LOCUS       NM_005711               4814 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens EGF like repeats and discoidin domains 3 (EDIL3),
            transcript variant 1, mRNA.
ACCESSION   NM_005711
VERSION     NM_005711.5
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 4814)
  AUTHORS   Lian,Z., Luo,W., Liu,J., Wang,J., Chai,W., Wang,Y., Sethi,S. and
            Ma,X.
  TITLE     Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with
            Ankylosing Spondylitis in a Chinese Han Population: A Case-Control
            Study
  JOURNAL   Genet Test Mol Biomarkers 28 (10), 385-392 (2024)
   PUBMED   39358671
  REMARK    GeneRIF: Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in
            Patients with Ankylosing Spondylitis in a Chinese Han Population: A
            Case-Control Study.
REFERENCE   2  (bases 1 to 4814)
  AUTHORS   Ilikci-Sagkan,R., Fatma Akin,D., Liman,R. and Muddassir Ali,M.
  TITLE     In silico analysis of DEL-1 and inflammation-related genes in lung
            squamous cell carcinoma
  JOURNAL   Immunobiology 229 (5), 152838 (2024)
   PUBMED   39089131
  REMARK    GeneRIF: In silico analysis of DEL-1 and inflammation-related genes
            in lung squamous cell carcinoma.
REFERENCE   3  (bases 1 to 4814)
  AUTHORS   Lee,I.H., Lee,S.J., Kang,B., Lee,J., Jung,J.H., Park,H.Y.,
            Park,J.Y., Park,N.J., Kim,E.A., Kang,J. and Chae,Y.S.
  TITLE     Exploration of MELK as a downstream of Del-1 and druggable targets
            in triple-negative breast cancer
  JOURNAL   Breast Cancer Res Treat 205 (1), 181-191 (2024)
   PUBMED   38279017
  REMARK    GeneRIF: Exploration of MELK as a downstream of Del-1 and druggable
            targets in triple-negative breast cancer.
REFERENCE   4  (bases 1 to 4814)
  AUTHORS   Zhao,M., Zheng,Z., Peng,S., Xu,Y., Zhang,J., Liu,J., Pan,W.,
            Yin,Z., Xu,S., Wei,C., Wang,M., Wan,J. and Qin,J.J.
  TITLE     Epidermal Growth Factor-Like Repeats and Discoidin I-Like Domains 3
            Deficiency Attenuates Dilated Cardiomyopathy by Inhibiting
            Ubiquitin Specific Peptidase 10 Dependent Smad4 Deubiquitination
  JOURNAL   J Am Heart Assoc 13 (6), e031283 (2024)
   PUBMED   38456416
  REMARK    GeneRIF: Epidermal Growth Factor-Like Repeats and Discoidin I-Like
            Domains 3 Deficiency Attenuates Dilated Cardiomyopathy by
            Inhibiting Ubiquitin Specific Peptidase 10 Dependent Smad4
            Deubiquitination.
REFERENCE   5  (bases 1 to 4814)
  AUTHORS   Kwak,N., Lee,K.H., Woo,J., Kim,J., Park,J., Lee,C.H. and Yoo,C.G.
  TITLE     Del-1 Plays a Protective Role against COPD Development by
            Inhibiting Inflammation and Apoptosis
  JOURNAL   Int J Mol Sci 25 (4), 1955 (2024)
   PUBMED   38396634
  REMARK    GeneRIF: Del-1 Plays a Protective Role against COPD Development by
            Inhibiting Inflammation and Apoptosis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4814)
  AUTHORS   Johnson,M.P., Roten,L.T., Dyer,T.D., East,C.E., Forsmo,S.,
            Blangero,J., Brennecke,S.P., Austgulen,R. and Moses,E.K.
  TITLE     The ERAP2 gene is associated with preeclampsia in Australian and
            Norwegian populations
  JOURNAL   Hum Genet 126 (5), 655-666 (2009)
   PUBMED   19578876
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 4814)
  AUTHORS   Zou,X., Qiao,H., Jiang,X., Dong,X., Jiang,H. and Sun,X.
  TITLE     Downregulation of developmentally regulated endothelial cell
            locus-1 inhibits the growth of colon cancer
  JOURNAL   J Biomed Sci 16 (1), 33 (2009)
   PUBMED   19292890
  REMARK    GeneRIF: Downregulation of developmentally regulated endothelial
            cell locus-1 inhibits the growth of colon cancer.
REFERENCE   8  (bases 1 to 4814)
  AUTHORS   Niu,J.X., Zhang,W.J., Ye,L.Y., Wu,L.Q., Zhu,G.J., Yang,Z.H.,
            Grau,G.E. and Lou,J.N.
