LOCUS       NM_207330               5302 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens NIPA like domain containing 1 (NIPAL1), mRNA.
ACCESSION   NM_207330
VERSION     NM_207330.3
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  (bases 1 to 5302)
  AUTHORS   Zhang,Y., Grant,R.A., Shivakumar,M.K., Zaleski,M., Sofoluke,N.,
            Slotkin,J.R., Williams,M.S. and Lee,M.T.M.
  TITLE     Genome-wide Association Analysis Across 16,956 Patients Identifies
            a Novel Genetic Association Between BMP6, NIPAL1, CNGA1 and
            Spondylosis
  JOURNAL   Spine (Phila Pa 1976) 46 (11), E625-E631 (2021)
   PUBMED   33332786
  REMARK    GeneRIF: Genome-wide Association Analysis Across 16,956 Patients
            Identifies a Novel Genetic Association Between BMP6, NIPAL1, CNGA1
            and Spondylosis.
REFERENCE   2  (bases 1 to 5302)
  AUTHORS   Sasahira,T., Nishiguchi,Y., Kurihara-Shimomura,M., Nakashima,C.,
            Kuniyasu,H. and Kirita,T.
  TITLE     NIPA-like domain containing 1 is a novel tumor-promoting factor in
            oral squamous cell carcinoma
  JOURNAL   J Cancer Res Clin Oncol 144 (5), 875-882 (2018)
   PUBMED   29464350
  REMARK    GeneRIF: Findings suggest that NIPA like domain containing 1
            (NIPAL1) might be a novel factor promoting oral squamous cell
            carcinoma (OSCC) tumorigenesis, as well as a useful molecular
            marker of OSCC.
REFERENCE   3  (bases 1 to 5302)
  AUTHORS   Nakayama,A., Nakaoka,H., Yamamoto,K., Sakiyama,M., Shaukat,A.,
            Toyoda,Y., Okada,Y., Kamatani,Y., Nakamura,T., Takada,T., Inoue,K.,
            Yasujima,T., Yuasa,H., Shirahama,Y., Nakashima,H., Shimizu,S.,
            Higashino,T., Kawamura,Y., Ogata,H., Kawaguchi,M., Ohkawa,Y.,
            Danjoh,I., Tokumasu,A., Ooyama,K., Ito,T., Kondo,T., Wakai,K.,
            Stiburkova,B., Pavelka,K., Stamp,L.K., Dalbeth,N., Sakurai,Y.,
            Suzuki,H., Hosoyamada,M., Fujimori,S., Yokoo,T., Hosoya,T.,
            Inoue,I., Takahashi,A., Kubo,M., Ooyama,H., Shimizu,T., Ichida,K.,
            Shinomiya,N., Merriman,T.R. and Matsuo,H.
  CONSRTM   Eurogout Consortium; Eurogout Consortium
  TITLE     GWAS of clinically defined gout and subtypes identifies multiple
            susceptibility loci that include urate transporter genes
  JOURNAL   Ann Rheum Dis 76 (5), 869-877 (2017)
   PUBMED   27899376
  REMARK    GeneRIF: Together with previous reports, our findings support the
            hypothesis that there could be some relationship between gout and
            magnesium handling via magnesium transporters including NIPAL1.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB960388.1, BC067881.1, DA730492.1, DA830885.1, AK095299.1,
            AL832997.1, CR749484.1, AC096749.2 and AK023734.1.
