Homo sapiens (human): 144535
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Entry
144535 CDS
T01001
Symbol
CFAP54, C12orf55, C12orf63, CILD54, SPGF98
Name
(RefSeq) cilia and flagella associated protein 54
KO
K25553
cilia- and flagella-associated protein 54
Organism
hsa
Homo sapiens (human)
Disease
H00564
Primary ciliary dyskinesia
H01282
Spermatogenic failure
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
144535 (CFAP54)
Cilium and associated proteins [BR:
hsa03037
]
Motile cilia and associated proteins
Sperm associated proteins
144535 (CFAP54)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
CFAP54_N
fn3
LNS2
Motif
Other DBs
NCBI-GeneID:
144535
NCBI-ProteinID:
NP_001293013
OMIM:
621121
HGNC:
26456
Ensembl:
ENSG00000188596
UniProt:
Q96N23
LinkDB
All DBs
Position
12:96489577..96875555
Genome browser
AA seq
3096 aa
AA seq
DB search
MAAQGSPSSSPSDDSTTSGSLPELPPTSTATSRSPPESKGSSRSSLLQWTCPEDSLPLAV
FYGPLDAKNPLLASCEKEIQELLGFMRKKKALATTEEEKHEFRRRCATSLFNIWTKYAPR
LPADYYNEKLLKVGDSLCQMKEYKLALLQCYGRYLQQFNTNFDENKVDVTQFKATFFPKG
FKDKTAGLTFHALSGKNMCNYQLVCDSDENLKNKESVVQCLHILSSLRLIMQVALPQEHL
CWIIFNGTIYIYTICRKLMVIGQSSKALEYLLWASMCMESLVPLLSLRYLTWRATLYTAV
CQCCYDCHAGIHGEAFARRALAKIDELRQLELMSSSKSQEESRRYFREATMKMAVMIFKR
GVFESRRKNKAVFRPKIRINLREVQTLSWPRTVTERLLDEMFDSTASQFLAVLEALSDSN
RRILQTGPIVTDEVEIHDVVSELFMAGKELLIMSNIGADGMLDFPKTSLLELMIGRKDVI
SVDAAVKFIKLAFTYEEWSLFESSAVHLIYFLQRQDDPESKKAEKDLTLLIAMEPLINVK
RNKGLIFPLENYKEGQSTQIYLKKIAVHDTCLKTCGYSEDIFHLAATLYVCVCTAPQDVQ
PDKEIVVDTIMFLWQKCKLGIQRLNISRNDYAKFTQKISTNKWIYLLWQINEVIHCYKME
DIDIVVVAEVTLRLSEILESLGSPGRKFKQSLDVPLREGTNKFPGAPKGITEILPILQKN
PVEQLLFAYKLLDRAIGGINLNCMLTSLPNGSSVIDHCYAKRTHHIDGDTYKPLASNSFM
MDLHLELIQAQHRIAVVLLDKLQVLQTPTVSKDISTKGPEKLKQSGSTDCFTELNIMNKI
KKNTLSKAIYLMQKALLIFEKDATSTSSWELLMEAYSLIQRIEAEQNALYSYQKYLESSK
RKKSRVPPPPILLSRTHCSVTLKPAPFTSEVKVSWYCILGCKAEGSYGKVRLNNNHLPNS
GEAIPADGKSVFEVKGLETNEKYVFAVAAYSNNGKLVGGAIGETTKPILVYPPLSTITAR
MFLTQVAYQVGNYELAKKVFSPVWDYFVASPLQDEQSVICLSNIITITQRRLHSDILAET
SSILLYLFLRNIFVTSDIKIKEENLFCDNIKGNEIFPSQQIARLIECERVLVALELSNFL
NDSSYALQAVTQCYGLLAPIIYHNIVLVPVVQILIKCIVVLQGLPSIVCSKKHTASFESI
QHMIACCIFYITKILRSWREYDLAVMIINYGKKMLDITPGCKSLFDGSNEQEEMPEEDSS
KKSLKTKKPQQILLPEKINEQLALLETHLLKLTKQYVTSELSGGEDPIFLYPVVLNWSVK
GAVKEVMKFKQKPRFLEFFTQVMLKCMNEEKFHLMVEVTTPVHDFLKRRNESLLGLIKVK
