KEGG   Homo sapiens (human): 55120
Entry
55120             CDS       T01001                                 

Symbol
FANCL, FAAP43, PHF9, POG
Name
(RefSeq) FA complementation group L
  KO
K10606  E3 ubiquitin-protein ligase FANCL [EC:2.3.2.27]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03460  Fanconi anemia pathway
hsa04120  Ubiquitin mediated proteolysis
Disease
H00238  Fanconi anemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    55120 (FANCL)
  09124 Replication and repair
   03460 Fanconi anemia pathway
    55120 (FANCL)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    55120 (FANCL)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    55120 (FANCL)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.27  RING-type E3 ubiquitin transferase
     55120 (FANCL)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Single Ring-finger type E3
   Other single Ring-finger type E3
    55120 (FANCL)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   FA (Fanconi anemia) pathway
    FA core complex
     55120 (FANCL)
SSDB
Motif
Pfam: FANCL_d3 FANCL_C FANCL_d1 FANCL_d2 zf-RING_2 zf-rbx1 zf-HC5HC2H zf-ANAPC11 HECW_N
Other DBs
NCBI-GeneID: 55120
NCBI-ProteinID: NP_060532
OMIM: 608111
HGNC: 20748
Ensembl: ENSG00000115392
Vega: OTTHUMG00000129349
Pharos: Q9NW38(Tbio)
UniProt: Q9NW38
Structure
PDB: 
3ZQS 4CCG

Position
2p16.1
AA seq 375 aa
MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLR
TILSGYHRIVQQRMQHSPDLMSFMMELKMLLEVALKNRQELYALPPPPQFYSSLIEEIGT
LGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPAESPDYFVDFPVPFCASWTPQ
SSLISIYSQFLAAIESLKAFWDVMDEIDEKTWVLEPEKPPRSATARRIALGNNVSINIEV
DPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPARAILEK
SDFTMDCGICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECP
YCSKPITLKMSGRKH
NT seq 1128 nt   +upstreamnt  +downstreamnt
atggcggtgacggaagcgagcctgttgcgccagtgccccctgcttctgccccagaaccgg
tcgaaaaccgtgtatgagggattcatctcggctcagggaagagacttccaccttaggata
gtgttgcctgaagatttacaactgaagaatgcaagattattatgtagttggcagctgaga
acaatacttagtggataccatcgaatagtacaacagagaatgcagcactctcctgatcta
atgagctttatgatggagttgaagatgcttttggaagttgccttaaagaatagacaagag
ctgtatgcactacctcctcctccccagttctactcaagccttattgaagagataggaact
cttggttgggataaacttgtgtatgcggatacctgcttcagtaccatcaagttaaaagca
gaagatgcttctggtagagagcatttaatcactctcaagttgaaggcaaagtatcctgca
gaatcaccagattattttgtggattttcctgttccattttgtgcctcctggacacctcag
agctccttaataagcatttatagtcagtttttggcagcaatagaatcactaaaggcattc
tgggatgttatggatgaaatcgatgagaagacctgggtacttgagccagaaaaacctcca
cggagtgcaacagcacgcagaattgcattaggtaataatgtttccataaatatagaggta
gaccccaggcatcctactatgcttcctgagtgcttctttcttggagctgaccatgtggta
aaacccctgggaattaagctgagcaggaacatacatttgtgggatccagaaaatagtgtg
ttacaaaatttgaaagatgttttagaaattgattttccagctcgtgctatcctggaaaaa
tctgattttactatggattgtggaatttgttatgcttatcaacttgacggtaccattcct
gatcaagtgtgtgataattctcagtgtggacaacctttccatcaaatatgcttatatgag
tggctgagaggactactaactagtagacagagttttaacatcatatttggtgaatgtcca
tattgtagtaagccaattaccttaaaaatgtctggaaggaaacactga

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