  TITLE     The role of adhesion molecules, alpha v beta 3, alpha v beta 5 and
            their ligands in the tumor cell and endothelial cell adhesion
  JOURNAL   Eur J Cancer Prev 16 (6), 517-527 (2007)
   PUBMED   18090124
  REMARK    GeneRIF: Alpha v beta 5, alpha v beta 5 and their ligands Del-1 and
            L1 play an important role in the process of tumor cells moving from
            the original place.
REFERENCE   9  (bases 1 to 4814)
  AUTHORS   Aoka,Y., Johnson,F.L., Penta,K., Hirata Ki,K., Hidai,C.,
            Schatzman,R., Varner,J.A. and Quertermous,T.
  TITLE     The embryonic angiogenic factor Del1 accelerates tumor growth by
            enhancing vascular formation
  JOURNAL   Microvasc Res 64 (1), 148-161 (2002)
   PUBMED   12074641
  REMARK    GeneRIF: acts as an angiogenic factor in the context of solid tumor
            formation; the increase in vascularization accelerates tumor growth
            through decreased apoptosis
REFERENCE   10 (bases 1 to 4814)
  AUTHORS   Hidai,C., Zupancic,T., Penta,K., Mikhail,A., Kawana,M.,
            Quertermous,E.E., Aoka,Y., Fukagawa,M., Matsui,Y., Platika,D.,
            Auerbach,R., Hogan,B.L., Snodgrass,R. and Quertermous,T.
  TITLE     Cloning and characterization of developmental endothelial locus-1:
            an embryonic endothelial cell protein that binds the alphavbeta3
            integrin receptor
  JOURNAL   Genes Dev 12 (1), 21-33 (1998)
   PUBMED   9420328
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026440.4, ES308783.1,
            BC030828.1, U70312.1, AC093296.2 and BQ101116.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005711.4.
            
            Summary: The protein encoded by this gene is an integrin ligand. It
            plays an important role in mediating angiogenesis and may be
            important in vessel wall remodeling and development. It also
            influences endothelial cell behavior. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR1660803.58119.1,
                                           SRR1660803.12598.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296591.10/ ENSP00000296591.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC026440.4         7249-7261
            14-87               ES308783.1         1-74
            88-551              BC030828.1         1-464
            552-2106            U70312.1           156-1710
            2107-4585           AC093296.2         17047-19525
            4586-4773           BQ101116.1         1-188
            4774-4814           AC093296.2         19714-19754
FEATURES             Location/Qualifiers
     source          1..4814
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.3"
     gene            1..4814
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /note="EGF like repeats and discoidin domains 3"
                     /db_xref="GeneID:10085"
                     /db_xref="HGNC:HGNC:3173"
                     /db_xref="MIM:606018"
     exon            1..573
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             507..1949
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; developmental endothelial locus-1; EGF-like
                     repeat and discoidin I-like domain-containing protein 3;
                     integrin-binding protein DEL1; developmentally-regulated
                     endothelial cell locus 1 protein; EGF-like repeats and
                     discoidin I-like domains 3"
                     /codon_start=1
                     /product="EGF-like repeat and discoidin I-like
                     domain-containing protein 3 isoform 1 precursor"
                     /protein_id="NP_005702.3"
                     /db_xref="CCDS:CCDS4062.1"
                     /db_xref="GeneID:10085"
                     /db_xref="HGNC:HGNC:3173"
                     /db_xref="MIM:606018"
                     /translation="MKRSVAVWLLVGLSLGVPQFGKGDICDPNPCENGGICLPGLADG
