LOCUS       NM_020448               5372 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens NIPA like domain containing 3 (NIPAL3), transcript
            variant 1, mRNA.
ACCESSION   NM_020448
VERSION     NM_020448.5
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 5372)
  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   2  (bases 1 to 5372)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5372)
  AUTHORS   Grzmil,P., Konietzko,J., Boehm,D., Holter,S.M.,
            Aguilar-Pimentel,A., Javaheri,A., Kalaydjiev,S., Adler,T.,
            Bolle,I., Adham,I., Dixkens,C., Wolf,S., Fuchs,H.,
            Gailus-Durner,V., Wurst,W., Ollert,M., Busch,D.H., Schulz,H., de
            Angelis,M.H. and Burfeind,P.
  TITLE     Targeted disruption of the mouse Npal3 gene leads to deficits in
            behavior, increased IgE levels, and impaired lung function
  JOURNAL   Cytogenet Genome Res 125 (3), 186-200 (2009)
   PUBMED   19738379
  REMARK    GeneRIF: Study demonstrates that both human NPAL3 and mouse NPAL3
            are ubiquitously expressed and encode highly conserved proteins
            Erratum:[Cytogenet Genome Res. 2009;125(4):285. Hoelter, S M
            [corrected to Holter, S M]; Aguilar, A [corrected to
            Aguilar-Pimentel, A]; Gailus-Durne, V [corrected to Gailus-Durner,
            V]; Busch, D [corrected to Busch, D H]]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA223169.1, BC063583.1 and AL031431.8.
            
            On Nov 23, 2018 this sequence version replaced NM_020448.4.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.184807.1,
                                           SRR1803617.159584.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374399.9/ ENSP00000363520.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                DA223169.1         53-78
            27-1972             BC063583.1         4-1949
            1973-5372           AL031431.8         123704-127103
FEATURES             Location/Qualifiers
     source          1..5372
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..5372
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /note="NIPA like domain containing 3"
                     /db_xref="GeneID:57185"
                     /db_xref="HGNC:HGNC:25233"
                     /db_xref="MIM:620034"
     exon            1..103
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     exon            104..453
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     CDS             361..1581
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /note="isoform a is encoded by transcript variant 1;
                     NIPA-like protein 3"
                     /codon_start=1
                     /product="NIPA-like protein 3 isoform a"
                     /protein_id="NP_065181.1"
                     /db_xref="CCDS:CCDS30631.1"
                     /db_xref="GeneID:57185"
                     /db_xref="HGNC:HGNC:25233"
                     /db_xref="MIM:620034"
                     /translation="MDGSHSAALKLQQLPPTSSSSAVSEASFSYKENLIGALLAIFGH
                     LVVSIALNLQKYCHIRLAGSKDPRAYFKTKTWWLGLFLMLLGELGVFASYAFAPLSLI
                     VPLSAVSVIASAIIGIIFIKEKWKPKDFLRRYVLSFVGCGLAVVGTYLLVTFAPNSHE
                     KMTGENVTRHLVSWPFLLYMLVEIILFCLLLYFYKEKNANNIVVILLLVALLGSMTVV
                     TVKAVAGMLVLSIQGNLQLDYPIFYVMFVCMVATAVYQAAFLSQASQMYDSSLIASVG
                     YILSTTIAITAGAIFYLDFIGEDVLHICMFALGCLIAFLGVFLITRNRKKPIPFEPYI
                     SMDAMPGMQNMHDKGMTVQPELKASFSYGALENNDNISEIYAPATLPVMQEEHGSRSA
                     SGVPYRVLEHTKKE"
     exon            454..522
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     exon            523..694
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     exon            695..754
