting helicase 1
  KO
K15362  fanconi anemia group J protein [EC:3.6.4.12]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03440  Homologous recombination
hsa03460  Fanconi anemia pathway
Disease
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]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.4  Acting on acid anhydrides to facilitate cellular and subcellular movement
    3.6.4.12  DNA 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 SNF2_N HBB
Other DBs
NCBI-GeneID: 83990
NCBI-ProteinID: NP_114432
OMIM: 605882
HGNC: 20473
Ensembl: ENSG00000136492
Vega: OTTHUMG00000179233
Pharos: Q9BX63(Tbio)
UniProt: Q9BX63
LinkDB
Position
17q23.2
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

DBGET integrated database retrieval system