LOCUS       NM_173348               5455 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens family with sequence similarity 149 member B1
            (FAM149B1), mRNA.
ACCESSION   NM_173348 XM_001721910 XM_001722273 XM_001723052
VERSION     NM_173348.2
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 5455)
  AUTHORS   Satoda,Y., Noguchi,T., Fujii,T., Taniguchi,A., Katoh,Y. and
            Nakayama,K.
  TITLE     BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36
            contributes to intraflagellar transport turnaround involving
            ICK/CILK1
  JOURNAL   Mol Biol Cell 33 (9), ar79 (2022)
   PUBMED   35609210
  REMARK    GeneRIF: BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36
            contributes to intraflagellar transport turnaround involving
            ICK/CILK1.
REFERENCE   2  (bases 1 to 5455)
  AUTHORS   Siegert,S., Mindler,G.T., Brucke,C., Kranzl,A., Patsch,J.,
            Ritter,M., Janecke,A.R. and Vodopiutz,J.
  TITLE     Expanding the Phenotype of the FAM149B1-Related Ciliopathy and
            Identification of Three Neurogenetic Disorders in a Single Family
  JOURNAL   Genes (Basel) 12 (11), 1648 (2021)
   PUBMED   34828254
  REMARK    GeneRIF: Expanding the Phenotype of the FAM149B1-Related Ciliopathy
            and Identification of Three Neurogenetic Disorders in a Single
            Family.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5455)
  AUTHORS   Shaheen,R., Jiang,N., Alzahrani,F., Ewida,N., Al-Sheddi,T.,
            Alobeid,E., Musaev,D., Stanley,V., Hashem,M., Ibrahim,N.,
            Abdulwahab,F., Alshenqiti,A., Sonmez,F.M., Saqati,N., Alzaidan,H.,
            Al-Qattan,M.M., Al-Mohanna,F., Gleeson,J.G. and Alkuraya,F.S.
  TITLE     Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and
            a Range of Ciliopathy Phenotypes in Humans
  JOURNAL   Am J Hum Genet 104 (4), 731-737 (2019)
   PUBMED   30905400
  REMARK    GeneRIF: FAM149B1 is required for normal ciliary biology and its
            deficiency results in a range of ciliopathy phenotypes in humans
            along the spectrum of Joubert syndrome
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC340839.1, AB023191.1, BM977866.1 and AC016394.13.
            
            On May 17, 2019 this sequence version replaced NM_173348.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.275484.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242505.11/ ENSP00000242505.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-335               DC340839.1         1-335
            336-2769            AB023191.1         64-2497
            2770-3132           BM977866.1         18-380              c
            3133-5455           AC016394.13        124472-126794
FEATURES             Location/Qualifiers
     source          1..5455
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     gene            1..5455
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /note="family with sequence similarity 149 member B1"
                     /db_xref="GeneID:317662"
                     /db_xref="HGNC:HGNC:29162"
                     /db_xref="MIM:618413"
     exon            1..268
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     CDS             222..1970