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     exon            755..900
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     exon            901..997
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1133
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1222
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1286
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     exon            1287..1381
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     exon            1382..5372
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5353..5358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /note="hexamer: ATTAAA"
     polyA_site      5372
                     /gene="NIPAL3"
                     /gene_synonym="DJ462O23.2; NPAL3; SLC57A5"
                     /note="major polyA site"
ORIGIN      
        1 gaattgggaa gggatgaagg aggctgtgcc tccgggttgc acgaagagtc cgagtcattt
       61 ctcagaaggt tttgataggt gggccttaga ggagacgccg ccgagcaccg caagaactgg
      121 aaaacacacc cctctctgtc tgcctgggag agccacggaa attggcactt ctctgagtga
      181 agctgaggag aaggctgtaa atctgccaaa acagccttga agtattcttt tgtcatgagg
      241 aagtgacggc tgctggaggg aggtgaacac cacaaggaga gatggcatct ggcctgggcc
      301 ccgcctagca gcagctccac ctcctaggcc aggccctgtg ggatgcgcca ctagaccacc
      361 atggacggat cccacagcgc agccctgaag ctgcagcagc tgcctcccac aagtagctcc
      421 agcgccgtaa gcgaggcctc cttctcctac aaggaaaacc tgattggcgc cctcttggcg
      481 atcttcgggc acctcgtggt cagcattgca cttaacctcc agaagtactg ccacatccgc
      541 ctggcaggct ccaaggatcc ccgggcctat ttcaagacca agacatggtg gctgggcctg
      601 ttcctgatgc ttctgggcga gctgggtgtg ttcgcctcct acgccttcgc gccgctgtca
      661 ctcatcgtgc ccctcagcgc agtttctgtg atagctagtg ccatcatagg aatcatattc
      721 atcaaggaaa agtggaaacc gaaagacttt ctgaggcgct acgtcttgtc ctttgttggc
      781 tgcggtttgg ctgtcgtggg tacctacctg ctggtgacat tcgcacccaa cagtcacgag
      841 aagatgacag gcgagaatgt caccaggcac ctcgtgagct ggcctttcct tttgtacatg
      901 ctggtggaga tcattctgtt ctgcttgctg ctctacttct acaaggagaa gaacgccaac
      961 aacattgtcg tgattcttct cttggtggcg ttacttggct ccatgacagt ggtgacagtc
     1021 aaggccgtgg ctgggatgct tgtcttgtcc attcaaggga acctgcagct tgactacccc
     1081 atcttctacg tgatgttcgt gtgcatggtg gcaaccgccg tctatcaggc tgcgtttttg
     1141 agtcaagcct cacagatgta cgactcctct ttgattgcca gtgtgggcta cattctgtcc
     1201 acaaccattg ctatcacagc aggtgcaata ttttacctgg acttcatcgg ggaggacgtg
     1261 ctgcacatct gcatgtttgc actggggtgc ctcattgcat tcttgggcgt cttcttaatc
     1321 acgcgtaaca ggaagaagcc cattccattt gagccctata tttccatgga tgccatgcca
     1381 ggtatgcaga acatgcacga taaagggatg actgtccagc ctgaacttaa agcttctttt
     1441 tcctatgggg ctctggaaaa caatgacaac atttctgaga tctacgctcc tgccaccctg
     1501 ccagtcatgc aagaagagca cggctccaga agtgcctctg gggtccccta ccgagtccta
     1561 gagcacacca agaaggaatg agactcgcct ccctctattt ataactgtcc cctccaggct
     1621 gacagtggtt caaccctgaa tcctaaaact tgcctttcaa gtctcatttt gtttctaact
     1681 gagaactcta tggatgatga tctcaaaaag cctttgtctc tgggaaagga tgcgttatct
     1741 tggtcttgga aatttcaaat gatgagggtt gggggatgga agcattattc caggtggacg
     1801 ggatagaatc cagcctctgc ctggattagc ccagggggat ttggaaagcc tttctaccat
     1861 ccttgaggat ggtaactgag cttcctctga cagtgaccaa aggatgctgt atccttcaga
     1921 gctaaggcaa gacagagagt ctgctgttaa ttctcaaatc cagcgaaagg ctggacatct
     1981 ctaaatctcg tcttcctcca cctcatgtgc atgcctgatc tcaccctgac actcctgatg
     2041 ccgcatctgt gatagcactc gtgttgcctt cacatggcag gctgggccaa ccctgggtgg
     2101 aaggttctga catttgtgtt ttcagaaatg tacatctgcc ttccagtcat ctgtgccctt
     2161 ctagggaaga tgtgcttgat atgttcaaat tggatctact ctgaaaacga aacttggttt
     2221 tggtcctgtg aggactactt gtttgtccac ctcctccacc aaaggaatta ggaagttaag
     2281 agaaggggaa gaatatggag gataggagag ggtgatgatg ctttagccca ttaaggaaga
