LOCUS       NM_022361               1879 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens popeye domain cAMP effector 3 (POPDC3), transcript
            variant 1, mRNA.
ACCESSION   NM_022361
VERSION     NM_022361.5
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 1879)
  AUTHORS   Sun,C.C., Zhao,Z., Peng,X.Y., Zheng,L. and Tang,C.F.
  TITLE     Progress on the study of Popeye domain-containing 3 (POPDC3) in
            malignancies and striated muscle function and homeostasis
  JOURNAL   Clin Genet 103 (6), 617-624 (2023)
   PUBMED   36843357
  REMARK    GeneRIF: Progress on the study of Popeye domain-containing 3
            (POPDC3) in malignancies and striated muscle function and
            homeostasis.
            Review article
REFERENCE   2  (bases 1 to 1879)
  AUTHORS   De Ridder,W., de Vries,G., Van Schil,K., Deconinck,T., Mouly,V.,
            Straub,V. and Baets,J.
  TITLE     A homozygous loss of function variant in POPDC3: From invalidating
            exercise intolerance to a limb-girdle muscular dystrophy phenotype
  JOURNAL   Neuromuscul Disord 33 (5), 432-439 (2023)
   PUBMED   37104941
  REMARK    GeneRIF: A homozygous loss of function variant in POPDC3: From
            invalidating exercise intolerance to a limb-girdle muscular
            dystrophy phenotype.
REFERENCE   3  (bases 1 to 1879)
  AUTHORS   Ullah,A., Lin,Z., Younus,M., Shafiq,S., Khan,S., Rasheed,M.,
            Mahmood,A., Alqosaibi,A.I., Alshehri,M.A., Khan,A. and Umair,M.
  TITLE     Homozygous missense variant in POPDC3 causes recessive limb-girdle
            muscular dystrophy type 26
  JOURNAL   J Gene Med 24 (4), e3412 (2022)
   PUBMED   35075722
  REMARK    GeneRIF: Homozygous missense variant in POPDC3 causes recessive
            limb-girdle muscular dystrophy type 26.
REFERENCE   4  (bases 1 to 1879)
  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   5  (bases 1 to 1879)
  AUTHORS   Gingold-Belfer,R., Kessler-Icekson,G., Morgenstern,S.,
            Rath-Wolfson,L., Zemel,R., Boltin,D., Levi,Z. and
            Herman-Edelstein,M.
  TITLE     The Transition from Gastric Intestinal Metaplasia to Gastric Cancer
            Involves POPDC1 and POPDC3 Downregulation
  JOURNAL   Int J Mol Sci 22 (10), 5359 (2021)
   PUBMED   34069715
  REMARK    GeneRIF: The Transition from Gastric Intestinal Metaplasia to
            Gastric Cancer Involves POPDC1 and POPDC3 Downregulation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1879)
  AUTHORS   Zhao,J., Li,M., Bradfield,J.P., Zhang,H., Mentch,F.D., Wang,K.,
            Sleiman,P.M., Kim,C.E., Glessner,J.T., Hou,C., Keating,B.J.,
            Thomas,K.A., Garris,M.L., Deliard,S., Frackelton,E.C., Otieno,F.G.,
            Chiavacci,R.M., Berkowitz,R.I., Hakonarson,H. and Grant,S.F.
  TITLE     The role of height-associated loci identified in genome wide
            association studies in the determination of pediatric stature
  JOURNAL   BMC Med Genet 11, 96 (2010)
   PUBMED   20546612
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1879)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1879)
  AUTHORS   Sulem,P., Gudbjartsson,D.F., Rafnar,T., Holm,H., Olafsdottir,E.J.,
            Olafsdottir,G.H., Jonsson,T., Alexandersen,P., Feenstra,B.,
            Boyd,H.A., Aben,K.K., Verbeek,A.L., Roeleveld,N., Jonasdottir,A.,
            Styrkarsdottir,U., Steinthorsdottir,V., Karason,A., Stacey,S.N.,
            Gudmundsson,J., Jakobsdottir,M., Thorleifsson,G., Hardarson,G.,
            Gulcher,J., Kong,A., Kiemeney,L.A., Melbye,M., Christiansen,C.,
            Tryggvadottir,L., Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Genome-wide association study identifies sequence variants on 6q21
            associated with age at menarche
  JOURNAL   Nat Genet 41 (6), 734-738 (2009)
   PUBMED   19448622
REFERENCE   9  (bases 1 to 1879)
  AUTHORS   Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H.,
            Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S.,
            Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A.,
            Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H.,
            Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M.,
            Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C.,
            Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   10 (bases 1 to 1879)
  AUTHORS   Andree,B., Hillemann,T., Kessler-Icekson,G., Schmitt-John,T.,
            Jockusch,H., Arnold,H.H. and Brand,T.
  TITLE     Isolation and characterization of the novel popeye gene family
            expressed in skeletal muscle and heart
  JOURNAL   Dev Biol 223 (2), 371-382 (2000)
   PUBMED   10882522
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359709.15, AK314101.1 and
            AL356775.14.
            
            On Nov 23, 2018 this sequence version replaced NM_022361.4.
            
            Summary: This gene encodes a member of the POP family of proteins
            containing three putative transmembrane domains. This gene is
            expressed in cardiac and skeletal muscle and may play an important
            role in these tissues during development. Alternatively spliced
            transcript variants have been found. [provided by RefSeq, Nov
            2008].
            
            Transcript Variant: This variant (1) is the longer transcript and
            encodes a protein of 291 aa.
            
