LOCUS       NM_001033047            4561 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens nephronectin (NPNT), transcript variant 2, mRNA.
ACCESSION   NM_001033047
VERSION     NM_001033047.3
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 4561)
  AUTHORS   Wang,P., Zhang,Y., Lv,X., Zhou,J., Cang,S. and Song,Y.
  TITLE     LncRNA ADAMTS9-AS1 inhibits the stemness of lung adenocarcinoma
            cells by regulating miR-5009-3p/NPNT axis
  JOURNAL   Genomics 115 (3), 110596 (2023)
   PUBMED   36870548
  REMARK    GeneRIF: LncRNA ADAMTS9-AS1 inhibits the stemness of lung
            adenocarcinoma cells by regulating miR-5009-3p/NPNT axis.
REFERENCE   2  (bases 1 to 4561)
  AUTHORS   Al-Hamed,M.H., Sayer,J.A., Alsahan,N., Edwards,N., Ali,W.,
            Tulbah,M. and Imtiaz,F.
  TITLE     Missense Variants in GFRA1 and NPNT Are Associated with Congenital
            Anomalies of the Kidney and Urinary Tract
  JOURNAL   Genes (Basel) 13 (10), 1687 (2022)
   PUBMED   36292572
  REMARK    GeneRIF: Missense Variants in <i>GFRA1</i> and <i>NPNT</i> Are
            Associated with Congenital Anomalies of the Kidney and Urinary
            Tract.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4561)
  AUTHORS   Al-Hamed,M.H., Altuwaijri,N., Alsahan,N., Ali,W., Abdulwahab,F.,
            Alzahrani,F., Majrashi,N. and Alkuraya,F.S.
  TITLE     A null founder variant in NPNT, encoding nephronectin, causes
            autosomal recessive renal agenesis
  JOURNAL   Clin Genet 102 (1), 61-65 (2022)
   PUBMED   35246978
  REMARK    GeneRIF: A null founder variant in NPNT, encoding nephronectin,
            causes autosomal recessive renal agenesis.
REFERENCE   4  (bases 1 to 4561)
  AUTHORS   Huang,L., Guan,S., Feng,L., Wei,J. and Wu,L.
  TITLE     Integrated analysis identified NPNT as a potential key regulator in
            tumor metastasis of hepatocellular carcinoma
  JOURNAL   Gene 825, 146436 (2022)
   PUBMED   35304239
  REMARK    GeneRIF: Integrated analysis identified NPNT as a potential key
            regulator in tumor metastasis of hepatocellular carcinoma.
REFERENCE   5  (bases 1 to 4561)
  AUTHORS   Muller-Deile,J., Sopel,N., Ohs,A., Rose,V., Groner,M., Wrede,C.,
            Hegermann,J., Daniel,C., Amann,K., Zahner,G. and Schiffer,M.
  TITLE     Glomerular Endothelial Cell-Derived microRNA-192 Regulates
            Nephronectin Expression in Idiopathic Membranous Glomerulonephritis
  JOURNAL   J Am Soc Nephrol 32 (11), 2777-2794 (2021)
   PUBMED   34716242
  REMARK    GeneRIF: Glomerular Endothelial Cell-Derived microRNA-192 Regulates
            Nephronectin Expression in Idiopathic Membranous
            Glomerulonephritis.
REFERENCE   6  (bases 1 to 4561)
  AUTHORS   Kahai,S., Lee,S.C., Lee,D.Y., Yang,J., Li,M., Wang,C.H., Jiang,Z.,
            Zhang,Y., Peng,C. and Yang,B.B.
  TITLE     MicroRNA miR-378 regulates nephronectin expression modulating
            osteoblast differentiation by targeting GalNT-7
  JOURNAL   PLoS One 4 (10), e7535 (2009)
   PUBMED   19844573
  REMARK    GeneRIF: MicroRNA miR-378 regulates nephronectin expression
            modulating osteoblast differentiation by targeting GalNT-7
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4561)
  AUTHORS   Gonzalez-Begne,M., Lu,B., Han,X., Hagen,F.K., Hand,A.R.,
            Melvin,J.E. and Yates,J.R.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   8  (bases 1 to 4561)
  AUTHORS   Huang,J.T. and Lee,V.
