LOCUS       NM_015412               4820 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens nucleolus and neural progenitor protein (NEPRO),
            transcript variant 1, mRNA.
ACCESSION   NM_015412
VERSION     NM_015412.4
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 4820)
  AUTHORS   Narayanan,D.L., Shukla,A., Kausthubham,N., Bhavani,G.S., Shah,H.,
            Mortier,G. and Girisha,K.M.
  TITLE     An emerging ribosomopathy affecting the skeleton due to biallelic
            variations in NEPRO
  JOURNAL   Am J Med Genet A 179 (9), 1709-1717 (2019)
   PUBMED   31250547
  REMARK    GeneRIF: Our report delineates the clinical and radiological
            characteristics of an emerging ribosomopathy caused by biallelic
            variants in NEPRO
REFERENCE   2  (bases 1 to 4820)
  AUTHORS   Muroyama,Y. and Saito,T.
  TITLE     Identification of Nepro, a gene required for the maintenance of
            neocortex neural progenitor cells downstream of Notch
  JOURNAL   Development 136 (23), 3889-3893 (2009)
   PUBMED   19906856
REFERENCE   3  (bases 1 to 4820)
  AUTHORS   Nousiainen,M., Sillje,H.H., Sauer,G., Nigg,E.A. and Korner,R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM152568.1, AL117573.1, BC056663.1 and AC074044.8.
            
            On Nov 23, 2018 this sequence version replaced NM_015412.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.208711.1,
                                           SRR1660809.202349.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314400.10/ ENSP00000320251.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                BM152568.1         39-59
            22-1491             AL117573.1         1-1470
            1492-2347           BC056663.1         1329-2184
            2348-4820           AC074044.8         175448-177920       c
FEATURES             Location/Qualifiers
     source          1..4820
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.2"
     gene            1..4820
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /note="nucleolus and neural progenitor protein"
                     /db_xref="GeneID:25871"
                     /db_xref="HGNC:HGNC:24496"
                     /db_xref="MIM:617089"
     exon            1..130
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..1728
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /note="isoform a is encoded by transcript variant 1;
                     protein nepro homolog"
                     /codon_start=1
                     /product="nucleolus and neural progenitor protein isoform
                     a"
                     /protein_id="NP_056227.2"
                     /db_xref="CCDS:CCDS33824.1"
                     /db_xref="GeneID:25871"
                     /db_xref="HGNC:HGNC:24496"
                     /db_xref="MIM:617089"
                     /translation="MMAAVPPGLEPWNRVRIPKAGNRSAVTVQNPGAALDLCIAAVIK
                     ECHLVILSLKSQTLDAETDVLCAVLYSNHNRMGRHKPHLALKQVEQCLKRLKNMNLEG
                     SIQDLFELFSSNENQPLTTKVCVVPSQPVVELVLMKVLGACKLLLRLLDCCCKTFLLT
                     VKHLGLQEFIILNLVMVGLVSRLWVLYKGVLKRLILLYEPLFGLLQEVARIQPMPYFK
                     DFTFPSDITEFLGQPYFEAFKKKMPIAFAAKGINKLLNKLFLINEQSPRASEETLLGI
                     SKKAKQMKINVQNNVDLGQPVKNKRVFKEESSEFDVRAFCNQLKHKATQETSFDFKCS
                     QSRLKTTKYSSQKVIGTPHAKSFVQRFREAESFTQLSEEIQMAVVWCRSKKLKAQAIF
                     LGNKLLKSNRLKHLEAQGTSLPKKLECIKTSICNHLLRGSGIKTSKHHLRQRRSQNKF
                     LRRQRKPQRKLQSTLLREIQQFSQGTRKSATDTSAKWRLSHCTVHRTDLYPNSKQLLN
                     SGVSMPVIQTKEKMIHENLRGIHENETDSWTVMQINKNSTSGTIKETDDIDDIFALMG
                     V"
     exon            131..285
