LOCUS       NM_017549               2515 bp    mRNA    linear   PRI 13-MAY-2024
DEFINITION  Homo sapiens ependymin related 1 (EPDR1), transcript variant 1,
            mRNA.
ACCESSION   NM_017549
VERSION     NM_017549.5
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 2515)
  AUTHORS   Jung,J. and Wu,Q.
  TITLE     Identification of bone mineral density associated genes with shared
            genetic architectures across multiple tissues: Functional insights
            for EPDR1, PKDCC, and SPTBN1
  JOURNAL   PLoS One 19 (4), e0300535 (2024)
   PUBMED   38683846
  REMARK    GeneRIF: Identification of bone mineral density associated genes
            with shared genetic architectures across multiple tissues:
            Functional insights for EPDR1, PKDCC, and SPTBN1.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2515)
  AUTHORS   Yang,Y., Zhang,H., Liu,Z., Zhao,F. and Liang,G.
  TITLE     EPDR1 is related to stages and metastasize in bladder cancer and
            can be used as a prognostic biomarker
  JOURNAL   BMC Urol 21 (1), 71 (2021)
   PUBMED   33902536
  REMARK    GeneRIF: EPDR1 is related to stages and metastasize in bladder
            cancer and can be used as a prognostic biomarker.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2515)
  AUTHORS   Liu,C., Nongpiur,M.E., Cheng,C.Y., Khor,C.C., Yu,M., Husain,R.,
            Ho,C.L., Wong,T.T., Boey,P.Y., Perera,S., Wong,T.Y., Vithana,E.N.
            and Aung,T.
  TITLE     Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci
            for Estimating Angle Closure Disease Severity
  JOURNAL   Ophthalmology 128 (3), 403-409 (2021)
   PUBMED   32682838
  REMARK    GeneRIF: Evaluation of Primary Angle-Closure Glaucoma
            Susceptibility Loci for Estimating Angle Closure Disease Severity.
REFERENCE   4  (bases 1 to 2515)
  AUTHORS   Chen,R. and Zhang,Y.
  TITLE     EPDR1 correlates with immune cell infiltration in hepatocellular
            carcinoma and can be used as a prognostic biomarker
  JOURNAL   J Cell Mol Med 24 (20), 12107-12118 (2020)
   PUBMED   32935479
  REMARK    GeneRIF: EPDR1 correlates with immune cell infiltration in
            hepatocellular carcinoma and can be used as a prognostic biomarker.
REFERENCE   5  (bases 1 to 2515)
  AUTHORS   Suarez-Castillo,E.C. and Garcia-Arraras,J.E.
  TITLE     Molecular evolution of the ependymin protein family: a necessary
            update
  JOURNAL   BMC Evol Biol 7, 23 (2007)
   PUBMED   17302986
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2515)
  AUTHORS   Della Valle,M.C., Sleat,D.E., Sohar,I., Wen,T., Pintar,J.E.,
            Jadot,M. and Lobel,P.
  TITLE     Demonstration of lysosomal localization for the mammalian
            ependymin-related protein using classical approaches combined with
            a novel density shift method
  JOURNAL   J Biol Chem 281 (46), 35436-35445 (2006)
   PUBMED   16954209
  REMARK    GeneRIF: Shows that the mouse ortholog is a lysosomal protein.
REFERENCE   7  (bases 1 to 2515)
  AUTHORS   Bradley,S.P., Pahari,M., Uknis,M.E., Rastellini,C. and Cicalese,L.
  TITLE     Gene expression profiles characterize early graft response in
            living donor small bowel transplantation: a case report
  JOURNAL   Transplant Proc 38 (6), 1742-1743 (2006)
   PUBMED   16908269
REFERENCE   8  (bases 1 to 2515)
  AUTHORS   Gregorio-King,C.C., McLeod,J.L., Collier,F.M., Collier,G.R.,
            Bolton,K.A., Van Der Meer,G.J., Apostolopoulos,J. and Kirkland,M.A.
  TITLE     MERP1: a mammalian ependymin-related protein gene differentially
            expressed in hematopoietic cells
  JOURNAL   Gene 286 (2), 249-257 (2002)
   PUBMED   11943480
REFERENCE   9  (bases 1 to 2515)
  AUTHORS   Apostolopoulos,J., Sparrow,R.L., McLeod,J.L., Collier,F.M.,
            Darcy,P.K., Slater,H.R., Ngu,C., Gregorio-King,C.C. and
            Kirkland,M.A.
