KEGG   Homo sapiens (human): 57599
Entry
57599             CDS       T01001                                 
Symbol
WDR48, Bun62, P80, SPG60, UAF1
Name
(RefSeq) WD repeat domain 48
  KO
K15361  WD repeat-containing protein 48
Organism
hsa  Homo sapiens (human)
Pathway
hsa03460  Fanconi anemia pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03460 Fanconi anemia pathway
    57599 (WDR48)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    57599 (WDR48)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   FA (Fanconi anemia) pathway
    Other FA pathway factors
     57599 (WDR48)
SSDB
Motif
Pfam: WD40_Prp19 Ubl_WDR48-Bun107 Beta-prop_WDR5 Beta-prop_WDR3_1st WD40 Beta-prop_THOC3 Beta-prop_IFT122_1st Beta-prop_WDR3_2nd WD40_CDC20-Fz WD40_WDHD1_1st WDR55 Beta-prop_CAF1B_HIR1 Beta-prop_TEP1_2nd Beta-prop_EML_2 EIF3I Beta-prop_EML WD40_MABP1-WDR62_2nd Beta-prop_WDR75_1st Beta-prop_WDR36-Utp21_2nd WD40_Gbeta DSE1_N Beta-prop_TEP1_C Beta-prop_WDR90_POC16_2nd NBCH_WD40 Beta-prop_SPT8 Beta-prop_WDR41 Beta-prop_WDR36-Utp21_1st Beta-prop_SCAP Beta-prop_EIPR1 Beta-prop_Aladin Beta-prop_DCAF12 WD40_MABP1-WDR62_1st ANAPC4_WD40 ASA1 WDR90_beta-prop_4th Beta-prop_RIG_2nd Beta-prop_NOL10_N TRM82_WD CFAP251_N Beta-prop_IP5PC_F WDR54 Beta-prop_DCAF4 WD_LRWD1 Beta-prop_Vps41 WD40_RFWD3 Beta-prop_VPS8 PAC11 Beta-prop_ACSF4 SHKBP1_KCTD3_C WD40_like RAWUL Nucleoporin_N Tfb2_C C10orf126
Other DBs
NCBI-GeneID: 57599
NCBI-ProteinID: NP_065890
OMIM: 612167
HGNC: 30914
Ensembl: ENSG00000114742
UniProt: Q8TAF3 A0A024R2L1
Structure
LinkDB
Position
3:39052016..39096664
AA seq 677 aa
MAAHHRQNTAGRRKVQVSYVIRDEVEKYNRNGVNALQLDPALNRLFTAGRDSIIRIWSVN
QHKQDPYIASMEHHTDWVNDIVLCCNGKTLISASSDTTVKVWNAHKGFCMSTLRTHKDYV
KALAYAKDKELVASAGLDRQIFLWDVNTLTALTASNNTVTTSSLSGNKDSIYSLAMNQLG
TIIVSGSTEKVLRVWDPRTCAKLMKLKGHTDNVKALLLNRDGTQCLSGSSDGTIRLWSLG
QQRCIATYRVHDEGVWALQVNDAFTHVYSGGRDRKIYCTDLRNPDIRVLICEEKAPVLKM
ELDRSADPPPAIWVATTKSTVNKWTLKGIHNFRASGDYDNDCTNPITPLCTQPDQVIKGG
ASIIQCHILNDKRHILTKDTNNNVAYWDVLKACKVEDLGKVDFEDEIKKRFKMVYVPNWF
SVDLKTGMLTITLDESDCFAAWVSAKDAGFSSPDGSDPKLNLGGLLLQALLEYWPRTHVN
PMDEEENEVNHVNGEQENRVQKGNGYFQVPPHTPVIFGEAGGRTLFRLLCRDSGGETESM
LLNETVPQWVIDITVDKNMPKFNKIPFYLQPHASSGAKTLKKDRLSASDMLQVRKVMEHV
YEKIINLDNESQTTSSSNNEKPGEQEKEEDIAVLAEEKIELLCQDQVLDPNMDLRTVKHF
IWKSGGDLTLHYRQKST
NT seq 2034 nt   +upstreamnt  +downstreamnt
atggcggcccatcaccggcagaacacagcagggcggaggaaagtgcaggtttcctatgtt
attcgagatgaagtggagaagtacaaccgaaatggagtcaatgctctgcagctggatcca
gcactaaatagacttttcacagccggtcgagactctatcataagaatatggagtgtcaat
cagcacaagcaagatccatatatagcatctatggaacaccatactgattgggtaaacgac
attgtactctgttgtaatgggaaaacattaatatctgcttcttctgacacgacagtaaaa
gtatggaatgcacacaagggattttgcatgtcaacattaaggacacataaggattacgta
aaggccttagcatatgccaaggataaagaactagtagcatcagctgggttggacagacaa
atattcctttgggatgtgaatactctaacagcattgactgcctcaaataacactgtcaca
acttcttctttaagtggaaacaaagattccatttatagcctggccatgaatcaactggga
acaatcattgtatcagggtccactgaaaaggtgttacgggtatgggatccaagaacatgt
gcaaaactaatgaagcttaaagggcacacggataatgtgaaggcattgctattaaacaga
gatggcacgcaatgcctgtcaggcagttctgatgggacaattcgcctttggtcccttggc
cagcagagatgtatagcaacataccgagtccatgatgaaggtgtttgggcgctgcaagtc
aatgatgccttcacacatgtgtattctggtggaagggacaggaagatttattgtacagac
ctaagaaaccctgacattcgggtgctaatttgtgaagaaaaagcaccagttctcaagatg
gagcttgatagatcagctgatcctcctcctgcaatttgggttgcaacaactaagtctaca
gtaaataaatggactttgaaaggaattcataattttagagcctctggagattatgacaat
gactgtacaaatcctataacacctctttgtacacaacctgaccaggttattaaagggggt
gctagtattattcagtgccacattcttaatgataagagacatatattaaccaaagatacc
aataataatgtggcatattgggatgtattgaaggcatgtaaagttgaagatctgggcaaa
gtggattttgaagatgaaattaagaaaagatttaaaatggtgtatgtgccaaattggttc
tcagtagacttaaaaacagggatgttaactattactttggatgaaagtgattgttttgct
gcctgggtttctgcaaaagatgctggtttcagcagccctgatgggtcagatccaaaattg
aatttaggaggacttttactccaagcactcctggaatattggcctagaacacatgtgaat
ccaatggatgaagaggaaaatgaagtaaaccatgtaaatggggagcaggagaaccgagtg
cagaagggaaatggatattttcaagtgcccccacatacacccgtgatctttggtgaagct
ggaggtcgcacactgttcaggctgctctgccgagattccgggggtgagactgagtctatg
cttcttaatgaaacagtgccacaatgggtaattgacatcactgtggataaaaatatgccc
aaattcaacaaaattcctttctacctccaacctcatgcatcttcaggagcaaaaacctta
aaaaaagatagactctctgctagtgacatgctccaagtccgaaaagttatggaacatgtt
tatgaaaaaattatcaacttggataatgagtctcaaaccactagctcttctaataatgaa
aaaccaggagaacaggaaaaagaagaagatattgctgtgttggcagaggagaaaattgaa
cttttgtgccaggaccaggttttggatccaaatatggaccttcgaacagtgaaacacttc
atatggaagagcggtggagacctcaccctccattaccgtcagaagtccacgtga

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