LOCUS       NM_032038               2205 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens SPNS lysolipid transporter 1, lysophospholipid
            (SPNS1), transcript variant 1, mRNA.
ACCESSION   NM_032038
VERSION     NM_032038.3
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 2205)
  AUTHORS   He,M., Kuk,A.C.Y., Ding,M., Chin,C.F., Galam,D.L.A., Nah,J.M.,
            Tan,B.C., Yeo,H.L., Chua,G.L., Benke,P.I., Wenk,M.R., Ho,L.,
            Torta,F. and Silver,D.L.
  TITLE     Spns1 is a lysophospholipid transporter mediating lysosomal
            phospholipid salvage
  JOURNAL   Proc Natl Acad Sci U S A 119 (40), e2210353119 (2022)
   PUBMED   36161949
  REMARK    GeneRIF: Spns1 is a lysosomal proton-dependent
            lysophosphatidylcholine (LPC) and lysophosphatidylethanolamine
            (LPE) transporter mediating phospholipid salvage pathway
REFERENCE   2  (bases 1 to 2205)
  AUTHORS   Fang,Z., Cao,B., Liao,J.M., Deng,J., Plummer,K.D., Liao,P., Liu,T.,
            Zhang,W., Zhang,K., Li,L., Margolin,D., Zeng,S.X., Xiong,J. and
            Lu,H.
  TITLE     SPIN1 promotes tumorigenesis by blocking the uL18 (universal large
            ribosomal subunit protein 18)-MDM2-p53 pathway in human cancer
  JOURNAL   Elife 7, e31275 (2018)
   PUBMED   29547122
  REMARK    GeneRIF: Spindlin 1 (SPIN1) sequesters ribosomal protein uL18 in
            the nucleolus, preventing it from interacting with c-mdm2
            Proto-oncogene protein (MDM2), and alleviating uL18-mediated
            inhibition of MDM2 ubiquitin ligase activity toward p53 tumor
            suppressor protein (p53).
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2205)
  AUTHORS   Yanagisawa,H., Ishii,T., Endo,K., Kawakami,E., Nagao,K.,
            Miyashita,T., Akiyama,K., Watabe,K., Komatsu,M., Yamamoto,D. and
            Eto,Y.
  TITLE     L-leucine and SPNS1 coordinately ameliorate dysfunction of
            autophagy in mouse and human Niemann-Pick type C disease
  JOURNAL   Sci Rep 7 (1), 15944 (2017)
   PUBMED   29162837
  REMARK    GeneRIF: SPNS1-dependent L-leucine export across the lysosomal
            membrane is a key step for triggering autophagy, and that this
            mechanism is impaired in Niemann-Pick type C disease-1.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2205)
  AUTHORS   Rietveld,C.A., Esko,T., Davies,G., Pers,T.H., Turley,P.,
            Benyamin,B., Chabris,C.F., Emilsson,V., Johnson,A.D., Lee,J.J., de
            Leeuw,C., Marioni,R.E., Medland,S.E., Miller,M.B., Rostapshova,O.,
            van der Lee,S.J., Vinkhuyzen,A.A., Amin,N., Conley,D.,
            Derringer,J., van Duijn,C.M., Fehrmann,R., Franke,L., Glaeser,E.L.,
            Hansell,N.K., Hayward,C., Iacono,W.G., Ibrahim-Verbaas,C.,
            Jaddoe,V., Karjalainen,J., Laibson,D., Lichtenstein,P.,
            Liewald,D.C., Magnusson,P.K., Martin,N.G., McGue,M., McMahon,G.,
            Pedersen,N.L., Pinker,S., Porteous,D.J., Posthuma,D.,
            Rivadeneira,F., Smith,B.H., Starr,J.M., Tiemeier,H., Timpson,N.J.,
            Trzaskowski,M., Uitterlinden,A.G., Verhulst,F.C., Ward,M.E.,
            Wright,M.J., Davey Smith,G., Deary,I.J., Johannesson,M., Plomin,R.,
            Visscher,P.M., Benjamin,D.J., Cesarini,D. and Koellinger,P.D.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. doi:
            10.1073/pnas.1424631112.. PMID: 25572966]
REFERENCE   5  (bases 1 to 2205)
  AUTHORS   Vastermark,A., Jacobsson,J.A., Johansson,A., Fredriksson,R.,
            Gyllensten,U. and Schioth,H.B.