  TITLE     Identification and characterization of a novel family of mammalian
            ependymin-related proteins (MERPs) in hematopoietic,
            nonhematopoietic, and malignant tissues
  JOURNAL   DNA Cell Biol 20 (10), 625-635 (2001)
   PUBMED   11749721
REFERENCE   10 (bases 1 to 2515)
  AUTHORS   Nimmrich,I., Erdmann,S., Melchers,U., Chtarbova,S., Finke,U.,
            Hentsch,S., Hoffmann,I., Oertel,M., Hoffmann,W. and Muller,O.
  TITLE     The novel ependymin related gene UCC1 is highly expressed in
            colorectal tumor cells
  JOURNAL   Cancer Lett 165 (1), 71-79 (2001)
   PUBMED   11248421
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY027862.2, DA938402.1,
            AC018634.3 and BC000686.2.
            
            On Nov 24, 2018 this sequence version replaced NM_017549.4.
            
            Summary: The protein encoded by this gene is a type II
            transmembrane protein that is similar to two families of cell
            adhesion molecules, the protocadherins and ependymins. This protein
            may play a role in calcium-dependent cell adhesion. This protein is
            glycosylated, and the orthologous mouse protein is localized to the
            lysosome. Alternative splicing results in multiple transcript
            variants. A related pseudogene has been identified on chromosome 8.
            [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: AY027862.2, SRR1803617.151218.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000199448.9/ ENSP00000199448.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-716               AY027862.2         80-795
            717-1015            DA938402.1         309-607
            1016-2500           AC018634.3         41310-42794         c
            2501-2515           BC000686.2         2324-2338
FEATURES             Location/Qualifiers
     source          1..2515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.1"
     gene            1..2515
                     /gene="EPDR1"
                     /gene_synonym="EPDR; MERP-1; MERP1; UCC1"
                     /note="ependymin related 1"
                     /db_xref="GeneID:54749"
                     /db_xref="HGNC:HGNC:17572"
                     /db_xref="MIM:619734"
     exon            1..569
                     /gene="EPDR1"
                     /gene_synonym="EPDR; MERP-1; MERP1; UCC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             301..975
                     /gene="EPDR1"
                     /gene_synonym="EPDR; MERP-1; MERP1; UCC1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; mammalian ependymin related protein 1;
                     upregulated in colorectal cancer gene 1 protein"
                     /codon_start=1
                     /product="mammalian ependymin-related protein 1 isoform 1
                     precursor"
                     /protein_id="NP_060019.2"
                     /db_xref="CCDS:CCDS5454.2"
                     /db_xref="GeneID:54749"
                     /db_xref="HGNC:HGNC:17572"
                     /db_xref="MIM:619734"
                     /translation="MPGRAPLRTVPGALGAWLLGGLWAWTLCGLCSLGAVGAPRPCQA
                     PQQWEGRQVMYQQSSGRNSRALLSYDGLNQRVRVLDERKALIPCKRLFEYILLYKDGV
                     MFQIDQATKQCSKMTLTQPWDPLDIPQNSTFEDQYSIGGPQEQITVQEWSDRKSARSY
                     ETWIGIYTVKDCYPVQETFTINYSVILSTRFFDIQLGIKDPSVFTPPSTCQMAQLEKM
                     SEDCSW"
     exon            570..778
                     /gene="EPDR1"
                     /gene_synonym="EPDR; MERP-1; MERP1; UCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            779..2515