     2341 aaagttcccc ttactcttac aaaaggtgat tgcaccactt aaaaaaggat aggtagaaaa
     2401 tctggccatt ttatgtgtta tttttttcct gcataccagt gccccctgga aagatgggga
     2461 tgctcatttc agagacagcc tcttcacctg tcctccgtct ctccattaca gagccacaag
     2521 ccaagcttga gttactggtt aatttccttg aagtcaatag agactctctg ggtcctcatc
     2581 cccatgcata tatgtctggg agaagcaagc attctccaaa acagggctgt tgctttcttc
     2641 ctggccgcat atgtgactgt cttcccctag actgatggta tacttttgag aggggcggat
     2701 aaaggtttgc aaactttaat gggcataagg atcccctaga agcatatgta aaatgcagat
     2761 tcctgcaccc caactgcaga cactgttaag tgggactgga gtggggccca cgggtctgca
     2821 ttcttaactg gtaccaccag tgattctgat gcgatgcttc aatcccgaga tttcacatct
     2881 ggaaagccta agaatttaca aagatgttct gctaaaaccc ccagggcccc atgcagtctt
     2941 gctagaaaat ttcctcccta gggttccttt ggaaggttaa atactcccca taggatctgt
     3001 ggcatttctc catccaatga atactactta gagctacact caccacttcc ctagacagcc
     3061 tttaataggc atgataacag tgttaataga ccagtgtgat agatcactta tctttatgga
     3121 ttgtgcttaa tactgattta gtatcttgac tccaaaaact gacatctgtt gtctgtgata
     3181 accacttctg tattgcgtct taaccacttc tgtattgtgt ggtcttaact gcctaaggcg
     3241 gcaatgggca gtgggcccct ttcccttagg atgggtatca attcaacaat atttataagg
     3301 catttactgt gtgctaagca tttggaagac ccaggctaca aaataagaca tagttcctgc
     3361 cctccaggcc agcagaggga ggcacaaata cccaggaatc tctgatgggt gtgaagtgcg
     3421 gtcgtgggcc acagaaaatg accgtcatgg agaccctgct aaaggtcgga ccctgagccc
     3481 aaaggggtat tcagaagtgg agatgatttt ggccccactc atagatgggt ggcaaatcta
     3541 agatttgtat aaagcatata aaatagggtg atcacccccg aggcagaggg gccagcattt
     3601 gcaaaggcac agagctaaga ggagctgggc aaagaaagga aagccaggga aggtggtggg
     3661 agatgagtct caaagctaag tagtggaagc tgggcacagt ggctcatgcc tgcaatccca
     3721 gcactttggg aggccaaggc tggaggatca cttgagccca ggagttttat atcagcctgg
     3781 gcaacatagc aagacctcat ctctgctaaa aattaaaaat aaataaatta gctgggtgtg
     3841 gtggtgcatg cctgtgatcc tagctactca ggaggctgag gtgggaggat cgctagagcc
     3901 cagagagcca aggctacagt gagccatgat catgctactg cactccagcc tgggtgacaa
     3961 tgagaccatg gctcaaaaaa aaaaaaaaaa aaaagataag cagtggaggc cgaatcatgg
     4021 agggtcttga atacctggct aaggagttta aagtgtatcc aagaggacgt gggagccact
     4081 gatggttcat gaggaagaga agggcaggac cagcactgat tgaaaaggag ggcttgttca
     4141 gtgtggagga agaatcagaa gggggaataa gttaccttct ccgagcctgc aagaacaaaa
     4201 aacaaaaagc agaaattaaa atcaggtttc actgctattt atatatttct cctttcccaa
     4261 atgatttttc taaagctggg agtggaggca ggagggagaa acagaaggtg agcagggagg
     4321 ctatttagat gtgtcaaacc cgggtgatca ttaataattt gggcatatat atgctcccaa
     4381 acttactctg cccccttcct tccctttttt tttttttttt ttggtatggg ccttttaggc
     4441 ttgggccagc cagctttctt gagatgagtg aataaaagcg tattgtaatt tcatgtctgc
     4501 ttcagatcat ggggacagtg ccacccagga actgctgctg aggcctggga agctcccttg
     4561 ccttcgggtt tggagcagtg gcatcatccc accaacctga gccatgaaag ggctgagcag
     4621 aaagttaaat ggtagtttcc tgactggaag ccacacgtag gtcacttgag tagtcaggaa
     4681 gcacagtggg tgtggagcca tcatctgtct tgggctggtt cctcccaatc tttgtccagt
     4741 ggtataaatg gactgtctgc tgatggccat acgcagcact ggctgttaag atggggaagg
     4801 ggtacatcag gattccactc atagccctgg ttcgttattg ttactcatgg ctctgacgtc
     4861 cccaagccct cttgaatgtt gcaagcaatg ttaaatatca cacctcggtc tccttttgag
     4921 cagcccaggt acctaaagca aggtcaccaa acttgggttt aaacttcagt tgccatcaca
     4981 gcagggttca ggttatgcag tttttgcagt gtggagttga acgctgggta aagaagggag
     5041 agctgactct ccattgcttt tctagtggaa accagccagt ttgacggcac ggtgcggata
     5101 caggactcca tcaggctagt gttggggaac cagcccggca gccttccatg tgaattccaa
     5161 agctgtttca acactggctg ataggcagac aaaaggttac ttgtgtgttt ctctgagaag
     5221 cggtgtaaat gaagtcacct tagaatatat tctgtgcgga tgcttatatt ttgttaactt
     5281 cacgacttat ggcatgtctt atttaaaaaa aaaaaagtac taggtgcaaa taacattatg
     5341 aagtggtatt taattaaaaa tccatgcagt ga
//
