LOCUS       NM_004950               1482 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens epiphycan (EPYC), mRNA.
ACCESSION   NM_004950
VERSION     NM_004950.5
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 1482)
  AUTHORS   Yang,Z., Li,H., Hao,J., Mei,H., Qiu,M., Wang,H. and Gao,M.
  TITLE     EPYC functions as a novel prognostic biomarker for pancreatic
            cancer
  JOURNAL   Sci Rep 14 (1), 719 (2024)
   PUBMED   38184732
  REMARK    GeneRIF: EPYC functions as a novel prognostic biomarker for
            pancreatic cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1482)
  AUTHORS   Zhang,J., Zhang,S., Zhou,Y., Qu,Y., Hou,T., Ge,W. and Zhang,S.
  TITLE     KLF9 and EPYC acting as feature genes for osteoarthritis and their
            association with immune infiltration
  JOURNAL   J Orthop Surg Res 17 (1), 365 (2022)
   PUBMED   35902862
  REMARK    GeneRIF: KLF9 and EPYC acting as feature genes for osteoarthritis
            and their association with immune infiltration.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1482)
  AUTHORS   Lock,F.E., Rebollo,R., Miceli-Royer,K., Gagnier,L., Kuah,S.,
            Babaian,A., Sistiaga-Poveda,M., Lai,C.B., Nemirovsky,O.,
            Serrano,I., Steidl,C., Karimi,M.M. and Mager,D.L.
  TITLE     Distinct isoform of FABP7 revealed by screening for
            retroelement-activated genes in diffuse large B-cell lymphoma
  JOURNAL   Proc Natl Acad Sci U S A 111 (34), E3534-E3543 (2014)
   PUBMED   25114248
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Aug 18;112(33):E4630. doi:
            10.1073/pnas.1512789112.. PMID: 26159417]
REFERENCE   4  (bases 1 to 1482)
  AUTHORS   Aldave,A.J., Rosenwasser,G.O., Yellore,V.S., Papp,J.C., Sobel,E.M.,
            Pham,M.N., Chen,M.C., Dandekar,S., Sripracha,R., Rayner,S.A.,
            Sassani,J.W. and Gorin,M.B.
  TITLE     Linkage of posterior amorphous corneal dystrophy to chromosome
            12q21.33 and exclusion of coding region mutations in KERA, LUM,
            DCN, and EPYC
  JOURNAL   Invest Ophthalmol Vis Sci 51 (8), 4006-4012 (2010)
   PUBMED   20357198
  REMARK    GeneRIF: Linkage and haplotype analyses identified 12q21.33 as a
            locus for posterior amorphous corneal dystrophy. However, no
            mutations were identified in the candidate genes (KERA, LUM, DCN,
            EPYC) within this region.
REFERENCE   5  (bases 1 to 1482)
  AUTHORS   Wang,P., Li,S., Xiao,X., Guo,X. and Zhang,Q.
  TITLE     An evaluation of OPTC and EPYC as candidate genes for high myopia
  JOURNAL   Mol Vis 15, 2045-2049 (2009)
   PUBMED   19844586
  REMARK    GeneRIF: OPTC and EPYC are unlikely to play a major role in high
            myopia.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1482)
  AUTHORS   Chen,Z.T., Wang,I.J., Shih,Y.F. and Lin,L.L.
  TITLE     The association of haplotype at the lumican gene with high myopia
            susceptibility in Taiwanese patients
  JOURNAL   Ophthalmology 116 (10), 1920-1927 (2009)
   PUBMED   19616852
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1482)
  AUTHORS   Aldave,A.J., Sonmez,B., Bourla,N., Schultz,G., Papp,J.C.,
            Salem,A.K., Rayner,S.A. and Yellore,V.S.
  TITLE     Autosomal dominant cornea plana is not associated with pathogenic
            mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2
  JOURNAL   Ophthalmic Genet 28 (2), 57-67 (2007)
   PUBMED   17558846
  REMARK    GeneRIF: In addition, no pathogenic sequence variations were found
            in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been
            implicated in corneal and anterior segment dysgenesis.
REFERENCE   8  (bases 1 to 1482)
  AUTHORS   Wang,I.J., Chiang,T.H., Shih,Y.F., Hsiao,C.K., Lu,S.C., Hou,Y.C.
            and Lin,L.L.
  TITLE     The association of single nucleotide polymorphisms in the
            5'-regulatory region of the lumican gene with susceptibility to
            high myopia in Taiwan
  JOURNAL   Mol Vis 12, 852-857 (2006)
   PUBMED   16902402
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1482)
  AUTHORS   Deere,M., Dieguez,J.L., Yoon,S.J., Hewett-Emmett,D., de la
            Chapelle,A. and Hecht,J.T.
  TITLE     Genomic characterization of human DSPG3
  JOURNAL   Genome Res 9 (5), 449-456 (1999)
   PUBMED   10330124
REFERENCE   10 (bases 1 to 1482)
  AUTHORS   Deere,M., Johnson,J., Garza,S., Harrison,W.R., Yoon,S.J.,
            Elder,F.F., Kucherlapati,R., Hook,M. and Hecht,J.T.
  TITLE     Characterization of human DSPG3, a small dermatan sulfate
            proteoglycan
  JOURNAL   Genomics 38 (3), 399-404 (1996)
   PUBMED   8975717
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290642.1 and BQ007792.1.
            
            On Nov 22, 2018 this sequence version replaced NM_004950.4.