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /inference="alignment:Splign:2.1.0"
     exon            286..365
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /inference="alignment:Splign:2.1.0"
     exon            366..497
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /inference="alignment:Splign:2.1.0"
     exon            498..575
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /inference="alignment:Splign:2.1.0"
     exon            576..937
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /inference="alignment:Splign:2.1.0"
     exon            938..999
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1259
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..4820
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2320..2325
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /note="hexamer: ATTAAA"
     polyA_site      2347
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /note="major polyA site"
     regulatory      2389..2394
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /note="hexamer: AATAAA"
     polyA_site      2413
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
     regulatory      4798..4803
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
                     /note="hexamer: ATTAAA"
     polyA_site      4820
                     /gene="NEPRO"
                     /gene_synonym="ANXD3; C3orf17; NET17"
ORIGIN      
        1 ctttcgtaag tccccccgcc tcgcatgatg gctgcggtgc cgccgggcct ggagccgtgg
       61 aaccgtgtga gaatccctaa ggcggggaac cgcagcgcag tgacagtgca gaaccccggc
      121 gcggcccttg acctttgcat tgcagctgta attaaagaat gccatctcgt catactgtcg
      181 ctgaagagcc aaaccttaga tgcagaaaca gatgtgttat gtgcagtcct ttacagcaat
      241 cacaacagaa tgggccgcca caaaccccat ttggccctca aacaggttga gcaatgttta
      301 aagcgtttga aaaacatgaa tttggagggc tcaattcaag acctgtttga gttgttttct
      361 tccaatgaaa atcagccctt aactaccaaa gtatgtgttg tccccagtca gccagtggtg
      421 gagttggtgt tgatgaaggt tttgggagcc tgcaagttgt tgctccgctt gttggactgc
      481 tgctgcaaaa cttttctttt gactgtgaaa catctaggtt tgcaagagtt cattatttta
      541 aaccttgtga tggttgggct ggtgagcagg ttatgggttc tctataaagg tgtcttaaaa
      601 aggttgattt tgttatatga gcctttgttt ggattgcttc aagaggtcgc taggattcaa
      661 ccaatgcctt acttcaaaga ttttaccttt ccttctgata tcactgaatt tttaggacag
      721 ccatattttg aagcctttaa gaaaaaaatg cctatagctt ttgcagctaa aggaataaat
      781 aaattgctaa ataaactgtt tttaataaat gagcagtcac caagagccag tgaagaaacc
      841 ttgcttggaa tttcaaaaaa agctaaacaa atgaagatca atgtacagaa taatgtggat
      901 cttggacagc cagtaaagaa taagagagtc ttcaaagaag agtcatcaga atttgatgtg
      961 agggctttct gcaaccagct gaaacacaaa gctactcagg agaccagttt tgattttaaa
     1021 tgttctcaat ccagactaaa gacaaccaag tattcttctc agaaagtgat aggaactcct
     1081 catgccaaaa gttttgtgca aagattccga gaggctgagt ccttcacaca actttctgaa
     1141 gaaatccaga tggcagttgt atggtgcagg agcaaaaaac tcaaggctca ggccattttt
     1201 ctgggtaaca aacttcttaa aagcaaccgg cttaaacatc tggaagctca aggtactagt
     1261 ttgccaaaga aactagagtg cataaaaacg tctatttgca accaccttct tcgtggctca
     1321 ggtatcaaaa cttcaaagca tcatctgaga cagagaagat cacagaataa atttttacgg
     1381 agacaaagga aaccacagag aaagttgcag tcgactcttt taagggaaat tcagcagttc
     1441 tctcaaggga ctcggaagag tgctacagat accagtgcta agtggagact ctcacactgt
     1501 actgtgcata gaactgatct ctaccctaac agtaagcagc tcttgaatag tggagtttca
     1561 atgcctgtca tacaaactaa ggagaaaatg attcatgaaa atcttagagg catccatgaa
     1621 aatgaaactg attcgtggac ggtgatgcaa ataaataaaa acagtacatc aggaaccatt
     1681 aaggagacag atgacattga tgatattttt gctttaatgg gagtttagat gttcgttcat
     1741 atgtgagact tttaagtgat taacaaggct agttcagtgt tctaagtaga actgctaaga
     1801 tctggaagta ccacctggac tcacagagga gctgctttag tgcagcattg cacaggagtt
