LOCUS       NM_001184690            4612 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens nephronectin (NPNT), transcript variant 1, mRNA.
ACCESSION   NM_001184690
VERSION     NM_001184690.2
KEYWORDS    RefSeq.
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 4612)
  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 4612)
  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 4612)
  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 4612)
  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 4612)
  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 4612)
  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 4612)
  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 4612)
  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 4612)
  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 4612)
  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, AW607534.1 and AC109361.4.
            
            On Jun 2, 2019 this sequence version replaced NM_001184690.1.
            
            Transcript Variant: This variant (1) encodes a protein (isoform A)
            of 582 amino acids.
            
            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 :: SRR1803616.122541.1,
                                           SRR1803611.66636.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-932               AK295772.1         32-963
            933-933             AW607534.1         210-210
            934-2388            AK295772.1         965-2419
            2389-4612           AC109361.4         47122-49345
FEATURES             Location/Qualifiers
     source          1..4612
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     gene            1..4612
                     /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..1931
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="isoform A precursor is encoded by transcript
                     variant 1; preosteoblast EGF-like repeat protein with MAM
                     domain"
                     /codon_start=1
                     /product="nephronectin isoform A precursor"
                     /protein_id="NP_001171619.1"
                     /db_xref="CCDS:CCDS54784.1"
                     /db_xref="GeneID:255743"
                     /db_xref="HGNC:HGNC:27405"
                     /db_xref="MIM:610306"
                     /translation="MDFLLALVLVSSLYLQAAAEFDGRWPRQIVSSIGLCRYGGRIDC
                     CWGWARQSWGQCQPFYVLRQRIARIRCQLKAVCQPRCKHGECIGPNKCKCHPGYAGKT
                     CNQDLNECGLKPRPCKHRCMNTYGSYKCYCLNGYMLMPDGSCSSALTCSMANCQYGCD
                     VVKGQIRCQCPSPGLQLAPDGRTCVDVDECATGRASCPRFRQCVNTFGSYICKCHKGF
                     DLMYIGGKYQCHDIDECSLGQYQCSSFARCYNIRGSYKCKCKEGYQGDGLTCVYIPKV
                     MIEPSGPIHVPKGNGTILKGDTGNNNWIPDVGSTWWPPKTPYIPPIITNRPTSKPTTR
                     PTPKPTPIPTPPPPPPLPTELRTPLPPTTPERPTTGLTTIAPAASTPPGGITVDNRVQ
                     TDPQKPRGDVFIPRQPSNDLFEIFEIERGVSADDEAKDDPGVLVHSCNFDHGLCGWIR
                     EKDNDLHWEPIRDPAGGQYLTVSAAKAPGGKAARLVLPLGRLMHSGDLCLSFRHKVTG
                     LHSGTLQVFVRKHGAHGAALWGRNGGHGWRQTQITLRGADIKSVVFKGEKRRGHTGEI
                     GLDDVSLKKGHCSEER"
     exon            254..354
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            355..405
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            406..498
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            499..618
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            619..738
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            739..873
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            874..996
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1392
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1479
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            1480..1578
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..1835
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     exon            1836..4612
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4591..4596
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /note="hexamer: AATAAA"
     polyA_site      4612
                     /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 cagcctttct
      361 acgtcttaag gcagagaata gccaggataa ggtgccagct caaagctgtg tgccaaccac
      421 gatgcaaaca tggtgaatgt atcgggccaa acaagtgcaa gtgtcatcct ggttatgctg
      481 gaaaaacctg taatcaagat ctaaatgagt gtggcctgaa gccccggccc tgtaagcaca
      541 ggtgcatgaa cacttacggc agctacaagt gctactgtct caacggatat atgctcatgc
      601 cggatggttc ctgctcaagt gccctgacct gctccatggc aaactgtcag tatggctgtg
      661 atgttgttaa aggacaaata cggtgccagt gcccatcccc tggcctgcag ctggctcctg
      721 atgggaggac ctgtgtagat gttgatgaat gtgctacagg aagagcctcc tgccctagat
