KEGG   Homo sapiens (human): 2175
Entry
2175              CDS       T01001                                 

Gene name
FANCA, FA, FA-H, FA1, FAA, FACA, FAH, FANCH
Definition
(RefSeq) FA complementation group A
  KO
K10888  fanconi anemia group A 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
    2175 (FANCA)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    2175 (FANCA)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   FA (Fanconi anemia) pathway
    FA core complex
     2175 (FANCA)
SSDB
Motif
Pfam: Fanconi_A_N Fanconi_A
Other DBs
NCBI-GeneID: 2175
NCBI-ProteinID: NP_000126
OMIM: 607139
HGNC: 3582
Ensembl: ENSG00000187741
Vega: OTTHUMG00000173049
Pharos: O15360(Tbio)
UniProt: O15360
LinkDB
Position
16q24.3
AA seq 1455 aa
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNAL
LLEVEGPLCKKLSLSKVIDCDSSEAYANHSSSFIGSALQDQASRLGVPVGILSAGMVASS
VGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQSSLLLE
AVWHLHVQGIVSLQELLESHPDMHAVGSWLFRNLCCLCEQMEASCQHADVARAMLSDFVQ
MFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIFALDALAAGVQEESSTHKIVRCWFG
VFSGHTLGSVISTDPLKRFFSHTLTQILTHSPVLKASDAVQMQREWSFARTHPLLTSLYR
RLFVMLSAEELVGHLQEVLETQEVHWQRVLSFVSALVVCFPEAQQLLEDWVARLMAQAFE
SCQLDSMVTAFLVVRQAALEGPSAFLSYADWFKASFGSTRGYHGCSKKALVFLFTFLSEL
VPFESPRYLQVHILHPPLVPGKYRSLLTDYISLAKTRLADLKVSIENMGLYEDLSSAGDI
TEPHSQALQDVEKAIMVFEHTGNIPVTVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSR
VAFIESLKRADKIPPSLYSTYCQACSAAEEKPEDAALGVRAEPNSAEEPLGQLTAALGEL
RASMTDPSQRDVISAQVAVISERLRAVLGHNEDDSSVEISKIQLSINTPRLEPREHMAVD
LLLTSFCQNLMAASSVAPPERQGPWAALFVRTMCGRVLPAVLTRLCQLLRHQGPSLSAPH
VLGLAALAVHLGESRSALPEVDVGPPAPGAGLPVPALFDSLLTCRTRDSLFFCLKFCTAA
ISYSLCKFSSQSRDTLCSCLSPGLIKKFQFLMFRLFSEARQPLSEEDVASLSWRPLHLPS
ADWQRAALSLWTHRTFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTERQDFHQWAIH
EHFLPESSASGGCDGDLQAACTILVNALMDFHQSSRSYDHSENSDLVFGGRTGNEDIISR
LQEMVADLELQQDLIVPLGHTPSQEHFLFEIFRRRLQALTSGWSVAASLQRQRELLMYKR
ILLRLPSSVLCGSSFQAEQPITARCEQFFHLVNSEMRNFCSHGGALTQDITAHFFRGLLN
ACLRSRDPSLMVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKL
QEGRQFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLDCEREELLVFL
FFFSLMGLLSSHLTSNSTTDLPKAFHVCAAILECLEKRKISWLALFQLTESDLRLGRLLL
RVAPDQHTRLLPFAFYSLLSYFHEDAAIREEAFLHVAVDMYLKLVQLFVAGDTSTVSPPA
GRSLELKGQGNPVELITKARLFLLQLIPRCPKKSFSHVAELLADRGDCDPEVSAALQSRQ
QAAPDADLSQEPHLF
NT seq 4368 nt   +upstreamnt  +downstreamnt
atgtccgactcgtgggtcccgaactccgcctcgggccaggacccagggggccgccggagg
gcctgggccgagctgctggcgggaagggtcaagagggaaaaatataatcctgaaagggca
cagaaattaaaggaatcagctgtgcgcctcctgcgaagccatcaggacctgaatgccctt
ttgcttgaggtagaaggtccactgtgtaaaaaattgtctctcagcaaagtgattgactgt
gacagttctgaggcctatgctaatcattctagttcatttataggctctgctttgcaggat
caagcctcaaggctgggggttcccgtgggtattctctcagccgggatggttgcctctagc
gtgggacagatctgcacggctccagcggagaccagtcaccctgtgctgctgactgtggag
cagagaaagaagctgtcttccctgttagagtttgctcagtatttattggcacacagtatg
ttctcccgtctttccttctgtcaagaattatggaaaatacagagttctttgttgcttgaa
gcggtgtggcatcttcacgtacaaggcattgtgagcctgcaagagctgctggaaagccat
cccgacatgcatgctgtgggatcgtggctcttcaggaatctgtgctgcctttgtgaacag
atggaagcatcctgccagcatgctgacgtcgccagggccatgctttctgattttgttcaa
atgtttgttttgaggggatttcagaaaaactcagatctgagaagaactgtggagcctgaa
aaaatgccgcaggtcacggttgatgtactgcagagaatgctgatttttgcacttgacgct
ttggctgctggagtacaggaggagtcctccactcacaagatcgtgaggtgctggttcgga
gtgttcagtggacacacgcttggcagtgtaatttccacagatcctctgaagaggttcttc
agtcataccctgactcagatactcactcacagccctgtgctgaaagcatctgatgctgtt
cagatgcagagagagtggagctttgcgcggacacaccctctgctcacctcactgtaccgc
