LOCUS       NM_001168618            1562 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens intraflagellar transport 46 (IFT46), transcript
            variant 2, mRNA.
ACCESSION   NM_001168618
VERSION     NM_001168618.2
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 1562)
  AUTHORS   Katoh,Y., Terada,M., Nishijima,Y., Takei,R., Nozaki,S., Hamada,H.
            and Nakayama,K.
  TITLE     Overall Architecture of the Intraflagellar Transport (IFT)-B
            Complex Containing Cluap1/IFT38 as an Essential Component of the
            IFT-B Peripheral Subcomplex
  JOURNAL   J Biol Chem 291 (21), 10962-10975 (2016)
   PUBMED   26980730
REFERENCE   2  (bases 1 to 1562)
  AUTHORS   Boldt,K., van Reeuwijk,J., Lu,Q., Koutroumpas,K., Nguyen,T.M.,
            Texier,Y., van Beersum,S.E., Horn,N., Willer,J.R., Mans,D.A.,
            Dougherty,G., Lamers,I.J., Coene,K.L., Arts,H.H., Betts,M.J.,
            Beyer,T., Bolat,E., Gloeckner,C.J., Haidari,K., Hetterschijt,L.,
            Iaconis,D., Jenkins,D., Klose,F., Knapp,B., Latour,B.,
            Letteboer,S.J., Marcelis,C.L., Mitic,D., Morleo,M., Oud,M.M.,
            Riemersma,M., Rix,S., Terhal,P.A., Toedt,G., van Dam,T.J., de
            Vrieze,E., Wissinger,Y., Wu,K.M., Apic,G., Beales,P.L.,
            Blacque,O.E., Gibson,T.J., Huynen,M.A., Katsanis,N., Kremer,H.,
            Omran,H., van Wijk,E., Wolfrum,U., Kepes,F., Davis,E.E., Franco,B.,
            Giles,R.H., Ueffing,M., Russell,R.B. and Roepman,R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1562)
  AUTHORS   Follit,J.A., Xu,F., Keady,B.T. and Pazour,G.J.
  TITLE     Characterization of mouse IFT complex B
  JOURNAL   Cell Motil Cytoskeleton 66 (8), 457-468 (2009)
   PUBMED   19253336
REFERENCE   4  (bases 1 to 1562)
  AUTHORS   Gouttenoire,J., Valcourt,U., Bougault,C., Aubert-Foucher,E.,
            Arnaud,E., Giraud,L. and Mallein-Gerin,F.
  TITLE     Knockdown of the intraflagellar transport protein IFT46 stimulates
            selective gene expression in mouse chondrocytes and affects early
            development in zebrafish
  JOURNAL   J Biol Chem 282 (42), 30960-30973 (2007)
   PUBMED   17720815
  REMARK    GeneRIF: the ciliary protein IFT46 has a specific function in
            chondrocytes and is also essential for normal development of
            vertebrates.
REFERENCE   5  (bases 1 to 1562)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   6  (bases 1 to 1562)
  AUTHORS   O'Brien,K.P., Tapia-Paez,I., Stahle-Backdahl,M., Kedra,D. and
            Dumanski,J.P.
  TITLE     Characterization of five novel human genes in the 11q13-q22 region
  JOURNAL   Biochem Biophys Res Commun 273 (1), 90-94 (2000)
   PUBMED   10873569
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC022856.1 and AK289521.1.