  TITLE     Identification and characterization of a novel human nephronectin
            gene in silico
  JOURNAL   Int J Mol Med 15 (4), 719-724 (2005)
   PUBMED   15754038
REFERENCE   9  (bases 1 to 4561)
  AUTHORS   Brandenberger,R., Schmidt,A., Linton,J., Wang,D., Backus,C.,
            Denda,S., Muller,U. and Reichardt,L.F.
  TITLE     Identification and characterization of a novel extracellular matrix
            protein nephronectin that is associated with integrin alpha8beta1
            in the embryonic kidney
  JOURNAL   J Cell Biol 154 (2), 447-458 (2001)
   PUBMED   11470831
REFERENCE   10 (bases 1 to 4561)
  AUTHORS   Miner,J.H.
  TITLE     Mystery solved: discovery of a novel integrin ligand in the
            developing kidney
  JOURNAL   J Cell Biol 154 (2), 257-259 (2001)
   PUBMED   11470814
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK295772.1, AK290029.1, AW607534.1 and AC109361.4.
            
            On Jun 2, 2019 this sequence version replaced NM_001033047.2.
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            5' coding region, compared to variant 1, and encodes a shorter
            protein (isoform B), compared to isoform A. This variant is also
            known as 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 :: SRR1803616.42703.1,
                                           SRR1660807.41618.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379987.7/ ENSP00000369323.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                AK295772.1         32-53
            23-881              AK290029.1         1-859
            882-882             AW607534.1         210-210
            883-2392            AK290029.1         861-2370
            2393-4561           AC109361.4         47177-49345
FEATURES             Location/Qualifiers
     source          1..4561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     gene            1..4561
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="nephronectin"
                     /db_xref="GeneID:255743"
                     /db_xref="HGNC:HGNC:27405"
                     /db_xref="MIM:610306"
     exon            1..253
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     CDS             183..1880
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="isoform B precursor is encoded by transcript
                     variant 2; preosteoblast EGF-like repeat protein with MAM
                     domain"
                     /codon_start=1
                     /product="nephronectin isoform B precursor"
                     /protein_id="NP_001028219.1"
                     /db_xref="CCDS:CCDS34046.1"
                     /db_xref="GeneID:255743"
                     /db_xref="HGNC:HGNC:27405"
                     /db_xref="MIM:610306"
                     /translation="MDFLLALVLVSSLYLQAAAEFDGRWPRQIVSSIGLCRYGGRIDC
                     CWGWARQSWGQCQPVCQPRCKHGECIGPNKCKCHPGYAGKTCNQDLNECGLKPRPCKH
                     RCMNTYGSYKCYCLNGYMLMPDGSCSSALTCSMANCQYGCDVVKGQIRCQCPSPGLQL
                     APDGRTCVDVDECATGRASCPRFRQCVNTFGSYICKCHKGFDLMYIGGKYQCHDIDEC
                     SLGQYQCSSFARCYNIRGSYKCKCKEGYQGDGLTCVYIPKVMIEPSGPIHVPKGNGTI
                     LKGDTGNNNWIPDVGSTWWPPKTPYIPPIITNRPTSKPTTRPTPKPTPIPTPPPPPPL
                     PTELRTPLPPTTPERPTTGLTTIAPAASTPPGGITVDNRVQTDPQKPRGDVFIPRQPS
                     NDLFEIFEIERGVSADDEAKDDPGVLVHSCNFDHGLCGWIREKDNDLHWEPIRDPAGG