     1861 catttcagtt cagtctacat ttaaagtagc attgtgtcat ttcatcaaca agtatttctt
     1921 ttttggcttc aactacatgt caggtgttaa tatgaaaaat ctgccacagc ctacccttga
     1981 gaagcagatg taattccttg agtgaggcta gtaagtctct gaaaaactga ataattttat
     2041 gacttactag gcaatttaat aatcgtttgc aaaaaccatt gtgtcttgag gtaaatgagg
     2101 agcgggggtg ggagatagca aggaaacacc tgaaaggtca atttggtctt attggctcca
     2161 ttatacatag gtccgcctct gaatactaaa gtttgtagct cctgacattt atgttttctt
     2221 gtttatatgt tggaattgat caacaaggtt tgccactgct tgtattacca gggactggtt
     2281 acaaccatta tttctcttca tttgcttggc ttatctcata ttaaagtgag tttggagttc
     2341 tccaaaacgt tttaatttta tttatttggg taccagtgat tgattccaaa taaacctttt
     2401 tacaaaaagg caataaggtg gtttatggtt acatatgaaa tataatagga taacaggtag
     2461 atgagaaagt aaaatgaaaa aatgaggtta ggagatacaa agtagaccca ggaatgaggc
     2521 tagaacattt ataatttggt gttgatgctg tcatctgata ggggatgttg ctcgtactgt
     2581 tgctctgagg ggagtacatc ttgagtattt tcaaataatg atgtgaagtt tgaggtaggt
     2641 atctttccaa tgttctaact ttactagaat taggttatta agcttctcta gtgcccttaa
     2701 cttttgttac atagagattt aaagaaaaag aaagtagtac cttagtatgt accgcatcct
     2761 tcttttcctc agccacccta tcataacaga agttatttcc cttccattct ttatttggct
     2821 ttgttctttc cctgtctgcc ttctccattt tctcagttat ctctaccagt ggttctcaaa
     2881 ctttagactt tttgagaatc acctggtggg ttgctaaaag atgcagatta gccctttccc
     2941 agagactgat aaacaggggc cagaaacctg catttttaac atggagccca agtgattttg
     3001 atccaggtgg cccccaaatc cagttatata aacactactt tagcttctct cctgaagcct
     3061 taagtaaact ggtttaattc ttaatctgta gtcagttttc atattccttt tggctttcta
     3121 ccaagtggta gtatccattt agtgccttaa aatacagaca ataccaagga gatttcattc
     3181 tagacaagtc tagaaatggc cattaacttc taagtgtcct tgtgttcaat gaatatcctt
     3241 tacctattgg gaaatagaag gtaaattagt aagagaactg gtgtatagct ttgtggacca
     3301 tagggcttat ttgctgagag ttgtctatat tcatgcaccc agtcccctaa gtagcctctt
     3361 ttaatacttc atttagctga ttcagaaaaa aactccctgg gaattaggag atttaaggtt
     3421 cagtcttgct tctcctactt gtggcttcac tgagctagtc agtttcctca ggcttaggtt
     3481 tctggatttg aagtggaatt ttttcaagaa tgaaactttt atagctgaaa taaactttgg
     3541 agcttatctt tcattggaaa aaccagggtg gttcagtgag ttaaggacaa tatagcatgg
     3601 actgggctgc cagtctagca tttgtttcca aattcattca tgttcttttg gagtatcttc
     3661 atctcctctc attttcccat cttctgccct ttactattct gggaaaatgg caaaaaagct
     3721 tcacatgtgt ccacaaaatg acaatttgta tgtttataag gaattcagta ttctgtatca
     3781 gttacttttt ccaaataaat ccaaatattt aacatttaaa aaaatgcaat ctaaagtata
     3841 ccaaactgta acttacctag taaatgagat tagaaactat tgtcagggtc atcgtagtga
     3901 attattatta ttattatttt ttgagacaga gtcttgtgct gttgcccagg ctggagcaca
     3961 gtggtatgat ctcagttcac tgcaccctcc acctcctggg ctcaagctat tctcccacct
     4021 cagccgcctg agtagctgac actataggca ccaccatgcc ctggctaatt ttttaaaaac
     4081 tttgtgtaga gatagggttt caccatgttg cttaggctgg tctcaaactc ctggactcaa
     4141 gggatccacc cactttggtc tcccaaagtg ctgggattac ccacatccta gtaccaactt
     4201 tatcacttct gatggcatta ggacacacag gccatttata agagcagtgt ttgagacctc
     4261 ctgtgtgtca cttccaatcc tcttggcctt catactaaag tcactgctgt ggcaaccagt
     4321 ttcaagcagg gctgaacctt gcctcttgct ctggggatgt ctcacttcct gcccctgggc
     4381 ttctcaccag ctacaggaac tgcctagcac ttgggtatgt acaacctgga agaggtgtgg
     4441 ggccacccca tcccctcctc aaagaaattc acaggcacag tatgaggcta aagtaacttc
     4501 catcttggat gctaatctac catgttgact tctgataacc agttcctgga atgccctcta
     4561 agatttctac ttttatctat taaaagaaca cacacacaca cacacactgt aaatcctggc
     4621 cttaagcaag ttataggcta agttgtaaac agcattcttg cctttccctg aggaggtgac
     4681 ttcagtgtct cacatgttcc ttcatgtacc cccttttctc tatggcatat aagccctggg
     4741 tcggggggta actgtgggga tcactgcctg agacatggct tctgtgcata agtccctatt
     4801 aaatgtttct ttctgacaaa
//