aggctctttgtgatgctgagtgcagaggagttggttggccatttgcaagaagttctggaa
acgcaggaggttcactggcagagagtgctctcctttgtgtctgccctggttgtctgcttt
ccagaagcgcagcagctgcttgaagactgggtggcgcgtttgatggcccaggcattcgag
agctgccagctggacagcatggtcactgcgttcctggttgtgcgccaggcagcactggag
ggcccctctgcgttcctgtcatatgcagactggttcaaggcctcctttgggagcacacga
ggctaccatggctgcagcaagaaggccctggtcttcctgtttacgttcttgtcagaactc
gtgccttttgagtctccccggtacctgcaggtgcacattctccacccacccctggttccc
ggcaagtaccgctccctcctcacagactacatctcattggccaagacacggctggccgac
ctcaaggtttctatagaaaacatgggactctacgaggatttgtcatcagctggggacatt
actgagccccacagccaagctcttcaggatgttgaaaaggccatcatggtgtttgagcat
acggggaacatcccagtcaccgtcatggaggccagcatattcaggaggccttactacgtg
tcccacttcctccccgccctgctcacacctcgagtgctccccaaagtccctgactcccgt
gtggcgtttatagagtctctgaagagagcagataaaatccccccatctctgtactccacc
tactgccaggcctgctctgctgctgaagagaagccagaagatgcagccctgggagtgagg
gcagaacccaactctgctgaggagcccctgggacagctcacagctgcactgggagagctg
agagcctccatgacagaccccagccagcgtgatgttatatcggcacaggtggcagtgatt
tctgaaagactgagggctgtcctgggccacaatgaggatgacagcagcgttgagatatca
aagattcagctcagcatcaacacgccgagactggagccacgggaacacatggctgtggac
ctcctgctgacgtctttctgtcagaacctgatggctgcctccagtgtcgctcccccggag
aggcagggtccctgggctgccctcttcgtgaggaccatgtgtggacgtgtgctccctgca
gtgctcacccggctctgccagctgctccgtcaccagggcccgagcctgagtgccccacat
gtgctggggttggctgccctggccgtgcacctgggtgagtccaggtctgcgctcccagag
gtggatgtgggtcctcctgcacctggtgctggccttcctgtccctgcgctctttgacagc
ctcctgacctgtaggacgagggattccttgttcttctgcctgaaattttgtacagcagca
atttcttactctctctgcaagttttcttcccagtcacgagatactttgtgcagctgctta
tctccaggccttattaaaaagtttcagttcctcatgttcagattgttctcagaggcccga
cagcctctttctgaggaggacgtagccagcctttcctggagacccttgcaccttccttct
gcagactggcagagagctgccctctctctctggacacacagaaccttccgagaggtgttg
aaagaggaagatgttcacttaacttaccaagactggttacacctggagctggaaattcaa
cctgaagctgatgctctttcagatactgaacggcaggacttccaccagtgggcgatccat
gagcactttctccctgagtcctcggcttcagggggctgtgacggagacctgcaggctgcg
tgtaccattcttgtcaacgcactgatggatttccaccaaagctcaaggagttatgaccac
tcagaaaattctgatttggtctttggtggccgcacaggaaatgaggatattatttccaga
ttgcaggagatggtagctgacctggagctgcagcaagacctcatagtgcctctcggccac
accccttcccaggagcacttcctctttgagattttccgcagacggctccaggctctgaca
agcgggtggagcgtggctgccagccttcagagacagagggagctgctaatgtacaaacgg
atcctcctccgcctgccttcgtctgtcctctgcggcagcagcttccaggcagaacagccc
atcactgccagatgcgagcagttcttccacttggtcaactctgagatgagaaacttctgc
tcccacggaggtgccctgacacaggacatcactgcccacttcttcaggggcctcctgaac
gcctgtctgcggagcagagacccctccctgatggtcgacttcatactggccaagtgccag
acgaaatgccccttaattttgacctctgctctggtgtggtggccgagcctggagcctgtg
ctgctctgccggtggaggagacactgccagagcccgctgccccgggaactgcagaagcta
caagaaggccggcagtttgccagcgatttcctctcccctgaggctgcctccccagcaccc
aacccggactggctctcagctgctgcactgcactttgcgattcaacaagtcagggaagaa
aacatcaggaagcagctaaagaagctggactgcgagagagaggagctattggttttcctt
ttcttcttctccttgatgggcctgctgtcgtcacatctgacctcaaatagcaccacagac
ctgccaaaggctttccacgtttgtgcagcaatcctcgagtgtttagagaagaggaagata
tcctggctggcactctttcagttgacagagagtgacctcaggctggggcggctcctcctc
cgtgtggccccggatcagcacaccaggctgctgcctttcgctttttacagtcttctctcc
tacttccatgaagacgcggccatcagggaagaggccttcctgcatgttgctgtggacatg
tacttgaagctggtccagctcttcgtggctggggatacaagcacagtttcacctccagct
ggcaggagcctggagctcaagggtcagggcaaccccgtggaactgataacaaaagctcgt
ctttttctgctgcagttaatacctcggtgcccgaaaaagagcttctcacacgtggcagag
ctgctggctgatcgtggggactgcgacccagaggtgagcgccgccctccagagcagacag
caggctgcccctgacgctgacctgtcccaggagcctcatctcttctga

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