            
            On Nov 23, 2018 this sequence version replaced NM_207330.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR749484.1, AK095299.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295461.10/ ENSP00000295461.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 CB960388.1         28-29
            3-1490              BC067881.1         1-1488
            1491-1491           DA730492.1         341-341
            1492-1666           BC067881.1         1490-1664
            1667-1667           DA830885.1         159-159
            1668-2196           BC067881.1         1666-2194
            2197-2957           AK095299.1         2156-2916
            2958-3072           AL832997.1         2315-2429
            3073-3902           CR749484.1         3072-3901
            3903-3903           AC096749.2         57766-57766
            3904-4160           CR749484.1         3903-4159
            4161-4470           AK023734.1         1813-2122
            4471-5302           CR749484.1         4471-5302
FEATURES             Location/Qualifiers
     source          1..5302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12"
     gene            1..5302
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
                     /note="NIPA like domain containing 1"
                     /db_xref="GeneID:152519"
                     /db_xref="HGNC:HGNC:27194"
                     /db_xref="MIM:620340"
     exon            1..114
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1301
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
                     /note="NIPA-like protein 1; non-imprinted in
                     Prader-Willi/Angelman syndrome region protein 3"
                     /codon_start=1
                     /product="magnesium transporter NIPA3"
                     /protein_id="NP_997213.1"
                     /db_xref="CCDS:CCDS3479.1"
                     /db_xref="GeneID:152519"
                     /db_xref="HGNC:HGNC:27194"
                     /db_xref="MIM:620340"
                     /translation="MGAQVRLPPGEPCREGYVLSLVCPNSSQAWCEITNVSQLLASPV
                     LYTDLNYSINNLSISANVENKYSLYVGLVLAVSSSIFIGSSFILKKKGLLQLASKGFT
                     RAGQGGHSYLKEWLWWVGLLSMGAGEAANFAAYAFAPATLVTPLGALSVLISAILSSY
                     FLNEHLNIHGKIGCILSILGSTVMVIHAPQEEEVTSLHEMEMKLRDPGFISFAVIITV
                     ISLVLILIVAPKKGQTNILVYISICSLIGAFSVSSVKGLGIAIKELIEWKPVYKHPLV
                     FVLLAVLVLSVTTQINYLNKALDTFNTSLVTPIYYVFFTSMVVTCSAILFQEWYGMTA
                     GDIIGTLSGFFTIIIGIFLLHAFKNTDITWSELTSTAKKEAVSLNVNENNYVLLENLE
                     CSAPGYNDDVTLFSRTDD"
     exon            115..381
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
                     /inference="alignment:Splign:2.1.0"
     exon            382..438
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
                     /inference="alignment:Splign:2.1.0"
     exon            439..529
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
                     /inference="alignment:Splign:2.1.0"
     exon            530..690
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
                     /inference="alignment:Splign:2.1.0"
     exon            691..5302
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5185..5190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
                     /note="hexamer: AATAAA"
     polyA_site      5207
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
