LOCUS       NM_001101376             536 bp    mRNA    linear   PRI 27-FEB-2025
DEFINITION  Homo sapiens cilia and flagella associated protein 144 (CFAP144),
            mRNA.
ACCESSION   NM_001101376 XM_496360 XM_942137
VERSION     NM_001101376.3
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 536)
  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   2  (bases 1 to 536)
  AUTHORS   Patir,A., Fraser,A.M., Barnett,M.W., McTeir,L., Rainger,J.,
            Davey,M.G. and Freeman,T.C.
  TITLE     The transcriptional signature associated with human motile cilia
  JOURNAL   Sci Rep 10 (1), 10814 (2020)
   PUBMED   32616903
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 536)
  AUTHORS   McSherry,M., Masih,K.E., Elcioglu,N.H., Celik,P., Balci,O.,
            Cengiz,F.B., Nunez,D., Sineni,C.J., Seyhan,S., Kocaoglu,D., Guo,S.,
            Duman,D., Bademci,G. and Tekin,M.
  TITLE     Identification of candidate gene FAM183A and novel pathogenic
            variants in known genes: High genetic heterogeneity for autosomal
            recessive intellectual disability
  JOURNAL   PLoS One 13 (11), e0208324 (2018)
   PUBMED   30500859
  REMARK    GeneRIF: Whole exome sequencing revealed a nonsense variant
            (c.377G>A; p.W126*) in FAM183A, a novel candidate gene for
            autosomal recessive intellectual disability.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139138.17, AI192630.1 and AI375550.1.
            
            On Nov 24, 2018 this sequence version replaced NM_001101376.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AI375550.1, AI192630.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335282.5/ ENSP00000334415.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AL139138.17        37831-37849
            20-127              AL139138.17        37850-37957
            128-191             AI192630.1         345-408             c
            192-249             AI375550.1         301-358             c
            250-535             AI192630.1         1-286               c
            536-536             AI375550.1         14-14               c
FEATURES             Location/Qualifiers
     source          1..536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..536
                     /gene="CFAP144"
                     /gene_synonym="FAM183A"
                     /note="cilia and flagella associated protein 144"
                     /db_xref="GeneID:440585"
                     /db_xref="HGNC:HGNC:34347"
                     /db_xref="MIM:621114"
     exon            1..181
                     /gene="CFAP144"
                     /gene_synonym="FAM183A"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..453
                     /gene="CFAP144"
                     /gene_synonym="FAM183A"
                     /note="hCG23177; protein FAM183A; family with sequence
                     similarity 183 member A"
                     /codon_start=1
                     /product="cilia- and flagella-associated protein 144"
                     /protein_id="NP_001094846.2"
                     /db_xref="CCDS:CCDS44126.1"
                     /db_xref="GeneID:440585"
                     /db_xref="HGNC:HGNC:34347"
                     /db_xref="MIM:621114"
                     /translation="MAGHPKEKVIPDEVHQNQILRELYLKELRTQKLYTQYHVNPLRK
                     IHTVTRKPMSWHDNLEEPADARFLNLIHHAAQGPRKKYPETQTENQEVGWDLEPLINP
                     ERHDRRLNHFRVCSDITLYKAKTWGLGDDHHK"
     exon            182..241
                     /gene="CFAP144"
                     /gene_synonym="FAM183A"
                     /inference="alignment:Splign:2.1.0"
     exon            242..345
                     /gene="CFAP144"
                     /gene_synonym="FAM183A"
                     /inference="alignment:Splign:2.1.0"
     exon            346..536
                     /gene="CFAP144"
                     /gene_synonym="FAM183A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      513..518
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFAP144"
                     /gene_synonym="FAM183A"
                     /note="hexamer: AATAAA"
     polyA_site      536
                     /gene="CFAP144"
                     /gene_synonym="FAM183A"
                     /note="major polyA site"
ORIGIN      
        1 ggagactgtg gaaggcccag gcaagagggc gcgtggcagc ccaaggccat ggcgggacac
       61 ccaaaagaga aggtgattcc agatgaggtc catcagaacc agatcttgcg ggaactgtac
      121 ctcaaggagc tacgaaccca gaaactctac acgcagtatc acgtgaatcc cctccgcaag
      181 attcatacag tcaccaggaa gcccatgtct tggcatgata acctggagga acctgcagat
      241 gccaggtttc tgaatctcat tcaccatgct gcccagggac caaggaagaa gtacccagag
      301 acacagactg aaaaccagga agttggatgg gacttagagc ccttgatcaa cccagaacgc
      361 catgaccgca ggctgaatca cttcagggtc tgcagtgaca tcactctgta caaggctaaa
      421 acgtggggct taggagatga tcaccacaag tagcatccca gcggatgagc ccatctgtgg
      481 atctaatgcc ttaagtgtgc acagcccaga gaaataaaat actactttaa aacgaa
//
