LOCUS       NM_172240               3024 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens POC1 centriolar protein B (POC1B), transcript variant
            1, mRNA.
ACCESSION   NM_172240
VERSION     NM_172240.3
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 3024)
  AUTHORS   Alzahem,T.A., AlTheeb,A. and Ba-Abbad,R.
  TITLE     Phenotypic and genotypic features of POC1B-associated cone
            dystrophy
  JOURNAL   Ophthalmic Genet 45 (1), 72-77 (2024)
   PUBMED   37246743
  REMARK    GeneRIF: Phenotypic and genotypic features of POC1B-associated cone
            dystrophy.
REFERENCE   2  (bases 1 to 3024)
  AUTHORS   Arslanhan,M.D., Cengiz-Emek,S., Odabasi,E., Steib,E., Hamel,V.,
            Guichard,P. and Firat-Karalar,E.N.
  TITLE     CCDC15 localizes to the centriole inner scaffold and controls
            centriole length and integrity
  JOURNAL   J Cell Biol 222 (12) (2023)
   PUBMED   37934472
REFERENCE   3  (bases 1 to 3024)
  AUTHORS   Yanik,O., Batioglu,F., Sahin,Y., Demirel,S. and Ozmert,E.
  TITLE     Seroreactivity against retinal proteins in a case of POC1B gene
            associated cone dystrophy with normal funduscopic appearance: a
            systematic approach to diagnosis
  JOURNAL   Ophthalmic Genet 44 (4), 389-395 (2023)
   PUBMED   36094084
  REMARK    GeneRIF: Seroreactivity against retinal proteins in a case of POC1B
            gene associated cone dystrophy with normal funduscopic appearance:
            a systematic approach to diagnosis.
REFERENCE   4  (bases 1 to 3024)
  AUTHORS   Hua,J., Xu,B., Liu,W., Shi,J., Jiang,H., Zha,X., Zhang,X. and
            Wan,Y.
  TITLE     Homozygous frameshift variant in POC1B causes male infertility with
            oligoasthenoteratozoospermia in human and mice
  JOURNAL   Hum Mol Genet 32 (14), 2307-2317 (2023)
   PUBMED   37070736
  REMARK    GeneRIF: Homozygous frameshift variant in POC1B causes male
            infertility with oligoasthenoteratozoospermia in human and mice.
REFERENCE   5  (bases 1 to 3024)
  AUTHORS   Gan,Q., Tang,D., Yan,Q., Chen,J., Xu,Y., Xue,W., Xiao,L., Zheng,F.,
            Xu,H., Fu,Y. and Dai,Y.
  TITLE     Differential Expression Study of Lysine Crotonylation and Proteome
            for Chronic Obstructive Pulmonary Disease Combined with Type II
            Respiratory Failure
  JOURNAL   Can Respir J 2021, 6652297 (2021)
   PUBMED   34221209
  REMARK    GeneRIF: Differential Expression Study of Lysine Crotonylation and
            Proteome for Chronic Obstructive Pulmonary Disease Combined with
            Type II Respiratory Failure.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3024)
  AUTHORS   Pearson,C.G., Osborn,D.P., Giddings,T.H. Jr., Beales,P.L. and
            Winey,M.
  TITLE     Basal body stability and ciliogenesis requires the conserved
            component Poc1
  JOURNAL   J Cell Biol 187 (6), 905-920 (2009)
   PUBMED   20008567
  REMARK    GeneRIF: Poc1B is required for primary ciliogenesis; Poc1 provides
            a molecular link between the assembly and stability of centrioles
            for ciliary-based motility in T. thermophila and cilia formation
            and function in zebrafish and humans
REFERENCE   7  (bases 1 to 3024)
  AUTHORS   Keller,L.C., Geimer,S., Romijn,E., Yates,J. 3rd, Zamora,I. and
            Marshall,W.F.
  TITLE     Molecular architecture of the centriole proteome: the conserved
            WD40 domain protein POC1 is required for centriole duplication and
            length control
  JOURNAL   Mol Biol Cell 20 (4), 1150-1166 (2009)
   PUBMED   19109428
REFERENCE   8  (bases 1 to 3024)
  AUTHORS   Hames,R.S., Hames,R., Prosser,S.L., Euteneuer,U., Lopes,C.A.,
            Moore,W., Woodland,H.R. and Fry,A.M.
  TITLE     Pix1 and Pix2 are novel WD40 microtubule-associated proteins that
            colocalize with mitochondria in Xenopus germ plasm and centrosomes
            in human cells
  JOURNAL   Exp Cell Res 314 (3), 574-589 (2008)
   PUBMED   18068700
  REMARK    GeneRIF: Based on these data, we propose that Pix1 and Pix2 are
            microtubule-associated adaptor proteins that likely contribute to a
            range of developmental and cell division processes.
