LOCUS       NM_001199563            5550 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens popeye domain cAMP effector 1 (POPDC1), transcript
            variant C, mRNA.
ACCESSION   NM_001199563
VERSION     NM_001199563.2
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 5550)
  AUTHORS   Mahmood,A., Samad,A., Shah,A.A., Wadood,A., Alkathiri,A.,
            Alshehri,M.A., Alam,M.Z., Hussain,T., He,P. and Umair,M.
  TITLE     A novel biallelic variant in the Popeye domain-containing protein 1
            (POPDC1) underlies limb girdle muscle dystrophy type 25
  JOURNAL   Clin Genet 103 (2), 219-225 (2023)
   PUBMED   36155908
  REMARK    GeneRIF: A novel biallelic variant in the Popeye domain-containing
            protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.
REFERENCE   2  (bases 1 to 5550)
  AUTHORS   Swan,A.H., Schindler,R.F.R., Savarese,M., Mayer,I., Rinne,S.,
            Bleser,F., Schanzer,A., Hahn,A., Sabatelli,M., Perna,F.,
            Chapman,K., Pfuhl,M., Spivey,A.C., Decher,N., Udd,B., Tasca,G. and
            Brand,T.
  TITLE     Differential effects of mutations of POPDC proteins on heteromeric
            interaction and membrane trafficking
  JOURNAL   Acta Neuropathol Commun 11 (1), 4 (2023)
   PUBMED   36624536
  REMARK    GeneRIF: Differential effects of mutations of POPDC proteins on
            heteromeric interaction and membrane trafficking.
            Erratum:[Acta Neuropathol Commun. 2023 Jul 11;11(1):114. doi:
            10.1186/s40478-023-01591-0.. PMID: 37434226]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5550)
  AUTHORS   Gangfuss,A., Hentschel,A., Heil,L., Gonzalez,M., Schonecker,A.,
            Depienne,C., Nishimura,A., Zengeler,D., Kohlschmidt,N.,
            Sickmann,A., Schara-Schmidt,U., Furst,D.O., van der Ven,P.F.M.,
            Hahn,A., Roos,A. and Schanzer,A.
  TITLE     Proteomic and morphological insights and clinical presentation of
            two young patients with novel mutations of BVES (POPDC1)
  JOURNAL   Mol Genet Metab 136 (3), 226-237 (2022)
   PUBMED   35660068
  REMARK    GeneRIF: Proteomic and morphological insights and clinical
            presentation of two young patients with novel mutations of BVES
            (POPDC1).
REFERENCE   4  (bases 1 to 5550)
  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   5  (bases 1 to 5550)
  AUTHORS   Holt,I., Fuller,H.R., Schindler,R.F.R., Shirran,S.L., Brand,T. and
            Morris,G.E.
  TITLE     An interaction of heart disease-associated proteins POPDC1/2 with
            XIRP1 in transverse tubules and intercalated discs
  JOURNAL   BMC Mol Cell Biol 21 (1), 88 (2020)
   PUBMED   33261556
  REMARK    GeneRIF: An interaction of heart disease-associated proteins
            POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5550)
  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   7  (bases 1 to 5550)
  AUTHORS   Feng,Q., Hawes,S.E., Stern,J.E., Wiens,L., Lu,H., Dong,Z.M.,
            Jordan,C.D., Kiviat,N.B. and Vesselle,H.
  TITLE     DNA methylation in tumor and matched normal tissues from non-small
            cell lung cancer patients
  JOURNAL   Cancer Epidemiol Biomarkers Prev 17 (3), 645-654 (2008)
   PUBMED   18349282
  REMARK    GeneRIF: Methylation of BVES was present in 80% of NSCLC tissues
            but only 14% of noncancerous tissues.
REFERENCE   8  (bases 1 to 5550)
  AUTHORS   Osler,M.E., Chang,M.S. and Bader,D.M.
  TITLE     Bves modulates epithelial integrity through an interaction at the
            tight junction
  JOURNAL   J Cell Sci 118 (Pt 20), 4667-4678 (2005)
   PUBMED   16188940
REFERENCE   9  (bases 1 to 5550)
  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
REFERENCE   10 (bases 1 to 5550)
  AUTHORS   Reese,D.E. and Bader,D.M.
  TITLE     Cloning and expression of hbves, a novel and highly conserved mRNA
            expressed in the developing and adult heart and skeletal muscle in
            the human
  JOURNAL   Mamm Genome 10 (9), 913-915 (1999)
   PUBMED   10441744
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356775.14, AK289979.1,
            Z95329.1 and BC040502.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001199563.1.
