LOCUS       NM_001245025             655 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens cilia and flagella associated protein 276 (CFAP276),
            transcript variant 1, mRNA.
ACCESSION   NM_001245025 XM_006710342
VERSION     NM_001245025.3
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 655)
  AUTHORS   Shen,Z., Li,M., He,F., Huang,C., Zheng,Y., Wang,Z., Ma,S., Chen,L.,
            Liu,Z., Zheng,H. and Xiong,F.
  TITLE     Intravenous Administration of an AAV9 Vector Ubiquitously
            Expressing C1orf194 Gene Improved CMT-Like Neuropathy in
            C1orf194-/- Mice
  JOURNAL   Neurotherapeutics 20 (6), 1835-1846 (2023)
   PUBMED   37843769
REFERENCE   2  (bases 1 to 655)
  AUTHORS   Gui,M., Croft,J.T., Zabeo,D., Acharya,V., Kollman,J.M.,
            Burgoyne,T., Hoog,J.L. and Brown,A.
  TITLE     SPACA9 is a lumenal protein of human ciliary singlet and doublet
            microtubules
  JOURNAL   Proc Natl Acad Sci U S A 119 (41), e2207605119 (2022)
   PUBMED   36191189
REFERENCE   3  (bases 1 to 655)
  AUTHORS   Huang,C., Shen,Z.R., Huang,J., Sun,S.C., Ma,D., Li,M.Y., Wang,Z.K.,
            Zheng,Y.C., Zheng,Z.J., He,F., Xu,X., Li,Z., Zheng,B.Y., Li,Y.M.,
            Xu,X.M. and Xiong,F.
  TITLE     C1orf194 deficiency leads to incomplete early embryonic lethality
            and dominant intermediate Charcot-Marie-Tooth disease in a knockout
            mouse model
  JOURNAL   Hum Mol Genet 29 (15), 2471-2480 (2020)
   PUBMED   32592472
  REMARK    GeneRIF: C1orf194 deficiency leads to incomplete early embryonic
            lethality and dominant intermediate Charcot-Marie-Tooth disease in
            a knockout mouse model.
            Erratum:[Hum Mol Genet. 2024 Jun 5;33(12):1105. doi:
            10.1093/hmg/ddae078.. PMID: 38668692]
REFERENCE   4  (bases 1 to 655)
  AUTHORS   Sun,S.C., Ma,D., Li,M.Y., Zhang,R.X., Huang,C., Huang,H.J.,
            Xie,Y.Z., Wang,Z.J., Liu,J., Cai,D.C., Liu,C.X., Yang,Q., Bao,F.X.,
            Gong,X.L., Li,J.R., Hui,Z., Wei,X.F., Zhong,J.M., Zhou,W.J.,
            Shang,X., Zhang,C., Liu,X.G., Tang,B.S., Xiong,F. and Xu,X.M.
  TITLE     Mutations in C1orf194, encoding a calcium regulator, cause dominant
            Charcot-Marie-Tooth disease
  JOURNAL   Brain 142 (8), 2215-2229 (2019)
   PUBMED   31199454
  REMARK    GeneRIF: the identification of two heterozygous missense mutations
            in the C1orf194 gene at 1p21.2-p13.2 with Charcot-Marie-Tooth
            disease are reported
            Erratum:[Brain. 2019 Oct 1;142(10):e56. doi: 10.1093/brain/awz237..
            PMID: 31359062]
REFERENCE   5  (bases 1 to 655)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL138933.18 and AL356488.22.
            
            On Feb 27, 2020 this sequence version replaced NM_001245025.2.
            
            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 :: BU570568.1, BU854028.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142348 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369948.8/ ENSP00000358964.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-149               AL138933.18        4821-4969           c
            150-266             AL356488.22        30557-30673         c
            267-382             AL356488.22        29643-29758         c
            383-507             AL356488.22        29171-29295         c
            508-655             AL356488.22        28587-28734         c
FEATURES             Location/Qualifiers
     source          1..655
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..655
                     /gene="CFAP276"
                     /gene_synonym="C10orf194; C1orf194"
                     /note="cilia and flagella associated protein 276"
                     /db_xref="GeneID:127003"
                     /db_xref="HGNC:HGNC:32331"
                     /db_xref="MIM:618682"
     exon            1..149
                     /gene="CFAP276"
                     /gene_synonym="C10orf194; C1orf194"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..578
                     /gene="CFAP276"
                     /gene_synonym="C10orf194; C1orf194"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncharacterized protein C1orf194; protein CFAP276"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 276
                     isoform 1"
                     /protein_id="NP_001231954.1"
                     /db_xref="CCDS:CCDS91016.1"
                     /db_xref="GeneID:127003"
                     /db_xref="HGNC:HGNC:32331"
                     /db_xref="MIM:618682"
                     /translation="MPPTRDPFQQPTLDNDDSYLGELRASKKLPYKNPTHLAQQQEPW
                     SRLNSTPTITSMRRDAYYFDPEIPKDDLDFRLAALYNHHTGTFKNKSEILLNQKTTQD
                     TYRTKIQFPGEFLTPPTPPITFLANIRHWINPKKESIHSIQGSIVSPHTAATNGGYSR
                     KKDGGFFST"
     exon            150..266
                     /gene="CFAP276"
                     /gene_synonym="C10orf194; C1orf194"
                     /inference="alignment:Splign:2.1.0"
     exon            267..382
                     /gene="CFAP276"
                     /gene_synonym="C10orf194; C1orf194"
                     /inference="alignment:Splign:2.1.0"
     exon            383..507
                     /gene="CFAP276"
                     /gene_synonym="C10orf194; C1orf194"
                     /inference="alignment:Splign:2.1.0"
     exon            508..655
                     /gene="CFAP276"
                     /gene_synonym="C10orf194; C1orf194"
                     /inference="alignment:Splign:2.1.0"
     regulatory      631..636
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP276"
                     /gene_synonym="C10orf194; C1orf194"
                     /note="hexamer: ATTAAA"
     regulatory      635..640
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP276"
                     /gene_synonym="C10orf194; C1orf194"
                     /note="hexamer: AATAGA"
     polyA_site      651
                     /gene="CFAP276"
                     /gene_synonym="C10orf194; C1orf194"
                     /note="major polyA site"
     polyA_site      655
                     /gene="CFAP276"
                     /gene_synonym="C10orf194; C1orf194"
                     /note="major polyA site"
ORIGIN      
        1 atgccagtga ggctgtgctg cggctgagcg ggcctcccat ccctcttaaa agagttaggc
       61 atttagccat gcctcccacc cgggaccctt tccagcagcc tacattagat aacgatgatt
      121 cctacttagg agaactgcgg gcttccaaga aattgccata taagaaccca acacaccttg
      181 ctcagcagca ggaaccctgg agtcggctca actcaacccc cacaattact tccatgaggc
      241 gggatgccta ctattttgat cccgagatac caaaggatga cctggacttc cgcttagcag
      301 ccttgtacaa ccaccacact gggacattca agaacaaaag tgagatactg ttaaaccaga
      361 aaaccacgca ggatacctat agaaccaaga tccaattccc tggagaattt ttaacccctc
      421 ccactccacc catcactttc ctggctaaca tcagacactg gatcaaccct aaaaaggagt
      481 ccatccacag catccaagga tccatagtgt cccctcacac tgcagccacc aatggaggct
      541 actcccgaaa gaaagatggt ggcttcttct ccacctagtg ttgacagatc cctgaactaa
      601 ttatagtgaa acatactgcg gcccacttcc attaaataga tttgtgcaag atgaa
//
