KEGG   Homo sapiens (human): 57599
Entry
57599             CDS       T01001                                 

Gene name
WDR48, P80, SPG60, UAF1
Definition
(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: DUF3337 WD40 ANAPC4_WD40 Nucleoporin_N WD40_like RAWUL
Other DBs
NCBI-GeneID: 57599
NCBI-ProteinID: NP_065890
OMIM: 612167
HGNC: 30914
Ensembl: ENSG00000114742
Vega: OTTHUMG00000155972
Pharos: Q8TAF3(Tbio)
UniProt: Q8TAF3 A0A024R2L1
Structure
PDB: 

Position
3p22.2
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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