Homo sapiens (human): 54919
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Entry
54919 CDS
T01001
Symbol
DNAAF5, CILD18, HEATR2
Name
(RefSeq) dynein axonemal assembly factor 5
KO
K19759
dynein axonemal assembly factor 5
Organism
hsa
Homo sapiens (human)
Disease
H00564
Primary ciliary dyskinesia
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
54919 (DNAAF5)
04812 Cytoskeleton proteins [BR:
hsa04812
]
54919 (DNAAF5)
Cilium and associated proteins [BR:
hsa03037
]
Motile cilia and associated proteins
Dynein assembly factors
54919 (DNAAF5)
Cytoskeleton proteins [BR:
hsa04812
]
Eukaryotic cytoskeleton proteins
Microtubules
Tubulin-binding proteins
Dyneins
Dynein-related proteins
54919 (DNAAF5)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
HEAT_DAAF5
HEAT
HEAT_EZ
TOR1L1_N
HEAT_ECM29
HEAT_2
Cnd1
PDS5
Vac14_Fab1_bd
IFRD
CLASP_N
DUF5789
Motif
Other DBs
NCBI-GeneID:
54919
NCBI-ProteinID:
NP_060272
OMIM:
614864
HGNC:
26013
Ensembl:
ENSG00000164818
UniProt:
Q86Y56
B3KPE2
LinkDB
All DBs
Position
7:726699..786475
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AA seq
855 aa
AA seq
DB search
MAALGVAEAVAAPHPAEGAETAEAVELSRALSRLLPGLEADSKPGRRRALEALRRALEEP
GPAADPTAFQGPWARLLLPRLLRCLSDPAEGCRALAVHLLDLGLRRAARPRDALPRLLPA
LAARLAGPVPARRPPEACEELRLALVQLLGLAVDLCGAALAPHLDDALRALRCSLLDPFA
AVRRESCSCAAALAQATPDHFHMQSESLIGPLMQTISHQHWKVRVAAIEATGAVIHFGNG
KSVDDVLSHFAQRLFDDVPQVRRAVASVVGGWLLCLRDRYSFFHKLIPLLLSSLNDEVPE
VRQLAASLWEDVGLQWQKENEEDLKDKLDFAPPTPPHYPPHERRPVLGCRELVFRNLSKI
LPALCHDITDWVVGTRVKSAQLLPVLLLHAEDHATQHLEVVLRTLFQACTDEEAAVVQSC
TRSAELVGTFVSPEVFLKLILSTLKKTPSASGLLVLASAMRGCPREALQPHLAAIATELA
QAHICQASENDLYLERLLLCVQALVSVCHEDCGVASLQLLDVLLTIVALAGATGLRDKAQ
ETMDSLAMVEGVSSCQDLYRKHIGPLLERVTASHLDWTAHSPELLQFSVIVAQSGPALGE
ALPHVVPTLRACLQPSQDPQMRLKLFSILSTVLLRATDTINSQGQFPSYLETVTKDILAP
NLQWHAGRTAAAIRTAAVSCLWALTSSEVLSAEQIRDVQETLMPQVLTTLEEDSKMTRLI
SCRIINTFLKTSGGMTDPEKLIRIYPELLKRLDDVSNDVRMAAASTLVTWLQCVKGANAK
SYYQSSVQYLYRELLVHLDDPERAIQDAILEVLKEGSGLFPDLLVRETEAVIHKHRSATY
CEQLLQHVQAVPATQ
NT seq
2568 nt
NT seq
+upstream
nt +downstream
nt
atggcggcgctgggggtggcggaggccgtggcggccccacacccggctgagggggccgag
acggctgaggcggtggagctgagccgcgccctgagccgcctgctgccggggctggaggcc
gacagcaagccgggccggcggcgcgccttggaggccctgcggcgcgcgctggaggagcca
ggccctgccgccgaccccaccgctttccagggcccctgggcgcgcctactgctgccgcgc
ttgctgcgctgcctgagcgaccccgccgagggctgccgcgcgctggcagtgcacctgctg
