LOCUS       NM_005380               2024 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens NBL1, DAN family BMP antagonist (NBL1), transcript
            variant 2, mRNA.
ACCESSION   NM_005380
VERSION     NM_005380.8
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 2024)
  AUTHORS   Kobayashi,H., Satake,E., Murata,Y., Otsuka,H., Tsunemi,A.,
            Azuma,M., Nakamura,Y., Saito,T. and Abe,M.
  TITLE     Neuroblastoma suppressor of tumorigenicity 1 is associated with the
            severity of interstitial fibrosis and kidney function decline in
            IgA nephropathy
  JOURNAL   J Nephrol 36 (8), 2245-2256 (2023)
   PUBMED   37436574
  REMARK    GeneRIF: Neuroblastoma suppressor of tumorigenicity 1 is associated
            with the severity of interstitial fibrosis and kidney function
            decline in IgA nephropathy.
REFERENCE   2  (bases 1 to 2024)
  AUTHORS   Kobayashi,H., Looker,H.C., Satake,E., D'Addio,F., Wilson,J.M.,
            Saulnier,P.J., Md Dom,Z.I., O'Neil,K., Ihara,K., Krolewski,B.,
            Badger,H.S., Petrazzuolo,A., Corradi,D., Galecki,A., Wilson,P.C.,
            Najafian,B., Mauer,M., Niewczas,M.A., Doria,A., Humphreys,B.D.,
            Duffin,K.L., Fiorina,P., Nelson,R.G. and Krolewski,A.S.
  TITLE     Neuroblastoma suppressor of tumorigenicity 1 is a circulating
            protein associated with progression to end-stage kidney disease in
            diabetes
  JOURNAL   Sci Transl Med 14 (657), eabj2109 (2022)
   PUBMED   35947673
  REMARK    GeneRIF: Neuroblastoma suppressor of tumorigenicity 1 is a
            circulating protein associated with progression to end-stage kidney
            disease in diabetes.
REFERENCE   3  (bases 1 to 2024)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2024)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2024)
  AUTHORS   Ahmed,A., Kandola,P., Ziada,G. and Parenteau,N.
  TITLE     Purification and partial amino acid sequence of proteins from human
            epidermal keratinocyte conditioned medium
  JOURNAL   J Protein Chem 20 (4), 273-278 (2001)
   PUBMED   11594460
REFERENCE   6  (bases 1 to 2024)
  AUTHORS   Ozaki,T., Enomoto,H., Nakamura,Y., Kondo,K., Seki,N., Ohira,M.,
            Nomura,N., Ohki,M., Nakagawara,A. and Sakiyama,S.
  TITLE     The genomic analysis of human DAN gene
  JOURNAL   DNA Cell Biol 16 (9), 1031-1039 (1997)
   PUBMED   9324305
REFERENCE   7  (bases 1 to 2024)
  AUTHORS   Ozaki,T., Ma,J., Takenaga,K. and Sakiyama,S.
  TITLE     Cloning of mouse DAN cDNA and its down-regulation in transformed
            cells
  JOURNAL   Jpn J Cancer Res 87 (1), 58-61 (1996)
   PUBMED   8609050
REFERENCE   8  (bases 1 to 2024)
  AUTHORS   White,P.S., Maris,J.M., Beltinger,C., Sulman,E., Marshall,H.N.,
            Fujimori,M., Kaufman,B.A., Biegel,J.A., Allen,C., Hilliard,C.,
            Valentine,M.B., Look,A.T., Enomoto,H., Sakiyama,S. and Brodeur,G.M.
  TITLE     A region of consistent deletion in neuroblastoma maps within human
            chromosome 1p36.2-36.3
  JOURNAL   Proc Natl Acad Sci U S A 92 (12), 5520-5524 (1995)
   PUBMED   7777541
REFERENCE   9  (bases 1 to 2024)
  AUTHORS   Enomoto,H., Ozaki,T., Takahashi,E., Nomura,N., Tabata,S.,
            Takahashi,H., Ohnuma,N., Tanabe,M., Iwai,J., Yoshida,H. et al.