            
            On Feb 27, 2020 this sequence version replaced NM_001168618.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region compared to variant 1. The encoded
            isoform (2) is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC011647.2, AL136934.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264021.8/ ENSP00000264021.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1557              BC022856.1         107-1663
            1558-1562           AK289521.1         1554-1558
FEATURES             Location/Qualifiers
     source          1..1562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..1562
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /note="intraflagellar transport 46"
                     /db_xref="GeneID:56912"
                     /db_xref="HGNC:HGNC:26146"
                     /db_xref="MIM:620506"
     exon            1..142
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     exon            143..239
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     exon            240..319
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     CDS             275..1189
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /note="isoform 2 is encoded by transcript variant 2;
                     UPF0360; intraflagellar transport protein IFT46;
                     intraflagellar transport protein 46 homolog;
                     intraflagellar transport 46 homolog; cilia and flagella
                     associated protein 32"
                     /codon_start=1
                     /product="intraflagellar transport protein 46 homolog
                     isoform 2"
                     /protein_id="NP_001162089.1"
                     /db_xref="CCDS:CCDS53718.1"
                     /db_xref="GeneID:56912"
                     /db_xref="HGNC:HGNC:26146"
                     /db_xref="MIM:620506"
                     /translation="MADNSSDECEEENNKEKKKTSQLTPQRGFSENEDDDDDDDDSSE
                     TDSDSDDDDEEHGAPLEGAYDPADYEHLPVSAEIKELFQYISRYTPQLIDLDHKLKPF
                     IPDFIPAVGDIDAFLKVPRPDGKPDNLGLLVLDEPSTKQSDPTVLSLWLTENSKQHNI
                     TQHMKVKSLEDAEKNPKAIDTWIESISELHRSKPPATVHYTRPMPDIDTLMQEWSPEF
                     EELLGKVSLPTAEIDCSLAEYIDMICAILDIPVYKSRIQSLHLLFSLYSEFKNSQHFK
                     ALAEGKKAFTPSSNSTSQAGDMETLTFS"
     exon            320..459
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     exon            460..534
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     exon            535..628
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     exon            629..757
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     exon            758..879
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     exon            880..946
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1007
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1093
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1562
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1541..1546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /note="hexamer: AGTAAA"
     polyA_site      1562
                     /gene="IFT46"
                     /gene_synonym="C11orf2; C11orf60; CFAP32; FAP32"
                     /note="major polyA site"
ORIGIN      
        1 atctttttgc ctagcgactg acaacaggct ggttgcttgg cgtggaatcc taaagtggcc
       61 tggctttgag actggagtga gaccccagcc ctaggctggg gttctttcca ttatagagga
      121 gacggattca gaagggctac agaccaaggt tgttgaaaac cagacatatg atgagcgtct
      181 agagattaac gactccgaag aggttgcaag tatttatact ccaaccccaa gacaccaagg
      241 acttcctcgt tctgcccatc ttcctaacaa ggctatggct gataacagca gtgatgagtg
      301 tgaagaggaa aataacaagg agaagaagaa gacctcacag ttgacacctc aacggggctt
      361 tagtgaaaat gaggatgacg atgatgatga tgatgattca tctgaaactg attctgattc
      421 tgatgatgat gatgaagagc atggagcccc tctggaaggg gcctatgacc ctgcagacta
      481 tgagcatttg ccagtttctg ctgaaattaa ggaactcttc cagtacatca gtaggtacac
      541 acctcagttg attgacctgg accacaaact gaagcctttc attcctgatt ttatcccagc
      601 tgtcggggat attgatgcat tcttaaaggt cccacgtcct gatggaaagc ctgacaacct
      661 tggcctattg gtattggatg aaccttctac aaagcagtca gaccctacgg tgctctcact
      721 ctggttaaca gagaattcta agcagcacaa catcacacaa catatgaaag taaaaagcct
      781 agaagatgca gaaaagaatc ccaaagccat tgacacgtgg attgagagca tctctgaatt
      841 acaccgttct aagccccctg cgactgtgca ctacaccagg cccatgcccg acattgacac
      901 gctgatgcag gaatggtccc cggagtttga agagcttttg ggcaaggtaa gcctgcccac
      961 ggcagagatt gattgcagcc tggcagagta cattgacatg atctgtgcca ttctagacat
     1021 ccctgtctac aagagtcgga tccagtccct ccatctgctc ttttccctct actcagaatt
     1081 caagaactca cagcatttta aagctctcgc tgaaggcaag aaagcattca ctccttcatc
     1141 caattccacc tcccaagctg gagacatgga gacattaacc ttcagctgag acacttccca
     1201 agctgctgtt tcaaggctga gctggcccct ctgccccagc tgagatggac agatcgttgt
     1261 cagctacttg atgtccttgc ccatgccaca gcttggctca ggggcagtgc atgtcctgct
     1321 gccctctctg ccagagggca cagaacatgt ttgtttaatg aacctgcctg cctcagattg
     1381 ctgtccccgg ggagttaatg catctacacc actgtgggga tttgagttat aagaattgga
     1441 atttctgaga tcccatggag gttagattgg gaggaaagct taaaagatgt cctttttgtg
     1501 agagggatgg aattgttttc tttcattcgt aaagttagtg agtaaagatt ttataaatca
     1561 aa
//