                     /gene="EPDR1"
                     /gene_synonym="EPDR; MERP-1; MERP1; UCC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2491..2496
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPDR1"
                     /gene_synonym="EPDR; MERP-1; MERP1; UCC1"
                     /note="hexamer: AATAAA"
     polyA_site      2515
                     /gene="EPDR1"
                     /gene_synonym="EPDR; MERP-1; MERP1; UCC1"
                     /note="major polyA site"
ORIGIN      
        1 agtgaaaacc gaagcggcag aaggcagtgg cagcaggcag tggcagcagg cagtggccca
       61 ggcagaaata gctcccgcgc gattcactgg agccttcccc gggccctggt cccggctacc
      121 gggactcgcg cgtccggatc tcaaaagcgg cagaggccac cgaagggaca ggaagcactt
      181 tggtccagac cacactcccg gcacagtgcg gaaagagccg gcgggagcca ctctgatccc
      241 ggacgcctca gcgccccctt gggcttgggc ttgccctcgg gccggggaag gctgaccgcg
      301 atgccaggac gcgctcccct ccgcaccgtc ccgggcgccc tgggtgcctg gctgctgggc
      361 ggcctctggg cctggaccct gtgcggcctg tgcagcctgg gggcggtggg agccccgcgc
      421 ccgtgccagg cgccgcagca gtgggagggg cgccaggtta tgtaccagca aagtagcggg
      481 cgcaacagcc gcgccctgct ctcctacgac gggctcaacc agcgcgtgcg ggtgctggac
      541 gagaggaagg cgctgatccc ctgcaagaga ttatttgaat atattttgct gtataaggat
      601 ggagtgatgt ttcagattga ccaagccacc aagcagtgct caaagatgac cctgacacag
      661 ccctgggatc ctcttgacat tcctcaaaac tccacctttg aagaccagta ctccatcggg
      721 gggcctcagg agcagatcac cgtccaggag tggtcggaca gaaagtcagc tagatcctat
      781 gaaacctgga ttggcatcta tacagtcaag gattgctatc ctgtccagga aacctttacc
      841 ataaactaca gtgtgatatt gtctacgcgg ttttttgaca tccagctggg tattaaagac
      901 ccctcggtgt ttacccctcc aagcacgtgc cagatggccc aactggagaa gatgagcgaa
      961 gactgctcct ggtgagcctg tgcataggga agcggcagca tcggatgtca gccccctgcg
     1021 gccccagctg gagatggata tgagactagt caagatgtga atgctaattg gagagaaata
     1081 taattttagg aagatgcaca ttgatgtggg gttttgatgt gtctgatttt gactactcaa
     1141 gctctgttta cagaagaaaa ttgaatggcg agggtgtggc catatgaact gactagatgg
     1201 ctaatatgga cactttgggt atttctaatg cctgttcagg gctggttttc tgcatgcacg
     1261 ggtatacaca taatgcagtg ccatgcacat agggaagggt cagtaagaga agtttgcctt
     1321 ggcagcaagt atttattgtt gacattattc agaattagtg ataataaaaa gcagagtgat
     1381 tttggtcaat tttattatta attcttaaat tccctgcaga gaatgccccc tttattgctg
     1441 caccagggtt ggcattgctc ccactgagcc ctactccacc ctgtccctgc actcccttgg
     1501 ttgccaaaaa aatgataact taaatccctt ccagacttaa gaattttatg gcatggccca
     1561 attgatataa acatttagaa ggaaatgaaa agctaaaata ggaagtaatt attcctctaa
     1621 agaaacattt tgagcaaggc agtttagaga atcctaatgt ctacactggc atagcacgag
     1681 ccatgtaagc ttcttttttt tctatgcaag agtattgatg tatgtgctga atcttcacag
     1741 acttgtcaat acacaggcag tattctaaaa tagcactgaa cagggagtca ggagactatt
     1801 gtctcctaaa cccaggacta gagttccctc gtactgtcac tcctttggtc attaaatgca
     1861 ctgggcttgc ccgcactttg gccttcctag aacactgctt cataacctct ctgtctgact
     1921 tctgcatctc cttccaggtc agctcattca caagagttgc tcccaagcct ggatgagttg
     1981 caccttgcat cttgagcatg catttctcac aataattatt aagctgtgtg ataatttctg
     2041 ctttcaggac actcatccat tatcttggct gtgagctcct tgggtacggg taccttgtat
     2101 gtttactttt atatccctag cacaaagcaa gtgcctggca catagtcagt gccctaagta
     2161 ttcgtagagt gaagaatgcc agcctctctt gtccctggtt tccttatgtg ttgaatgtgg
     2221 ttgagtttgt ccattgctag ggagagactt ccagtaataa aatttactat tctagatgct
     2281 tctactgtta tgttttatct gcccatttat ctttcttagt taccaggaga aatgtgtgac
     2341 acctatatta taatgaaaac aatctcatta cttatagttt atctatatta aacaaattta
     2401 attgcatttt aaagcattct ttgatactgt tgcttttgca ataaatatgg ataatcttgg
     2461 ttataaggga gttaaaacaa tgctgtaata aataaagtgc ttcatgtgat caaaa
//