                     SFSCECPDGFTDPNCSSVVEVASDEEEPTSAGPCTPNPCHNGGTCEISEAYRGDTFIG
                     YVCKCPRGFNGIHCQHNINECEVEPCKNGGICTDLVANYSCECPGEFMGRNCQYKCSG
                     PLGIEGGIISNQQITASSTHRALFGLQKWYPYYARLNKKGLINAWTAAENDRWPWIQI
                     NLQRKMRVTGVITQGAKRIGSPEYIKSYKIAYSNDGKTWAMYKVKGTNEDMVFRGNID
                     NNTPYANSFTPPIKAQYVRLYPQVCRRHCTLRMELLGCELSGCSEPLGMKSGHIQDYQ
                     ITASSIFRTLNMDMFTWEPRKARLDKQGKVNAWTSGHNDQSQWLQVDLLVPTKVTGII
                     TQGAKDFGHVQFVGSYKLAYSNDGEHWTVYQDEKQRKDKVFQGNFDNDTHRKNVIDPP
                     IYARHIRILPWSWYGRITLRSELLGCTEEE"
     exon            574..702
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /inference="alignment:Splign:2.1.0"
     exon            703..732
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /inference="alignment:Splign:2.1.0"
     exon            733..861
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /inference="alignment:Splign:2.1.0"
     exon            862..975
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1157
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1158..1313
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1458
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1643
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1644..1799
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1800..4814
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4751..4756
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /note="hexamer: AATAAA"
     polyA_site      4773
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /note="major polyA site"
     regulatory      4793..4798
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
                     /note="hexamer: ATTAAA"
     polyA_site      4814
                     /gene="EDIL3"
                     /gene_synonym="DEL1"
ORIGIN      
        1 acacgcacgc cgcctctgtt tgtacacagt gcgctcccgg cggcccgctc gctcccctcc
       61 agctcacgct tcattgttct ccaagtcaga agccccgcag ccgccgcgcg gagaacagcg
      121 acagccgagc gcccggtccg cctgtctgcc ggtgggtctg cctgcccgcg cagcagaccc
      181 ggggcggccg cgggagcccg cgccccgccc gccgcgcctc tgccgggacc cacccgcagc
      241 ggagggctga gcccgccggc ggctccccgg agctcaccca cctccgcgcg ccggagcgca
      301 ggcaaaaggg gaggaaaggc tcctctcttt agtcaccact ctcgccctct ccaagaattt
      361 gtttaacaaa gcgctgagga aagagaacgt cttcttgaat tctttagtag gggcggagtc
      421 tgctgctgcc ctgcgctgcc acctcggcta cactgccctc cgcgacgacc cctgaccagc
      481 cggggtcacg tccgggagac gggatcatga agcgctcggt agccgtctgg ctcttggtcg
      541 ggctcagcct cggtgtcccc cagttcggca aaggtgatat ttgtgatccc aatccatgtg
      601 aaaatggagg tatctgtttg ccaggattgg ctgatggttc cttttcctgt gagtgtccag
      661 atggcttcac agaccccaac tgttctagtg ttgtggaggt tgcatcagat gaagaagaac
      721 caacttcagc aggtccctgc actcctaatc catgccataa tggaggaacc tgtgaaataa
      781 gtgaagcata ccgaggggat acattcatag gctatgtttg taaatgtccc cgaggattta
      841 atgggattca ctgtcagcac aacataaatg aatgcgaagt tgagccttgc aaaaatggtg
      901 gaatatgtac agatcttgtt gctaactatt cctgtgagtg cccaggcgaa tttatgggaa
      961 gaaattgtca atacaaatgc tcaggcccac tgggaattga aggtggaatt atatcaaacc
     1021 agcaaatcac agcttcctct actcaccgag ctctttttgg actccaaaaa tggtatccct
     1081 actatgcacg tcttaataag aaggggctta taaatgcgtg gacagctgca gaaaatgaca
     1141 gatggccgtg gattcagata aatttgcaaa ggaaaatgag agttactggt gtgattaccc
     1201 aaggagccaa gaggattgga agcccagagt atataaaatc ctacaaaatt gcctacagta
     1261 atgatggaaa gacttgggca atgtacaaag tgaaaggcac caatgaagac atggtgtttc
     1321 gtggaaacat tgataacaac actccatatg ctaactcttt cacacccccc ataaaagctc
     1381 agtatgtaag actctatccc caagtttgtc gaagacattg cactttgcga atggaacttc
     1441 ttggctgtga actgtcgggt tgttctgagc ctctgggtat gaaatcagga catatacaag
     1501 actatcagat cactgcctcc agcatcttca gaacgctcaa catggacatg ttcacttggg
     1561 aaccaaggaa agctcggctg gacaagcaag gcaaagtgaa tgcctggacc tctggccaca
     1621 atgaccagtc acaatggtta caggtggatc ttcttgttcc aaccaaagtg actggcatca