      781 ttaggcaatg tgtcaacact tttgggagct acatctgcaa gtgtcataaa ggcttcgatc
      841 tcatgtatat tggaggcaaa tatcaatgtc atgacataga cgaatgctca cttggtcagt
      901 atcagtgcag cagctttgct cgatgttata acatacgtgg gtcctacaag tgcaaatgta
      961 aagaaggata ccagggtgat ggactgactt gtgtgtatat cccaaaagtt atgattgaac
     1021 cttcaggtcc aattcatgta ccaaagggaa atggtaccat tttaaagggt gacacaggaa
     1081 ataataattg gattcctgat gttggaagta cttggtggcc tccgaagaca ccatatattc
     1141 ctcctatcat taccaacagg cctacttcta agccaacaac aagacctaca ccaaagccaa
     1201 caccaattcc tactccacca ccaccaccac ccctgccaac agagctcaga acacctctac
     1261 cacctacaac cccagaaagg ccaaccaccg gactgacaac tatagcacca gctgccagta
     1321 cacctccagg agggattaca gttgacaaca gggtacagac agaccctcag aaacccagag
     1381 gagatgtgtt cattccacgg caaccttcaa atgacttgtt tgaaatattt gaaatagaaa
     1441 gaggagtcag tgcagacgat gaagcaaagg atgatccagg tgttctggta cacagttgta
     1501 attttgacca tggactttgt ggatggatca gggagaaaga caatgacttg cactgggaac
     1561 caatcaggga cccagcaggt ggacaatatc tgacagtgtc ggcagccaaa gccccagggg
     1621 gaaaagctgc acgcttggtg ctacctctcg gccgcctcat gcattcaggg gacctgtgcc
     1681 tgtcattcag gcacaaggtg acggggctgc actctggcac actccaggtg tttgtgagaa
     1741 aacacggtgc ccacggagca gccctgtggg gaagaaatgg tggccatggc tggaggcaaa
     1801 cacagatcac cttgcgaggg gctgacatca agagcgtcgt cttcaaaggt gaaaaaaggc
     1861 gtggtcacac tggggagatt ggattagatg atgtgagctt gaaaaaaggc cactgctctg
     1921 aagaacgcta acaactccag aactaacaat gaactcctat gttgctctat cctctttttc
     1981 caattctcat cttctctcct cttctccctt ttatcaggcc taggagaaga gtgggtcagt
     2041 gggtcagaag gaagtctatt tggtgaccca ggtttttctg gcctgctttt gtgcaatccc
     2101 aatgaacagt gataccctcc ttgaaataca ggggcatcgc agacacatca aagccatctg
     2161 tgggtgttgc cttccatcct gtgtctcttt caggaaggca ttcagcatgc gtgagccata
     2221 ccatcctcca tcctgattac aaggtgctcc ttgtagcaaa ttatgagagt gagttacggg
     2281 agcagttttt aaaagaaatc tttgcagatg gctatgatgt tatgtgttcg gtgttgtacc
     2341 atgagtagta ttgacttccc ttgagatatg atgtacaatg tgcttgtgaa attgacttac
     2401 cctcttcact taagttagtt ctggcctgac ctgaactctg acttttactg ccattcactt
     2461 tataaaataa gggtgtgtaa catatcaaga tacatttatt tttatctgtt ttttttttcc
     2521 tgttaaagac aattatgtag agtgggcacg taatccctcc ttagtagtat tgtgttttgt
     2581 gtaaatgtgc tattgatatt aagtatttac atgttccaaa tatttacaga ctctagttgc
     2641 aaggtaaagg gcagcttgtg atctcaaaaa aatacatggt gaaatgtcat ccagttccat
     2701 gaccttatat tggcagcagt aggaaattgg cagaagtgtt gggttgtggt aacggagtga
     2761 tgaatttttt tttaatggcc ttgagtttga tctctgcaaa ggataggaaa cctttaggaa
     2821 gacaagaaac tgcagttaat ttagaactgt cactgtttca agttacactt taaaaccaca
     2881 gcttttacca tcataacatg gctctggtaa tatgtaggaa gctttataaa agttttggtt
     2941 gattcagaaa aaggatcctg ttgcagagtg agaggaagca tagggggaaa ctccattgga
     3001 acagattttc acacaacgtt ttaaattgat ataagtttag gcagttgtag ttcataactt
     3061 atgttgctca tgttgtgctg tgtcaggatg ggataggaag caagtcccat gcttagaggc
     3121 atgggatgtg ttggaacggg atttacacac actggaggag cagggcaagt tggaattcta
     3181 agatccatga acccccaact gtatttcctc cctgcatatt ttaccaatat attaaaaaac
     3241 aatgtaactt ttaaaaggca tcattcctga ggtttgtctt aatttctgat taagtaatca
     3301 gaatattttc tgctattttt gccaggaatc acaaagatga ttaaagggtt ggaaaaaaag
     3361 atctatgatg gaaaattaaa ggaactggga ttattgagcc tggagaagag aagactgagg
     3421 ggcaaaccat tgatggtttt caagtatatg aagggttggc acagagaggg tggcgaccag
     3481 ctgttctcca tatgcactaa gaatagaaca agaggaaact ggcttagact agagtataag
     3541 ggagcatttc ttggcagggg ccattgttag aatacttcat aaaaaaagaa gtgtgaaaat
     3601 ctcagtatct ctctctcttt ctaaaaaatt agataaaaat ttgtctattt aagatggtta
     3661 aagatgttct tacccaagga aaagtaacaa attatagaat ttcccaaaag atgttttgat
     3721 cctactagta gtatgcagtg aaaatcttta gaactaaata atttggacaa ggcttaattt
     3781 aggcatttcc ctcttgacct cctaatggag agggattgaa aggggaagag cccaccaaat
     3841 gctgagctca ctgaaatatc tctcccttat ggcaatccta gcagtattaa agaaaaaagg
     3901 aaactattta ttccaaatga gagtatgatg gacagatatt ttagtatctc agtaatgtcc
     3961 tagtgtggcg gtggttttca atgtttcttc atgttaaagg tataagcctt tcatttgttc
     4021 aatggatgat gtttcagatt tttttttttt taagagatcc ttcaaggaac acagttcaga
     4081 gagattttca tcgggtgcat tctctctgct tcgtgtgtga caagttatct tggctgctga
     4141 gaaagagtgc cctgccccac accggcagac ctttccttca cctcatcagt atgattcagt
     4201 ttctcttatc aattggactc tcccaggttc cacagaacag taatattttt tgaacaatag
     4261 gtacaataga aggtcttctg tcatttaacc tggtaaaggc agggctggag ggggaaaata
     4321 aatcattaag cctttgagta acggcagaat atatggctgt agatccattt ttaatggttc
     4381 atttccttta tggtcatata actgcacagc tgaagatgaa aggggaaaat aaatgaaaat
     4441 tttacttttc gatgccaatg atacattgca ctaaactgat ggaagaagtt atccaaagta
     4501 ctgtataaca tcttgtttat tatttaatgt tttctaaaat aaaaaatgtt agtggttttc
     4561 caaatggcct aataaaaaca attatttgta aataaaaaca ctgttagtaa ta
//