  TITLE     Polymorphisms in sh2b1 and spns1 loci are associated with
            triglyceride levels in a healthy population in northern Sweden
  JOURNAL   J Genet 91 (2), 237-240 (2012)
   PUBMED   22942098
  REMARK    GeneRIF: A single nucleotide polymorphism located within the spns1
            gene is associated with plasma triglyceride levels.
REFERENCE   6  (bases 1 to 2205)
  AUTHORS   Schroder,B., Wrocklage,C., Pan,C., Jager,R., Kosters,B.,
            Schafer,H., Elsasser,H.P., Mann,M. and Hasilik,A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   7  (bases 1 to 2205)
  AUTHORS   Yanagisawa,H., Miyashita,T., Nakano,Y. and Yamamoto,D.
  TITLE     HSpin1, a transmembrane protein interacting with Bcl-2/Bcl-xL,
            induces a caspase-independent autophagic cell death
  JOURNAL   Cell Death Differ 10 (7), 798-807 (2003)
   PUBMED   12815463
REFERENCE   8  (bases 1 to 2205)
  AUTHORS   Nakano,Y., Fujitani,K., Kurihara,J., Ragan,J., Usui-Aoki,K.,
            Shimoda,L., Lukacsovich,T., Suzuki,K., Sezaki,M., Sano,Y., Ueda,R.,
            Awano,W., Kaneda,M., Umeda,M. and Yamamoto,D.
  TITLE     Mutations in the novel membrane protein spinster interfere with
            programmed cell death and cause neural degeneration in Drosophila
            melanogaster
  JOURNAL   Mol Cell Biol 21 (11), 3775-3788 (2001)
   PUBMED   11340170
  REMARK    GeneRIF: Spinster protein interferes with programmed cell death in
            Drosophila melanogaster and has orthologs in nematode, mouse, and
            human.
REFERENCE   9  (bases 1 to 2205)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG771918.1, BC008325.1 and CD368853.1.
            
            On Nov 22, 2018 this sequence version replaced NM_032038.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1). Variants 1 and 2
            both encode isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF212371.1, SRR3476690.774109.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311008.16/ ENSP00000309945.11
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-172               BG771918.1         12-183
            173-2097            BC008325.1         1-1925
            2098-2205           CD368853.1         23-130              c
FEATURES             Location/Qualifiers
     source          1..2205
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2205
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /note="SPNS lysolipid transporter 1, lysophospholipid"
                     /db_xref="GeneID:83985"
                     /db_xref="HGNC:HGNC:30621"
                     /db_xref="MIM:612583"
     exon            1..615
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     CDS             375..1961
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sphingolipid transporter 1 (putative); solute carrier
                     family 63 member 1; protein spinster homolog 1;
                     spinster-like protein 1; SPNS sphingolipid transporter 1
                     (putative)"
                     /codon_start=1
                     /product="protein spinster homolog 1 isoform 1"
                     /protein_id="NP_114427.1"
                     /db_xref="CCDS:CCDS10646.1"
                     /db_xref="GeneID:83985"
                     /db_xref="HGNC:HGNC:30621"
                     /db_xref="MIM:612583"
                     /translation="MAGSDTAPFLSQADDPDDGPVPGTPGLPGSTGNPKSEEPEVPDQ
                     EGLQRITGLSPGRSALIVAVLCYINLLNYMDRFTVAGVLPDIEQFFNIGDSSSGLIQT
                     VFISSYMVLAPVFGYLGDRYNRKYLMCGGIAFWSLVTLGSSFIPGEHFWLLLLTRGLV
                     GVGEASYSTIAPTLIADLFVADQRSRMLSIFYFAIPVGSGLGYIAGSKVKDMAGDWHW
                     ALRVTPGLGVVAVLLLFLVVREPPRGAVERHSDLPPLNPTSWWADLRALARNPSFVLS
                     SLGFTAVAFVTGSLALWAPAFLLRSRVVLGETPPCLPGDSCSSSDSLIFGLITCLTGV
                     LGVGLGVEISRRLRHSNPRADPLVCATGLLGSAPFLFLSLACARGSIVATYIFIFIGE
                     TLLSMNWAIVADILLYVVIPTRRSTAEAFQIVLSHLLGDAGSPYLIGLISDRLRRNWP
