KEGG   Homo sapiens (human): 55036
Entry
55036             CDS       T01001                                 
Symbol
CCDC40, CFAP172, CILD15, FAP172
Name
(RefSeq) coiled-coil domain 40 molecular ruler complex subunit
  KO
K23730  coiled-coil domain-containing protein 40
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]
    55036 (CCDC40)
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    55036 (CCDC40)
Cilium and associated proteins [BR:hsa03037]
 Motile cilia and associated proteins
  96 nano-molecular ruler
   55036 (CCDC40)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Other domain-containing proteins
  Others
   55036 (CCDC40)
SSDB
Motif
Pfam: BRE1
Other DBs
NCBI-GeneID: 55036
NCBI-ProteinID: NP_060420
OMIM: 613799
HGNC: 26090
Ensembl: ENSG00000141519
UniProt: Q4G0X9
Structure
Position
17:80036642..80100613
AA seq 1142 aa
MAEPGGAAGRSHPEDGSASEGEKEGNNESHMVSPPEKDDGQKGEEAVGSTEHPEEVTTQA
EAAIEEGEVETEGEAAVEGEEEAVSYGDAESEEEYYYTETSSPEGQISAADTTYPYFSPP
QELPGEEAYDSVSGEAGLQGFQQEATGPPESRERRVTSPEPSHGVLGPSEQMGQVTSGPA
VGRLTGSTEEPQGQVLPMGVQHRFRLSHGSDIESSDLEEFVSQEPVIPPGVPDAHPREGD
LPVFQDQIQQPSTEEGAMAERVESEGSDEEAEDEGSQLVVLDPDHPLMVRFQAALKNYLN
RQIEKLKLDLQELVVATKQSRAQRQELGVNLYEVQQHLVHLQKLLEKSHDRHAMASSERR
QKEEELQAARALYTKTCAAANEERKKLAALQTEMENLALHLFYMQNIDQDMRDDIRVMTQ
VVKKAETERIRAEIEKKKQDLYVDQLTTRAQQLEEDIALFEAQYLAQAEDTRILRKAVSE
ACTEIDAISVEKRRIMQQWASSLVGMKHRDEAHRAVLEALRGCQHQAKSTDGEIEAYKKS
IMKEEEKNEKLASILNRTETEATLLQKLTTQCLTKQVALQSQFNTYRLTLQDTEDALSQD
QLEQMILTEELQAIRQAIQGELELRRKTDAAIREKLQEHMTSNKTTKYFNQLILRLQKEK
TNMMTHLSKINGDIAQTTLDITHTSSRLDAHQKTLVELDQDVKKVNELITNSQSEISRRT
ILIERKQGLINFLNKQLERMVSELGGEEVGPLELEIKRLSKLIDEHDGKAVQAQVTWLRL
QQEMVKVTQEQEEQLASLDASKKELHIMEQKKLRVESKIEQEKKEQKEIEHHMKDLDNDL
KKLNMLMNKNRCSSEELEQNNRVTENEFVRSLKASERETIKMQDKLNQLSEEKATLLNQL
VEAEHQIMLWEKKIQLAKEMRSSVDSEIGQTEIRAMKGEIHRMKVRLGQLLKQQEKMIRA
MELAVARRETVTTQAEGQRKMDRKALTRTDFHHKQLELRRKIRDVRKATDECTKTVLELE
ETQRNVSSSLLEKQEKLSVIQADFDTLEADLTRLGALKRQNLSEIVALQTRLKHLQAVKE
GRYVFLFRSKQSLVLERQRLDKRLALIATILDRVRDEYPQFQEALHKVSQMIANKLESPG
PS
NT seq 3429 nt   +upstreamnt  +downstreamnt
atggcggaaccgggcggcgcggcgggccggtcccatccggaagatggatcggcttctgag
ggagagaaggaagggaataatgaaagccacatggtgtcaccaccagagaaggatgatggc
cagaaaggtgaagaagctgtcggtagcacagagcatcctgaggaagtcacaacccaagcg
gaagctgcaattgaagagggggaggtggagacagaaggggaagcagcagtggaaggggaa
gaggaggctgtgtcctatggagatgctgaaagcgaagaggaatattactatacagaaact
tcatccccggaagggcaaatcagtgctgcagatacgacttacccgtatttcagtcctcct
caggaactgcctggagaggaggcatacgatagtgttagcggggaggctggtctccaaggc
ttccagcaagaggccaccggtccaccagaatccagagaaaggagggtcacctccccagag
ccatcccacggagtcttaggcccgtcggagcaaatgggccaggtcacctctgggccagca
gtgggcagattgacaggatccacagaggagccccaggggcaggtgctcccaatgggcgtc
cagcaccgcttccggctgagccacgggagcgacatcgagtcctcagacctggaggagttc
gtctcgcaggagccagtgatccccccaggggtgcccgatgcccaccccagggaaggagac
