KEGG   Homo sapiens (human): 80217
Entry
80217             CDS       T01001                                 
Symbol
CFAP43, C10orf79, HYDNP1, SPGF19, WDR96, bA373N18.2
Name
(RefSeq) cilia and flagella associated protein 43
  KO
K24223  cilia- and flagella-associated protein 43
Organism
hsa  Homo sapiens (human)
Disease
H01282  Spermatogenic failure
H01677  Congenital hydrocephalus
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    80217 (CFAP43)
Cilium and associated proteins [BR:hsa03037]
 Motile cilia and associated proteins
  Tether/Tether head (T/TH) complex
   80217 (CFAP43)
SSDB
Motif
Pfam: ANAPC4_WD40
Other DBs
NCBI-GeneID: 80217
NCBI-ProteinID: NP_079421
OMIM: 617558
HGNC: 26684
Ensembl: ENSG00000197748
Pharos: Q8NDM7(Tdark)
UniProt: Q8NDM7
Position
10:complement(104129888..104232364)
AA seq 1665 aa
MAQGRERDEGPHSAGGASLSVRWVQGFPKQNVHFVNDNTICYPCGNYVIFINIETKKKTV
LQCSNGIVGVMATNIPCEVVAFSDRKLKPLIYVYSFPGLTRRTKLKGNILLDYTLLSFSY
CGTYLASYSSLPEFELALWNWESSIILCKKSQPGMDVNQMSFNPMNWRQLCLSSPSTVSV
WTIERSNQEHCFRARSVKLPLEDGSFFNETDVVFPQSLPKDLIYGPVLPLSAIAGLVGKE
AETFRPKDDLYPLLHPTMHCWTPTSDLYIGCEEGHLLMINGDTLQVTVLNKIEEESPLDR
RNFISPVTLVYQKEGVLASGIDGFVYSFIIKDRSYMIEDFLEIERPVEHMTFSPNYTVLL
IQTDKGSVYIYTFGKEPTLNKVLDACDGKFQAIDFITPGTQYFMTLTYSGEICVWWLEDC
ACVSKIYLNTLATVLACCPSSLSAAVGTEDGSVYFISVYDKESPQVVHKAFLSESSVQHV
VYDQQGIFLLVGTAEGKVFIINANSSSSFQIIGFTEVAKDILQISTVSLLETDIVEVMVL
SSLPEAGRSRLEMFTLPTLLPQVSTTFADERGRLKDEIIHKYLYELEHALSSAVLGFQSN
QIYGFCSQVPYICSYLLPEEEHTGIYILKPYKKVQSRQYGPGLLYLSSHGLWLITIAKCG
ILCIRDVYTLETFAWCRSHSHQGHGIQSMRISMDGQNILVNGRDDGTLVYLKWKRFGGHL
ASEILDYYQKLLISLSSAMDKENHYLSTTPKVSVDLGSDSEHTKQKASTDLSQDELVLTD
VKKEIPWIQQKSQEAIKKEVNLFSKKRKEIKQGIKSLSKTILNMMEENDKLENIAKLDQQ
EFGLDLEELERLHDESQEEVAKMIKDVEMHNLAKSYLAELIKEECWNSMAVKGRALKCFH
IPCVVENFPMKARTVEELKELERVLQQKKIEAECLKLRKEIVEAQSGVKLIKQRHEEDDE
EEEEEDKTVKYSNLPNYLLGSLSTDFGVDTSLLSSQLELHSREEKINQIILLKDIIYKVK
TVFNNEFDAAYKQKEFEIARVKERNVRIREIILDLELEEAVWQPEFEDCEKPERTLVVQD
EEITAHKHIKPWHKAKELIVNHEKEHWLLIQDASTRLRALMDMMGGVLEVKKEDILRMVI
PQPAFMAKPDAVWTEEERKQFKDYEKKVKELNEERDKYRKSLEAELKKLQNSIQESTQAF
DEHLKRLFERRVKAEMVTNQEELKISNLAFSLLLDEELSSREKFLNNYLTRKQHEKSQTS
EAVRKSREDLDVCKEHYDNLLAEDKVMDRSFKKEFSEIPGHQVDILYKLFKRRPRISKQK
THSETTSVVPFGELPGSGKLNKDAFAQLMKAMDELDNISNMPEGLDPLVWNHFCMTRRAK
VENEQKVKQKAADLLEMATFLQKRVEEEEKVQQEIERVFHELILLQEEKVRFQLNLTIQI
LLKQGQVELENFQLVLEYSDAILINKNIIEDLNSVIRTQGQKKVASMMESKDVHKRILQI
EWEHKKMEMEREDLNQKAWDIQMLFFSRDRQKYLNEPNYEALISIQIGIMEQTIAVLDKM
HKKNVENCKKLLKKLGKFSNQKDIANYALSCNLREELVAVSERKDICNAMGSKLTCEKIV
KERYENMMQQQKLTNISKQQAEQISILQTEVERLRMKTFPALVQM
NT seq 4998 nt   +upstreamnt  +downstreamnt