                     /note="major polyA site"
     regulatory      5281..5286
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
                     /note="hexamer: AATAAA"
     polyA_site      5302
                     /gene="NIPAL1"
                     /gene_synonym="NIPA3; NPAL1; SLC57A3"
ORIGIN      
        1 gcgggtgcgt gtggagaggc ccaggtgagg agcaagcgcc cgcgttccgg aagcccgctc
       61 ccggggccat gggggcacag gtgaggctgc cgcccggaga gccctgccga gaaggatatg
      121 tgctgtctct ggtctgtcca aactcctccc aggcttggtg tgagatcaca aatgtgtcac
      181 agctgctggc ttctcctgtg ctctacacgg acctgaatta cagcataaac aacttgagca
      241 tttcagcaaa tgtagaaaac aaatacagtc tttatgtggg cttggtactg gcagtaagct
      301 caagtatttt tattggctcc agcttcatac tgaaaaagaa gggcctcttg caactggcca
      361 gcaagggctt tactagagct ggacaaggtg gacattctta cctgaaggaa tggctctggt
      421 gggtaggatt gctgtcaatg ggagcaggag aggctgcaaa ttttgctgct tatgcttttg
      481 cacctgccac cttggtcacc cctctgggtg ctttgagtgt tctcataagt gcaatattat
      541 cttcctactt tttaaacgag cacttgaaca ttcatgggaa aataggctgc atattaagta
      601 tattggggtc aactgtgatg gttatccatg ccccacaaga agaggaagtc acatctttgc
      661 atgaaatgga aatgaaattg agagacccag ggtttatttc ctttgctgtg atcataactg
      721 tgatctcctt ggtgctgatt ttgattgtgg ctcccaagaa aggacagacc aatatattgg
      781 tttatatttc aatctgttcc ttgattggag cgttttcagt ttcttctgtg aaaggcctgg
      841 gaattgccat taaggagctg atagaatgga agccagttta caaacatccg ctggtctttg
      901 ttttgctggc tgtacttgtg ctttcagtaa ctacacagat taactatctc aacaaggcac
      961 tggacacctt taatacctct cttgtgacac ccatttatta tgtattcttc acatccatgg
     1021 tagtgacttg ctctgccatc ttattccaag agtggtatgg catgacagct ggagatatca
     1081 ttgggaccct gagtggattc ttcactatta tcattggcat cttccttcta catgctttta
     1141 aaaatactga cattacttgg agtgagctta catccactgc taagaaagaa gccgtctctc
     1201 tgaatgtcaa tgaaaacaat tatgttttac tagagaactt ggagtgttca gccccaggat
     1261 acaatgatga cgttaccttg tttagtagaa ctgatgactg aagtctctag aaacactgag
     1321 ttttaaccaa tatgagacac acgaagagga aaatgaatgc ttgcttcttg gaagaactgc
     1381 taggaaagtt agcatttttg cagttctaac taatttagat gtgaggccaa gtaaaaatgc
     1441 catttttttg gccattgaat ttgaaaatca aattgattat cctccagaat ctctacaaac
     1501 tttgaaatac tctctaagga tcaaagaagt caaagagcta tgtgtgtctc agaataatct
     1561 ccttcttctg gtcacagtat ctttgtctct gccaggtggc tcttcatttc tttggtagct
     1621 atttttagac ttacagtcat tcaccaatat acagttagca gtgttctgat agacacagta
     1681 tcagtcatat tctccgttga gtcataattt caaactcaac aagatttcag aaaggtataa
     1741 tcatgtaatt tctcatatta aaactgagaa gagaggccag gcatggtggt tcacacctgt
     1801 aatcctagca gtttgggagg ccaaggcgga cagatcactt gagctcagga gttcgagacc
     1861 accttgggcc acaaggcgag accctgtctc tacaaaaaat acaaaaatta gccaggcgtg
     1921 gtggcacatg cctgtagttc cagccacccg ggagcctgag gtgggaggat tgcttgagtc
     1981 tgcgaggttg gggctgccgt gagcccagat tgcgccattg tgctccagcc tgggtgacaa
     2041 agcaaggccc tgtctcaaaa aagaagaaga gaaagggcca ggggcttttg ctttaaaaaa
     2101 ctttttttaa aacagaagtg aaaccacggg tgctttgttc ttccttctgc acctccttct
     2161 taaactagat agctaattag ttattttaag aaaaaagaaa tttaaaaaaa agcctgcttt
     2221 atttgttagt gggctagaat acacaagaca tacccaccca tgaagagttt atgaattgta
     2281 acttattgac attatcatag gaatttacta ccagttaaag agggagaacg gaggaagaga
     2341 aaaatacttc agataaagga aaaagttttc ttctcacaaa aacacagaca cgtgattgtt
     2401 ttcacaggtt ccattaatta actcaggtct ggaagacata ggacaaaatg gagtttctga
     2461 agaagtccag gtgaattcag ctttggagtc acttatgttc attttttttc cttttctttt