YKDSALNKKANKSLKFKAAVMEIGRSAEMQQRIRSKKKETLRDFIFKNPAISEMVAHERN
RRTSVRKAAQRYLMDYLNPLILSYVKRKRFHRLSLEEMPWRAQMNLYLAGAHFNLVLQKL
WECTKMKFGTSHMMVSFRSCDPNMFSLYNSGTVLPTRKLTVENYKAMLDFLLTAKKRKAN
LPSDAEEFSTFINSIMSDENMSKTQTVYDSDSQSGSSAKEKDRGANLCVMDHFMKIFLYC
RRAMVLAHRGGYWTLLQNCCRALWNFTQELQILLKQAVDLDKTFPISQDGFLCTSVLPFY
LGAELLIDMLIQLQNTSSIKPIEDKGEFSVPSCYGNIKNDNGGSSLTFEHPLDDVNVVDL
KWIHDFVLKSLEVLYQVEKWETLVSLAIQFNTVSHERYTEQVTPLLVYAQRQLLLRIQKF
KGPDITQQPCARYEAEYGEKITCRNFIGKQLKINSSTIEATSNCTDLLKMLISSEYSRAK
ALVCVPVDVTDTLRCFRETLEKSKYHNRSIRHSRKLLSLFLAQTQDVLQASNQRSLKVQA
LHSLGSLLIFAEKKRAAFKCWCQALDDIFRKPDVLHTWKEFGPSLTNVTNSHSPPGFKDY
SEEFLSRVGIWGCLQGAVISAKIAQFIKSLNVEKKTDCCILSALLFQGLLRTTLPHPKAE
RCYAQYEITQLLPGIELFSDRYRADICSVIASLYYIIRELHFVRQNLIVLPLLALYQYFV
SGICQDITRNLEARILKIEVLIDLRFFSEAFYEISQIFYGKNMPCPIPAGYKATGKMKIF
QSFDSGKLLTSKENIQAIDELRNKGLPAVLVTIGQPHLLNKFNFVKAYFFLSVAATINCV
PENKFKTVITNKSKPNLPNLEEIYSKDDGSSFYNLTKLKDEITLSMLKSMLLMEAEDRLN
FLLSEVEQKTLSQCSAGELEIVVEARLQLAAVALQRHRAAYSAAIVFSTLTLLQDSKLFE
KKVVQDDTENPVSPGTSVTENKDDSEFLDPISLNAREYFNIHLWLRCRLALVTAFVAQIH
GIGIVKEDDMTDCLSLINEVCMEAKSAGDTELQAEFLTQAVILGLQEKHLKADIMTNLQD
IIHLLEGNEFISPQSRLTLARSLVLLDDLTKAEKFKESPSSKTGKLNLLTRAHSILTEQM
LAFGETIEFRSSNTKYANPLQPLKNIYLPHVMLLAKIKMRIGHTVAKQVYYKNKRKDPSK
WLPALHLFDVALKLCRTTAVEEHEVEAEILFQKGKIERQILMEEKSPSFQLESLYEAIQL
SLKNDQNSGLIRDSYLEMALLYFHLKKPKIKISGSPLTLKPPLRRSSSVKETSANKFEMY
SSLAWIAIRAAAQVSEAVLAINLLIGKKNTRMHKVNQVALPNIPEFAALDLLSSYTDYLL
DNYQVLFQTSCTFLYQNDDVCDSADGRKKTQTKVDITWILLLRYYIHLQRINNLSKLLAS
ATPVSGISLPDDTLLTSLYNSELILRQKEVHFFLKKFLQLYSSSCIDEFPKELLCQLENP
PLSEKDLRESSAKLYRDSSVQSILSFKPVSGSSCVDITPIEMVTQASNKELCFQWYIPPL
DRPPKETEPMVLLLYAYNLKPLKISDVRHSTYNSTCVGSLWIPLNRVIAIHEKLSNLAQI
AELSLPAAPEITSNENIYEVEVEEESVDNEMEDMIIQCCSEIASLFLNDKEPTPLSEVPF
DISLPSIFNLERLFDLANGCILSGGSLFNWIVSIIP
NT seq
9291 nt
NT seq
+upstream
nt +downstream
nt
atggcggcgcagggctccccctcgagctctccgtcagacgactctaccacctcggggtct
ctgccagaactgccgccgacctccaccgcgacttcgaggtcgcccccagagtcgaagggg
agctcccggagctcgctgcttcagtggacctgccccgaggactcattgcccctagccgtg
ttttatgggccgctggacgcgaaaaacccgctcctggcctcttgtgagaaggagatccag
gagttgttaggctttatgaggaaaaagaaggctttagccaccacggaggaagagaagcac
gaattccgccggcgttgtgccacttctttgtttaatatctggactaaatacgcccccagg
ctgccagcagactattacaacgaaaagcttctgaaggttggagatagcctttgtcaaatg
aaagaatacaaactggcccttttacaatgctatggaagatatcttcagcagttcaatacc
