LOCUS       NM_001378189            4063 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 57 (CFAP57),
            transcript variant 6, mRNA.
ACCESSION   NM_001378189 XM_005270520
VERSION     NM_001378189.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4063)
  AUTHORS   Ma,A., Zhou,J., Ali,H., Abbas,T., Ali,I., Muhammad,Z., Dil,S.,
            Chen,J., Huang,X., Ma,H., Zhao,D., Zhang,B., Zhang,Y., Shah,W.,
            Shah,B., Murtaza,G., Iqbal,F., Khan,M.A., Khan,A., Li,Q., Xu,B.,
            Wu,L., Zhang,H. and Shi,Q.
  TITLE     Loss-of-function mutations in CFAP57 cause multiple morphological
            abnormalities of the flagella in humans and mice
  JOURNAL   JCI Insight 8 (3), e166869 (2023)
   PUBMED   36752199
  REMARK    GeneRIF: Loss-of-function mutations in CFAP57 cause multiple
            morphological abnormalities of the flagella in humans and mice.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4063)
  AUTHORS   Bustamante-Marin,X.M., Horani,A., Stoyanova,M., Charng,W.L.,
            Bottier,M., Sears,P.R., Yin,W.N., Daniels,L.A., Bowen,H.,
            Conrad,D.F., Knowles,M.R., Ostrowski,L.E., Zariwala,M.A. and
            Dutcher,S.K.
  TITLE     Mutation of CFAP57, a protein required for the asymmetric targeting
            of a subset of inner dynein arms in Chlamydomonas, causes primary
            ciliary dyskinesia
  JOURNAL   PLoS Genet 16 (8), e1008691 (2020)
   PUBMED   32764743
  REMARK    GeneRIF: Mutation of CFAP57, a protein required for the asymmetric
            targeting of a subset of inner dynein arms in Chlamydomonas, causes
            primary ciliary dyskinesia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4063)
  AUTHORS   Winham,S.J., Cuellar-Barboza,A.B., Oliveros,A., McElroy,S.L.,
            Crow,S., Colby,C., Choi,D.S., Chauhan,M., Frye,M. and
            Biernacka,J.M.
  TITLE     Genome-wide association study of bipolar disorder accounting for
            effect of body mass index identifies a new risk allele in TCF7L2
  JOURNAL   Mol Psychiatry 19 (9), 1010-1016 (2014)
   PUBMED   24322204
REFERENCE   4  (bases 1 to 4063)
  AUTHORS   Burnight,E.R., Wang,G., McCray,P.B. Jr. and Sinn,P.L.
  TITLE     Transcriptional targeting in the airway using novel gene regulatory
            elements
  JOURNAL   Am J Respir Cell Mol Biol 47 (2), 227-233 (2012)
   PUBMED   22447971
REFERENCE   5  (bases 1 to 4063)
  AUTHORS   Rorick,N.K., Kinoshita,A., Weirather,J.L., Peyrard-Janvid,M., de
            Lima,R.L., Dunnwald,M., Shanske,A.L., Moretti-Ferreira,D.,
            Koillinen,H., Kere,J., Mansilla,M.A., Murray,J.C., Goudy,S.L. and
            Schutte,B.C.
  TITLE     Genomic strategy identifies a missense mutation in WD-repeat domain
            65 (WDR65) in an individual with Van der Woude syndrome
  JOURNAL   Am J Med Genet A 155A (6), 1314-1321 (2011)
   PUBMED   21574244
  REMARK    GeneRIF: A missense mutation in WD-repeat domain 65 (WDR65) in an
            individual with Van der Woude syndrome.
REFERENCE   6  (bases 1 to 4063)
  AUTHORS   Smith,T.F.
  TITLE     Diversity of WD-repeat proteins
  JOURNAL   Subcell Biochem 48, 20-30 (2008)
   PUBMED   18925368
  REMARK    Review article
REFERENCE   7  (bases 1 to 4063)
  AUTHORS   Li,D. and Roberts,R.
  TITLE     WD-repeat proteins: structure characteristics, biological function,
            and their involvement in human diseases
  JOURNAL   Cell Mol Life Sci 58 (14), 2085-2097 (2001)
   PUBMED   11814058
  REMARK    Review article
REFERENCE   8  (bases 1 to 4063)
  AUTHORS   Koillinen,H., Wong,F.K., Rautio,J., Ollikainen,V., Karsten,A.,
            Larson,O., Teh,B.T., Huggare,J., Lahermo,P., Larsson,C. and Kere,J.
  TITLE     Mapping of the second locus for the Van der Woude syndrome to
            chromosome 1p34
  JOURNAL   Eur J Hum Genet 9 (10), 747-752 (2001)
   PUBMED   11781685
REFERENCE   9  (bases 1 to 4063)
  AUTHORS   Smith,T.F., Gaitatzes,C., Saxena,K. and Neer,E.J.
