LOCUS       NM_001271049            2823 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 221 (CFAP221),
            transcript variant 1, mRNA.
ACCESSION   NM_001271049
VERSION     NM_001271049.2
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 2823)
  AUTHORS   Bustamante-Marin,X.M., Shapiro,A., Sears,P.R., Charng,W.L.,
            Conrad,D.F., Leigh,M.W., Knowles,M.R., Ostrowski,L.E. and
            Zariwala,M.A.
  TITLE     Identification of genetic variants in CFAP221 as a cause of primary
            ciliary dyskinesia
  JOURNAL   J Hum Genet 65 (2), 175-180 (2020)
   PUBMED   31636325
  REMARK    GeneRIF: These results show that genetic variants in CFAP221 cause
            Pprimary ciliary dyskinesia (PCD) and that CFAP221 should be
            considered a candidate gene in cases where PCD is suspected but
            cilia structure and beat frequency appear normal.
REFERENCE   2  (bases 1 to 2823)
  AUTHORS   Lee,J.H., Cho,M.H., Hersh,C.P., McDonald,M.L., Crapo,J.D.,
            Bakke,P.S., Gulsvik,A., Comellas,A.P., Wendt,C.H., Lomas,D.A.,
            Kim,V. and Silverman,E.K.
  CONSRTM   COPDGene and ECLIPSE Investigators
  TITLE     Genetic susceptibility for chronic bronchitis in chronic
            obstructive pulmonary disease
  JOURNAL   Respir Res 15 (1), 113 (2014)
   PUBMED   25241909
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2823)
  AUTHORS   DiPetrillo,C.G. and Smith,E.F.
  TITLE     Pcdp1 is a central apparatus protein that binds Ca(2+)-calmodulin
            and regulates ciliary motility
  JOURNAL   J Cell Biol 189 (3), 601-612 (2010)
   PUBMED   20421426
REFERENCE   4  (bases 1 to 2823)
  AUTHORS   Lesch,K.P., Timmesfeld,N., Renner,T.J., Halperin,R., Roser,C.,
            Nguyen,T.T., Craig,D.W., Romanos,J., Heine,M., Meyer,J.,
            Freitag,C., Warnke,A., Romanos,M., Schafer,H., Walitza,S., Reif,A.,
            Stephan,D.A. and Jacob,C.
  TITLE     Molecular genetics of adult ADHD: converging evidence from
            genome-wide association and extended pedigree linkage studies
  JOURNAL   J Neural Transm (Vienna) 115 (11), 1573-1585 (2008)
   PUBMED   18839057
REFERENCE   5  (bases 1 to 2823)
  AUTHORS   Lee,L., Campagna,D.R., Pinkus,J.L., Mulhern,H., Wyatt,T.A.,
            Sisson,J.H., Pavlik,J.A., Pinkus,G.S. and Fleming,M.D.
  TITLE     Primary ciliary dyskinesia in mice lacking the novel ciliary
            protein Pcdp1
  JOURNAL   Mol Cell Biol 28 (3), 949-957 (2008)
   PUBMED   18039845
  REMARK    GeneRIF: plays an important role in ciliary and flagellar
            biogenesis and motility sperm flagella and the cilia of respiratory
            epithelial cells and brain ependymal cells in both mice and humans
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013275.8, AC104817.4 and AC069154.5.
            
            On Nov 22, 2018 this sequence version replaced NM_001271049.1.
            
            Transcript Variant: This variant (1) encodes the supported protein.