aattttgatgagaataaagtggatgtaactcaattcaaagctacctttttcccaaaaggc
tttaaagataaaactgctggacttacatttcatgctttgagtggcaaaaatatgtgcaac
taccagctggtctgcgacagtgatgaaaacctgaagaataaagaatctgtggtccagtgt
ctgcatatcttgtcctccttaaggctcatcatgcaagtggctctgccacaagagcatctt
tgctggattatcttcaatggtaccatttatatttacaccatttgcagaaaactgatggtc
ataggtcagtcttccaaggccttagagtatctcctgtgggccagcatgtgtatggagtcc
ttggtcccgctcctgtcactcaggtacttgacatggcgcgctactctctacacagctgtt
tgccagtgctgctatgactgccatgccgggattcacggagaggcatttgctcggcgtgct
ttggctaaaattgatgagttaaggcaactggaattaatgagttcctcaaaatcccaggaa
gaatcgcgaagatattttcgagaggccacaatgaagatggcagtgatgatcttcaaaaga
ggagtctttgaatctagaagaaaaaacaaagctgtctttagacctaagataagaattaac
ctaagggaagtacaaactttatcatggccacgaactgtcacagagcggctactggatgag
atgtttgatagcactgcatcccagtttctggctgtcttggaagctctttctgattcaaat
aggcgaatactgcaaactggacccattgttacagatgaagtggagattcatgatgttgtc
tcagaattgtttatggcaggaaaagaacttttgataatgtcaaatattggtgcagatgga
atgcttgattttccaaaaacatctcttctggaacttatgataggaagaaaagatgttatt
tctgtggatgctgctgtgaaatttataaaattagcttttacctatgaggagtggagttta
tttgaatcttctgctgtacatcttatttattttctccagaggcaggatgatccagagtca
aagaaagcagagaaggatttaactcttctgattgcaatggaaccactaatcaacgtgaag
agaaacaaaggtttgatctttcctttggaaaactataaagaaggacagtcaactcaaatt
tatttaaaaaaaattgctgttcatgatacttgtttgaagacttgtggatattcagaggat
attttccatttggcagcaaccttgtatgtctgtgtctgcactgctccccaggatgttcaa
cctgataaagaaattgttgtggacacgataatgttcctatggcagaaatgcaaattagga
attcagcggctcaatatatccagaaatgactatgcaaaattcacccagaaaatcagtact
aacaaatggatttatcttctgtggcagataaatgaagtaattcactgctataaaatggaa
gacattgacattgtggtagtggcagaagtcacattacggttaagtgaaatattggaatct
ttaggaagcccaggaagaaaatttaaacaatctctagatgtacctttaagagaagggact
aacaaattccctggagctccaaaagggatcacagaaattcttccaatattacagaaaaat
cctgtggaacagttactttttgcttataaacttcttgacagagcaatcggtggaataaat
ttgaattgcatgttaacctctttgccaaatggatcatcagtaattgaccactgctatgcc
aagcgtacccaccatatagatggagatacttacaaaccacttgcctcaaatagtttcatg
atggatttgcatcttgaactaattcaagctcagcatcgaatagctgttgtgcttctggac
aaattgcaagttttgcagactccaactgttagcaaagatatttctaccaagggtccggaa
aagttaaaacaatctggaagcactgattgttttacagaattaaatataatgaataaaata
aagaagaatacattatccaaagcaatttacttaatgcagaaagctcttttaatattcgag
aaagatgcaacttctacatcttcatgggaacttttgatggaagcatattccttaattcag
aggattgaagctgaacaaaatgccctatattcctatcagaaatatttggaaagttcaaaa
