LOCUS       NM_017586               2803 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens calcium channel flower domain containing 1 (CACFD1),
            transcript variant 1, mRNA.
ACCESSION   NM_017586
VERSION     NM_017586.5
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 2803)
  AUTHORS   Rudd,J.C., Maity,S., Grunkemeyer,J.A., Snyder,J.C., Lovas,S. and
            Hansen,L.A.
  TITLE     Membrane structure and internalization dynamics of human Flower
            isoforms hFWE3 and hFWE4 indicate a conserved endocytic role for
            hFWE4
  JOURNAL   J Biol Chem 299 (8), 104945 (2023)
   PUBMED   37348560
  REMARK    GeneRIF: Membrane structure and internalization dynamics of human
            Flower isoforms hFWE3 and hFWE4 indicate a conserved endocytic role
            for hFWE4.
REFERENCE   2  (bases 1 to 2803)
  AUTHORS   Querin,G., Biferi,M.G. and Pradat,P.F.
  TITLE     Biomarkers for C9orf7-ALS in Symptomatic and Pre-symptomatic
            Patients: State-of-the-art in the New Era of Clinical Trials
  JOURNAL   J Neuromuscul Dis 9 (1), 25-37 (2022)
   PUBMED   34864683
  REMARK    GeneRIF: Biomarkers for C9orf7-ALS in Symptomatic and
            Pre-symptomatic Patients: State-of-the-art in the New Era of
            Clinical Trials.
            Review article
REFERENCE   3  (bases 1 to 2803)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2803)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   5  (bases 1 to 2803)
  AUTHORS   Yao,C.K., Lin,Y.Q., Ly,C.V., Ohyama,T., Haueter,C.M.,
            Moiseenkova-Bell,V.Y., Wensel,T.G. and Bellen,H.J.
  TITLE     A synaptic vesicle-associated Ca2+ channel promotes endocytosis and
            couples exocytosis to endocytosis
  JOURNAL   Cell 138 (5), 947-960 (2009)
   PUBMED   19737521
REFERENCE   6  (bases 1 to 2803)
  AUTHORS   Yuan,X., Waterworth,D., Perry,J.R., Lim,N., Song,K., Chambers,J.C.,
            Zhang,W., Vollenweider,P., Stirnadel,H., Johnson,T., Bergmann,S.,
            Beckmann,N.D., Li,Y., Ferrucci,L., Melzer,D., Hernandez,D.,
            Singleton,A., Scott,J., Elliott,P., Waeber,G., Cardon,L.,
            Frayling,T.M., Kooner,J.S. and Mooser,V.
  TITLE     Population-based genome-wide association studies reveal six loci
            influencing plasma levels of liver enzymes
  JOURNAL   Am J Hum Genet 83 (4), 520-528 (2008)
   PUBMED   18940312
REFERENCE   7  (bases 1 to 2803)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   8  (bases 1 to 2803)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB165724.1, BC030558.1, AL593848.15 and AA436195.1.
            
            On May 21, 2020 this sequence version replaced NM_017586.4.
