KEGG   Homo sapiens (human): 55172
Entry
55172             CDS       T01001                                 
Symbol
DNAAF2, C14orf104, CILD10, KTU, PF13
Name
(RefSeq) dynein axonemal assembly factor 2
  KO
K19751  dynein axonemal assembly factor 2
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]
    55172 (DNAAF2)
   04812 Cytoskeleton proteins [BR:hsa04812]
    55172 (DNAAF2)
Cilium and associated proteins [BR:hsa03037]
 Motile cilia and associated proteins
  Dynein assembly factors
   55172 (DNAAF2)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Dyneins
     Dynein-related proteins
      55172 (DNAAF2)
SSDB
Motif
Pfam: PIH1 PIH1_CS SHQ1-like_CS
Other DBs
NCBI-GeneID: 55172
NCBI-ProteinID: NP_060609
OMIM: 612517
HGNC: 20188
Ensembl: ENSG00000165506
UniProt: Q9NVR5
Position
14:complement(49625174..49635244)
AA seq 837 aa
MAKAAASSSLEDLDLSGEEVQRLTSAFQDPEFRRMFSQYAEELTDPENRRRYEAEITALE
RERGVEVRFVHPEPGHVLRTSLDGARRCFVNVCSNALVGAPSSRPGSGGDRGAAPGSHWS
LPYSLAPGREYAGRSSSRYMVYDVVFHPDALALARRHEGFRQMLDATALEAVEKQFGVKL
DRRNAKTLKAKYKGTPEAAVLRTPLPGVIPARPDGEPKGPLPDFPYPYQYPAAPGPRAPS
PPEAALQPAPTEPRYSVVQRHHVDLQDYRCSRDSAPSPVPHELVITIELPLLRSAEQAAL
EVTRKLLCLDSRKPDYRLRLSLPYPVDDGRGKAQFNKARRQLVVTLPVVLPAARREPAVA
VAAAAPEESADRSGTDGQACASAREGEAGPARSRAEDGGHDTCVAGAAGSGVTTLGDPEV
APPPAAAGEERVPKPGEQDLSRHAGSPPGSVEEPSPGGENSPGGGGSPCLSSRSLAWGSS
AGRESARGDSSVETREESEGTGGQRSACAMGGPGTKSGEPLCPPLLCNQDKETLTLLIQV
PRIQPQSLQGDLNPLWYKLRFSAQDLVYSFFLQFAPENKLSTTEPVISISSNNAVIELAK
SPESHGHWREWYYGVNNDSLEERLFVNEENVNEFLEEVLSSPFKQSMSLTPPLIEVLQVT
DNKIQINAKLQECSNSDQLQGKEERVNEESHLTEKEYIEHCNTPTTDSDSSIAVKALQID
SFGLVTCFQQESLDVSQMILGKSQQPESKMQSEFIKEKSATCSNEEKDNLNESVITEEKE
TDGDHLSSLLNKTTVHNIPGFDSIKETNMQDGSVQVIKDHVTNCAFSFQNSLLYDLD
NT seq 2514 nt   +upstreamnt  +downstreamnt
atggccaaagcggcggcctcctcgtcgctggaggacttggacctgagcggagaggaggtc
cagcggctcacctccgccttccaggacccggagttccggcgaatgttctcccagtacgcc
gaggagctcaccgacccggagaaccggcggcgctacgaggcggagatcaccgcgctagag
cgtgagcgcggggtggaagtgcggttcgtgcacccggagcccggccatgtgctgcgcacc
agcctggacggggcgcggcgctgctttgtgaatgtctgcagcaacgcgttggtgggcgcg
cccagcagccggcccggctccggtggcgaccggggcgcagctcctggcagccactggtcc
ctgccctacagcctggcgcccggccgcgagtacgcggggcgcagcagcagccgctacatg
gtctacgacgtggtcttccatccagacgcgcttgcgctggcccggcggcacgagggcttc
cgccagatgctggacgccacggccctggaggccgtcgagaagcagttcggcgtgaagctg
gaccgcaggaatgccaagaccctgaaggccaagtataaggggaccccagaggctgcggtg
ctgcgcacgcccctgcccggggtcatccccgcaaggcctgacggggagccgaagggtcct
ctcccggacttcccctacccttaccagtacccggcagcccccgggccccgggcgccctcc
cctccggaagcggccttgcagcccgcccccaccgagcctcgctacagcgtggtgcagcgc
caccacgtggacctccaggattaccgctgctccagggactcagccccgagccccgtgccc
catgagctggtgatcaccatcgaactgccgctgttgcgctcggccgagcaggcggcgctg
gaggtaacgagaaagctgctgtgcctcgactcgaggaaacctgactaccggctgcggctc
tcgctcccgtacccagtggacgatggccgcggcaaggcacaattcaacaaggcccggcgg
cagctggtggttacgctgccagtggtgctgccggccgcgcgccgggagcccgctgtcgcc
gtcgccgccgccgcgccggaagagtccgcggaccggtccggaactgacggccaggcctgc
gcttccgctcgcgagggggaggcgggacccgcgaggagtcgcgcggaggacggaggccac
gatacctgcgtggctggggctgcgggctccggggtcaccaccctgggcgacccggaggtg
gcgcctccgccggccgcagctggagaggagcgtgtccccaagccgggggagcaggacttg
agcaggcacgcggggtcaccgccgggcagcgtggaggagccatctcctggaggagaaaac
tcacctggtggcggaggctccccttgtttgtcctcccggagcctggcgtggggttcttct
gcgggaagagagagtgcgcgcggagatagcagtgtggaaacacgcgaggagtcggagggc
acgggcggccagcgctcagcctgcgccatgggtggtcccgggaccaagagcggggagcct
ttgtgtcctccgttactgtgtaatcaggacaaagaaaccttgactctgctcattcaggtg
cctcggatccagccgcaaagtcttcaaggagatttgaatcccctctggtacaaattacgc
ttctccgcacaagacttagtttattccttctttttgcaatttgctccagagaataaattg
agtaccacagaacctgtgattagcatttcttcaaacaatgcagtgatagaactggcaaaa
tctccagagagccatggacattggagagagtggtattatggtgtaaacaacgattctttg
gaggaaaggttatttgtcaatgaagaaaatgttaatgagtttcttgaagaggtcctgagc
tctccattcaaacagtctatgtccttgaccccaccattaattgaagttcttcaagttact
gataataagattcaaattaatgcaaagttgcaagaatgtagtaactctgatcagctacaa
ggaaaggaggaaagagtaaatgaagaaagtcatctaactgaaaaggaatatatagaacat
tgtaacacccctacaactgattctgattcatctatagcagttaaagcactacaaatagat
agctttggtttagttacatgctttcaacaagagtctcttgatgtttctcaaatgatactt
ggaaaatctcagcaacctgagtcaaaaatgcaatctgaatttataaaagaaaaaagtgct
acttgttcaaatgaggaaaaagataacttaaacgagtcagtaataactgaagagaaagaa
acagatggagatcacctatcttcattactgaacaaaactacggttcacaatatacctgga
ttcgacagcataaaagaaaccaatatgcaggatggtagtgtgcaggtcattaaagatcat
gtgaccaattgtgcattcagttttcagaattctttgctatatgatttggattaa

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Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (31)   
   KEGG ORTHOLOGY (1)   
   RefGene (22)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (17)   
   RefSeq(nuc) (3)   
   GenBank (7)   
   EMBL (7)   
Protein domain (3)   
   Pfam (3)   
All databases (63)   

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