KEGG   Homo sapiens (human): 139212
Entry
139212            CDS       T01001                                 
Symbol
DNAAF6, CILD36, CXorf41, NYSAR97, PIH1D3, TWISTER
Name
(RefSeq) dynein axonemal assembly factor 6
  KO
K24253  dynein axonemal assembly factor 6
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]
    139212 (DNAAF6)
   04812 Cytoskeleton proteins [BR:hsa04812]
    139212 (DNAAF6)
Cilium and associated proteins [BR:hsa03037]
 Motile cilia and associated proteins
  Dynein assembly factors
   139212 (DNAAF6)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Dyneins
     Dynein-related proteins
      139212 (DNAAF6)
SSDB
Motif
Pfam: PIH1_CS
Other DBs
NCBI-GeneID: 139212
NCBI-ProteinID: NP_001162625
OMIM: 300933
HGNC: 28570
Ensembl: ENSG00000080572
UniProt: Q9NQM4
Position
X:107206611..107244247
AA seq 214 aa
MESENMDSENMKTENMESQNVDFESVSSVTALEALSKLLNPEEEDDSDYGQTNGLSTIGA
MGPGNIGPPQIEELKVIPETSEENNEDIWNSEEIPEGAEYDDMWDVREIPEYEIIFRQQV
GTEDIFLGLSKKDSSTGCCSELVAKIKLPNTNPSDIQIDIQETILDLRTPQKKLLITLPE
LVECTSAKAFYIPETETLEITMTMKRELDIANFF
NT seq 645 nt   +upstreamnt  +downstreamnt
atggaatctgaaaatatggattctgaaaatatgaagacagaaaatatggaatctcaaaat
gtagactttgagagtgtttcttcagttacagctctggaagccctctctaagctacttaat
cctgaagaagaggatgattctgactatggacagacaaatggtttatctactattggagcc
atgggtcctgggaatattggaccaccccaaatagaagagctcaaagtcatccctgaaacc
agcgaggaaaataatgaggacatctggaattcagaagagattccagaaggagcagaatat
gatgatatgtgggatgttagagaaatcccagagtatgagattatattcagacagcaggtg
ggaactgaagatatatttttagggttgtcaaaaaaggactcctcaacaggttgttgcagt
gaactagtggctaaaattaaattgccaaatacaaacccttctgatattcaaattgatatc
caggaaacaatccttgaccttcgtactcctcagaagaagctgttgataactcttcctgag
ctggtggaatgtaccagtgccaaagcattctatatcccagagactgaaactcttgaaatc
actatgactatgaaaagagagttagatattgctaatttcttctga

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