            
            Summary: Dermatan sulfate proteoglycan 3 is a member of the small
            leucine-rich repeat proteoglycan family. This gene is composed of
            seven exons. It regulates fibrillogenesis by interacting with
            collagen fibrils and other extracellular matrix proteins. [provided
            by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030958.1, U59111.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261172.8/ ENSP00000261172.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1171              AK290642.1         12-1182
            1172-1482           BQ007792.1         18-328              c
FEATURES             Location/Qualifiers
     source          1..1482
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.33"
     gene            1..1482
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /note="epiphycan"
                     /db_xref="GeneID:1833"
                     /db_xref="HGNC:HGNC:3053"
                     /db_xref="MIM:601657"
     exon            1..26
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /inference="alignment:Splign:2.1.0"
     exon            27..204
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..1008
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /note="dermatan sulfate proteoglycan 3; epiphycan
                     proteoglycan; small chondroitin/dermatan sulfate
                     proteoglycan; proteoglycan-lb"
                     /codon_start=1
                     /product="epiphycan precursor"
                     /protein_id="NP_004941.2"
                     /db_xref="CCDS:CCDS31870.1"
                     /db_xref="GeneID:1833"
                     /db_xref="HGNC:HGNC:3053"
                     /db_xref="MIM:601657"
                     /translation="MKTLAGLVLGLVIFDAAVTAPTLESINYDSETYDATLEDLDNLY
                     NYENIPVDKVEIEIATVMPSGNRELLTPPPQPEKAQEEEEEEESTPRLIDGSSPQEPE
                     FTGVLGPHTNEDFPTCLLCTCISTTVYCDDHELDAIPPLPKNTAYFYSRFNRIKKINK
                     NDFASLSDLKRIDLTSNLISEIDEDAFRKLPQLRELVLRDNKIRQLPELPTTLTFIDI
                     SNNRLGRKGIKQEAFKDMYDLHHLYLTDNNLDHIPLPLPENLRALHLQNNNILEMHED
                     TFCNVKNLTYIRKALEDIRLDGNPINLSKTPQAYMCLPRLPVGSLV"
     exon            205..379
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /inference="alignment:Splign:2.1.0"
     exon            380..538
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /inference="alignment:Splign:2.1.0"
     exon            539..741
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /inference="alignment:Splign:2.1.0"
     exon            742..837
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /inference="alignment:Splign:2.1.0"
     exon            838..1482
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1045..1050
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /note="hexamer: AATAAA"
     polyA_site      1080
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /note="major polyA site"
     regulatory      1462..1467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /note="hexamer: AATAAA"
     polyA_site      1482
                     /gene="EPYC"
                     /gene_synonym="DSPG3; Pg-Lb; PGLB; SLRR3B"
                     /note="major polyA site"
ORIGIN      
        1 gccatttcat caggtcagag ccaaaggaaa gcttgaaaaa tgaagacatt agcaggactt
       61 gttctgggac ttgtcatctt tgatgctgct gtgactgccc caactctaga gtccatcaac
      121 tatgactcag aaacctatga tgccacctta gaagacctgg ataatttgta caactatgaa
      181 aacatacctg ttgataaagt tgagattgaa atagccacag tgatgccttc agggaacaga
      241 gagctcctca ctccaccccc acagcctgag aaggcccagg aagaggaaga ggaggaggaa
      301 tctactccca ggctgattga tggctcttct ccccaggagc ctgaattcac aggggttctg
      361 gggccacaca caaatgaaga ctttccaacc tgtcttttgt gtacttgtat aagtaccacc
      421 gtgtactgtg atgaccatga acttgatgct attcctccgc tgccaaagaa caccgcttat
      481 ttctattccc gctttaacag aattaaaaag atcaacaaaa atgactttgc aagcctaagt
      541 gatttaaaaa ggattgatct gacatcaaat ttaatatctg agattgatga agatgcattc
      601 cgaaaactgc ctcaacttcg agagcttgtc ctgcgtgaca acaaaataag gcagctccca
      661 gaattgccaa ccactttgac atttattgat attagcaaca atagacttgg aaggaaaggg
      721 ataaagcaag aagcatttaa agacatgtat gatctccatc atctgtacct cactgataac
      781 aacttggacc acatccctct gccactccca gaaaatctac gagcccttca cctccagaat
      841 aacaacattc tggaaatgca cgaagatacg ttctgcaatg ttaaaaattt gacttatatt
      901 cgtaaggcac tagaggacat tcgattggat ggaaacccta ttaatctcag caaaactcct
      961 caagcataca tgtgtctacc tcgtctgcct gttgggagcc ttgtctaatt tcagataatg
     1021 gttagcatta cgatggctac tataaataaa ccattcttac tgctctcttc caaaacaaaa
     1081 ctcagcatga tactttgaga ttgtgttctg agagatgata tgactacata aaatacaatt
     1141 aaaaatgtta taatgaaaat gtagtaattt aagaaaacac cagatgagtt aggaataaac
     1201 ctataacatt tacaaaaaga gcaaaactaa gtgatagaaa atatttcaca catgttctta
     1261 tagatcatgt atcacttgca agttttagga gttcatatcc tatatcattt caaattaagt
     1321 acataataaa gtaaaatttt gaaatgaaca ctttaggtat ttttgccaag atttagatgt
     1381 ttttaattaa acttttctct tccttttttt ttcactaaag catgtttatt cccctaatcc
     1441 attaaagagc atgaaaaaaa gaataaatgt atttgaaaat ta
//