agaaagaaaagcagagtcccccctccacctatcctgctgtctcgaactcattgttctgtg
acactcaaacctgctccatttacttcagaggttaaggtctcctggtactgcattttgggt
tgcaaagcagaaggaagttatggaaaagtacggctaaacaataatcatctcccaaattca
ggagaagcgataccagctgacggtaaaagtgtttttgaagtgaaaggtttagaaaccaat
gaaaagtatgtatttgcagttgctgcctattctaacaacggaaagcttgtcggtggtgct
attggggagacaactaaaccaattctggtttatccccctctttctactattactgctcgg
atgttcctgacacaggttgcctatcaagttggtaactatgaattggctaagaaagttttc
tcaccagtttgggattattttgttgcttcgccacttcaggatgaacaatctgttatttgt
ttaagcaatataattactattacacaaagaagattacattcagatattttggcagagact
tcttcaatcctcttgtacctttttcttagaaatatttttgtaacaagtgacatcaaaatt
aaagaagaaaatcttttctgtgataatattaaaggcaatgagattttcccatctcaacaa
attgccagactgattgaatgtgagagagtattagtggcattggaacttagcaacttccta
aatgattccagctatgcccttcaagctgtgactcaatgttatggacttcttgctcccata
atttatcacaatattgttttggtacctgttgtacagatcctgataaagtgtatagtggtt
ttgcaaggactaccaagtattgtctgctcgaagaaacatactgcgagctttgaaagtata
caacacatgatagcttgttgtattttctacataacaaagattcttcgttcatggagggaa
tatgacctggcagtaatgattataaattatgggaaaaaaatgttggacatcacaccagga
tgcaagtctctgtttgatggtagtaatgaacaagaagaaatgccagaggaggattcttct
aagaagtctttaaagactaagaagccacagcagatactactgcctgaaaagataaatgaa
cagctggccttgttggagacacacctactcaaactgacaaagcaatatgttacatctgaa
ctctcaggaggagaggaccctatatttctttatcctgtagttttgaattggtcggtcaaa
ggtgccgtgaaagaagttatgaaatttaagcaaaaaccaagatttctggaattctttaca
caagttatgctaaaatgcatgaatgaggaaaaatttcatcttatggtagaggtaacaact
cctgtccatgacttcttgaaaaggagaaatgagtctctacttggactaataaaagtgaaa
tataaggatagtgctttgaataaaaaagcaaacaaatctttaaagttcaaagctgcagta
atggaaattggaagaagtgcagaaatgcaacaaagaataagaagtaaaaaaaaggaaact
ctaagagatttcatttttaaaaatccggctatttctgaaatggtggcacatgaaagaaat
aggagaaccagtgttaggaaagcagcacaacgatacctgatggattacttgaatcctcta
atattaagttatgttaaaagaaagaggttccatcgtctatcacttgaagagatgccctgg
agagctcagatgaacctgtatctagcaggtgcacactttaacctggttttacaaaagcta
tgggagtgtacgaagatgaaatttggcacatcacatatgatggtcagtttccgatcatgt
gatcctaacatgttttcactgtataattcaggaacagtattaccaacaagaaaattgact
gtagaaaattataaagcaatgcttgatttccttcttacagccaaaaaaagaaaggccaac
ttaccatcagatgctgaagaattttctacatttattaattccataatgagtgatgaaaat
atgtccaagacacaaacagtttatgactcagactctcaatcaggttctagtgctaaagaa
aaggaccgaggagcaaatttgtgtgtaatggatcattttatgaaaatctttttatactgc
aggagagcaatggttcttgctcatcgtggtggctattggactctgcttcagaactgctgt