            
            Transcript Variant: This variant (1) lacks an alternate exon
            compared to variant 3. The resulting isoform (a) has a shorter and
            distinct C-terminus, compared to isoform c.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074852.1, AK075548.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316948.9/ ENSP00000317121.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DB165724.1         14-34
            22-262              BC030558.1         1-241
            263-263             AL593848.15        115050-115050
            264-1742            BC030558.1         243-1721
            1743-1743           AL593848.15        121303-121303
            1744-2173           BC030558.1         1723-2152
            2174-2181           AL593848.15        121734-121741
            2182-2712           BC030558.1         2153-2683
            2713-2742           AA436195.1         12-41               c
            2743-2803           AL593848.15        122303-122363
FEATURES             Location/Qualifiers
     source          1..2803
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     gene            1..2803
                     /gene="CACFD1"
                     /gene_synonym="C9orf7; D9S2135; FLOWER"
                     /note="calcium channel flower domain containing 1"
                     /db_xref="GeneID:11094"
                     /db_xref="HGNC:HGNC:1365"
                     /db_xref="MIM:613104"
     exon            1..210
                     /gene="CACFD1"
                     /gene_synonym="C9orf7; D9S2135; FLOWER"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..608
                     /gene="CACFD1"
                     /gene_synonym="C9orf7; D9S2135; FLOWER"
                     /note="isoform a is encoded by transcript variant 1;
                     calcium channel flower homolog; calcium channel flower
                     domain-containing protein 1"
                     /codon_start=1
                     /product="calcium channel flower homolog isoform a"
                     /protein_id="NP_060056.1"
                     /db_xref="CCDS:CCDS6974.1"
                     /db_xref="GeneID:11094"
                     /db_xref="HGNC:HGNC:1365"
                     /db_xref="MIM:613104"
                     /translation="MSSSGGAPGASASSAPPAQEEGMTWWYRWLCRLSGVLGAVSCAI
                     SGLFNCITIHPLNIAAGVWMIMNAFILLLCEAPFCCQFIEFANTVAEKVDRLRSWQKA
                     VFYCGMAVVPIVISLTLTTLLGNAIAFATGVLYGLSALGKKGDAISYARIQQQRQQAD
                     EEKLAETLEGEL"
     exon            211..283
                     /gene="CACFD1"
                     /gene_synonym="C9orf7; D9S2135; FLOWER"
                     /inference="alignment:Splign:2.1.0"
     exon            284..409
                     /gene="CACFD1"
                     /gene_synonym="C9orf7; D9S2135; FLOWER"
                     /inference="alignment:Splign:2.1.0"
     exon            410..517
                     /gene="CACFD1"
                     /gene_synonym="C9orf7; D9S2135; FLOWER"
                     /inference="alignment:Splign:2.1.0"
     exon            518..2803
                     /gene="CACFD1"
                     /gene_synonym="C9orf7; D9S2135; FLOWER"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2695..2700
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACFD1"
                     /gene_synonym="C9orf7; D9S2135; FLOWER"
                     /note="hexamer: AATAAA"
     polyA_site      2739
                     /gene="CACFD1"
                     /gene_synonym="C9orf7; D9S2135; FLOWER"