            
            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 development of these tissues. The mouse ortholog may be
            involved in the regeneration of adult skeletal muscle and may act
            as a cell adhesion molecule in coronary vasculogenesis. Three
            transcript variants encoding the same protein have been found for
            this gene. [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (C) has an alternate 5' UTR exon
            and encodes the same protein, as compared to variant A.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC040502.1, SRR1803613.261692.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267764 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314641.10/ ENSP00000313172.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-138               AL356775.14        24529-24666
            139-1272            AK289979.1         140-1273
            1273-5520           Z95329.1           16862-21109
            5521-5550           BC040502.1         5522-5551
FEATURES             Location/Qualifiers
     source          1..5550
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     gene            1..5550
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /note="popeye domain cAMP effector 1"
                     /db_xref="GeneID:11149"
                     /db_xref="HGNC:HGNC:1152"
                     /db_xref="MIM:604577"
     exon            1..189
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /inference="alignment:Splign:2.1.0"
     exon            190..426
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             201..1283
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /note="blood vessel epicardial substance"
                     /codon_start=1
                     /product="popeye domain-containing protein 1"
                     /protein_id="NP_001186492.1"
                     /db_xref="CCDS:CCDS5051.1"
                     /db_xref="GeneID:11149"
                     /db_xref="HGNC:HGNC:1152"
                     /db_xref="MIM:604577"
                     /translation="MNYTESSPLRESTAIGFTPELESIIPVPSNKTTCENWREIHHLV
                     FHVANICFAVGLVIPTTLHLHMIFLRGMLTLGCTLYIVWATLYRCALDIMIWNSVFLG
                     VNILHLSYLLYKKRPVKIEKELSGMYRRLFEPLRVPPDLFRRLTGQFCMIQTLKKGQT
                     YAAEDKTSVDDRLSILLKGKMKVSYRGHFLHNIYPCAFIDSPEFRSTQMHKGEKFQVT
                     IIADDNCRFLCWSRERLTYFLESEPFLYEIFRYLIGKDITNKLYSLNDPTLNDKKAKK
                     LEHQLSLCTQISMLEMRNSIASSSDSDDGLHQFLRGTSSMSSLHVSSPHQRASAKMKP
                     IEEGAEDDDDVFEPASPNTLKVHQLP"
     exon            427..551
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /inference="alignment:Splign:2.1.0"
     exon            552..739
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /inference="alignment:Splign:2.1.0"
     exon            740..848
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /inference="alignment:Splign:2.1.0"
     exon            849..1016
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1158
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1159..5550
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5529..5534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /note="hexamer: AATAAA"
     polyA_site      5550
                     /gene="POPDC1"
                     /gene_synonym="BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1"
                     /note="major polyA site"
ORIGIN      