  TITLE     The WD repeat: a common architecture for diverse functions
  JOURNAL   Trends Biochem Sci 24 (5), 181-185 (1999)
   PUBMED   10322433
  REMARK    Review article
REFERENCE   10 (bases 1 to 4063)
  AUTHORS   Neer,E.J., Schmidt,C.J., Nambudripad,R. and Smith,T.F.
  TITLE     The ancient regulatory-protein family of WD-repeat proteins
  JOURNAL   Nature 371 (6495), 297-300 (1994)
   PUBMED   8090199
  REMARK    Review article
            Erratum:[Nature 1994 Oct 27;371(6500):812]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139138.17 and AC093420.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 31, 2020 this sequence version replaced XM_005270520.2.
            
            Summary: This protein encoded by this gene belongs to the WD
            repeat-containing family of proteins, which function in the
            formation of protein-protein complexes in a variety of biological
            pathways. This family member is thought to function in craniofacial
            development, possibly in the fusion of lip and palate. A missense
            mutation in this gene is associated with Van der Woude syndrome 2.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, Aug 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.1311283.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372492.9/ ENSP00000361570.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-124               AL139138.17        62257-62380
            125-300             AL139138.17        62662-62837
            301-617             AL139138.17        71461-71777
            618-904             AL139138.17        73518-73804
            905-1112            AC093420.2         59-266
            1113-1265           AC093420.2         1617-1769
            1266-1405           AC093420.2         12463-12602
            1406-1571           AC093420.2         13391-13556
            1572-1685           AC093420.2         14300-14413
            1686-1898           AC093420.2         21630-21842
            1899-2072           AC093420.2         24653-24826
            2073-2234           AC093420.2         30165-30326
            2235-2390           AC093420.2         34292-34447
            2391-2484           AC093420.2         36282-36375
            2485-2675           AC093420.2         37015-37205
            2676-2849           AC093420.2         37734-37907
            2850-3008           AC093420.2         38956-39114
            3009-3152           AC093420.2         41893-42036
            3153-3269           AC093420.2         47418-47534
            3270-3404           AC093420.2         49189-49323
            3405-3548           AC093420.2         49405-49548
            3549-3681           AC093420.2         58137-58269
            3682-4063           AC093420.2         68887-69268
FEATURES             Location/Qualifiers
     source          1..4063
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..4063
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /note="cilia and flagella associated protein 57"
                     /db_xref="GeneID:149465"
                     /db_xref="HGNC:HGNC:26485"
                     /db_xref="MIM:614259"
     exon            1..124
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            125..300
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     CDS             144..3896
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /note="isoform c is encoded by transcript variant 6; WD
                     repeat-containing protein 65"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 57
                     isoform c"
                     /protein_id="NP_001365118.1"
                     /db_xref="CCDS:CCDS90934.1"
                     /db_xref="GeneID:149465"
                     /db_xref="HGNC:HGNC:26485"
                     /db_xref="MIM:614259"
                     /translation="MSAVVAQTLHVFGLRSHVANNIFYFDEQIIIFPSGNHCVKYNVD
                     QKWQKFIPGSEKSQGMLALSISPNRRYLAISETVQEKPAITIYELSSIPCRKRKVLNN
                     FDFQVQKFISMAFSPDSKYLLAQTSPPESNLVYWLWEKQKVMAIVRIDTQNNPVYQVS
                     FSPQDNTQVCVTGNGMFKLLRFAEGTLKQTSFQRGEPQNYLAHTWVADDKIVVGTDTG