     1681 ttacacaagg agctaaagat tttggtcatg tacagtttgt tggctcctac aaactggctt
     1741 acagcaatga tggagaacac tggactgtat accaggatga aaagcaaaga aaagataagg
     1801 ttttccaggg aaattttgac aatgacactc acagaaaaaa tgtcatcgac cctcccatct
     1861 atgcacgaca cataagaatc cttccttggt cctggtacgg gaggatcaca ttgcggtcag
     1921 agctgctggg ctgcacagag gaggaatgag gggaggctac atttcacaac cctcttccct
     1981 atttccctaa aagtatctcc atggaatgaa ctgtgcaaaa tctgtaggaa actgaatggt
     2041 tttttttttt ttttcatgaa aaagtgctca aattatggta ggcaactaac ggtgttttta
     2101 agggggtcta agcctgcctt ttcaatgatt taatttgatt ttattttatc cgtcaaatct
     2161 cttaagtaac aacacattaa gtgtgaatta cttttctctc attgtttcct gaattattcg
     2221 cattggtaga aatatattag ggaaagaaag tagccttctt tttatagcaa gagtaaaaaa
     2281 gtctcaaagt catcaaataa gagcaagagt tgatagagct tttacaatca atactcacct
     2341 aattctgata aaaggaatac tgcaatgtta gcaataagtt tttttcttct gtaatgactc
     2401 tacgttatcc tgtttccctg tgcctaccaa acactgtcaa tgtttattac aaaattttaa
     2461 agaagaatat gtaacatgca gtactgatat tataattctc attttacttt cattatttct
     2521 aataagagat tatgtgactt ctttttcttt tagttctatt ctacattctt aatattgtat
     2581 attacctgaa taattcaatt tttttctaat tgaatttcct attagttgac taaaagaagt
     2641 gtcatgttta ctcatatatg tagaacatga ctgcctatca gtagattgat ctgtatttaa
     2701 tattcgttaa ttaaatctgc agttttattt ttgaaggaag ccataactat ttaatttcca
     2761 aataattgct tcataaagaa tcccatactc tcagtttgca caaaagaaca aaaaatatat
     2821 atgtctcttt aaatttaaat cttcatttag atggtaatta catatcctta tatttacttt
     2881 aaaaaatcgg cttatttgtt tattttataa aaaatttagc aaagaaatat taatatagtg
     2941 ctgcatagtt tggccaagca tactcatcat ttctttgttc agctccacat ttcctgtgaa
     3001 actaacatct tattgagatt tgaaactggt ggtagtttcc caggaaggca caggtggagt
     3061 tatttgtgag aagcaaagtg tttactaatg acaaagtagt aaaccatttt caagatgaaa
     3121 actgatttct atttattttg cttcaaaggt cctgaaaaaa taagcaatta tcataacaat
     3181 ttgttattga tactggaggt ttcattgaca tgtctctcaa attaaagctc acactgcctc
     3241 cataaaagtc ttcaacatct aatttataag ctttacaagt atttatttta taaggcttag
     3301 acagaattat tggagtttta aattaagtgt attggaaaag aaaggatggt atgtgtatga
     3361 aatgttaaga tcctacgcaa cactgctatt tttttccttt aatatttgtg ctgcataaca
     3421 aaagccacta gactgttact gtcttgtctg tccatgtgtt aacagcattt cttaatgatg
     3481 tatatatgga gtggtcttca atcatagtga agaatttaaa gagaaagtca attgtattgg
     3541 catttttaat aagaacaaaa ttagttcgtc taaggggact ggctggccac atatttgttc
     3601 cttgcccata tgctttctac ttcttgttct tattatgaaa ttatgaattt gaagcctctg
     3661 aaatggtgat cagttttcaa catctttcaa aaacaaaatt actatttcct ccatattgcc
     3721 ttttttagat aactttaaag ttaggatttt aaaatatttg taactggcta aattttaaag
     3781 tcgtgacaaa taattactta ggttcagaaa tatacacaca cttactcttt agccagtttc
     3841 tttcaaggtt tactgtccca tcagatatct agccattttc ctttgcaaat tacatacctt
     3901 cttaagagtg tatttttaag attattactt acgctttatg atgatatagt ttttcaaaat
     3961 tatttatagc ttcatatgat gttttgtaat tttttctatt gatacctgtt ttaaaaatat
     4021 tttccaagga agttgattaa aattatattt gttacctttt agaaaaagca ttgaaatgag
     4081 tttctcttgc tttttcattt tccctctgct ttatatgctc ttcgcaatac atcatgtcca
     4141 acgggatacc tattgttctc atgacaccca aaattgatga gagcaaaggg gtcgcaccat
     4201 atggaaatgt tgaaaactat tgtaaagtag tattatgaag tagcttttgt gtcattcatg
     4261 tcgatgacat gaaagtgaag taaatttatt ctatgtaaat tcacactaaa accagtacag
     4321 taccataagt agaatacatg taagaatcac ctagtcttca ctatattgag taaatataac
     4381 atgctaattt tacaattaat gaaactaaac ttttaaacat ctccattata tctacatcct
     4441 tttgaaggta tttatcatag ttgccaattt taattttagg attgactttc tctttctgaa
     4501 tgacttcata aagtttggtg tgaattttga agacttgggt tactaatgat tgtatctttg
     4561 ctagtcaaca acttatgaaa tatactcaat gcgtctgatg tgtcattaag tgcagaaata
     4621 actaagacac aaataacctt tgcaaacctt caagctgtgt aatattccaa tgttgttttt
     4681 ttctttgtat atatacttat atcacgtagg atgtaaaacc agtatgacct tgtctagtct
     4741 ccaaacttaa aataaacttt tgaaaagctg ggattctttt gaagcagttg taattaaaca
     4801 catttataag aata
//