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /note="protein FAM149B1"
                     /codon_start=1
                     /product="primary cilium assembly protein FAM149B1"
                     /protein_id="NP_775483.1"
                     /db_xref="CCDS:CCDS44435.1"
                     /db_xref="GeneID:317662"
                     /db_xref="HGNC:HGNC:29162"
                     /db_xref="MIM:618413"
                     /translation="MISRYTRKAVPQSLELKGITKHALNHHPPPEKLEEISPTSDSHE
                     KDTSSQSKSDITRESSFTSADTGNSLSAFPSYTGAGISTEGSSDFSWGYGELDQNATE
                     KVQTMFTAIDELLYEQKLSVHTKSLQEECQQWTASFPHLRILGRQIITPSEGYRLYPR
                     SPSAVSASYETTLSQERDSTIFGIRGKKLHFSSSYAHKASSIAKSSSFCSMERDEEDS
                     IIVSEGIIEEYLAFDHIDIEEGFHGKKSEAATEKQKLGYPPIAPFYCMKEDVLAYVFD
                     SVWCKVVSCMEQLTRSHWEGFASDDESNVAVTRPDSESSCVLSELHPLVLPRVPQSKV
                     LYITSNPMSLCQASRHQPNVNDLLVHGMPLQPRNLSLMDKLLDLDDKLLMRPGSSTIL
                     STRNWPNRAVEFSTSSLSYTVQSTRRRNPPPRTLHPISTSHSCAETPRSVEEILRGAR
                     VPVAPDSLSSPSPTPLSRNNLLPPIGTAEVEHVSTVGPQRQMKPHGDSSRAQSAVVDE
                     PNYQQPQERLLLPDFFPRPNTTQSFLLDTQYRRSCAVEYPHQARPGRGSAGPQLHGST
                     KSQSGGRPVSRTRQGP"
     exon            269..373
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            374..503
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            504..646
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            647..763
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            764..931
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1119
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1244
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1348
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1573
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1697
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..1823
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            1824..1896
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     exon            1897..5455
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3111..3116
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /note="hexamer: ATTAAA"
     polyA_site      3132
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /note="major polyA site"
     regulatory      3476..3481
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /note="hexamer: AATACA"
     polyA_site      3495
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
     regulatory      4761..4766
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /note="hexamer: ATTAAA"
     polyA_site      4780
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
     regulatory      5027..5032
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
                     /note="hexamer: ATTAAA"
     polyA_site      5053
                     /gene="FAM149B1"
                     /gene_synonym="JBTS36; KIAA0974"
ORIGIN      
        1 acttccgccc ccgcggcaaa gcagggaggt cggaggactg gagaggtggg gaccctgggg
       61 aggtggctgc tcggagtcta ggtgacgggg cgagacgggg ccggtaggtg gcgggagggg
      121 ccgggccgga gccggcggga gggccaggcc cggaggcccc caccctggcg tgcctgcccc
      181 ggccgcggct gaggaggagg aggaggagga ggaggaggag gatgatctcc agatacactc