gatctgggcctgcgccgcgccgcgcggccccgcgatgccctgccgcgcctgctgcccgcg
ctcgccgcgcgcttggccggccccgtgcccgcgcgccgcccgcccgaggcctgtgaggag
ctgcgcctggcgcttgtgcagctgctgggcctggccgtggacctgtgcggcgccgcgctc
gcgccccacctggacgacgctctgcgcgcgctgcgctgctccctgctcgaccccttcgcc
gccgtgcgccgcgagagctgcagctgcgccgccgccctggcgcaggccacgcccgaccac
ttccacatgcagtcggagtctctgatcgggcccctgatgcagaccatctcccaccagcac
tggaaggtccgtgtggccgccattgaagccacaggcgcagtgatccattttggcaacggg
aagtccgtggacgacgtgctttcccattttgctcagcgactgtttgatgacgtcccgcag
gtccggcgggcggtggcctccgtggtgggcggctggctgctgtgtctgcgtgaccgttac
tccttcttccacaagctcatccctctgctgctcagtagcctcaacgacgaggtgcctgag
gtcaggcagctggctgccagcctctgggaggacgttggcctgcagtggcagaaggagaat
gaggaggacctgaaggacaagctggactttgcccctcccaccccaccccattaccctcca
catgagcgccgccctgtgctgggctgccgggagctcgtcttcaggaacctctccaagatc
ctccctgccctgtgccacgacatcaccgactgggtggtggggacccgagtgaagtcggca
cagctgctcccagtgctgctgctgcatgccgaggaccacgccacgcagcacctggaggtc
gtcctccggaccctgttccaggcctgcaccgacgaggaggcagccgtggtccaaagttgt
accagatccgcagagctcgtcgggacgtttgtcagccctgaggtgtttctgaagctgatc
ttatcgacgctgaagaagacgccctctgcctccggcctcctggtgctggcctccgccatg
cggggttgcccccgagaagccctccagccgcacctggcagccatcgccacagagctggca
caggcccacatctgccaggcatctgaaaacgacctctacctggagcgcctgctgctgtgt
gtgcaggctctggtgtctgtgtgtcatgaggactgtggcgtggccagcctgcagctcttg
gacgtgctgctgacaatagtggccctcgcaggtgctaccggcctgagggacaaggcacag
gagacgatggactcactggccatggtggagggtgtcagcagctgccaggacctctaccgc
aagcacattggtcccctcctggagcgggtgaccgcgtcgcaccttgactggaccgcacac
tcgccggagctcctgcagttcagtgtcatcgtcgcacagtcaggccctgccctgggagaa
gccctgccacacgtcgtgcccacgctgagggcctgtctgcagccctcccaagacccgcag
atgcgcctgaagctgttctccatcctgtccaccgtgctgctcagagccacggacaccatc
aactcccaggggcagtttcccagctacctcgagacggtgacaaaggacatcctggccccc
aatctgcagtggcatgcggggaggacagccgcggccatccgcacggctgccgtgtcctgc
ctctgggcgctcaccagcagcgaggtcctgtcggcagagcagatacgggacgtgcaggaa
acactgatgccccaggtcctgaccaccctggaggaggattcgaagatgacgcgactgatc
tcatgccgtattatcaacacgttcttaaaaacctcgggcggcatgacggatccagagaaa
ctcatcaggatttatcctgaactcttaaaacgcctagatgacgtgtccaacgatgtgagg
atggcagccgcctccaccttggtcacctggctgcagtgtgtcaagggtgccaacgcaaaa
tcctactatcagagcagtgtccagtacctgtaccgagagttgctggttcaccttgacgat
ccagagagggccatccaggatgcaattttagaggtcctcaaagagggcagcgggctgttc
ccagatctcctggtgagggagacggaggccgtcatccacaagcaccgctcggccacctac
tgcgagcagctcctgcagcatgtgcaggccgtgccagccacacagtga
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