            This variant lacks full-length human transcript support; its exon
            combination is inferred from orthologous transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.39247.1,
                                           SRR1803615.167715.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000413369.8/ ENSP00000393222.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                AC013275.8         137753-137814
            63-248              AC013275.8         139389-139574
            249-349             AC013275.8         142389-142489
            350-436             AC013275.8         152993-153079
            437-535             AC013275.8         153232-153330
            536-636             AC013275.8         155318-155418
            637-740             AC104817.4         7601-7704
            741-900             AC069154.5         4770-4929
            901-1021            AC069154.5         8224-8344
            1022-1133           AC069154.5         8428-8539
            1134-1242           AC069154.5         8733-8841
            1243-1330           AC069154.5         12054-12141
            1331-1420           AC069154.5         15205-15294
            1421-1519           AC069154.5         19163-19261
            1520-1625           AC069154.5         29135-29240
            1626-1759           AC069154.5         31205-31338
            1760-1840           AC069154.5         33427-33507
            1841-1948           AC069154.5         34122-34229
            1949-2083           AC069154.5         34319-34453
            2084-2242           AC069154.5         41811-41969
            2243-2334           AC069154.5         43333-43424
            2335-2427           AC069154.5         50510-50602
            2428-2523           AC069154.5         55526-55621
            2524-2823           AC069154.5         59914-60213
FEATURES             Location/Qualifiers
     source          1..2823
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.2"
     gene            1..2823
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /note="cilia and flagella associated protein 221"
                     /db_xref="GeneID:200373"
                     /db_xref="HGNC:HGNC:33720"
                     /db_xref="MIM:618704"
     exon            1..62
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            63..248
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..2632
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /note="primary ciliary dyskinesia protein 1; primary
                     ciliary dyskinesia 1 homolog; flagellar associated protein
                     221 homolog"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 221"
                     /protein_id="NP_001257978.2"
                     /db_xref="CCDS:CCDS33282.2"
                     /db_xref="GeneID:200373"
                     /db_xref="HGNC:HGNC:33720"
                     /db_xref="MIM:618704"
                     /translation="MAVVKTPSRGLKNAKEPFNNASPHLLKNLVEEPKKRKEVPNHLL
                     ESKVYAKLVNNKVIQARPGIIHFGGYQVEKQHQQILHLVNVSNEDTRVHILPPQTKYF
                     EINYVRKEHHLVPGLSLTVTVTFSPDEWRYYYDCIRVHCKGDDTLLVPIHAYPVMNSL
                     DFPSFINLSNVLLGESKTYVIPLQCSCPVDFEFYITLIQSHQAFAIEPTSGIIPANGK
                     MTVTIKFTPFQYGTAQIKMQLWISQFNSQPYECVFTGTCYPNMALPLEEFERLNTLSK
                     KVNVPPEKAMMHINFHRPPAKPKPQKVKEIEYQNLRFPVDLSNPFAVATVLNQEPGKL
                     KIKELREVLDQGTEISKTRQMKEALFEQKVRQDIHEEMENHLKWQVHLGKDPMSFKLK
                     KELTEEWQKACAKYKLDRGDPILDEEFQRLKTEVSHKRVVRNQEEKIKEFHPTFDPLI
                     NNTWLSRSRAQKRFQQVARKVMIQGRLFNMLSAVREMDKESILRKIGQAKQSIAQEAN
                     FFKFFLRRISQDDYTSRFSVSPKEVLPFAFPDCSPPQDSNELAPDGLGLVPIKSSEVQ
                     IKQSYSFFNLQVPQLYKIKRYQPFSVHKSSTSYRPQKLARALKQGAEDEVTTITALPK
                     QDSTTQLSGKTSVLSMKPPEALAMSLDYDPLYVFNPNPGLFAVMHPLTYAETLIDYHL
                     CSHPKYKFTKESRHGSSIPVTQKQFLHHTDIIPGIMHWKSFQSLVLSSLPDPSKMETT
                     KSCDSFNSFMLPIDVPAILDALPEEDRLETVERELCEQNVEVMLTPEMIKVEFPMLNY
                     KDIRKEKEVKDQAQPAEKAGEKLLEEMRNLRGKALNTYLILE"
     exon            249..349
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            350..436
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            437..535
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            536..636
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            637..740
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            741..900
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            901..1021
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1133
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1242