        1 agtcaaagcg gctgcgggct tggggacccg gcccgggcag cggagcttcc ggacccgccg
       61 acccgccgag gagcgcgcgt cgggctcccg tcgagcagct gagcccgtgt gccccgcgtc
      121 ccgcgccccg aagctgccgc tccgaacttt ggtcggcgct gcccaggctc cccgccaggg
      181 accagccggg aattttcaaa atgaattata cagagtccag cccattgaga gaatcaactg
      241 ccataggttt tacacctgag ttagaaagta tcatacctgt gccttccaat aagaccactt
      301 gtgaaaactg gagagagata catcatctgg tttttcatgt agcaaatatt tgttttgcag
      361 ttgggttggt tattccaact actcttcacc ttcatatgat atttcttagg ggaatgttaa
      421 ctctaggatg taccctttat atcgtctggg ccactctcta ccgatgtgcc ttggatataa
      481 tgatctggaa ctctgtgttc ttgggtgtca acattttgca tctgtcgtat cttttataca
      541 agaagagacc ggtaaagatt gaaaaggaac tcagtggcat gtaccggcga ttgtttgaac
      601 cactccgtgt gcctccagat ttgttcagaa gactaactgg acagttttgc atgatccaaa
      661 ccttgaaaaa gggccaaact tatgctgcag aggataaaac ctcagttgat gaccgtctga
      721 gtattctctt gaagggaaaa atgaaggtct cctatcgagg acattttctg cataacattt
      781 acccctgtgc ctttatagat tctcctgaat ttagatcaac tcagatgcac aaaggtgaaa
      841 aattccaggt caccattatt gcagatgata actgcagatt tttatgctgg tcaagagaaa
      901 gattaacata ctttctggaa tcagaacctt tcttgtatga aatctttagg tatcttattg
      961 gaaaagacat cacaaataag ctctactcat tgaatgatcc caccttaaat gataaaaaag
     1021 ccaaaaagct ggaacatcag ctcagcctct gcacacagat ctccatgttg gaaatgagga
     1081 acagtatagc cagctccagt gacagtgacg acggcttgca ccagtttctt cggggtacct
     1141 ccagcatgtc ctctcttcat gtgtcatccc cacaccagcg agcctctgcc aagatgaaac
     1201 cgatagaaga aggagcagaa gatgatgatg acgtttttga accggcatct ccaaatacat
     1261 tgaaagtcca tcagctgcct tgatcagaga gagaattcag gttaccaaga cggaaggtgt
     1321 cttgaagaga tcctgaaaaa taccagcact ttttcatggc ttttaggtta ttctgcttta
     1381 gtgcatccag actggtggag tcggagggag gaagtgagga agggtcaagg atggaagagt
     1441 tctttcactt acccttttta ttagtcagct tttaaagtaa ttgttttact gagccttctg
     1501 actatgcctt gttctctttt gagatatata ttttcacagt cttttctaga tatattattg
     1561 ttttaactta acaaatctta gcaatctctc aatgcctttt cacttatttt tttccaagtt
     1621 atgattcttt ttcctcacag tcttttttgt tccatagcaa tgaggttgtc catttgataa
     1681 ttttaacaaa caatgtaagt ttaaaattga ggctaaggta acatgaaaaa gcagggaatc
     1741 tcaaacttta ttccatatat acacacacac acacacacac acacacacac atacatacat
     1801 acatatatat atatatatac atatatatac atacacacat acatataatt tttttttttt
     1861 ttgagatgga gtttcactct gtcgcccagg ctggagtgta gtggcacatt ctcagctcac
     1921 tgcaaactcc acctcctgga ttcacgccac tctcctgcct cagcctcccg agtagctggg
     1981 actacaggca cctgccaccg cgcccagcta atttttttgt atttttagta gagatggggt
     2041 ttcactgtgt tagccaggat ggtctcgatc tcctgacctc gtgatccgcc caccttggcc
     2101 tcccagagtg ctgggattac aggcgtgagc caccgcgccc ggcctattcc atattttttt
     2161 aatgggacat tttagagaaa ggtgtgattt gactggtttt atttttctcc caggccagaa
     2221 gtattactcc actagatcac cttacttaat tgggcactgt gtggataact tgataatgaa
     2281 caaaactctc agattttact cacattaccc ttgtattatg ccatttataa actgctctga
     2341 aacctgaagc tggaaagata acagatgggt ttctgagcac ggggttaacc tccagctaaa
     2401 ctcaacttcc ttgggatttg gagtcaccat gttgtgcaca ctctggtgtg ggaaacactt
     2461 tatgtagggt gggaggacag gggagttaaa tggctgggca ggtgccacag gatgaggcca
     2521 ctgaaagatc tgcttcattc tttgatctgt attctgaagt tccagattgt tcatctagag
     2581 gcagagacat ctcttttaaa aaagtgccag atgccccagt gccagagctg cgaacgtgaa
     2641 cacagtggaa ggcagagggt ttactacagg ccaggccatg gacaccccac ccaggtactg
     2701 cagtgagggc cttgattcca gagctctttt tcctactgaa atcatggttt agtaaacagt
