KEGG   Homo sapiens (human): 2178
Entry
2178              CDS       T01001                                 
Symbol
FANCE, FACE, FAE
Name
(RefSeq) FA complementation group E
  KO
K10892  fanconi anemia group E protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa03460  Fanconi anemia pathway
Network
nt06508  Interstrand crosslink repair
  Element
N01464  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
UniProt: Q9HB96
Structure
Position
6:35452338..35467102
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (20)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (18)   
DNA sequence (26)   
   RefSeq(nuc) (18)   
   GenBank (4)   
   EMBL (4)   
3D Structure (7)   
   PDB (7)   
Protein domain (1)   
   Pfam (1)   
All databases (75)   

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