KEGG   Homo sapiens (human): 123872
Entry
123872            CDS       T01001                                 
Symbol
DNAAF1, CILD13, DAU1, LRRC50, ODA7, swt
Name
(RefSeq) dynein axonemal assembly factor 1 isoform 1
  KO
K19750  dynein axonemal assembly factor 1
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]
    123872 (DNAAF1)
   04812 Cytoskeleton proteins [BR:hsa04812]
    123872 (DNAAF1)
Cilium and associated proteins [BR:hsa03037]
 Motile cilia and associated proteins
  Dynein assembly factors
   123872 (DNAAF1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Dyneins
     Dynein-related proteins
      123872 (DNAAF1)
SSDB
Motif
Pfam: LRR_4 LRR_9 LRR_8 LRR_14 DUF5580_M
Other DBs
NCBI-GeneID: 123872
NCBI-ProteinID: NP_848547
OMIM: 613190
HGNC: 30539
Ensembl: ENSP00000367815.5
UniProt: Q8NEP3 A0A140VJN4
Position
16:84145308..84177920
AA seq 725 aa
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHS
QQKQSGDNGSGGHFAHPREDREDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFD
RIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQMNLLRKIENLEPLQKLDALNL
SNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYA
AEKEERQQWESRERKKITDSIEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAE
GKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAET
LLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLSPPVK
VKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLE
TKETFCIDDLPDLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPT
DTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLL
MPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGVAQPSQALPTWDLTAFP
APKAS
NT seq 2178 nt   +upstreamnt  +downstreamnt
atgcaccctgagccctcggagcctgcgacaggtggtgcagcagagctggattgcgcgcag
gagcccggcgtggaggagtctgcgggtgaccacgggagcgcaggccgagggggctgcaag
gaagaaattaatgatcctaaggaaatatgtgtgggttcttctgacacatcctaccacagc
cagcagaaacagagtggtgataatgggtcaggtggtcacttcgcacacccaagagaagac
agggaagatcggggccccagaatgactaaaagttccctgcaaaaactctgcaagcagcac
aagctttatattaccccagcattgaatgatacgctgtatttacactttaaaggttttgat
cgcattgagaacctggaagagtacacagggctgcgctgtctctggctgcagagcaatgga
atacagaaaatcgaaaacctggaggcccaaactgagttgcgttgcctcttcttgcaaatg
aacttgctccgtaaaattgagaacctggaacctctgcagaaactggatgctcttaacctc
agcaacaattacatcaagaccattgaaaacctctcctgcctcccagtcctgaacacattg
cagatggcccacaatcacctggagaccgtggaggacattcagcatctacaagagtgtttg
aggctttgtgtccttgacctttcgcacaacaagctgagtgacccggagatcctgagcatt
ctggaaagcatgcccgatttgcgtgtactgaatttgatgggaaacccggttatcagacag
attcctaattacagaaggacagtcactgtacgactaaagcacttaacatacctggatgat
agaccagtgtttccaaaggacagagcttgtgcggaggcctgggctaggggagggtacgca
gctgaaaaggaggagagacagcagtgggagagcagggagcggaagaagatcacagacagc
attgaagccttggccatgatcaagcagcgggcagaggagaggaaaagacagagagagagt
caagagagaggggagatgacatcttcagatgatggtgagaatgtgcccgccagtgcggaa
ggcaaggaggagcctcccggggacagagaaacaaggcagaagatggagctatttgttaag
gaaagctttgaggccaaggacgagctctgcccggaaaagccaagtggagaggagccgcct
gtggaggctaaaagagaggatggaggtccagagccagaggggaccctcccagctgagacc
ctgctactgtcgtcacctgtggaggttaaaggagaggacggagatggagagccagagggg
accctcccagctgaggccccaccacccccgccacctgtggaggttaaaggagaggatgga
gatcaagagccagaggggaccctcccagctgagaccctgctactgtcaccgcctgtgaag
gttaaaggagaggatggagatcgagagccagaggggaccctcccagctgaggccccacca
ccaccgcccctgggagctgccagggaagaaccgactccccaggctgtggccactgagggt
gtattcgttacagaacttgatggaacgagaacggaagatttagaaaccattagactggag
acaaaggagacattctgcattgatgacctacctgacttggaagatgatgatgaaacaggc
aaatctctggaagaccagaatatgtgctttccgaagattgaggtcatctcgagcttgagt
gatgacagtgaccctgaactggactacacgtcactccctgtgctggaaaacctccccaca
gacactctgtcaaatatatttgcagtctctaaagacacctcaaaggcggctcgggtgccc
ttcacagacatctttaaaaaagaagctaagagggacttggaaatccgaaaacaagacacc
aagtccccaagacccctgatccaggagctcagcgacgaggacccctctggccagctactg
atgccccccacctgccaaagagatgctgcaccactcacttccagtggagacagggacagc
gacttccttgcagcctcttctccggtgccgactgagagcgccgccacacccccagagacg
tgtgtcggagttgcccagcccagccaagctctgcccacgtgggacctcactgcattccca
gcaccgaaagcatcatag

  All links  
Disease (2)   
   OMIM (2)   
Gene (53)   
   RefGene (39)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (27)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (24)   
DNA sequence (56)   
   RefSeq(nuc) (24)   
   GenBank (16)   
   EMBL (16)   
Protein domain (5)   
   Pfam (5)   
All databases (143)   

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