REFERENCE   9  (bases 1 to 3024)
  AUTHORS   Higa,L.A., Wu,M., Ye,T., Kobayashi,R., Sun,H. and Zhang,H.
  TITLE     CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat
            proteins and regulates histone methylation
  JOURNAL   Nat Cell Biol 8 (11), 1277-1283 (2006)
   PUBMED   17041588
REFERENCE   10 (bases 1 to 3024)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC354425.1, BC026080.2,
            AK027829.1 and AW149266.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_172240.2.
            
            Summary: POC1 proteins contain an N-terminal WD40 domain and a
            C-terminal coiled coil domain and are part of centrosomes. They
            play an important role in basal body and cilia formation. This gene
            encodes one of the two POC1 proteins found in humans. Mutation in
            this gene result in autosomal-recessive cone-rod dystrophy.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.116419.1,
                                           SRR1660809.65720.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313546.8/ ENSP00000323302.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                DC354425.1         216-242
            28-1848             BC026080.2         5-1825
            1849-3008           AK027829.1         1263-2422
            3009-3024           AW149266.1         13-28               c
FEATURES             Location/Qualifiers
     source          1..3024
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.33"
     gene            1..3024
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /note="POC1 centriolar protein B"
                     /db_xref="GeneID:282809"
                     /db_xref="HGNC:HGNC:30836"
                     /db_xref="MIM:614784"
     exon            1..167
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     CDS             153..1589
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /note="isoform a is encoded by transcript variant 1; WD
                     repeat-containing protein 51B; POC1 centriolar protein
                     homolog B; proteome of centriole protein 1B"
                     /codon_start=1
                     /product="POC1 centriolar protein homolog B isoform a"
                     /protein_id="NP_758440.1"
                     /db_xref="CCDS:CCDS31869.1"
                     /db_xref="GeneID:282809"
                     /db_xref="HGNC:HGNC:30836"
                     /db_xref="MIM:614784"
                     /translation="MASATEDPVLERYFKGHKAAITSLDLSPNGKQLATASWDTFLML
                     WNFKPHARAYRYVGHKDVVTSVQFSPHGNLLASASRDRTVRLWIPDKRGKFSEFKAHT
                     APVRSVDFSADGQFLATASEDKSIKVWSMYRQRFLYSLYRHTHWVRCAKFSPDGRLIV
                     SCSEDKTIKIWDTTNKQCVNNFSDSVGFANFVDFNPSGTCIASAGSDQTVKVWDVRVN
                     KLLQHYQVHSGGVNCISFHPSGNYLITASSDGTLKILDLLEGRLIYTLQGHTGPVFTV
                     SFSKGGELFASGGADTQVLLWRTNFDELHCKGLTKRNLKRLHFDSPPHLLDIYPRTPH
                     PHEEKVETVEINPKLEVIDLQISTPPVMDILSFDSTTTTETSGRTLPDKGEEACGYFL
                     NPSLMSPECLPTTTKKKTEDMSDLPCESQRSIPLAVTDALEHIMEQLNVLTQTVSILE
                     QRLTLTEDKLKDCLENQQKLFSAVQQKS"
     exon            168..252
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     exon            253..424
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     exon            425..604
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     exon            605..712
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     exon            713..828
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     exon            829..962
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1031
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1184
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1265
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1484
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..3024
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2995..3000
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /note="hexamer: AATAAA"
