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CFAP54 (cilia and flagella associated protein 54)
Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
144535
Gene nameGene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 54
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CFAP54
SynonymsGene synonyms aliases
C12orf55, C12orf63, CILD54, SPGF98
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.1
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT755186 hsa-miR-1296-3p PAR-CLIP 23592263
MIRT755187 hsa-miR-4768-3p PAR-CLIP 23592263
MIRT755188 hsa-miR-4786-3p PAR-CLIP 23592263
MIRT755189 hsa-miR-4693-3p PAR-CLIP 23592263
MIRT755190 hsa-miR-4481 PAR-CLIP 23592263
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005930 Component Axoneme ISS
GO:0007283 Process Spermatogenesis ISS
GO:0030154 Process Cell differentiation IEA
GO:0060271 Process Cilium assembly IBA 21873635
GO:0060271 Process Cilium assembly ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96N23
Protein name Cilia- and flagella-associated protein 54
Protein function Required for assembly and function of cilia and flagella.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14858 DUF4486
99 → 638
Domain of unknown function (DUF4486)
 Family
Sequence 
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
Sequence length 3096
Interactions View interactions
Associated diseases
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243 20852631

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