                     PSFLSEFRALQFSLMLCAFVGALGGAAFLGTAIFIEADRRRAQLHVQGLLHEAGSTDD
                     RIVVPQRGRSTRVPVASVLI"
     exon            616..681
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     exon            682..818
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     exon            819..970
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1037
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1183
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1339
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1340..1529
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1530..1595
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1596..1694
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1695..1866
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     exon            1867..2205
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2187..2192
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /note="hexamer: AATAAA"
     polyA_site      2205
                     /gene="SPNS1"
                     /gene_synonym="HSpin1; LAT; nrs; PP2030; SLC62A1; SLC63A1;
                     SPIN1; SPINL"
                     /note="major polyA site"
ORIGIN      
        1 acatgaccgg ctttaagcaa catggcggct gccgtggtgc agcgcccggg ctgagcgaca
       61 gcaagtgcag cgggctccta ccccgggtga ggggtggcct ccgcgtggga tcgtgccctc
      121 ttcagcccgc tcctgtcccc gacatcacgt gtattccgca cgtcccctcc gcgctgtgtg
      181 tctactgaga cggggaggcg tgacagggcc cgggtccctt ctcagtggtg ctctgtgctt
      241 cagggcaagc tccccgtctc cgggcgcact tccctcgcct gtgttcggtc catcctcctt
      301 tctccagcct cctcccctcg caggtgggat cgtcggtggg accggagcgc gggcgggcgc
      361 ggccccccgg gaccatggcc gggtccgaca ccgcgccctt cctcagccag gcggatgacc
      421 cggacgacgg gccagtgcct ggcaccccgg ggttgccagg gtccacgggg aacccgaagt
      481 ccgaggagcc cgaggtcccg gaccaggagg ggctgcagcg catcaccggc ctgtctcccg
      541 gccgttcggc tctcatagtg gcggtgctgt gctacatcaa tctcctgaac tacatggacc
      601 gcttcaccgt ggctggcgtc cttcccgaca tcgagcagtt cttcaacatc ggggacagta
      661 gctctgggct catccagacc gtgttcatct ccagttacat ggtgttggca cctgtgtttg
      721 gctacctggg tgacaggtac aatcggaagt atctcatgtg cgggggcatt gccttctggt
      781 ccctggtgac actggggtca tccttcatcc ccggagagca tttctggctg ctcctcctga
      841 cccggggcct ggtgggggtc ggggaggcca gttattccac catcgcgccc actctcattg
      901 ccgacctctt tgtggccgac cagcggagcc ggatgctcag catcttctac tttgccattc
      961 cggtgggcag tggtctgggc tacattgcag gctccaaagt gaaggatatg gctggagact
     1021 ggcactgggc tctgagggtg acaccgggtc taggagtggt ggccgttctg ctgctgttcc
     1081 tggtagtgcg ggagccgcca aggggagccg tggagcgcca ctcagatttg ccacccctga
     1141 accccacctc gtggtgggca gatctgaggg ctctggcaag aaatcctagt ttcgtcctgt
     1201 cttccctggg cttcactgct gtggcctttg tcacgggctc cctggctctg tgggctccgg
     1261 cattcctgct gcgttcccgc gtggtccttg gggagacccc accctgcctt cccggagact
     1321 cctgctcttc ctctgacagt ctcatctttg gactcatcac ctgcctgacc ggagtcctgg
     1381 gtgtgggcct gggtgtggag atcagccgcc ggctccgcca ctccaacccc cgggctgatc
     1441 ccctggtctg tgccactggc ctcctgggct ctgcaccctt cctcttcctg tcccttgcct
     1501 gcgcccgtgg tagcatcgtg gccacttata ttttcatctt cattggagag accctcctgt
     1561 ccatgaactg ggccatcgtg gccgacattc tgctgtacgt ggtgatccct acccgacgct
     1621 ccaccgccga ggccttccag atcgtgctgt cccacctgct gggtgatgct gggagcccct
     1681 acctcattgg cctgatctct gaccgcctgc gccggaactg gcccccctcc ttcttgtccg
     1741 agttccgggc tctgcagttc tcgctcatgc tctgcgcgtt tgttggggca ctgggcggcg
     1801 cagccttcct gggcaccgcc atcttcattg aggccgaccg ccggcgggca cagctgcacg
     1861 tgcagggcct gctgcacgaa gcagggtcca cagacgaccg gattgtggtg ccccagcggg
     1921 gccgctccac ccgcgtgccc gtggccagtg tgctcatctg agaggctgcc gctcacctac
     1981 ctgcacatct gccacagctg gccctgggcc caccccacga agggcctggg cctaacccct
     2041 tggcctggcc cagcttccag agggaccctg ggccgtgtgc cagctcccag acactacctg
     2101 ggtagctcag gggaggaggt gggggtccag gagggggatc cctctccaca ggggcagccc
     2161 caagggctcg gtgctatttg taacggaata aaatttgtag ccaga
//