                     QYLTVSAAKAPGGKAARLVLPLGRLMHSGDLCLSFRHKVTGLHSGTLQVFVRKHGAHG
                     AALWGRNGGHGWRQTQITLRGADIKSVVFKGEKRRGHTGEIGLDDVSLKKGHCSEER"
     exon            254..354
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            355..447
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            448..567
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            568..687
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            688..822
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            823..945
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            946..1341
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..1428
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1527
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..1784
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..4561
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4540..4545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="hexamer: AATAAA"
     polyA_site      4561
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="major polyA site"
ORIGIN      
        1 gcgcagcaga cctgctccgg ccgcgcgcct cgccgctgtc ctccgggagc ggcagcagta
       61 gcccgggcgg cgagggctgg gggttcctcg agactctcag aggggcgcct cccatcggcg
      121 cccaccaccc caacctgttc ctcgcgcgcc actgcgctgc gccccaggac ccgctgccca
      181 acatggattt tctcctggcg ctggtgctgg tatcctcgct ctacctgcag gcggccgccg
      241 agttcgacgg gaggtggccc aggcaaatag tgtcatcgat tggcctatgt cgttatggtg
      301 ggaggattga ctgctgctgg ggctgggctc gccagtcttg gggacagtgt cagcctgtgt
      361 gccaaccacg atgcaaacat ggtgaatgta tcgggccaaa caagtgcaag tgtcatcctg
      421 gttatgctgg aaaaacctgt aatcaagatc taaatgagtg tggcctgaag ccccggccct
      481 gtaagcacag gtgcatgaac acttacggca gctacaagtg ctactgtctc aacggatata
      541 tgctcatgcc ggatggttcc tgctcaagtg ccctgacctg ctccatggca aactgtcagt
      601 atggctgtga tgttgttaaa ggacaaatac ggtgccagtg cccatcccct ggcctgcagc
      661 tggctcctga tgggaggacc tgtgtagatg ttgatgaatg tgctacagga agagcctcct
      721 gccctagatt taggcaatgt gtcaacactt ttgggagcta catctgcaag tgtcataaag
      781 gcttcgatct catgtatatt ggaggcaaat atcaatgtca tgacatagac gaatgctcac
      841 ttggtcagta tcagtgcagc agctttgctc gatgttataa catacgtggg tcctacaagt
      901 gcaaatgtaa agaaggatac cagggtgatg gactgacttg tgtgtatatc ccaaaagtta
      961 tgattgaacc ttcaggtcca attcatgtac caaagggaaa tggtaccatt ttaaagggtg
     1021 acacaggaaa taataattgg attcctgatg ttggaagtac ttggtggcct ccgaagacac
     1081 catatattcc tcctatcatt accaacaggc ctacttctaa gccaacaaca agacctacac
     1141 caaagccaac accaattcct actccaccac caccaccacc cctgccaaca gagctcagaa
     1201 cacctctacc acctacaacc ccagaaaggc caaccaccgg actgacaact atagcaccag
     1261 ctgccagtac acctccagga gggattacag ttgacaacag ggtacagaca gaccctcaga
     1321 aacccagagg agatgtgttc attccacggc aaccttcaaa tgacttgttt gaaatatttg
     1381 aaatagaaag aggagtcagt gcagacgatg aagcaaagga tgatccaggt gttctggtac
     1441 acagttgtaa ttttgaccat ggactttgtg gatggatcag ggagaaagac aatgacttgc
     1501 actgggaacc aatcagggac ccagcaggtg gacaatatct gacagtgtcg gcagccaaag
     1561 ccccaggggg aaaagctgca cgcttggtgc tacctctcgg ccgcctcatg cattcagggg
     1621 acctgtgcct gtcattcagg cacaaggtga cggggctgca ctctggcaca ctccaggtgt
     1681 ttgtgagaaa acacggtgcc cacggagcag ccctgtgggg aagaaatggt ggccatggct
     1741 ggaggcaaac acagatcacc ttgcgagggg ctgacatcaa gagcgtcgtc ttcaaaggtg
     1801 aaaaaaggcg tggtcacact ggggagattg gattagatga tgtgagcttg aaaaaaggcc