      241 ggaaggcggt gccacagagc ttggagctga aaggaataac aaaacatgct cttaaccatc
      301 atccccctcc agagaagctg gaggaaattt cccccaccag tgacagtcat gagaaagaca
      361 caagttccca aagcaagtct gacatcacaa gagaatcatc ttttacatca gccgacactg
      421 ggaattcact gtctgctttt ccaagttata caggcgcagg gatatctact gaaggaagct
      481 cggacttctc ctggggatat ggtgaactcg atcaaaatgc cactgaaaaa gtccagacaa
      541 tgttcacagc cattgatgaa ctcttgtatg agcagaagtt gagtgtgcat accaagagtc
      601 tacaagaaga gtgccaacag tggacagcta gctttcctca cctcaggatt ctaggtaggc
      661 agataatcac tccaagtgaa ggttatagat tgtatcctag atccccttct gctgtttccg
      721 cttcatatga aacaaccttg tctcaagaaa gagattctac tatatttggt ataaggggaa
      781 agaagttaca tttttcatct tcttatgctc ataaagcatc ttccattgcc aaatcctcca
      841 gcttttgttc tatggaaaga gatgaggaag actctataat cgtctcagaa ggaataattg
      901 aggaatacct agcattcgat cacatagata tagaagaggg atttcatggg aagaaatcag
      961 aagcagctac agagaaacag aaattagggt atcctcccat tgctccattt tactgcatga
     1021 aagaagatgt ccttgcttat gtgtttgaca gtgtatggtg caaggttgtg agctgtatgg
     1081 agcagttgac acgtagtcac tgggaaggat ttgcctctga tgatgagagt aatgttgcag
     1141 ttaccagacc cgattcagaa agttcctgtg tgctgagtga actacatcct ttggtgttac
     1201 cgcgagtgcc acagtctaag gtgctgtaca ttacctcaaa tccgatgagt ctctgtcaag
     1261 caagcagaca tcagccaaat gtgaatgatc tcttggttca tggaatgcct ctacagccaa
     1321 gaaatctctc cctaatggac aagctcctag atcttgatga caagctactt atgaggcctg
     1381 ggtccagtac catcctttca actcgaaatt ggccaaatcg agctgtggag tttagtacat
     1441 catctctgtc atacacagtg cagtccacca ggagacgcaa tccaccacca cgaactcttc
     1501 atccgatcag cacgagccat tcatgtgctg aaacaccaag atctgtggaa gaaatcctca
     1561 gaggagcccg agtcccagtg gcacccgact cgctctcctc tccctcaccg acgcccctga
     1621 gtcgaaataa tctgctacca cctattggca cagctgaagt ggaacatgtg agcactgtgg
     1681 ggccacaaag acagatgaaa ccccatggcg actctagtcg agctcaaagt gcggtggtgg
     1741 atgaacctaa ctatcagcag ccacaagaaa ggctcctttt gcccgacttt ttccccaggc
     1801 ccaacacaac tcaatcattt ttgctggata cacagtatcg tcgctcatgt gcagttgagt
     1861 atcctcatca ggcccgacct ggcaggggat ctgcaggtcc tcagttacat gggtctacaa
     1921 aatctcaaag cggaggcaga ccagtctctc gaaccaggca gggaccataa ggcaaatgag
     1981 aagaatctat caggctgcag gaaacacgag atttcatgaa gcagtattca gtcatcaagt
     2041 gatgcagagc ttgtatagaa gatcgactag aaatcatctt catgaagagt gattttggca
     2101 caagtgaccg aagaacaaaa caccatagca gccaaaaatg acatgagtgt tgtttctatc
     2161 tccagttact gtctctttca gcagaaatta acctatccca ttggaaaggc aagtttgtac
     2221 ccaaagatgc aacagtgaat aatacccaaa tcactgctca tgttatctct taacaatgat
     2281 cagttcaatc atataggatt tgatgagctc acacatacac aaaaagcagc aaatcatcag
     2341 tgacaatatc actggcttca gaatacttca gcctgtgttc atttctggag agttgtactc
     2401 agttttaagt cattttgctg ttgaaaatct gacctcatca aatagatgtc attcctaaaa
     2461 ctctctttag atgtcctacc ctatcagcag attaaaatgg aaggggtgtg taactaaaaa
     2521 cataaatgtt aagcattagt ataaagtaac ttctgtaata aattatatcg catatttttt
     2581 cagataggac agctcaacct tacgatgcct acctgatgcc aggtgatgct tattttcttc
     2641 ctaaagtagg ttactggtca tatctttttt ccaaatatta aatgcacctt gccagatatt
     2701 ctcctgcagc tctaaggaaa ggaaatcaat ttaaaaataa tttgtagaat ctactattga
     2761 gccaccaaag tataattccc taaaagttta agaaaccctg gcaattaatt cagcataaac
     2821 atatcctata aacagcagga gaggttcagc tttctgattt tactgtggac cttttcctaa