            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 :: SRR1803617.242186.1,
                                           SRR1660805.183928.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254765.4/ ENSP00000254765.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AL359709.15        18399-18429         c
            32-108              AL359709.15        18322-18398         c
            109-1309            AK314101.1         78-1278
            1310-1879           AL356775.14        3217-3786
FEATURES             Location/Qualifiers
     source          1..1879
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     gene            1..1879
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
                     /note="popeye domain cAMP effector 3"
                     /db_xref="GeneID:64208"
                     /db_xref="HGNC:HGNC:17649"
                     /db_xref="MIM:605824"
     exon            1..182
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
                     /inference="alignment:Splign:2.1.0"
     exon            183..918
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             434..1309
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
                     /note="popeye protein 3; popeye domain containing 3"
                     /codon_start=1
                     /product="popeye domain-containing protein 3"
                     /protein_id="NP_071756.2"
                     /db_xref="CCDS:CCDS5052.1"
                     /db_xref="GeneID:64208"
                     /db_xref="HGNC:HGNC:17649"
                     /db_xref="MIM:605824"
                     /translation="MERNSSLWKNLIDEHPVCTTWKQEAEGAIYHLASILFVVGFMGG
                     SGFFGLLYVFSLLGLGFLCSAVWAWVDVCAADIFSWNFVLFVICFMQFVHIAYQVRSI
                     TFAREFQVLYSSLFQPLGISLPVFRTIALSSEVVTLEKEHCYAMQGKTSIDKLSLLVS
                     GRIRVTVDGEFLHYIFPLQFLDSPEWDSLRPTEEGIFQVTLTAETDCRYVSWRRKKLY
                     LLFAQHRYISRLFSVLIGSDIADKLYALNDRVYIGKRYHYDIRLPNFYQMSTPEIRRS
                     PLTQHFQNSRRYCDK"
     exon            919..1027
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1879
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1474..1479
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
                     /note="hexamer: AATAAA"
     polyA_site      1499
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
                     /note="major polyA site"
     regulatory      1803..1808
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
                     /note="hexamer: AATAAA"
     polyA_site      1831
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
     regulatory      1857..1862
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
                     /note="hexamer: AATAAA"
     polyA_site      1879
                     /gene="POPDC3"
                     /gene_synonym="bA355M14.1; LGMDR26; POP3"
ORIGIN      
        1 gccgccgcgc cgctccggag cccgctgcgg tcacgctgcg cccggcgccg cagggtgggc
       61 ggcgaggcac tcacgagggg gacgctgagg gcttccgcgc gggccacccg ggtcaagcgc
      121 gctccgccgg gaaacttctg cgggcgccgg gctgaagctc cgggcagggc tgggaaggaa
      181 aggaaatacc aaaatatttg cagactggat ccaaatcagg agcccagatg aacttaaaga
      241 agcgagcatg ggattcttag tttttcaaga tccgtacaca cgaagccttt aatcagcatc
      301 aactccagtg tccgttttct ctggttttgt gaagactgca caaaactctc atgatggaga
      361 accaaaggac ttagttacct gtttcagtgt catctaaagt caactgaaaa gtgaagcagg
      421 cagtaataca gccatggaaa gaaattcaag tttatggaag aacctaatag atgaacaccc
      481 agtctgcaca acctggaagc aagaggccga aggagccatt tatcatcttg ccagtatttt
      541 atttgtagta ggtttcatgg gtggcagtgg attcttcggg ctcctttatg tcttcagttt
      601 gctggggttg ggttttctct gttctgctgt ctgggcttgg gtagatgtct gtgcagctga
      661 catattttcc tggaattttg tactgtttgt catctgcttc atgcaatttg ttcatattgc
      721 atatcaagtt cgcagcataa cctttgcccg agaattccaa gtgttgtaca gctccctttt
      781 ccagcccctg gggatctctt tgcctgtctt cagaacgatt gctttgagct ctgaagtggt
      841 tactttggaa aaggaacact gttatgccat gcaggggaaa acttccattg ataaactctc
      901 cttgcttgtt tcaggaagga tcagagtgac agttgatggc gaatttctgc attacatttt
      961 cccccttcag ttcctggatt ctcctgagtg ggattcactg agacccacag aggaaggcat
     1021 ttttcaggta accctcactg cagaaactga ttgtcgatat gtgtcttgga ggagaaagaa
     1081 attatatctg ctctttgctc agcatcgcta catctcccgc cttttttcag tgctaattgg
     1141 cagtgacatt gcagataaac tctatgcctt gaatgacagg gtatatatag gaaaaagata
     1201 tcactatgat attcggctac ccaacttcta tcaaatgtca actccagaaa tacgcagatc
     1261 acccctgaca caacattttc agaattccag acgatactgt gataaatgac atcaaagtct
     1321 gaaatttata agtataaaaa aagactctct cttcatcatt ccccagtgaa atagcaaaat
     1381 acaaaaaaag agctccctaa tgtttttata aatcaaattc agaagcgaga tgccattgcc
     1441 aactgtttta ttcctttcaa caactgcatt gtgaataaac tttacaaatt tttcttgtat
     1501 ttctcattgt tataattggg gagggggtgg ataactatgg gcagtttgcc cttttctgca
     1561 tcaaaactgg gagaatgaaa ttccactttc tcaattcttt tctcacattt actcaaatgc
     1621 attgtcttgc cctatagact caggagttgc ttctcaagaa agagccagca agtattctca
     1681 gcctgagggt gggttgctac tgtccacata ggcatttccg gaattcactt ttttgctaca
     1741 acctccagtg aaagcaatta tttattttaa atgtgcagtt acttgatgcg actaaaaagt
     1801 agaataaatg caagagataa taatatgtga atcttgaagc ctattttatt gctacaaata
     1861 aaataacatt taaaaagaa
//