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1330
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..1420
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1519
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1520..1625
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1626..1759
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1760..1840
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1841..1948
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1949..2083
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2084..2242
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2243..2334
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2335..2427
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2428..2523
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2524..2823
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2800..2805
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /note="hexamer: AATAAA"
     polyA_site      2823
                     /gene="CFAP221"
                     /gene_synonym="FAP221; PCDP1"
                     /note="major polyA site"
ORIGIN      
        1 gacgctccga gcgggcgccg gcgctggcgc cggccgaatc cggcccggga accacctcca
       61 gggacatgac ctttggctct aaaaagaaga ctccattttt catgataaaa tggcagtggt
      121 gaaaaccccc agcagaggac taaagaatgc taaagaaccc tttaataatg catcacccca
      181 tctcttgaag aacctagtgg aggagccgaa aaaaagaaaa gaagtaccta atcacctcct
      241 agaatcaaag gtttatgcaa aacttgtgaa taataaggtc atacaggcaa gacctggcat
      301 aatacatttt ggaggctatc aagtagaaaa acaacaccaa cagattctgc atctggtcaa
      361 tgtttccaat gaagacacac gtgttcatat tttacccccg caaaccaaat actttgagat
      421 caattatgta agaaaggaac accacctggt ccctggcttg tccctcacgg tcaccgttac
      481 attttctcca gatgagtggc gatactatta tgactgcatc cgtgttcact gtaagggaga
      541 tgacactttg cttgttccta ttcatgccta tccagtcatg aactcactag actttccttc
      601 atttataaat ctgtcaaatg ttctacttgg tgaaagcaaa acttatgtta ttcctttgca
      661 gtgcagctgc cctgtagatt ttgagtttta tatcaccttg attcagtctc atcaagcctt
      721 tgctattgag ccaacatcag gaataattcc ggctaatggg aagatgactg tgactattaa
      781 gtttacaccc tttcagtatg ggactgcaca aataaaaatg cagttatgga tttcgcagtt
      841 caactctcaa ccatacgaat gtgtcttcac cggaacatgc tatcccaaca tggccttacc
      901 attagaagag tttgaaaggt tgaataccct ttctaagaaa gtaaacgttc ctccagaaaa
      961 agcaatgatg catataaatt ttcaccgacc gccagcgaag ccgaagcctc agaaggtgaa
     1021 ggaaattgag taccagaacc tcagatttcc agtagattta tcgaatccat ttgctgtggc
     1081 aactgtttta aaccaagaac caggaaaatt gaagattaaa gaattaagag aagttttgga
     1141 ccagggcact gaaatttcaa aaacgagaca gatgaaggag gcactctttg aacagaaagt
     1201 cagacaggac attcacgaag agatggaaaa tcatcttaag tggcaggtgc accttggtaa
     1261 agatcctatg tcttttaaac ttaaaaaaga gcttactgaa gagtggcaaa aagcatgtgc
     1321 caaatataag ctagacagag gagatcctat tttggatgag gaatttcagc gacttaaaac
     1381 agaagttagc cataaacggg ttgttcgcaa tcaagaagag aaaatcaagg aatttcatcc
     1441 tacttttgat ccactcatta ataacacttg gctcagcagg tccagggcac aaaaacggtt
     1501 tcaacaagta gcacgcaagg tcatgattca gggacgatta ttcaatatgc tgagtgctgt
     1561 tcgtgaaatg gacaaagaga gtatactgag aaagattggc caagcaaaac aatcgatagc
     1621 acaagaggcg aatttcttca aattcttcct gaggcggatc agtcaggatg attataccag
     1681 ccggttctct gtgtcgccca aggaggtgct gcccttcgct ttcccagact gcagcccacc
     1741 ccaggactcc aacgagttgg ctcctgatgg ccttggactg gtcccaatta agtcttcaga
     1801 agttcaaatc aagcagagtt attccttctt caatctgcag gttcctcaac tgtacaaaat
     1861 taagagatat cagccattct ctgtccacaa gtcttcaaca agttacagac ctcaaaagct
     1921 tgcccgagcc ctaaagcaag gagctgagga tgaagtcacc accatcacag cccttccgaa
     1981 acaggactcc acaactcagc tctctggcaa aacatcagtc ttgagcatga aaccacctga
     2041 ggccttagcc atgtctctag attatgatcc tctgtatgtt tttaatccca acccaggatt
     2101 atttgctgta atgcatcctc tgacctatgc agaaacgttg atagattacc atctatgctc
     2161 tcaccccaag tacaaattca ccaaagagtc ccgccacggg tccagcattc ctgtcaccca
     2221 aaagcagttt ctccatcaca cggacattat tcccggaata atgcactgga aaagcttcca
     2281 gtccctggtt ctctcctccc tgccggaccc ctccaagatg gagaccacaa agagctgcga
     2341 ttccttcaat tcatttatgc ttccgataga cgtccctgcc atccttgatg ccttaccaga
     2401 agaggacaga ctagaaacag tagaacgtga gctctgtgag cagaatgtag aagttatgtt
     2461 gactccagaa atgatcaaag tggaattccc tatgttgaac tacaaggaca tcaggaagga
     2521 gaaagaagtg aaagatcaag cacaaccagc agagaaggcc ggagagaagc tgctcgagga
     2581 gatgaggaac ctgcggggca aagcactcaa cacatacctg attctagaat gaaagtcacc
     2641 agtaggtcag tcccttccat ttgctttccg tgggccactg tggccccttg cgtccattta
     2701 catgccagcc atctctgcaa ttaaagtttc tggataaaaa aatgaaatgt agaggatgta
     2761 tatatctttt aagtgataat tataaatctt atatttaaaa ataaaatgga gttaggatga
     2821 tga
//