ctgccagtgttccaggaccagatccagcagcccagcaccgaggagggggccatggcagag
agagtggagtccgaggggagtgacgaggaagcagaagacgaagggtcccagctggtggtt
ttggacccagaccaccccctgatggtaagattccaggctgccctgaagaactacctgaac
cgacagatcgaaaagttgaagctggacctccaagagctggttgtggctaccaagcagagc
cgagcccagcggcaggagctgggggtgaatctctatgaggtgcagcagcacctggtacac
ctgcagaagctgctggagaagagtcacgaccgccacgcaatggcctcgagcgagcgcagg
cagaaggaggaggagctgcaggccgcccgcgctctctacaccaagacctgcgcagccgcc
aacgaggagcgcaaaaagttggcggctctgcagactgagatggagaacttggccctgcat
ctcttctacatgcagaacatcgaccaggacatgcgtgacgacatccgcgtgatgacacaa
gtggtaaagaaggccgagacggagaggatccgggcagaaatcgagaagaaaaagcaggac
ctgtatgtggaccagctcaccactcgagcccagcaactggaagaagacattgccctgttt
gaggctcagtacttggcccaagctgaggacacccggattttaaggaaagcagtgagtgag
gcctgcaccgagatcgacgccatcagcgtggagaagaggcgcatcatgcagcaatgggcc
agcagcctggtgggcatgaagcaccgcgacgaggcgcacagggcggtgctggaggcgctc
agaggatgccagcatcaagccaaatccaccgacggcgagattgaggcctataagaaatcc
atcatgaaggaggaagaaaagaacgagaagctggcgagcatcctgaaccggacagagacg
gaagccacactgctgcagaagctcaccacccagtgcctgaccaagcaggtggccctgcag
agccagttcaatacctacaggctcaccctgcaggacacagaggatgccctcagccaggac
cagctggaacaaatgatactcacggaggagttgcaggccatccgccaagccatccagggc
gagctggagctcaggaggaagacggatgctgccatccgggagaagctgcaggagcacatg
acctccaacaagaccaccaaatacttcaaccagctcatcctgaggctgcagaaggagaag
accaacatgatgacacatctttccaaaatcaacggtgacattgcccagaccaccctggac
atcacacacaccagcagcaggctggacgcacaccagaagaccctggtggagctggaccag
gacgtgaagaaagtcaacgagctcatcaccaacagccagagcgagatctcccggcgcacg
atcctgatcgagaggaagcaagggctcatcaacttcctcaacaagcagctggagcggatg
gtctccgagctggggggggaagaagtggggcccctggagcttgaaatcaaaaggctgagc
aagctgatcgacgagcacgatggcaaggcggtccaggcccaggtgacctggctgcgcctg
cagcaggagatggtcaaggtgacacaggagcaggaggagcagctggcctccctggacgca
tccaagaaggagctccacatcatggagcagaagaaactacgagtagaaagcaagattgag
caggagaagaaggagcagaaggagatcgagcaccacatgaaggacctggacaacgacctg
aagaagctcaacatgttgatgaataaaaaccggtgcagctcggaggagctggagcagaac
aaccgggtgacagagaatgagttcgtgcgctcgctgaaggcctctgagagggagaccatc
aagatgcaggacaagctgaaccagctcagcgaggagaaggcgaccctcctgaatcaactg
gtggaagcagaacaccagattatgctttgggagaaaaaaatccaactggcaaaagagatg
cgttcctcagtggattccgagatcggccagacggagatccgggccatgaagggcgagatc
cacaggatgaaggtcaggctcgggcagctgctgaagcagcaggagaagatgatccgtgcc
atggagttggcggttgcccgcagagagaccgtcaccacccaggccgaggggcagcgcaag
atggacaggaaggcgctcacccgcaccgacttccaccacaagcagcttgagctgcgccgg
aaaatcagggacgttcgcaaggccaccgatgagtgcaccaaaaccgtcctggaactggaa
gaaacacaaagaaatgtgagcagctccctcctagagaagcaggaaaagctgtcggtgatt
caggcagacttcgacacactcgaggccgacctcacccggcttggggccctcaaacgacag
aacctttcagagatcgtggccctgcagacacgccttaagcacctgcaggctgtgaaggag
gggcgctacgtgttcctgttccgctccaagcagtccctagtgctggagcgccagcgcctg
gacaagcgactggctctcatcgccaccatcctggaccgcgtgcgggacgagtacccccag
ttccaggaggccctgcacaaggtcagccagatgatcgccaacaagctcgagtcaccaggg
ccctcctag

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