LOCUS       NM_004928               2221 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 410 (CFAP410),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_004928
VERSION     NM_004928.3
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 2221)
  AUTHORS   Zelina,P., de Ruiter,A.A., Kolsteeg,C., van Ginneken,I., Vos,H.R.,
            Supiot,L.F., Burgering,B.M.T., Meye,F.J., Veldink,J.H., van den
            Berg,L.H. and Pasterkamp,R.J.
  TITLE     ALS-associated C21ORF2 variant disrupts DNA damage repair,
            mitochondrial metabolism, neuronal excitability and NEK1 levels in
            human motor neurons
  JOURNAL   Acta Neuropathol Commun 12 (1), 144 (2024)
   PUBMED   39227882
  REMARK    GeneRIF: ALS-associated C21ORF2 variant disrupts DNA damage repair,
            mitochondrial metabolism, neuronal excitability and NEK1 levels in
            human motor neurons.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2221)
  AUTHORS   Stadler,A., De Liz,L.V., Gabriel,H.B., Alonso-Gil,S., Crickley,R.,
            Korbula,K., Zagrovic,B., Vaughan,S., Sunter,J.D. and Dong,G.
  TITLE     The C-terminus of CFAP410 forms a tetrameric helical bundle that is
            essential for its localization to the basal body
  JOURNAL   Open Biol 14 (9), 240128 (2024)
   PUBMED   39255848
  REMARK    GeneRIF: The C-terminus of CFAP410 forms a tetrameric helical
            bundle that is essential for its localization to the basal body.
REFERENCE   3  (bases 1 to 2221)
  AUTHORS   Gregorczyk,M., Pastore,G., Munoz,I., Carroll,T., Streubel,J.,
            Munro,M., Lis,P., Lange,S., Lamoliatte,F., Macartney,T., Toth,R.,
            Brown,F., Hastie,J., Pereira,G., Durocher,D. and Rouse,J.
  TITLE     Functional characterization of C21ORF2 association with the NEK1
            kinase mutated in human in diseases
  JOURNAL   Life Sci Alliance 6 (7), e202201740 (2023)
   PUBMED   37188479
  REMARK    GeneRIF: Functional characterization of C21ORF2 association with
            the NEK1 kinase mutated in human in diseases.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2221)
  AUTHORS   Chiu,N., Lee,W., Liu,P.K., Levi,S.R., Wang,H.H., Chen,N.,
            Kang,E.Y., Seo,G.H., Lee,H., Liu,L., Wu,W.C., Tsai,S.H. and
            Wang,N.K.
  TITLE     A homozygous in-frame duplication within the LRRCT consensus
            sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma
            and short stature
  JOURNAL   Ophthalmic Genet 43 (3), 378-384 (2022)
   PUBMED   34915818
REFERENCE   5  (bases 1 to 2221)
  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   6  (bases 1 to 2221)
  AUTHORS   Shim,K.S., Bergelson,J.M., Furuse,M., Ovod,V., Krude,T. and
            Lubec,G.
  TITLE     Reduction of chromatin assembly factor 1 p60 and C21orf2 protein,
            encoded on chromosome 21, in Down syndrome brain
  JOURNAL   J Neural Transm Suppl (67), 117-128 (2003)
   PUBMED   15068244
  REMARK    GeneRIF: Downregulated protein level of C21orf2 in adult brain of
            patients with Down syndrome (DS) in contrast to Alzheimer's disease
            indicates that it can be considered specific for changes in DS.
REFERENCE   7  (bases 1 to 2221)
  AUTHORS   Cheon,M.S., Kim,S.H., Ovod,V., Kopitar Jerala,N., Morgan,J.I.,
            Hatefi,Y., Ijuin,T., Takenawa,T. and Lubec,G.