atggcgcaaggccgggagcgcgacgaaggcccccactccgccggcggcgcgtccttgtcc
gtgagatgggtgcaaggattccctaagcagaatgttcattttgtcaacgacaacaccatt
tgctacccttgtgggaattatgtaatatttattaatattgaaaccaagaaaaagactgta
ctgcagtgtagtaatggaattgtgggcgtcatggcaactaacatcccctgtgaagttgtg
gctttttctgaccggaagctaaaacctctcatctacgtatacagctttccaggattgacc
agaaggaccaaattgaaaggcaacattctcctggactacactttactttcattcagttac
tgtggcacctacctggctagttactcctctctcccagaatttgaactggccctttggaac
tgggaatcgagtatcattttgtgtaagaaatcacagcctggaatggatgtgaaccaaatg
tcttttaaccccatgaactggcgccagctgtgcttatcaagtccaagtacagtgagcgtg
tggaccattgaaagaagtaaccaggagcattgtttcagagcaaggtcggtgaaattacct
ctagaagatgggtcattttttaatgaaacggatgtcgttttcccccagtcgttgccgaaa
gatctcatctatggtcccgtgctgccactgtcagccattgccgggctggtaggcaaagag
gcagagactttccggccgaaagatgatctatatcctttgcttcacccgactatgcattgc
tggactccaacaagtgacttgtacattggctgtgaagagggtcatcttttaatgattaat
ggagacaccttgcaagtgactgtacttaataagatagaagaggaatcgccattggacaga
agaaattttatcagtccagtaaccttggtatatcagaaggagggcgtgctggcttctgga
attgatggctttgtgtattcttttattattaaagatagaagttacatgatcgaggatttt
cttgagattgaaagacctgtagaacatatgacattttctcccaattatacagtgttgctg
attcaaacagacaagggatctgtttatatctacacttttggtaaggagccaaccttaaat
aaagtcctagatgcttgtgatgggaaatttcaggcaattgactttatcacacctggaacc
caatacttcatgacacttacatattcaggggaaatttgtgtttggtggctggaggattgt
gcttgtgtaagcaagatttatctgaataccctagcaacggttctggcttgctgtccatcc
tccctctctgcagccgtgggcacggaggatggctcggtctacttcatcagcgtatatgat
aaggaatcccctcaggtcgtgcacaaggcctttctctcggaatcgtccgtgcagcacgtc
gtttatgatcagcaaggaatatttctgttagttggaacagcagaaggaaaagtctttatt
atcaatgccaactcctcaagctcatttcagattattggattcacagaggtggccaaagac
attttacagatatccacagtgtctcttttagaaacagacatagtggaagtgatggtgctt
tcctcgcttccagaagcagggagaagcaggttggagatgttcacactgcctacattactg
ccacaagtttccacaacctttgctgatgaaagaggaaggctgaaagatgaaatcattcat
aagtacctgtatgagttggagcacgctctgtcctctgcagtcttgggctttcaaagtaac
caaatatatggcttctgtagtcaagtgccatacatctgtagctaccttcttcctgaagaa
gaacataccggtatctacattcttaaaccatacaaaaaagtacaaagcagacagtatgga
cctggactgctctatctgtcttcacatggattgtggctcataacaatagctaaatgtgga
attctgtgtatccgagacgtttatactttggaaacatttgcttggtgtcggagtcattct
caccagggtcatgggattcagtcaatgagaatttcaatggatggacaaaacattctggtg
aatgggagagatgatggcacccttgtctacctaaagtggaagcgatttggaggacaccta
gccagtgaaattctggactattaccagaaactattaatttccctgagcagcgccatggac
aaggagaatcattatttaagcacaacaccaaaagtttccgtagatttgggatccgattct
gaacacacaaaacagaaggcaagcactgacttatcacaagatgaattagttctaaccgat
gttaagaaggaaattccttggatacaacaaaaaagccaagaggccatcaaaaaggaggtt
aatctgttttccaagaaaaggaaagagataaaacaaggaatcaaatcactttccaaaact
attctgaatatgatggaagaaaatgacaaactagaaaatattgcaaaattagaccaacag