     1861 actgctctga agaacgctaa caactccaga actaacaatg aactcctatg ttgctctatc
     1921 ctctttttcc aattctcatc ttctctcctc ttctcccttt tatcaggcct aggagaagag
     1981 tgggtcagtg ggtcagaagg aagtctattt ggtgacccag gtttttctgg cctgcttttg
     2041 tgcaatccca atgaacagtg ataccctcct tgaaatacag gggcatcgca gacacatcaa
     2101 agccatctgt gggtgttgcc ttccatcctg tgtctctttc aggaaggcat tcagcatgcg
     2161 tgagccatac catcctccat cctgattaca aggtgctcct tgtagcaaat tatgagagtg
     2221 agttacggga gcagttttta aaagaaatct ttgcagatgg ctatgatgtt atgtgttcgg
     2281 tgttgtacca tgagtagtat tgacttccct tgagatatga tgtacaatgt gcttgtgaaa
     2341 ttgacttacc ctcttcactt aagttagttc tggcctgacc tgaactctga cttttactgc
     2401 cattcacttt ataaaataag ggtgtgtaac atatcaagat acatttattt ttatctgttt
     2461 tttttttcct gttaaagaca attatgtaga gtgggcacgt aatccctcct tagtagtatt
     2521 gtgttttgtg taaatgtgct attgatatta agtatttaca tgttccaaat atttacagac
     2581 tctagttgca aggtaaaggg cagcttgtga tctcaaaaaa atacatggtg aaatgtcatc
     2641 cagttccatg accttatatt ggcagcagta ggaaattggc agaagtgttg ggttgtggta
     2701 acggagtgat gaattttttt ttaatggcct tgagtttgat ctctgcaaag gataggaaac
     2761 ctttaggaag acaagaaact gcagttaatt tagaactgtc actgtttcaa gttacacttt
     2821 aaaaccacag cttttaccat cataacatgg ctctggtaat atgtaggaag ctttataaaa
     2881 gttttggttg attcagaaaa aggatcctgt tgcagagtga gaggaagcat agggggaaac
     2941 tccattggaa cagattttca cacaacgttt taaattgata taagtttagg cagttgtagt
     3001 tcataactta tgttgctcat gttgtgctgt gtcaggatgg gataggaagc aagtcccatg
     3061 cttagaggca tgggatgtgt tggaacggga tttacacaca ctggaggagc agggcaagtt
     3121 ggaattctaa gatccatgaa cccccaactg tatttcctcc ctgcatattt taccaatata
     3181 ttaaaaaaca atgtaacttt taaaaggcat cattcctgag gtttgtctta atttctgatt
     3241 aagtaatcag aatattttct gctatttttg ccaggaatca caaagatgat taaagggttg
     3301 gaaaaaaaga tctatgatgg aaaattaaag gaactgggat tattgagcct ggagaagaga
     3361 agactgaggg gcaaaccatt gatggttttc aagtatatga agggttggca cagagagggt
     3421 ggcgaccagc tgttctccat atgcactaag aatagaacaa gaggaaactg gcttagacta
     3481 gagtataagg gagcatttct tggcaggggc cattgttaga atacttcata aaaaaagaag
     3541 tgtgaaaatc tcagtatctc tctctctttc taaaaaatta gataaaaatt tgtctattta
     3601 agatggttaa agatgttctt acccaaggaa aagtaacaaa ttatagaatt tcccaaaaga
     3661 tgttttgatc ctactagtag tatgcagtga aaatctttag aactaaataa tttggacaag
     3721 gcttaattta ggcatttccc tcttgacctc ctaatggaga gggattgaaa ggggaagagc
     3781 ccaccaaatg ctgagctcac tgaaatatct ctcccttatg gcaatcctag cagtattaaa
     3841 gaaaaaagga aactatttat tccaaatgag agtatgatgg acagatattt tagtatctca
     3901 gtaatgtcct agtgtggcgg tggttttcaa tgtttcttca tgttaaaggt ataagccttt
     3961 catttgttca atggatgatg tttcagattt tttttttttt aagagatcct tcaaggaaca
     4021 cagttcagag agattttcat cgggtgcatt ctctctgctt cgtgtgtgac aagttatctt
     4081 ggctgctgag aaagagtgcc ctgccccaca ccggcagacc tttccttcac ctcatcagta
     4141 tgattcagtt tctcttatca attggactct cccaggttcc acagaacagt aatatttttt
     4201 gaacaatagg tacaatagaa ggtcttctgt catttaacct ggtaaaggca gggctggagg
     4261 gggaaaataa atcattaagc ctttgagtaa cggcagaata tatggctgta gatccatttt
     4321 taatggttca tttcctttat ggtcatataa ctgcacagct gaagatgaaa ggggaaaata
     4381 aatgaaaatt ttacttttcg atgccaatga tacattgcac taaactgatg gaagaagtta
     4441 tccaaagtac tgtataacat cttgtttatt atttaatgtt ttctaaaata aaaaatgtta
     4501 gtggttttcc aaatggccta ataaaaacaa ttatttgtaa ataaaaacac tgttagtaat
     4561 a
//