  TITLE     Protein levels of genes encoded on chromosome 21 in fetal Down
            syndrome brain: challenging the gene dosage effect hypothesis (Part
            III)
  JOURNAL   Amino Acids 24 (1-2), 127-134 (2003)
   PUBMED   12624744
REFERENCE   8  (bases 1 to 2221)
  AUTHORS   Scott,H.S., Kyriakou,D.S., Peterson,P., Heino,M., Tahtinen,M.,
            Krohn,K., Chen,H., Rossier,C., Lalioti,M.D. and Antonarakis,S.E.
  TITLE     Characterization of a novel gene, C21orf2, on human chromosome
            21q22.3 and its exclusion as the APECED gene by mutation analysis
  JOURNAL   Genomics 47 (1), 64-70 (1998)
   PUBMED   9465297
REFERENCE   9  (bases 1 to 2221)
  AUTHORS   Krohn,K., Ovod,V., Vilja,P., Heino,M., Scott,H., Kyriakou,D.S.,
            Antonarakis,S., Jacobs,H.T., Isola,J. and Peterson,P.
  TITLE     Immunochemical characterization of a novel mitochondrially located
            protein encoded by a nuclear gene within the DFNB8/10 critical
            region on 21q22.3
  JOURNAL   Biochem Biophys Res Commun 238 (3), 806-810 (1997)
   PUBMED   9325172
REFERENCE   10 (bases 1 to 2221)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM761336.1, BC072012.1 and
            Y11392.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004928.2.
            
            Summary: Four alternatively spliced transcript variants encoding
            four different isoforms have been found for this nuclear gene. All
            isoforms contain leucine-rich repeats. Three of these isoforms are
            mitochondrial proteins and one of them lacks the target peptide, so
            is not located in mitochondrion. This gene is down-regulated in
            Down syndrome (DS) brain, which may represent mitochondrial
            dysfunction in DS patients. [provided by RefSeq, Sep 2012].
            
            Transcript Variant: This variant (1) encodes a mitochondrial
            protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Y11392.1, SRR3476690.1178763.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000339818.9/
                                                  ENSP00000344566.4
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                BM761336.1         13-27
            16-1276             BC072012.1         1-1261
            1277-2221           Y11392.1           1149-2093
FEATURES             Location/Qualifiers
     source          1..2221
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2221
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /note="cilia and flagella associated protein 410"
                     /db_xref="GeneID:755"
                     /db_xref="HGNC:HGNC:1260"
                     /db_xref="MIM:603191"
     exon            1..273
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             197..967
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nuclear encoded mitochondrial protein C21orf2; leucine
                     rich repeat containing 76; leucine-rich repeat-containing
                     protein 76; C21orf-HUMF09G8.5"
                     /codon_start=1
                     /product="nuclear encoded mitochondrial protein C21orf2
                     isoform 1"
                     /protein_id="NP_004919.1"
                     /db_xref="CCDS:CCDS13709.1"
                     /db_xref="GeneID:755"
                     /db_xref="HGNC:HGNC:1260"
                     /db_xref="MIM:603191"
                     /translation="MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEV
                     ITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGT
                     SPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
                     LSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLT
                     AILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE"
     exon            274..292
