LOCUS       NM_015426               1936 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens POC1 centriolar protein A (POC1A), transcript variant
            1, mRNA.
ACCESSION   NM_015426
VERSION     NM_015426.5
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 1936)
  AUTHORS   Li,Z.H., Li,J.Y., Wu,Z.T., Zhu,Y.J., Zhuo,T., Nong,J.S., Qian,J.,
            Peng,H.J., Dai,L., Wang,Y.Y., Chen,M.W. and Zeng,X.C.
  TITLE     Upregulation of POC1A in lung adenocarcinoma promotes tumour
            progression and predicts poor prognosis
  JOURNAL   J Cell Mol Med 28 (6), e18135 (2024)
   PUBMED   38429900
  REMARK    GeneRIF: Upregulation of POC1A in lung adenocarcinoma promotes
            tumour progression and predicts poor prognosis.
REFERENCE   2  (bases 1 to 1936)
  AUTHORS   Perge,K., Capel,E., Villanueva,C., Gautheron,J., Diallo,S.,
            Auclair,M., Rondeau,S., Morichon,R., Brioude,F., Jeru,I., Rossi,M.,
            Nicolino,M. and Vigouroux,C.
  TITLE     Ciliopathy due to POC1A deficiency: clinical and metabolic
            features, and cellular modeling
  JOURNAL   Eur J Endocrinol 190 (2), 151-164 (2024)
   PUBMED   38245004
  REMARK    GeneRIF: Ciliopathy due to POC1A deficiency: clinical and metabolic
            features, and cellular modeling.
REFERENCE   3  (bases 1 to 1936)
  AUTHORS   Zhao,Q., Gao,S., Chen,X. and Zhu,X.
  TITLE     POC1A, prognostic biomarker of immunosuppressive microenvironment
            in cancer
  JOURNAL   Aging (Albany NY) 14 (12), 5195-5210 (2022)
   PUBMED   35748773
  REMARK    GeneRIF: POC1A, prognostic biomarker of immunosuppressive
            microenvironment in cancer.
REFERENCE   4  (bases 1 to 1936)
  AUTHORS   Mericq,V., Huang-Doran,I., Al-Naqeb,D., Basaure,J., Castiglioni,C.,
            de Bruin,C., Hendriks,Y., Bertini,E., Alkuraya,F.S., Losekoot,M.,
            Al-Rubeaan,K., Semple,R.K. and Wit,J.M.
  TITLE     Biallelic POC1A variants cause syndromic severe insulin resistance
            with muscle cramps
  JOURNAL   Eur J Endocrinol 186 (5), 543-552 (2022)
   PUBMED   35234134
  REMARK    GeneRIF: Biallelic POC1A variants cause syndromic severe insulin
            resistance with muscle cramps.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1936)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 1936)
  AUTHORS   Sarig,O., Nahum,S., Rapaport,D., Ishida-Yamamoto,A.,
            Fuchs-Telem,D., Qiaoli,L., Cohen-Katsenelson,K., Spiegel,R.,
            Nousbeck,J., Israeli,S., Borochowitz,Z.U., Padalon-Brauch,G.,
            Uitto,J., Horowitz,M., Shalev,S. and Sprecher,E.
  TITLE     Short stature, onychodysplasia, facial dysmorphism, and
            hypotrichosis syndrome is caused by a POC1A mutation
  JOURNAL   Am J Hum Genet 91 (2), 337-342 (2012)
   PUBMED   22840363
  REMARK    GeneRIF: Short stature, onychodysplasia, facial dysmorphism, and
            hypotrichosis syndrome is caused by a POC1A mutation.
REFERENCE   7  (bases 1 to 1936)
  AUTHORS   Jakobsen,L., Vanselow,K., Skogs,M., Toyoda,Y., Lundberg,E.,
            Poser,I., Falkenby,L.G., Bennetzen,M., Westendorf,J., Nigg,E.A.,
            Uhlen,M., Hyman,A.A. and Andersen,J.S.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
REFERENCE   8  (bases 1 to 1936)
  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
REFERENCE   9  (bases 1 to 1936)
  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   10 (bases 1 to 1936)
  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.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC110877.1, BC119692.2,
            CA944751.1 and AC115284.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_015426.4.