cgggccttatggaactttactcaggaactacaaatacttcttaaacaggcagtggatctt
gataaaacatttcctattagccaagatggtttcctctgcacctctgttttaccattctat
ttgggagcagaattacttattgacatgttaatacaactacaaaataccagttctattaag
cctattgaagacaaaggagaattcagtgttccaagctgttatgggaatattaaaaatgac
aacggtggttctagtcttacctttgagcatcctttggatgatgtaaatgtggttgatttg
aaatggatccacgactttgtattaaaatctctggaagttttatatcaagtggaaaaatgg
gaaacactagtatctcttgccattcagttcaatacagtttcacatgagaggtatacagaa
caagtgacaccacttctggtgtatgcacagcgccagcttctgctgagaatacagaagttc
aagggcccagatattacccaacaaccttgtgcaaggtatgaggctgaatatggagagaag
ataacttgccgaaatttcattgggaagcagcttaagattaattcttcaaccattgaagca
acaagcaactgcacagatttgctaaaaatgcttatctcttcagaatacagccgagccaaa
gcgcttgtctgcgtgcccgtggacgtgacagacaccttgaggtgttttagagagacactg
gaaaaatccaaataccataacagatcaatccgacacagcagaaagttgctttcattattt
cttgcacagacacaagatgttctccaagccagcaatcaaagaagtcttaaagttcaggcg
ttgcattcacttggaagtcttctcatcttcgcagaaaagaaaagggctgcttttaagtgt
tggtgtcaagctcttgatgacatattcagaaaaccagacgtgctacacacgtggaaagaa
tttggcccctcactcaccaatgtcaccaacagtcattcacctccgggtttcaaagactac
agtgaggagtttctgtcaagagttggcatctgggggtgtttgcaaggagcagtcatatca
gcaaagatagcacaatttattaagtcattgaatgttgaaaagaaaactgactgttgcatt
ttgtctgcgttactctttcagggtttgcttagaacaacacttccacatcccaaagctgaa
cgttgctatgctcaatatgaaatcactcagcttctcccaggcattgaactcttctcagat
agatacagggctgacatttgctctgtaattgcaagtctgtattacattatacgtgaactg
cactttgttaggcaaaacctaatagttctgcctctccttgcattgtatcaatattttgtt
tctggaatttgtcaagacataacaagaaatctagaagcaagaatcctcaagatagaagtc
cttatagatttgagattcttttctgaagccttttatgagatatcccaaattttctatgga
aaaaacatgccttgtccaatacctgcaggctataaagccactggaaaaatgaagatcttt
caatcatttgactcaggaaaacttcttaccagtaaagaaaatatacaggcaattgatgaa
ttaagaaataaaggcttgcctgcagttctggttacaattggccaaccacatctcttaaat
aagtttaattttgttaaagcatactttttcctaagtgtggctgcgacaataaattgtgtc
ccagaaaataaatttaagacagtaattaccaacaagagcaaaccaaacctaccaaacttg
gaagagatatattcaaaggatgatggaagttcattttataatcttacaaaacttaaagat
gagatcactcttagcatgctaaagtcgatgttactgatggaagctgaggacaggctaaac
ttccttctgtccgaggtggaacagaagaccctgtctcagtgctccgctggcgagctggag
attgtggtggaggcccggcttcagctggctgcagttgctctgcagaggcaccgggcggca
tacagtgctgcaatagtattttctacacttacacttctccaggattcaaaactttttgaa
aagaaggtagtacaggatgacacagagaatcctgtctctccaggaacttctgtcactgaa
aataaagatgacagtgagtttttagatcctatttccctaaatgcccgagaatatttcaac
