KEGG   Homo sapiens (human): 2178
Entry
2178              CDS       T01001                                 

Gene name
FANCE, FACE, FAE
Definition
(RefSeq) FA complementation group E
  KO
K10892  fanconi anemia group E protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa03460  Fanconi anemia pathway
Disease
H00238  Fanconi anemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03460 Fanconi anemia pathway
    2178 (FANCE)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    2178 (FANCE)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   FA (Fanconi anemia) pathway
    FA core complex
     2178 (FANCE)
SSDB
Motif
Pfam: FA_FANCE
Other DBs
NCBI-GeneID: 2178
NCBI-ProteinID: NP_068741
OMIM: 613976
HGNC: 3586
Ensembl: ENSG00000112039
Vega: OTTHUMG00000014565
Pharos: Q9HB96(Tbio)
UniProt: Q9HB96
Structure
PDB: 
2ILR

Position
6p21.31
AA seq 536 aa
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDW
GRLLEALCREEPVVQGPDGRLELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQI
AQQDLAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERCQRQLQSLCRGLGLGGRRLKS
PQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLE
SLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEE
GLEGLEDAPPVELQLLHECSPSQMDLLCAQLQLPQLSDLGLLRLCTWLLALSPDLSLSNA
TVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTELL
CCLVKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQVEMTPEKFSVLMEKLCKKG
LAATTSMAYAKLMLTVMTKYQANITETQRLGLAMALEPNTTFLRKSLKAALKHLGP
NT seq 1611 nt   +upstreamnt  +downstreamnt
atggcgacaccggacgcggggctccctggggctgagggcgtggagccggcgccctgggcg
cagctggaggcccccgcccgcctcctgctgcaggcgctgcaggcggggcctgagggggcg
cggcgcggcctgggggtgctccgggcgctgggcagccgcggctgggagcccttcgactgg
ggtcgcttgctcgaggccctgtgccgggaggagccggtcgtgcaggggcctgacggccgt
ctggagctgaaaccactgttgctgcgattgccccggatatgccagaggaacctgatgtcc
ctgctgatggccgttcggccatcgctgccggaaagtgggctcctctctgtgctgcagatt
gcccagcaggacctagcccctgacccagatgcctggctccgtgccctgggggaattgctg
cgaagggatttgggggtggggacctccatggagggagcttctccactgtctgaaagatgc
cagagacagctccaaagtctatgtagggggctgggcctggggggcaggaggttgaaatcc
ccccaggctccagaccctgaagaagaggagaacagggactcccagcagcctgggaaacgc
agaaaggactcagaggaagaggctgccagtcctgaggggaagagggtccccaaaagatta
cggtgttgggaagaggaagaagatcatgagaaggagagacccgaacataagtcactggaa
tccctggcagatggaggaagtgcatctcctattaaggaccagcctgtcatggcagttaag
actggcgaggacggttcgaatctggatgatgctaaaggtctggctgagagtttggagttg
cccaaagctatccaggaccagcttcccaggctgcagcagctgctgaagaccttggaggag
gggttagagggattggaggatgcccccccagttgagctacagcttcttcacgaatgtagt
cccagccagatggacttgctgtgtgcccagctgcagctccctcagctctcagacctcggt
ctcctgcggctctgcacctggctgctggccctttcacctgatctcagcctcagcaatgct
actgtgctgaccagaagcctctttcttggacggatcctctccttgacttcctcagcctcc
cgcctgcttacaactgccctgacctccttctgtgccaaatatacataccctgtctgcagc
gccctccttgaccctgtgctccaggccccaggcacaggtcctgctcaaacagagttactg
tgttgccttgtgaagatggagtccctggagccagatgcacaggttctaatgctgggacag
atcttggagctgccctggaaggaggaaactttcttggtgttgcagtcactcctagagcgg
caggtggagatgacccctgagaagttcagtgtcttaatggagaagctctgtaaaaagggg
ctggcagccaccacctccatggcctatgccaagctcatgctgacagtgatgaccaagtat
caggctaacatcactgagacccagaggctgggcctggctatggccctagaacctaacacc
accttcctgaggaagtccctgaaggccgccttgaaacatttgggcccctga

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