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /inference="alignment:Splign:2.1.0"
     exon            293..339
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /inference="alignment:Splign:2.1.0"
     exon            340..569
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /inference="alignment:Splign:2.1.0"
     exon            570..741
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /inference="alignment:Splign:2.1.0"
     exon            742..838
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /inference="alignment:Splign:2.1.0"
     exon            839..2221
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1253..1258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /note="hexamer: AATAAA"
     polyA_site      1274
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /note="major polyA site"
     regulatory      2198..2203
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
                     /note="hexamer: AGTAAA"
     polyA_site      2221
                     /gene="CFAP410"
                     /gene_synonym="C21orf2; LRRC76; RDMS; SMDAX; YF5/A2"
ORIGIN      
        1 agagccaacg tgtcagcggc gcccaagcgg ccccagcggg ctcgcgtcgc cccgctctcc
       61 tcaccgagcc gccaatcggc tcaggatccg cccctgacga cgcgggcccc gcccctggag
      121 acacgcgccg cgcagtcgtc acccgcccgg gatcaggagg ccgggggcgc ccgccggtcg
      181 ggcctgggcg gccgccatga agctgacgcg gaagatggtt ctgacccggg ccaaggcctc
      241 ggagctgcac agcgtgcgca agctcaactg ctggggcagc cgcctcacag atatctccat
      301 ttgccaggag atgcccagcc tggaggtgat cacgctcagt gtcaacagca tctccaccct
      361 ggagcctgtg agccggtgcc agcgcctgag tgagctgtac ctgcggagga accgcatccc
      421 cagcctggct gagctcttct acctgaaggg gctgccgcgt ctgcgggtgc tgtggctggc
      481 cgagaacccg tgctgcggca ccagccccca ccgctaccgc atgaccgtgc tgcgcaccct
      541 gccgcgccta cagaagctgg acaaccaggc tgtgacggag gaggagctgt cccgtgcact
      601 gagtgaggga gaggagatca ctgcggcccc agagagagag ggcacaggcc acggcggccc
      661 caagctatgc tgcacactga gctccctcag ctccgctgct gagactggcc gggacccgct
      721 ggacagcgag gaggaggcaa ccagcggcgc ccaggatgaa cgtggcctga agccgccttc
      781 ccggggccag tttccttccc tctcagccag ggatgcctcg agcagccaca ggggcaggaa
      841 cgtcctgact gccatcctgc tgctgctgcg ggagctggat gcagaggggc tggaggccgt
      901 gcagcagact gtgggcagcc ggctgcaggc cctgcgtggg gaagaggtgc aggagcacgc
      961 cgagtgaccg caggacctga acgccgctcc agcctccacg gggaccccag cgtcttcccc
     1021 agcccccggg agctggaggg tggctgccat ggccgcagcc ccggccccac acaaaagcct
     1081 ccccggtttg ccacatcggc cgagggcagg agtgggtgtt aggtactggc taaccggggc
     1141 ggtggagatg cctgtctaca ccagtcctgt ccccaggact ccccttctgt ggtctggagg
     1201 ttctaggctg gcctgggctc ttaaagggag gattttgcag gctgtcctcc ctaataaaag
     1261 attttcccaa ggttgatctg gaggtgacgt ttcccaaggc atggttgtga cagtcttcct
     1321 gaaagcaagg gccgtttctc cacagaatga ggaggtcttc acggatggct ttgccgattc
     1381 cagcccttgg tccttggata gatttctgtt gggcaaggga gacttcgaga atgctggcac
     1441 ccatagcgac atctgccctg agctgctcag caggcaggca gcagcctccc gcacccatgg
     1501 gagagagttt tgttttcttg gccgggctgg gcaggtgcgc cttcctttct ctctcctgtg
     1561 aagaactgca ggagggccct cagctgtgag gttgtggatg aacaggcctg ttcgccctgg
     1621 ggtccgggcc tggcacagga agcagctaga ctaggggagt ccttggagca tctgagaggg
     1681 gttttctttc ctctgggaag agtcgcaagt cttatgagga tgccacaatc tgggcagtga
     1741 cccgtggccc tggggacctt cctagtgccc cccaaaacca aggaagcatt cacgtgagat
     1801 ggggagtcag ccttccagct ggtgtgtagg aaagccaggt ccctgggccc ttgtcccatg
     1861 tggggttgag atccagatct ccatgagata ttcccatcct ccgccgagcg gtgatgcgtg
     1921 accgtgtgtg caggccgctg ttctcccaag ctcggggcca tgccgtgcca ccgtcaccag
     1981 agccagctgc agcactgggg cagccactgt cgccggactt ggggaagccc agggtgaaga
     2041 cagtcactca tccgtgcaag ctctccagaa gggatgcaag ctctccagaa ggggtgtgat
     2101 ctctgagcag tggggagtgg agtcaccact cgggacatag agggtggaca gttcaggcct
     2161 gtgtctgcct ccttgggact gtggagtggg tgccctcagt aaagcgcttt gttggaatgg
     2221 t
//