            
            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. Mutations in
            this gene result in short stature, onychodysplasia, facial
            dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by
            RefSeq, Sep 2012].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: AK075289.1, BC119692.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296484.7/ ENSP00000296484.2
            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
            1-23                BC110877.1         268-290
            24-1708             BC119692.2         1-1685
            1709-1929           CA944751.1         18-238              c
            1930-1936           AC115284.4         157113-157119       c
FEATURES             Location/Qualifiers
     source          1..1936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.2"
     gene            1..1936
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /note="POC1 centriolar protein A"
                     /db_xref="GeneID:25886"
                     /db_xref="HGNC:HGNC:24488"
                     /db_xref="MIM:614783"
     exon            1..69
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..1275
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /note="isoform 1 is encoded by transcript variant 1; WD
                     repeat domain 51A; WD repeat-containing protein 51A; POC1
                     centriolar protein homolog A; proteome of centriole
                     protein 1A"
                     /codon_start=1
                     /product="POC1 centriolar protein homolog A isoform 1"
                     /protein_id="NP_056241.3"
                     /db_xref="CCDS:CCDS2846.1"
                     /db_xref="GeneID:25886"
                     /db_xref="HGNC:HGNC:24488"
                     /db_xref="MIM:614783"
                     /translation="MAAPCAEDPSLERHFKGHRDAVTCVDFSINTKQLASGSMDSCLM
                     VWHMKPQSRAYRFTGHKDAVTCVNFSPSGHLLASGSRDKTVRIWVPNVKGESTVFRAH
                     TATVRSVHFCSDGQSFVTASDDKTVKVWATHRQKFLFSLSQHINWVRCAKFSPDGRLI
                     VSASDDKTVKLWDKSSRECVHSYCEHGGFVTYVDFHPSGTCIAAAGMDNTVKVWDVRT
                     HRLLQHYQLHSAAVNGLSFHPSGNYLITASSDSTLKILDLMEGRLLYTLHGHQGPATT
                     VAFSRTGEYFASGGSDEQVMVWKSNFDIVDHGEVTKVPRPPATLASSMGNLPEVDFPV
                     PPGRGRSVESVQSQPQEPVSVPQTLTSTLEHIVGQLDVLTQTVSILEQRLTLTEDKLK
                     QCLENQQLIMQRATP"
     exon            70..154
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /inference="alignment:Splign:2.1.0"
     exon            155..326
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /inference="alignment:Splign:2.1.0"
     exon            327..506
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /inference="alignment:Splign:2.1.0"
     exon            507..614
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /inference="alignment:Splign:2.1.0"
     exon            615..730
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /inference="alignment:Splign:2.1.0"
     exon            731..864
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /inference="alignment:Splign:2.1.0"
     exon            865..933
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1032
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1176
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1936
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1351..1356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /note="hexamer: AATAAA"
     polyA_site      1382
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
     regulatory      1889..1894
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /note="hexamer: ATTAAA"
     polyA_site      1909
                     /gene="POC1A"
                     /gene_synonym="PIX2; SOFT; WDR51A"
                     /note="major polyA site"
ORIGIN      
        1 gaacgggccg caacggccac cgcagctgcc ttcggcgccg ccagccccgc catggctgcg
       61 ccctgcgcgg aggacccctc gctggaaagg cattttaagg gccaccgaga tgcagttacc
      121 tgtgtggact tcagtatcaa cacaaagcag ctggccagtg gctccatgga ctcatgcctc
      181 atggtctggc acatgaagcc gcagtcacgc gcctaccgct tcactggcca caaggatgcc
      241 gtcacctgtg tgaacttctc tccttcggga cacctgcttg cttccggctc ccgagacaag
      301 actgtccgca tctgggtacc caatgtcaaa ggtgagtcca ctgtgtttcg tgcacacaca
      361 gccacagtga ggagtgtcca cttctgcagt gatggccagt ccttcgtgac agcctctgac
      421 gacaagacag tcaaagtgtg ggcaactcat cgccagaaat tcctgttctc cctgagccag
      481 catatcaact gggtccgctg tgccaagttc tcccccgacg ggcggctcat cgtgtctgcc
      541 agtgatgaca agactgttaa gctgtgggac aagagcagcc gggaatgtgt ccactcgtat
      601 tgtgagcatg gcggctttgt cacctatgtg gacttccacc ccagtgggac gtgcattgcc
      661 gctgccggca tggacaacac agtgaaggtg tgggacgtgc ggactcaccg gctgctgcag
      721 cattatcagt tgcacagtgc agcagtgaac gggctctctt tccacccgtc gggaaactac
      781 ctgatcacag cctccagtga ctcaaccctg aagatcctgg acctgatgga gggccggctg
      841 ctctacacac tccacgggca tcagggacca gccaccactg ttgccttttc aagaacgggg
      901 gagtattttg cttctggagg ctctgatgaa caagtgatgg tttggaagag taactttgat
      961 attgttgatc atggagaagt cacgaaagtg ccgaggcccc cagccacact ggccagctcc
     1021 atggggaatc tgccagaagt ggacttccct gtccccccag gcagaggcag gagtgtggag
     1081 tctgtgcaga gccagcccca ggagcccgtg agtgtgcccc agacactgac tagcacgctg
     1141 gagcacattg tgggccagct ggatgtcctc actcagacag tctccattct ggagcagcgg
     1201 ttgacactga cagaagacaa gctgaagcag tgtctggaga accagcagct aatcatgcag
     1261 agagcaacac catgatcagg ggagcaggaa tcaggagctc ggtggatttg caggtggcag
     1321 gccagggatt tgtaccatgg gacttgggta aataaagggg actgaactct gtgggaatca
     1381 catccatact ggagccctgg atttttgcag ttctgccctc caccttgcta tctgcaccag
     1441 gaggctctcc acctggcagc cagaggtccc cagtgggccg ggctcacaca caaatgatgc
     1501 ttcagacccg aatgagagga ccacattttg cttaatgtaa aggagccact tgaaaatgtc
     1561 tgctccttcg gggtcctgag attgtggctc cccctctgga ggaggtggct ccacgatgcc
     1621 ttgattttca ctcatcattt ggacatgtga ctggcttttc ctacctctgc catggtgtag
     1681 aaattgattg cacattgatt ggatgagccg ggggttttct ctaaatctga ctaaaggccc
     1741 aaagtgggcc catctgagtc aggtttgttg agaacaagcc ctctcaagtg ggtggtggct
     1801 tttcagtggc cctgatttct gttccacacg tgttcactgg agccaggtga cttcctcctt
     1861 gcgtgagtga gggcacagga atctcaaaat taaacctgac ttcattgcac ttgttgcagg
     1921 agtggcttat gctgga
//