     2521 actattatcc taaaggttat ttttcttgtt gatatagaga tttttgtaaa agattgctac
     2581 attatttcag gattatatcc tacatttcga ttgctctcaa atgttttatc cctaaagagt
     2641 gagttttcca cagactgttt ggaagcaact agaaaaatct ttgtgaaaaa tctgaacaaa
     2701 ttatcataat ggctctcttg aaattttgca ctttcaccct tattaaggaa attataatta
     2761 gttactaacc tttaaaaata gatatattct aataggatag aaagttaact tcctggcaaa
     2821 caaaatacta agatctcagg ggctactgca ggaaaatacc tttttcgcac attaaaatgt
     2881 ttataaaatt ttcccctctc atttcaaatg catggcagga ataacatttt tggtggtctt
     2941 taatgtgatg gacagattta ctgtcactta ttgattttat ggaaaataaa ttggctatct
     3001 tatttttata acaatcttat ttttctcaaa acaaaaatcc taaccaaaaa gttgtcatta
     3061 aaaaaaaaaa aattcaggta gactgaatgt ttttctgctc taaccttaaa tgttattagg
     3121 tttggttttt gtttctaagc tacttcaaga ctacctgagg taataatggt aaactttatt
     3181 attcagaatt cgattaaact aacttcagca tttccacagt tctattaaac aatgactgat
     3241 gttcacaatg acaacctacc tgagatggct gcaaggccct aatgttccat tatacattat
     3301 agtcttttca gcatagttta gtgttgagtg caattctaat gcattctacg tttttgaaaa
     3361 tcgataatcc atggaaggtc catgggttga tacctcaggt caaaaatgtg tttactctgt
     3421 tgattgctgt ttcactttac ttgtatatca gatatataag ctatgaacac aagtttgtag
     3481 taaaagtatc ttctgtctgg gcaatggctc acacctgtaa ttccaacact ttggggggct
     3541 caggtgggag gatttctagt ccccaggagt ttgagaccag cctgggcaat aaactagacc
     3601 ccatgtctct aaaaaatgta aaaaacatca agaggctgag tcaggaggat catttgagct
     3661 taggagttca aggctgcagt aagttatgat tgtgccactg cattccagcc tgggtgacaa
     3721 gagtgagacc ctgacccaaa aaagtatctt ctgataaagt ggcatttgaa aattgcagaa
     3781 attttaatat tttttctttt aatattaaga actttattga tctctctagg acaccttggt
     3841 gaggaaatta atggcacttt tcttgacatc caacctggga ctctggtgat tctgtgttct
     3901 ggcgaattta agtttcagac atttctttgt gtcacctttt acaaggtgtt tgcccttggt
     3961 acgttatgac caggtcaaag gttcccaaac acaaggctca ttgtgtaccc tggacaggaa
     4021 attgaactga tgttgacatg tatgcatgcc caggaggaag actgggaaag atttaatgag
     4081 ttgaagtatg ctgagaaaca atgaaatatt tgaaaactgt ctacataaaa gttactgatg
     4141 cacatgcatt aaaaaaaaaa atgttgttgc aaatctaaca ctaaaaaatt tttgactggg
     4201 tgcagtggct cacacctgta atcccagcac tttgggaggc tgaggcgggt agatcacaag
     4261 gacaggagtt caagaccagc ctggccaaca tggtgaaacc ccgtctctac taaaaataca
     4321 aaaattagcc aggcatggtt gcgggtgcct ataatcccaa ctaccccgga ggctgaggca
     4381 gggaattgct tgaagcaagg aggggcaggt tgcagtgagc caagattgtg ccaccacact
     4441 ccagcctggg taacagcaag actccgtctc aaaaaaaaaa aaaattccca aataggaaga
     4501 tattttctaa ggaagaataa aatgctggac ccctatattc agactattag tcttaactgg
     4561 tagtttatgt atatatttta atactttgtc atcatgtaca tatcttaaga tttattatgt
     4621 gaatatctgc atgtgtgtta ttaaggatta caaagttgtg ctcacacagg acaaatggaa
     4681 agattttcct acttctgtaa agataagttt cattatactt ttgtcttaca attttattct
     4741 taggtcaatg gttatttatt ataagttcag attgcacaat tttcataaga ccctttggat
     4801 ttagcacatg aaattaacac atattttaaa gtattaaata catggaaagc atctggcatt
     4861 atgcctgata ataggcactt agtaaaatgt acttttcttt gaatcaacat ttgaattctt
     4921 acagtcttgt cactagagac ttaaaaggac cattgagtgc ctatttttat acattcatct
     4981 tttctcaatt tgtcacatta tctcatttta aataatgcaa gtgaaagtga attcatcata
     5041 ctatctcaac accaatacaa aattattcca ataaaaatat ttttcttaat aaaaccagaa
     5101 aaactgaact aaatgctatt tagccccgcc aacaaagctt tgtggaaaaa tatatgaata
     5161 tatgaaatgt tctcaaatat tttgaataaa ctgttcatga agccttatat tttgcaagtg
     5221 tttttactgt tgattttaga aagtttataa atcttaaatg tttgtatatt tttcatttgc
     5281 aataaaatgt tatttaatta tg
//