gaatttggtctggatcttgaggaactagaaaggcttcatgatgaaagtcaggaagaagtg
gcaaagatgataaaggatgtagagatgcataacttagccaagagctatttggctgaactt
atcaaagaagaatgttggaattcgatggctgtgaaaggtcgagctcttaagtgttttcat
atcccctgtgtggttgaaaacttcccgatgaaagcgcgcacggttgaagagctgaaagaa
ttggaaagagttttacagcaaaagaagattgaagcagagtgtcttaaactacggaaggaa
attgtagaggctcagtctggagttaagttgattaaacagcgtcatgaagaggatgatgaa
gaagaggaagaggaagacaagacagtaaaatatagcaatttgcccaattacctgcttggt
agtctgagtactgattttggggtagatacctctttattgtcaagccaattggagcttcat
tccagagaagagaaaatcaaccaaattatattattgaaagatatcatttacaaggtaaaa
actgttttcaataatgagtttgacgctgcatataaacaaaaagagtttgaaattgcacgc
gtgaaggaaagaaatgttcgaattcgagaaattattttagatctggaattggaagaagca
gtctggcaaccagaatttgaagactgtgagaagccagagagaacgcttgttgtgcaagat
gaggagattacagcccacaaacacattaagccgtggcacaaagccaaagaattgatcgtg
aatcatgaaaaggagcactggcttctgatacaggatgccagtacaagactccgagctctg
atggacatgatgggaggagttctggaagtcaagaaggaagatattttgagaatggtgatt
cctcaacctgctttcatggcaaaacctgatgctgtgtggactgaagaagaaagaaaacaa
ttcaaagattatgagaaaaaagtaaaggagttaaatgaagaaagagataagtatagaaag
tcattagaagcagaactgaagaaacttcaaaactctattcaagaaagcacacaggccttt
gatgaacatttgaaaagactttttgaaaggagagtgaaggcagagatggttaccaaccag
gaggaactgaaaataagtaaccttgcattttctttattgttggatgaagaattaagctct
agagaaaaattcctgaacaactaccttacaaggaaacagcacgagaaaagccagacttca
gaagctgttcggaaatctagagaagacctggatgtgtgcaaggagcactatgacaactta
ctggcagaagacaaagttatggatcgcagctttaaaaaggaattttctgaaattcctggt
catcaagtggatatactctacaaactttttaaacgccgaccaaggatttccaaacagaaa
acgcactcagaaacaaccagcgttgtccctttcggagaactaccaggatctggcaagttg
aataaggatgcctttgcccagttaatgaaagctatggatgagttggacaatattagtaac
atgccagaaggcttggaccctttggtctggaatcatttctgcatgacaagacgagcaaaa
gtggaaaatgaacagaaagtaaagcagaaagcagctgacttattggaaatggcaactttc
ctccagaagagagttgaggaggaagagaaggtgcaacaggagattgagagagtgttccat
gaactcatcctattacaggaagagaaagtgagattccagttgaatttgacaatccaaatt
cttcttaaacaaggacaagtagaactggaaaatttccagctagtactggagtattctgat
gcaattctcatcaacaagaacataattgaagacttgaattctgtgattcggactcaagga
caaaagaaagttgctagcatgatggaaagtaaagatgtacacaaaagaatacttcagatt
gagtgggaacataagaaaatggagatggaaagggaagatctaaatcagaaggcttgggat
attcagatgctatttttttcaagagatcgtcaaaagtacctaaatgaaccaaactatgag
gctctgattagtattcagattggaataatggaacaaaccattgctgttttagataagatg
cacaaaaagaatgtggaaaactgcaagaaactactcaaaaaacttggaaagttcagcaat
caaaaagatatagcaaattatgccctaagctgcaatctacgagaagagttggtagctgtc
tcagagagaaaagacatctgtaatgcaatggggtctaaactgacttgtgaaaagattgtc
aaagaacggtatgaaaacatgatgcaacagcagaagttaacaaatatttcaaaacaacaa
gctgaacagatttcaatactacagactgaagttgaaagattaagaatgaaaacatttcct
gctcttgttcaaatgtaa

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