     2761 ggcatttggc tggtgggaaa tgcgtaactg gtcagtgtgt ctggccagcg tggctgtggc
     2821 acttggccag gacgctccgt tgaatgaagc tcattgattg gccatgctgg tcatgtctat
     2881 tttgcttcat ccactagaac caactttgag tcagtctcct gttacgttaa atggctaaga
     2941 aaagttccaa atgaagttgt tctcaggtga actgagccaa aagaagcaac tcttaccatg
     3001 aggtgatttc tgttagagga gacatataaa taagctcatc tagggtcacc tcattttcct
     3061 aaatatgttt ttaaagcaat tattgtagta atttcatttg agttaaattt acatgctcgg
     3121 tcactcattg agaaaattta cacagactct gaatccagtt cctgtcatct tcagatgttg
     3181 gtttattgac atcacagtaa aaaggctact gtcgactgga cacagtggct cacacatgta
     3241 atcacagcac tttggggggc caaggtgggt ggattgctta agcccaggag ttcaagacca
     3301 gcctgggcaa catggctaaa ccccatctct acaaaaaaaa ttagctgggt gtggtggtac
     3361 atacctgtag tcccagctac tcagaaggct gaggtgggag gttcacttga acctgggagg
     3421 ttgaggttgc agtgagcaca gatcacacca ctgcactcca gcctgggcaa cagagtgaga
     3481 ccctatttca aaaaaaggct gctttcactg tactgctgca gcagtctctt caggtagcta
     3541 aattaggagc ttgttttgga gaaatgaagc aaaggtgaat gacagcctag gcttgaaatt
     3601 ataaagctct ctcaggttga actctctcgt gcgctctcgc tctcactttc gccctgtacc
     3661 tgagagcaca ggtgtaactg tgatgtcata gtgccgagac tactttcctt taaccattgg
     3721 ggttaagttg ggcagcccat ttagtttaca cgcgcataag actaatttac aaaatcactc
     3781 tatacagtca ttagatgtaa catccttccc tgagtagaaa gtaatgcatg tgtttggaga
     3841 ttattttctg taatgctggg aacaaacctg ttttaaaagc acactgctaa aagtaggtga
     3901 tataagacca tttgctgttt ttattaaagt atgtgtgtgt atcagtgtct caatgtgaag
     3961 attgtaacct caagattagg aatcttaaaa gagccactta gcctgaatgg gaaacgtgag
     4021 actattttta aacacacacc tctaaggaag aagcctccca tatagacttg atctcaaaga
     4081 agcagataag aagacagaaa agtgttttaa gtgtaagatc tcctatggag tactttaaat
     4141 tcatttatac aaatgaataa gtgtatcttt gtataatgca taaatacata gataaaaaca
     4201 tgtttgctgc caaagttccc aataagatgc ttcctgtgtt ttttggcctt tacttagctg
     4261 aatgatcaaa gttcagaaaa tggtctgcaa aagttactcc atatacaacc ccaaatctac
     4321 tactttaaat gtaacatcaa ctcagttgta tgaatctgga gtgtaatatt tatattagaa
     4381 tgtatatgtc atttaaaata ttttgaaagc cctcataaat atttatattt actaaactaa
     4441 tagcatagac actatataaa tccgcagtga tgcttatata tcttaaatta gtaataatgg
     4501 gtgctatata attattttca gttactatcc ctgacactct ggaatcttct ccatttctcc
     4561 ctatcactca atttcatttt aatcattgga cacctttgcg ttttgctgct aacagtgtgt
     4621 gtatgtcacc ctctttatat ctggttttcc cacttgtctg aagctctcct gatcttagaa
     4681 cctggagctg cagattcctc catgtcagct cccatcacgg ccccaaagac agagtcactt
     4741 ggttgctgag tcacttggtt gctggaaaaa tctttgggga aagctggtat aagctacaca
     4801 ctgacctgtc cccagtgttt ccaggtaatg acttggcact ccagagaaag tttcatgctg
     4861 ttgcgtgtgg tggctccaag ccaagcacct ggcatgcagg tcagcccttc ccagcgggcg
     4921 tggcgtcgtc ctcttcacag atgccacgtt gcagccccaa ggcctcacca ttttgcgttt
     4981 tttagaaacc cattttcttg gtcatttata aagctgcttt atagatatct ttgatcctgg
     5041 catgccttgg tttcctctcc cttccctctt tccaatcctg gtttcctaac ctcctcttgt
     5101 agtaattctc aactcaactc aaagtcccaa gaatttggaa tggtaggatg ctgtgcgggg
     5161 agctcgaggc tgaggcataa tcactgcttc ggttctgctc atcaggggac acgctccctt
     5221 actcatggca gccatgtttg attgtcacag agccccccga atactctgtc tatagtgaca
     5281 cactgtaggt gtcataaatt ttaagaaacc tgcttttaag tactatttat aggtttttct
     5341 gttatacttg caacctagtt ttaaaataca tgaggatttt atgaaagctt tatacagaca
     5401 tttataggaa actcattctt tgattttagg tgccatttaa attgataaca cttactttat
     5461 aaaaagatgc tttttgtctg gatagagcct tatagtttaa aatatcttca tatattgcca
     5521 tttgatcaaa taaatttctt acttagaaaa
//
