LOCUS       NP_001028219             565 aa            linear   PRI 08-JUN-2024
DEFINITION  nephronectin isoform B precursor [Homo sapiens].
ACCESSION   NP_001028219
VERSION     NP_001028219.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 565)
  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  (residues 1 to 565)
  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  (residues 1 to 565)
  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  (residues 1 to 565)
  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  (residues 1 to 565)
  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  (residues 1 to 565)
  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  (residues 1 to 565)
  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  (residues 1 to 565)
  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  (residues 1 to 565)
  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 (residues 1 to 565)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..565
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     Protein         1..565
                     /product="nephronectin isoform B precursor"
                     /note="preosteoblast EGF-like repeat protein with MAM
                     domain"
                     /calculated_mol_wt=59887
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=2038
     mat_peptide     20..565
                     /product="Nephronectin. /id=PRO_0000295684"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UXI9.3)"
                     /calculated_mol_wt=59887
     Region          93..127
                     /region_name="FXa_inhibition"
                     /note="Coagulation Factor Xa inhibitory site; pfam14670"
                     /db_xref="CDD:464251"
     Region          150..172
                     /region_name="cEGF"
                     /note="Complement Clr-like EGF-like; pfam12662"
                     /db_xref="CDD:463661"
     Region          169..197
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF domain; pfam07645"
                     /db_xref="CDD:429571"
     Region          218..253
                     /region_name="EGF_3"
                     /note="EGF domain; pfam12947"
                     /db_xref="CDD:463759"
     Region          301..389
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UXI9.3)"
     Region          382..384
                     /region_name="Integrin interaction"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6UXI9.3)"
     Region          422..561
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cd06263"
                     /db_xref="CDD:99706"
     CDS             1..565
                     /gene="NPNT"
                     /gene_synonym="EGFL6L; POEM"
                     /coded_by="NM_001033047.3:183..1880"
                     /note="isoform B precursor is encoded by transcript
                     variant 2"
                     /db_xref="CCDS:CCDS34046.1"
                     /db_xref="GeneID:255743"
                     /db_xref="HGNC:HGNC:27405"
                     /db_xref="MIM:610306"
ORIGIN      
        1 mdfllalvlv sslylqaaae fdgrwprqiv ssiglcrygg ridccwgwar qswgqcqpvc
       61 qprckhgeci gpnkckchpg yagktcnqdl necglkprpc khrcmntygs ykcyclngym
      121 lmpdgscssa ltcsmancqy gcdvvkgqir cqcpspglql apdgrtcvdv decatgrasc
      181 prfrqcvntf gsyickchkg fdlmyiggky qchdidecsl gqyqcssfar cynirgsykc
      241 kckegyqgdg ltcvyipkvm iepsgpihvp kgngtilkgd tgnnnwipdv gstwwppktp
      301 yippiitnrp tskpttrptp kptpiptppp ppplptelrt plppttperp ttglttiapa
      361 astppggitv dnrvqtdpqk prgdvfiprq psndlfeife iergvsadde akddpgvlvh
      421 scnfdhglcg wirekdndlh wepirdpagg qyltvsaaka pggkaarlvl plgrlmhsgd
      481 lclsfrhkvt glhsgtlqvf vrkhgahgaa lwgrngghgw rqtqitlrga diksvvfkge
      541 krrghtgeig lddvslkkgh cseer
//