     2881 gggcattcat gaatgcagca acagttttaa ctatggctta catttatttt aaatttcact
     2941 aaatacaaat cttgattgtc atgccagttt tagatcttat taattttcag aatggataaa
     3001 ttcaaataat cataaattac ggtaactttt tattatacca aggtgttcta atgccatcat
     3061 atgaagacag atgcttcaaa caacctgcat taaattatat ttttaataaa attaaaatct
     3121 atttttaacc tatttgtagt cacaaaccga aaacgtgtcg tctttacctt agagctaaag
     3181 gcttacttta tgcatacggt atatttaata gtctacaaat caaagattta aacagtccct
     3241 taaaaattcc atatattctc ataccaactc atctacatag aaatgaaaat ctctattgtt
     3301 ctcacaaacc attaccatga gttcactata acaactggat caatatggct tgcctttcaa
     3361 agttaaagaa tcagaaaggg gcctgtaaga agtcatttag cccaattccc tcaccctgtg
     3421 tgttttccct caaagccagt gcaatttttt tttaaccaaa aaactggaca tgtttaatac
     3481 atacagtttg acaaatttgg atttcactct ttgttttgat gtagtaactc ttttataaaa
     3541 gggaacagat tcagacaagc tcagtggccc aactgaagac attcagcaat taatggcagg
     3601 acttcagtaa tcagtggcag gactacaaca tacatctctt catgctaggg aaaccaggct
     3661 ctctattata aagctgacca gggctattgt tttccccttt tctctcatcc taaacaccat
     3721 tcatattttt cctaggtcac attttagtgg gatcatttac aaagccccca gaacttaatc
     3781 atcatgtttt acctttttta ttgaattata tacacctctt acaaaaatgc ttgaagtaat
     3841 ttaacacctg tacatcagta caaaacctgg ctgagtaaaa tgaagagagg atctattcaa
     3901 gatcattaag accaaatgta aactgggaag tatgtggaag atagctgtcc agcaagtgtc
     3961 tggaaggtgt tctagctggg tagagagcct attctaacag acacgcacat cgcagaaagc
     4021 agcatgaaca gaaccacatc ctagataaga gttctgtgta cagaagatcc atggaggcaa
     4081 gtgctgtcag gaaggacact gcctccctcc accctcccaa atgtcaccac caagttcctt
     4141 caggtgagac ctcacacaat gtcaagtgct ttctaggaaa tactaagatc aggttgagag
     4201 attctgcttg gtctagtcaa tctgaaaaat tcaggctgga aagacacctt ttctcaagag
     4261 ctgaattgac ttttgccttc aaatcctgcc tgcaccttgc ctacgatggc atcaatttac
     4321 acctaaggac ctttgaagag aaaaattcca ttatttcttt tctttcttga gagcagattt
     4381 tttccctcct cctttggaag atttgcagta ctttgcttcc atctgagcca gaaaattgtc
     4441 catttccttt tgccgatcct tttgtctgct ctgtttgaga agttaaaaca caagctttca
     4501 caacattatc catagacaga aagtacctag tggttgccag gggctggaaa agtggaataa
     4561 ctactaatgg gtatggagtt tttttggaat ggtgaaaatg tcctacaatt ggtgttaata
     4621 attgtaaaac tttgtaaata cacttaaaac caccaaattg tacactttaa aaggacaaat
     4681 agaaggtatg cggttatgtc ttaaaagaag aaaacaaaat acaacattcc aaagaaaata
     4741 ttagcagtag gaatcagatc attaaagatg tggcaacaaa ctgccaagtt tacctgaatg
     4801 gctgccttca ggctatccac gccttcatca agccccaact cctttctgct catttctgct
     4861 tctttggcct cttcctgagc ctgaaacagg aactcacatg agactcaggg ccaccaggaa
     4921 atgcttaaaa tacatactct ttcccaaaag caaatctata attctgtttc aattttatga
     4981 atatatgaat agacaaaatg aatcgaatta cataactatg tcattcatta aatggcaaca
     5041 atgctgacag caagcagtag atcctctgat tccaattacc atttgttttt tacccaattc
     5101 tatttgctag aggtagtaag tactctggca ctcataaatc acatgatgat aaaaaggaac
     5161 atgaggccgg gtatggtggc tcacaactgt aatccccata ccttgggagg ccaaggtggg
     5221 aggatcactt gaactcagga gttcaagacc tgcctgggta acatagtgag acctcagttc
     5281 tataaaaaag aaaagaaatg agcctggtgt ggtggcatgt gcttgtagtc ccagctacta
     5341 gggaggctga ggtgggaaga tggcttcagt ctgagagttc aggctgcaat aagctgtgat
     5401 catgcctctg cactccagcc tgggtgatgg agatgccatc tcttagaaaa aagag
//