                     KLFLFESGDQRWETSIMVKEPTNGSKSLDVIQESESLIEFPPVSSPLPSYEQMVAASS
                     HSQMSMPQVFAIAAYSKGFACSAGPGRVLLFEKMEEKDFYRESREIRIPVDPQSNDPS
                     QSDKQDVLCLCFSPSEETLVASTSKNQLYSITMSLTEISKGEPAHFEYLMYPLHSAPI
                     TGLATCIRKPLIATCSLDRSIRLWNYETNTLELFKEYQEEAYSISLHPSGHFIVVGFA
                     DKLRLMNLLIDDIRSFKEYSVRGCGECSFSNGGHLFAAVNGNVIHVYTTTSLENISSL
                     KGHTGKIRSIVWNADDSKLISGGTDGAVYEWNLSTGKRETECVLKSCSYNCVTVSPDA
                     KIIFAVGSDHTLKEIADSLILREISAFDVTYTAIVISHSGRMMFVGTSVGTIRAMKYP
                     LPLQKEFNEYQAHAGPITKMLLTFDDQFLLTAAEDGCLFTWKVFDKDGRGIKREREVG
                     FAEEVLVTKTDMEEKAQVMLELKTRVEELKMENEYQLRLKDMNYSEKIKELTDKFIQE
                     MESLKTKNQVLRTEKEKQDVYHHEHIEDLLDKQSRELQDMECCNNQKLLLEYEKYQEL
                     QLKSQRMQEEYEKQLRDNDETKSQALEELTEFYEAKLQEKTTLLEEAQEDVRQQLREF
                     EETKKQIEEDEDREIQDIKTKYEKKLRDEKESNLRLKGETGIMRKKFSSLQKEIEERT
                     NDIETLKGEQMKLQGVIKSLEKDIQGLKREIQERDETIQDKEKRIYDLKKKNQELGKF
                     KFVLDYKIKELKKQIEPRENEIRVMKEQIQEMEAELENFHKQNTQLELNITELWQKLR
                     ATDQEMRRERQKERDLEALVKRFKTDLHNCVAYIQEPRLLKEKVRGLFEKYVQRADMV
                     EIAGLNTDLQQEYTRQREHLERNLATLKKKVVKEGELHRTDYVRIMQENVSLIKEINE
                     LRRELKFTRSQVYDLEAALKLTKKVRPQEVSETEPSRDMLSTAPTARLNEQEETGRII
                     EMQRLEIQRLRDQIQEQEQVTGFHTLAGVRLPSLSNSEVDLEVKTN"
     exon            301..617
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            618..904
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1112
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1265
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1405
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1571
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1685
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            1686..1898
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            1899..2072
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            2073..2234
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            2235..2390
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            2391..2484
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            2485..2675
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            2676..2849
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            2850..3008
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            3009..3152
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            3153..3269
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            3270..3404
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            3405..3548
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            3549..3681
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     exon            3682..4063
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4044..4049
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /note="hexamer: AATAAA"
     polyA_site      4063
                     /gene="CFAP57"
                     /gene_synonym="SPGF95; VWS2; WDR65"
                     /note="major polyA site"
ORIGIN      
        1 acttccggtt tgtcgttgct ataggaaccg ctacggcgtt tgaaagtgtc cgggttgctt
       61 aggatcccta caggtagcgc ctctggatac atgcgtggtc tgctgaccca gagagaaacg
      121 aaagaactgt ttggcgggag atcatgtcag ccgtggtagc tcagacgctg catgtttttg
      181 gtcttcgatc ccacgtggcc aacaatatct tctacttcga tgaacagatc attatatttc
      241 cttcaggaaa tcactgtgtg aagtacaatg tggatcagaa atggcaaaaa ttcattccag
      301 gctcagagaa gagtcagggc atgttggcct tgtccatcag tcccaatcgg cggtacctcg
      361 ctatctctga gactgtgcaa gaaaaacctg ccatcaccat ttatgaattg tcatccatcc
      421 cttgccggaa gcgcaaagtt cttaataatt ttgacttcca agttcagaaa tttattagca
      481 tggctttttc tccagactcc aaatacctat tggctcagac gtcacctcca gagtcaaatc
      541 ttgtctactg gctgtgggaa aaacagaaag taatggccat tgttagaatc gacactcaga
      601 acaaccctgt ctaccaggtg agcttcagtc cacaggataa cactcaggtg tgtgtcactg
      661 gaaatgggat gtttaagctt ctccgttttg ctgagggaac cctgaagcaa accagctttc
      721 agaggggaga accccaaaac tatctagctc acacctgggt ggctgatgac aagattgtcg