  TITLE     Identification of human DAN gene, mapping to the putative
            neuroblastoma tumor suppressor locus
  JOURNAL   Oncogene 9 (10), 2785-2791 (1994)
   PUBMED   8084583
REFERENCE   10 (bases 1 to 2024)
  AUTHORS   Ozaki,T. and Sakiyama,S.
  TITLE     Molecular cloning and characterization of a cDNA showing negative
            regulation in v-src-transformed 3Y1 rat fibroblasts
  JOURNAL   Proc Natl Acad Sci U S A 90 (7), 2593-2597 (1993)
   PUBMED   8385338
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031727.43, DB482000.1,
            BC012037.1 and BM988954.1.
            
            On Jun 2, 2019 this sequence version replaced NM_005380.7.
            
            Summary: This gene product is the founding member of the
            evolutionarily conserved CAN (Cerberus and DAN) family of proteins,
            which contain a domain resembling the CTCK (C-terminal cystine
            knot-like) motif found in a number of signaling molecules. These
            proteins are secreted, and act as BMP (bone morphogenetic protein)
            antagonists by binding to BMPs and preventing them from interacting
            with their receptors. They may thus play an important role during
            growth and development. Alternatively spliced transcript variants
            have been identified for this gene. Read-through transcripts
            between this locus and the upstream mitochondrial inner membrane
            organizing system 1 gene (GeneID 440574) have been observed.
            [provided by RefSeq, May 2013].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The encoded isoform
            (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3,
            4, 6, 7, and 8 encode the same isoform (2).
            
            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 :: BC012037.1, SRR3476690.617339.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375136.8/ ENSP00000364278.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AL031727.43        72715-72716
            3-66                DB482000.1         1-64
            67-950              BC012037.1         1-884
            951-1995            AL031727.43        85782-86826
            1996-2024           BM988954.1         23-51               c
FEATURES             Location/Qualifiers
     source          1..2024
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..2024
                     /gene="NBL1"
                     /gene_synonym="D1S1733E; DAN; DAND1; NB; NO3"
                     /note="NBL1, DAN family BMP antagonist"
                     /db_xref="GeneID:4681"
                     /db_xref="HGNC:HGNC:7650"
                     /db_xref="MIM:600613"
     exon            1..136
                     /gene="NBL1"
                     /gene_synonym="D1S1733E; DAN; DAND1; NB; NO3"
                     /inference="alignment:Splign:2.1.0"
     exon            137..325
                     /gene="NBL1"
                     /gene_synonym="D1S1733E; DAN; DAND1; NB; NO3"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..701
                     /gene="NBL1"
                     /gene_synonym="D1S1733E; DAN; DAND1; NB; NO3"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; neuroblastoma candidate region, suppression of
                     tumorigenicity 1; differential screening-selected gene
                     aberrant in neuroblastoma; DAN domain family member 1;
                     neuroblastoma suppressor of tumorigenicity 1;
                     neuroblastoma 1, DAN family BMP antagonist"
                     /codon_start=1
                     /product="neuroblastoma suppressor of tumorigenicity 1
                     isoform 2 precursor"
