LOCUS       NM_001013625             774 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens cilia and flagella associated protein 126 (CFAP126),
            mRNA.
ACCESSION   NM_001013625 XM_170909
VERSION     NM_001013625.4
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 774)
  AUTHORS   Arshad,K., Naseem,A., Hussain,S.S., Mehak,N.U., Butt,A.M.,
            Aftab,S., Saeed,A. and Cheema,H.A.
  TITLE     Diabetes and CFAP126 gene mutation; are they really linked
            together?
  JOURNAL   J Pediatr Endocrinol Metab 37 (10), 912-915 (2024)
   PUBMED   39165147
  REMARK    GeneRIF: Diabetes and CFAP126 gene mutation; are they really linked
            together?
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 774)
  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 774)
  AUTHORS   Gegg,M., Bottcher,A., Burtscher,I., Hasenoeder,S., Van
            Campenhout,C., Aichler,M., Walch,A., Grant,S.G. and Lickert,H.
  TITLE     Flattop regulates basal body docking and positioning in mono- and
            multiciliated cells
  JOURNAL   Elife 3, e03842 (2014)
   PUBMED   25296022
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 774)
  AUTHORS   Maeda,M.H., Mitsui,J., Soong,B.W., Takahashi,Y., Ishiura,H.,
            Hayashi,S., Shirota,Y., Ichikawa,Y., Matsumoto,H., Arai,M.,
            Okamoto,T., Miyama,S., Shimizu,J., Inazawa,J., Goto,J. and Tsuji,S.
  TITLE     Increased gene dosage of myelin protein zero causes
            Charcot-Marie-Tooth disease
  JOURNAL   Ann Neurol 71 (1), 84-92 (2012)
   PUBMED   22275255
REFERENCE   5  (bases 1 to 774)
  AUTHORS   Kim,J.M., Lee,K.H., Jeon,Y.J., Oh,J.H., Jeong,S.Y., Song,I.S.,
            Kim,J.M., Lee,D.S. and Kim,N.S.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL592295.25.
            
            On Aug 1, 2019 this sequence version replaced NM_001013625.3.
            
            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 :: EB385452.1, DT215043.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367974.2/ ENSP00000356951.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                AL592295.25        91510-91544         c
            36-98               AL592295.25        90107-90169         c
            99-179              AL592295.25        89866-89946         c
            180-356             AL592295.25        89194-89370         c
            357-774             AL592295.25        88401-88818         c
FEATURES             Location/Qualifiers
     source          1..774
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..774
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /note="cilia and flagella associated protein 126"
                     /db_xref="GeneID:257177"
                     /db_xref="HGNC:HGNC:32325"
                     /db_xref="MIM:616119"
     exon            1..35
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /inference="alignment:Splign:2.1.0"
     CDS             9..542
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /note="UPF0740 protein C1orf192"
                     /codon_start=1
                     /product="protein Flattop"
                     /protein_id="NP_001013647.2"
                     /db_xref="CCDS:CCDS30921.1"
                     /db_xref="GeneID:257177"
                     /db_xref="HGNC:HGNC:32325"
                     /db_xref="MIM:616119"
                     /translation="MATNYSANQYEKAFSSKYLQNWSPTKPTKESISSHEGYTQIIAN
                     DRGHLLPSVPRSKANPWGSFMGTWQMPLKIPPARVTLTSRTTAGAASLTKWIQKNPDL
                     LKASNGLCPEILGKPHDPDSQKKLRKKSITKTVQQARSPTIIPSSPAANLNSPDELQS
                     SHPSAGHTPGPQRPAKS"
     exon            36..98
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /inference="alignment:Splign:2.1.0"
     exon            99..179
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /inference="alignment:Splign:2.1.0"
     exon            180..356
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /inference="alignment:Splign:2.1.0"
     exon            357..774
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /inference="alignment:Splign:2.1.0"
     regulatory      749..754
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /note="hexamer: AATAAA"
     polyA_site      774
                     /gene="CFAP126"
                     /gene_synonym="C1orf192; Flattop; Fltp"
                     /note="major polyA site"
ORIGIN      
        1 acaagatcat ggccactaac tacagtgcca accagtatga aaaggctttc tcatccaagt
       61 atctgcagaa ctggtctccc actaagccaa caaaagagag catctcttct catgaaggct
      121 acactcaaat tattgccaac gatcgtggtc atctactgcc ttctgtgccc cgttccaagg
      181 caaatccttg gggttccttc atgggcacct ggcaaatgcc tctgaagata ccccctgctc
      241 gggtgaccct gacctcccgt acaactgctg gtgctgcctc cctcaccaaa tggatacaga
      301 aaaatcctga tttactcaag gcctccaatg ggctgtgtcc tgaaatctta ggcaagcccc
      361 atgatccaga cagtcagaag aaactcagaa agaagtctat cacaaagact gtacaacaag
      421 cacgaagtcc aaccataatt ccaagctccc cagctgccaa cctcaattcc ccagatgaac
      481 tccaaagctc acacccctct gcaggtcata ctccaggtcc ccaaagacca gccaaatcct
      541 aagagcccac ctggaagtcc acgtatgcta gaactctggg cagggcctaa tctagctgag
      601 gtccagaaat acaaacctgg aacttcatat ggaccaagtg gccacacact gaaaaacccg
      661 tatagcgact cagtgaaata aacaagagcc cccagtcaga actgtgaaac agggaaattt
      721 tggggtggga gtaaaagcaa atttggaaaa taaacttttt tttgttgaat cttt
//