      781 ttggcactga cacaggcaaa ctcttcctct ttgaatctgg agatcagcgt tgggagacca
      841 gcataatggt caaggaacct accaatggct caaagagcct ggatgtcatt caggaatcag
      901 agagcctgat tgaatttcca ccagtcagtt ctccactccc ttcctatgaa cagatggtgg
      961 cggccagtag ccatagccag atgtccatgc cccaggtgtt tgccattgca gcctattcaa
     1021 agggatttgc ctgttctgct gggccaggga gagttctgct gtttgagaag atggaagaaa
     1081 aggattttta ccgtgagagc agagaaatca ggattcctgt ggacccgcag agcaatgatc
     1141 caagtcagtc tgacaaacag gacgttctct gcctgtgctt cagcccctca gaggaaactc
     1201 tggttgccag caccagtaag aaccaactct acagcatcac catgtccctg acagagatca
     1261 gcaaggggga gcctgctcac tttgagtatt tgatgtatcc attgcactca gcacccatca
     1321 ccggtctagc tacctgcatc cgcaaacccc ttatagccac ctgttctctg gatcgatcca
     1381 tccgcctttg gaattatgaa acaaacaccc tggaactatt taaggaatac caagaagagg
     1441 catattccat cagccttcat ccatctggac acttcattgt agtagggttt gctgacaaac
     1501 tacgcctcat gaatctactc attgatgata tacgttcttt caaagaatac tctgttagag
     1561 gatgcggaga gtgttccttt agcaatggag gtcacctgtt tgctgcagtc aatggaaatg
     1621 tgattcacgt ttacaccacc acgagcctag agaacatctc aagcctgaaa ggacacacag
     1681 ggaagattcg ctcaattgtg tggaatgcag atgatagcaa actgatttct ggtggcacag
     1741 atggtgctgt gtatgaatgg aatctgtcca caggaaagag agagacagaa tgcgtgctca
     1801 agtcttgcag ctacaactgt gttactgtct cccccgatgc caaaattatc tttgctgttg
     1861 gatcagacca caccctcaag gagattgcag attccttgat ccttcgagag atatcggcgt
     1921 ttgatgtcac ctacaccgcc attgtcatct cgcattctgg acgcatgatg tttgtgggca
     1981 cctcggtggg aaccattcgt gccatgaagt accctctgcc tctgcagaag gaattcaatg
     2041 agtaccaggc ccatgccggt cctatcacca agatgttgct tacctttgat gatcagttcc
     2101 tgctgactgc tgctgaggat ggctgcctgt tcacctggaa ggtctttgat aaggatggcc
     2161 ggggaatcaa gcgagagagg gaggtgggct ttgccgaaga ggtgcttgtg actaaaacag
     2221 acatggaaga aaaggctcag gttatgttgg agctaaagac tcgtgtggag gaattaaaaa
     2281 tggagaatga gtatcaactc cgactaaagg acatgaacta ttctgagaag attaaggagc
     2341 taacagacaa gttcatccag gaaatggagt ccttgaaaac aaaaaaccag gtcttaagaa
     2401 cagaaaaaga gaagcaggat gtttatcacc atgagcacat agaagacctc ctagacaagc
     2461 aaagccggga actgcaggac atggaatgtt gcaacaacca aaagttgctt ctagaatatg
     2521 agaagtacca ggagctgcag ctcaagtccc agaggatgca ggaagagtat gaaaaacagc
     2581 tccgggataa cgatgagacc aagagccagg ccctggagga gctgactgag ttttacgagg
     2641 caaaactgca ggagaaaacc acccttctgg aagaggcaca ggaagacgtc aggcagcagc
     2701 tgcgggagtt tgaagagacc aagaagcaga ttgaggaaga tgaagaccga gaaatccaag
     2761 atatcaaaac caagtatgag aaaaagcttc gggatgaaaa ggaatcaaac ctgcggctca
     2821 agggagaaac aggcatcatg aggaagaagt tcagcagcct acagaaggag attgaagaac
     2881 gaaccaatga catcgagacc ctaaaaggag agcagatgaa gctgcaagga gtcattaagt
     2941 ctctggagaa ggacatccaa ggcctcaagc gagagatcca ggaaagagac gagactattc
     3001 aagacaagga gaagcgaatt tatgatctga aaaagaaaaa tcaagaacta gggaaattca
     3061 agtttgtgct tgactacaaa ataaaggagc tgaagaagca aatagaacct cgagagaatg
     3121 agatcagggt gatgaaggaa cagattcagg agatggaagc tgaactggag aatttccata
     3181 agcagaacac tcaactggag ctgaacatca cagaattgtg gcagaaactg agagccaccg
     3241 atcaggagat gcgcagagag agacagaagg agcgagactt ggaagcgctg gtcaaaaggt
     3301 ttaaaacaga cctccacaac tgcgtagcct atattcagga accgcggctg ctgaaggaga
     3361 aggttcgagg tctctttgag aagtacgtgc agcgagcaga catggtggag atcgcagggc
     3421 tgaacacaga cctgcagcag gagtacaccc ggcagcggga gcacctggag aggaacctgg
     3481 ccactctcaa gaagaaggtg gtcaaggagg gcgagctgca ccgcacagac tacgtccgca
     3541 tcatgcagga aaatgtctct ctgatcaagg aaattaatga gctccgcagg gagctgaagt
     3601 tcactcggtc ccaagtctat gaccttgaag cagctctgaa actgaccaag aaagtccgac
     3661 cacaagaagt ttcagagaca gaacccagca gggacatgct cagcacagct cccaccgcaa
     3721 ggttgaatga gcaagaagaa actgggagga tcattgaaat gcagcgccta gaaatccagc
     3781 gcctcagaga ccagatccaa gagcaagagc aggtcacagg gttccacacc ctcgctggag
     3841 ttcggcttcc ttccctctcc aactccgagg tagacttaga ggtgaagacc aactgacccc
     3901 ctctggtgag ccatctccag ccacagccag aagaaacaca gcatgtctgt ccccaagcca
     3961 gacttgcggt tggagtctgt atggtccctg cagcactgac cccagcaacc tctttctctt
     4021 gccctgggga atttgggaca cagaataaag gtgtttgccc aca
//