attcatctgtggttgaggtgccgcttagcattggtgactgcatttgttgcacagattcat
ggcattggaattgtgaaagaggatgatatgacagattgcctgagcctcatcaatgaagtg
tgtatggaggcaaaaagcgcaggggacacggaactgcaggctgaattcttgacgcaagct
gtaattcttggcctacaagaaaagcatttaaaggcagacatcatgacaaaccttcaggat
ataatacatttgctggaaggaaatgaatttatttctcctcaatcacggctaaccctggca
agaagcctagttttgctggatgacttaaccaaagctgagaaattcaaggaatctccctct
tcaaaaacaggaaaattaaatttgttaactcgggctcatagcattctaactgaacagatg
ctagcttttggagaaacaattgaatttcgttcatcaaacactaaatatgcaaatccatta
cagcctttgaaaaatatctatcttccccatgtcatgttattggccaaaataaaaatgaga
attggacatacagtggccaagcaagtatattacaagaataaaaggaaggacccctcgaag
tggttacctgctcttcatctgtttgatgtggcactgaagctctgtagaacaacagcagtg
gaggaacatgaggtggaagctgaaatcctttttcagaaaggcaaaatagaacgtcaaata
ctaatggaagagaaatctccaagttttcaacttgagagtttatatgaagctatacaacta
agcctgaaaaatgatcaaaactcaggattgataagagactcctacctagaaatggctcta
ttgtattttcatctgaagaagccaaagataaaaatttcaggatcaccattaacacttaag
cctcctctcagaagaagtagttctgttaaagaaacatcagcaaataaatttgaaatgtac
agttcattagcctggattgcaataagagctgctgcacaggtcagtgaagctgtgctggca
attaacttacttattggaaagaagaatactagaatgcataaagttaaccaagtggcatta
ccaaatatcccagaatttgctgctctggatcttttgtcttcgtatacagattatttgctt
gacaactaccaagtcctcttccagacttcctgtacatttttgtaccaaaatgatgatgtg
tgtgacagcgcagatggtagaaaaaagactcagaccaaagtggatattacatggatcctt
ctactgcgctactatattcaccttcagaggattaataatctgagcaaactgctagcatct
gcaacaccagtatctggaatttctttgccagatgatacacttctcacatccctttacaac
tctgagttgattttgcgccagaaagaagtgcattttttccttaaaaaattcttacagctg
tattcttcttcttgtattgatgaatttccaaaagaacttctttgtcaactggaaaatccc
cctctttcagaaaaagacttacgtgaatcatctgccaagttgtatcgcgatagttctgta
caatccattttatcttttaagcctgtttcaggctcatcttgtgtggacataacgccaata
gaaatggtaacgcaagcttcaaacaaagaactttgctttcaatggtacattcctcccctg
gatagacctcccaaggagacagaacctatggttttattgttgtatgcatataatttgaag
cctctgaagatttcagatgttagacattccacttataacagtacatgtgttggctcttta
tggattccactgaatagggttattgcaattcatgagaaattatctaatcttgctcaaata
gctgaactatcattgccagcagctcctgaaattacctcaaatgaaaacatatatgaagta
gaagtggaagaggaatcagttgataatgaaatggaagacatgattattcaatgttgctct
gaaatagcatctctgtttttgaatgataaagagccaacaccactatctgaggtcccattt
gatatctcactgccgtctatattcaatcttgagagactttttgatctggctaatggttgc
attttatcaggaggaagccttttcaactggatagtgtcaattattccctga
DBGET
integrated database retrieval system