                     /note="major polyA site"
ORIGIN      
        1 ccctctccca caaggcagcg cgccggctcg gacgcggccg gctaccgagc cctttgtgag
       61 ggctgtgagc tgcgcctgac ggtggcacca tgagcagctc aggtggggcg cccggggcgt
      121 ccgccagctc tgcgccgccc gcgcaggaag agggcatgac gtggtggtac cgctggctgt
      181 gtcgcctgtc tggggtgctg ggggcagtct cttgcgcgat ctctggcctc ttcaactgca
      241 tcaccatcca ccctctgaac attgcggccg gcgtgtggat gatcatgaat gccttcatct
      301 tgttgctgtg tgaggcgccc ttctgctgcc agttcatcga gtttgcaaac acagtggcgg
      361 agaaggtgga ccggctgcgc tcctggcaga aggctgtctt ctactgcggg atggcggtcg
      421 ttcccatcgt catcagcctg accctgacca cgctgctggg caacgccatc gcctttgcta
      481 cgggggtgct gtacggactc tctgctctgg gcaaaaaggg cgatgcgatc tcctatgcca
      541 ggatccagca gcagaggcag caggcggatg aggagaagct cgcggagacc ctggaggggg
      601 agctgtgaag ggctgggcgc ccctccctcc ctgtcccctc ttctggctct gtgtgggtcc
      661 aagtgaggcc tggactgtcc acgctgaggc acagcctgga gaggggcctt tgcacgtgtc
      721 cctacacctg gagtcctctg ctcctttctc cagactggct taagccagga gccactggct
      781 gctggtgtga gggtctgggc tgctggactt gaggcagagc ctgcagcagc tgtgtggaca
      841 ctacccagcc ctactcctct gctgggtggg tctgcagatc tcacaccaca gacagggctg
      901 cctgtgacct gctgtgacct gggagcagct tcccctggag atgctggtcc tggcttgagg
      961 ggaggggcaa gtgggaccct gccacctggg cactgagcag agggacctcc cccagctctc
     1021 ttagcaggtg gagccccagg gcctgggaca gcctgccgct gccagcaacc tcccactgct
     1081 gcctagggtg cagcgcccac tgtcaccctg ccttctgaag aagcccacag ggctcctaag
     1141 gtgcaccccg gtacctggaa ctgcagcctt ggcagtgact ggacagctgg gtgggggatg
     1201 ctccctgctg gccctgggaa ccttggacag gccacctcaa ggcccctcgg ctgcccctcc
     1261 tccctgggcc tgctggggcc cctaggttct gcccatcacc ccccgcccct gctggccttg
     1321 gtgctaagga agtggggaga gcaggctctc cctggcaccg agggtgccca ccctctccct
     1381 ggtgtggccc cgtcaacatc agccacagcc cagccccatt agtgggttag tgggtctgac
     1441 ctcagcccca ctcaggtgct cctgctggcc tgcccaagcc ctgccctcag ggagcttctg
     1501 ccttttaaga actgggcaga ggccacagtc acctccccac acagagctgt ccccactgcc
     1561 ctgggtgcca ggctgtccgg agccaggcct acccagggag gatgcagaga gctggtgccc
     1621 aggatgtgca cccccatatt ccctctgccc tgtggcctca gcccgctggc ctctctgacc
     1681 gtgaggctgg ctctcagcca tcgggcaggt gcctggtcgg gcctggctta gcccaggtgg
     1741 ggtttggcag aagcgggcgg gtgtggaaga tattccatct ggggccaacc ccaggctggg
     1801 cctgcgctga gcttctggag cgcaggtact gggtcttgct aagtgaactg tttcccagga
     1861 acacctctcg ggcccatctg cgtctgaggc tgggagtggc atctgaggcc gggagtggca
     1921 tctgaggcca ggagtggcag gctggtgggc tgggcgtggg gttttctggg ccctgcccag
     1981 tactgccctg gggacttggt gggctcctgg gtcagcagca tcccacccct gggagtctgg
     2041 ccagctgagc cccagggtgg caggggcatt atagcctggt ggacatgtgc cttcagggtt
     2101 cctccggggc caccttcctc aggccagtgc tgggttcaaa gggctgtgtg tgtgtgtgtg
     2161 tgtgtgtgtg tgtgtgtgtg tatgtatatg tgtgtgggtg cacacatctg tcccatgtat
     2221 gcagtgagac ctgtctacct cccacaagga gcaagggctc tgcccgccct ctgctcattc
     2281 ctacccaggt agtgggaccc cgggccccct tctgcctggc ttgcctgctt ctgccctttc
     2341 cagaggggtc tcactgacag ccagagacag caggagaagg gttggctgtg gatcaaggaa
     2401 ggctgcccct gtaccctgtg gggaaatggt gggtgcatgg ctggatgcag aggtggaagg
     2461 ccctgggcca caggcgagag tgggcgtgtc acctgtccca ggttcccagc aagtctgcag
     2521 ctgtgcagtc ctggggtccc tgaccctgtc gcccaggggg cgtgctgtcc agcaggggcc
     2581 ctgccttgca aggaacgtct cttccggcgg ctgggccgct cctgcctggt ctgggctgtg
     2641 tgtggcgccc tttcctcctt gtttgttcct ctgtgttctg tgtgcgtctt aagcaataaa
     2701 gcgtggccgt ggctcgcgtg cctgccctct gctcccttct gccttggtgc ctgtgtgtga
     2761 gtgtggaagc caggcaggag ccgctggccc aggaaataac tac
//