     polyA_site      3024
                     /gene="POC1B"
                     /gene_synonym="CORD20; PIX1; TUWD12; WDR51B"
                     /note="major polyA site"
ORIGIN      
        1 gactgggccg ccgttgttgt agtgaccggg aggcgctgcc gctctgggca gacggttccg
       61 ggagccgcac ggtcccctct ccttccccat cctctcccct cccctctccg ggttccccca
      121 cccacaggag ccttgggccg accactcccc cgatggcctc agccacggag gaccccgttc
      181 tggagcgtta tttcaaaggc cacaaagctg cgatcacctc cttggacctc agccccaacg
      241 gcaagcaact tgctactgct tcttgggata cctttctcat gctatggaat ttcaagccac
      301 atgctagagc ttacagatat gtgggtcaca aggatgttgt aaccagcgtg cagttttctc
      361 cacatggaaa cttattggcg tctgcctcac gagacagaac cgtgagactc tggattcctg
      421 ataagagagg aaaattctca gaatttaaag ctcatacagc tccagttcga agtgtagact
      481 tttcagctga tggccagttt ctagctacag cttctgaaga caaatccata aaagtatgga
      541 gcatgtatcg ccagcgcttc ctgtattcct tgtatcgaca tacacactgg gtacgctgtg
      601 ccaaattttc acccgatgga agactaattg tgtcatgtag tgaggataaa actattaaaa
      661 tttgggatac cacaaataag caatgtgtta ataacttctc agattccgtt ggatttgcaa
      721 attttgtgga ctttaaccct agtggtacat gcatagcttc agcaggttct gatcaaactg
      781 tgaaagtctg ggatgtaaga gtgaacaaat tactacagca ttaccaagtt cacagcggtg
      841 gagttaattg catatcattc catccttcgg gtaactatct catcacagct tcttcagatg
      901 gtacccttaa gattctggac ctcttagaag gaaggctcat ctatacactt caaggacata
      961 cgggacctgt ctttactgtt tcattttcaa aaggtggaga gctatttgca tcaggaggtg
     1021 cagacacaca ggtcttatta tggaggacta actttgatga attgcattgt aaaggtctta
     1081 ccaaaagaaa tctcaaaaga ttacattttg attcaccacc acatcttctt gatatctacc
     1141 caagaacacc acatccccat gaggaaaaag ttgagactgt agaaattaat ccaaagcttg
     1201 aggtaatcga tttgcagatc tctactcccc ctgttatgga tatcctttct tttgattcta
     1261 ccacaacaac agaaaccagt ggtaggactc tgccagacaa gggtgaagag gcctgtggat
     1321 atttcttgaa cccttcctta atgtcaccag aatgtttgcc aacaaccacg aaaaagaaaa
     1381 cagaagacat gagtgacctc ccctgtgaaa gtcaaaggag catacctctc gctgtgactg
     1441 atgctttaga gcatattatg gaacaactca atgttttgac acagactgtt tcaatcttgg
     1501 agcagcgact gactttgaca gaggataagc tgaaagactg ccttgaaaat cagcaaaagc
     1561 ttttcagtgc tgtccaacag aaaagctgaa taaaaaattc attttcattt gttgggcaga
     1621 ggcccaataa atgaacaaat gtacatacac tcaggaaggt agtacaagat actccataca
     1681 acacaaccat gtgctattta tcatggcatt tcttaaaagg gtgagcaaca gaacaaaagg
     1741 cagaaaaggc atacctaagg actaatttaa acacatatca atgtgaagga ctaatttaaa
     1801 ttactatcat ttatgattgc agtaataaag tgataagcat tcaagcaact ctgtattttc
     1861 cccatattat tttaaatgtc cattttcatt tataggccaa atcctgccag gaaagtaacc
     1921 agatctctgg atttcactgt taagtcattt cagattgacc atattcagac agtcatgggg
     1981 tgaaataatt cacttacctc caaaatagca tcctatatgc caataatgag ttattgatct
     2041 gactagttgt atgtctttct gttcaaaata gaaattatcc tttcttacta atgccttgaa
     2101 agaatgaaca aataaaaatt cccagaccac agaatttcca cagcaagaat acacttattt
     2161 taattaacaa tagcacagat atagcatagg gcagtgggtt ttttagttaa tttatggcgt
     2221 actttgttta tccattggcc aacctgaagg aaatgaaact cacctatctt tctatcacag
     2281 atgaatgtgc tagatgaatg atttgggttg tatctgatca tggttcacaa aaattatgtt
     2341 agtgtgtttt cagtatgcta aaaagtcaga gtgatacaaa agtgatattt aaaaatatac
     2401 acacatgtat gtacacatgc ttcagaaata ttgttgctta gggtgatttg ggcagctaaa
     2461 tagtaagtac tttttaaaat ttttgcatca tcatcttcct atttaatgaa ttgtgattta
     2521 aaacaaaatg aaaataagcc aggtattcta aaagatcctg gatacaaatt aagaattttg
     2581 ctttatttta aaccaaattg agattaaatt gaagaaaagc aagcaaatta atttcagctt
     2641 gattatcaac ctgtatcaag aacaaaaatg ggaggaggtg tccacattta tggtgtgtat
     2701 aggtaacatg gggaaaatgc tattctgtgt tttggaaaag aagaaatagt gccgtcctat
     2761 ttatttctat atttagaaat ttttctcaaa gaaatttcaa ttgtatctat gagatgggtt
     2821 tctaagtatc ttattgtgtg ttataagtgc cttttaatat catactaagt gtgagcttct
     2881 ggacattttc aagagcttac aaaaactaag tggcattgta tttttataac cccattgaga
     2941 agactaagta agaaatgaaa tgtcctatca attttatttt gtcatgcttc aaacaataaa
     3001 gacatttctg ctttaaaaga aaaa
//