                     /protein_id="NP_005371.2"
                     /db_xref="GeneID:4681"
                     /db_xref="HGNC:HGNC:7650"
                     /db_xref="MIM:600613"
                     /translation="MMLRVLVGAVLPAMLLAAPPPINKLALFPDKSAWCEAKNITQIV
                     GHSGCEAKSIQNRACLGQCFSYSVPNTFPQSTESLVHCDSCMPAQSMWEIVTLECPGH
                     EEVPRVDKLVEKILHCSCQACGKEPSHEGLSVYVQGEDGPGSQPGTHPHPHPHPHPGG
                     QTPEPEDPPGAPHTEEEGAED"
     exon            326..437
                     /gene="NBL1"
                     /gene_synonym="D1S1733E; DAN; DAND1; NB; NO3"
                     /inference="alignment:Splign:2.1.0"
     exon            438..2024
                     /gene="NBL1"
                     /gene_synonym="D1S1733E; DAN; DAND1; NB; NO3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2006..2011
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NBL1"
                     /gene_synonym="D1S1733E; DAN; DAND1; NB; NO3"
                     /note="hexamer: AATAAA"
     polyA_site      2024
                     /gene="NBL1"
                     /gene_synonym="D1S1733E; DAN; DAND1; NB; NO3"
                     /note="major polyA site"
ORIGIN      
        1 gcagacagcg cgcagcgcag cccagccgag cgtcgcgggg ccgccccccg ccctgccggc
       61 cgcctcgccg agcctcctgg ggcgcccggg cccgcgaccc ccgcacccag ctccgcagga
      121 ccggcgggcg cgcgcgggct ctggaggcca cgggcatgat gcttcgggtc ctggtggggg
      181 ctgtcctccc tgccatgcta ctggctgccc caccacccat caacaagctg gcactgttcc
      241 cagataagag tgcctggtgc gaagccaaga acatcaccca gatcgtgggc cacagcggct
      301 gtgaggccaa gtccatccag aacagggcgt gcctaggaca gtgcttcagc tacagcgtcc
      361 ccaacacctt cccacagtcc acagagtccc tggttcactg tgactcctgc atgccagccc
      421 agtccatgtg ggagattgtg acgctggagt gcccgggcca cgaggaggtg cccagggtgg
      481 acaagctggt ggagaagatc ctgcactgta gctgccaggc ctgcggcaag gagcctagtc
      541 acgaggggct gagcgtctat gtgcagggcg aggacgggcc gggatcccag cccggcaccc
      601 accctcaccc ccatccccac ccccatcctg gcgggcagac ccctgagccc gaggaccccc
      661 ctggggcccc ccacacagag gaagaggggg ctgaggactg aggccccccc aactcttcct
      721 cccctctcat ccccctgtgg aatgttgggt ctcactctct ggggaagtca ggggagaagc
      781 tgaagccccc ctttggcact ggatggactt ggcttcagac tcggacttga atgctgcccg
      841 gttgccatgg agatctgaag gggcggggtt agagccaagc tgcacaattt aatatattca
      901 agagtggggg gaggaagcag aggtcttcag ggctcttttt ttgggggggg tggtctcttc
      961 ctgtctggct tctagagatg tgcctgtggg agggggagga agttggctga gccattgagt
     1021 gctgggggag gccatccaag atggcatgaa tcgggctaag gtccctgggg gtgcagatgg
     1081 tactgctgag gtcccgggct tagtgtgagc atcttgccag cctcaggctt gagggagggc
     1141 tgggctagaa agaccactgg cagaaacagg aggctccggc ccacaggttt ccccaaggcc
     1201 tctcacccca cttcccatct ccagggaagc gtcgccccag tggcactgaa gtggccctcc
     1261 ctcagcggag gggtttggga gtcaggcctg ggcaggaccc tgctgactcg tggcgcggga
     1321 gctgggagcc aggctctccg ggcctttctc tggcttcctt ggcttgcctg gtgggggaag
     1381 gggaggaggg gaagaaggaa agggaagagt cttccaaggc cagaaggagg gggacaaccc
     1441 cccaagacca tccctgaaga cgagcatccc cctcctctcc ctgttagaaa tgttagtgcc
     1501 ccgcactgtg ccccaagttc taggcccccc agaaagctgc cagagccggc cgccttctcc
     1561 cctctcccag ggatgctctt tgtaaatatc ggatgggtgt gggagtgagg ggttacctcc
     1621 ctcgccccaa ggttccagag gccctaggcg ggatgggctc gctgaacctc gaggaactcc
     1681 aggacgagga ggacatggga cttgcgtgga cagtcagggt tcacttgggc tctctctagc
     1741 tccccaattc tgcctgcctc ctccctccca gctgcacttt aaccctagaa ggtggggacc
     1801 tggggggagg gacagggcag gcgggcccat gaagaaagcc cctcgttgcc cagcactgtc
     1861 tgcgtctgct cttctgtgcc cagggtggct gccagcccac tgcctcctgc ctggggtggc
     1921 ctggccctcc tggctgttgc gacgcgggct tctggagctt gtcaccattg gacagtctcc
     1981 ctgatggacc ctcagtcttc tcatgaataa attccttcaa cgcc
//
