LOCUS       NM_139015               4135 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens signal peptide peptidase like 3 (SPPL3), mRNA.
ACCESSION   NM_139015
VERSION     NM_139015.5
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 4135)
  AUTHORS   Hobohm,L., Koudelka,T., Bahr,F.H., Truberg,J., Kapell,S.,
            Schacht,S.S., Meisinger,D., Mengel,M., Jochimsen,A., Hofmann,A.,
            Heintz,L., Tholey,A. and Voss,M.
  TITLE     N-terminome analyses underscore the prevalence of SPPL3-mediated
            intramembrane proteolysis among Golgi-resident enzymes and its role
            in Golgi enzyme secretion
  JOURNAL   Cell Mol Life Sci 79 (3), 185 (2022)
   PUBMED   35279766
  REMARK    GeneRIF: N-terminome analyses underscore the prevalence of
            SPPL3-mediated intramembrane proteolysis among Golgi-resident
            enzymes and its role in Golgi enzyme secretion.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4135)
  AUTHORS   Kawaguchi,K., Yamamoto-Hino,M. and Goto,S.
  TITLE     SPPL3-dependent downregulation of the synthesis of
            (neo)lacto-series glycosphingolipid is required for the staining of
            cell surface CD59
  JOURNAL   Biochem Biophys Res Commun 571, 81-87 (2021)
   PUBMED   34303967
  REMARK    GeneRIF: SPPL3-dependent downregulation of the synthesis of
            (neo)lacto-series glycosphingolipid is required for the staining of
            cell surface CD59.
REFERENCE   3  (bases 1 to 4135)
  AUTHORS   Jongsma,M.L.M., de Waard,A.A., Raaben,M., Zhang,T., Cabukusta,B.,
            Platzer,R., Blomen,V.A., Xagara,A., Verkerk,T., Bliss,S., Kong,X.,
            Gerke,C., Janssen,L., Stickel,E., Holst,S., Plomp,R., Mulder,A.,
            Ferrone,S., Claas,F.H.J., Heemskerk,M.H.M., Griffioen,M.,
            Halenius,A., Overkleeft,H., Huppa,J.B., Wuhrer,M.,
            Brummelkamp,T.R., Neefjes,J. and Spaapen,R.M.
  TITLE     The SPPL3-Defined Glycosphingolipid Repertoire Orchestrates HLA
            Class I-Mediated Immune Responses
  JOURNAL   Immunity 54 (1), 132-150 (2021)
   PUBMED   33271119
  REMARK    GeneRIF: The SPPL3-Defined Glycosphingolipid Repertoire
            Orchestrates HLA Class I-Mediated Immune Responses.
            Erratum:[Immunity. 2021 Feb 9;54(2):387. doi:
            10.1016/j.immuni.2021.01.016.. PMID: 33567263]
REFERENCE   4  (bases 1 to 4135)
  AUTHORS   Ostalecki,C., Lee,J.H., Dindorf,J., Collenburg,L., Schierer,S.,
            Simon,B., Schliep,S., Kremmer,E., Schuler,G. and Baur,A.S.
  TITLE     Multiepitope tissue analysis reveals SPPL3-mediated ADAM10
            activation as a key step in the transformation of melanocytes
  JOURNAL   Sci Signal 10 (470) (2017)
   PUBMED   28292959
  REMARK    GeneRIF: Data suggest that activation of the metalloproteinase
            ADAM10 by signal peptide peptidase-like 3 (SPPL3) triggered by
            mutant BRAF(V600E) was a critical transformation event.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4135)
  AUTHORS   Kuhn,P.H., Voss,M., Haug-Kroper,M., Schroder,B., Schepers,U.,
            Brase,S., Haass,C., Lichtenthaler,S.F. and Fluhrer,R.
  TITLE     Secretome analysis identifies novel signal Peptide peptidase-like 3
            (Sppl3) substrates and reveals a role of Sppl3 in multiple Golgi
            glycosylation pathways
  JOURNAL   Mol Cell Proteomics 14 (6), 1584-1598 (2015)
   PUBMED   25827571
  REMARK    GeneRIF: Secretome analysis identifies novel signal Peptide
            peptidase-like 3 substrates and reveals a role of Sppl3 in multiple
            Golgi glycosylation pathways
            GeneRIF: SPPL3 substrates identified on a proteome-wide scale in
            human and murine cells include numerous glycan-modifying enzymes
            residing in the Golgi network and implicated in distinct
            glycosylation pathways, including N-glycosylation, mucin-type
            O-glycosylation, O-mannosylation and glycosaminoglycan
            biosynthesis.
REFERENCE   6  (bases 1 to 4135)
  AUTHORS   Krawitz,P., Haffner,C., Fluhrer,R., Steiner,H., Schmid,B. and
            Haass,C.
  TITLE     Differential localization and identification of a critical
            aspartate suggest non-redundant proteolytic functions of the
            presenilin homologues SPPL2b and SPPL3
  JOURNAL   J Biol Chem 280 (47), 39515-39523 (2005)
   PUBMED   15998642
  REMARK    GeneRIF: SPPL2b is targeted through the secretory pathway to
            endosomes/lysosomes, whereas SPP and SPPL3 are restricted to the
            ER.
REFERENCE   7  (bases 1 to 4135)
  AUTHORS   Friedmann,E., Lemberg,M.K., Weihofen,A., Dev,K.K., Dengler,U.,
            Rovelli,G. and Martoglio,B.
  TITLE     Consensus analysis of signal peptide peptidase and homologous human
            aspartic proteases reveals opposite topology of catalytic domains
            compared with presenilins
  JOURNAL   J Biol Chem 279 (49), 50790-50798 (2004)
   PUBMED   15385547
  REMARK    GeneRIF: SPP, SPPL2a, -2b, -2c, and -3 probably cleave type
            II-oriented substrate peptides as shown by consensus analysis
REFERENCE   8  (bases 1 to 4135)
  AUTHORS   Grigorenko,A.P., Moliaka,Y.K., Korovaitseva,G.I. and Rogaev,E.I.
  TITLE     Novel class of polytopic proteins with domains associated with
            putative protease activity
  JOURNAL   Biochemistry (Mosc) 67 (7), 826-835 (2002)
   PUBMED   12139484
REFERENCE   9  (bases 1 to 4135)
  AUTHORS   Weihofen,A., Binns,K., Lemberg,M.K., Ashman,K. and Martoglio,B.
  TITLE     Identification of signal peptide peptidase, a presenilin-type
            aspartic protease
  JOURNAL   Science 296 (5576), 2215-2218 (2002)
   PUBMED   12077416
REFERENCE   10 (bases 1 to 4135)
  AUTHORS   Petroff,O.A., Novotny,E.J., Ogino,T., Avison,M. and Prichard,J.W.
  TITLE     In vivo measurements of ethanol concentration in rabbit brain by 1H
            magnetic resonance spectroscopy
  JOURNAL   J Neurochem 54 (4), 1188-1195 (1990)
   PUBMED   2313285
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC069214.14 and AC069234.35.
            
            On Nov 23, 2018 this sequence version replaced NM_139015.4.
            
            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 :: AJ345030.1, BC073910.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000353487.7/ ENSP00000288680.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-514               AC069214.14        6380-6893
            515-592             AC069234.35        7309-7386
            593-681             AC069234.35        26638-26726
            682-801             AC069234.35        33602-33721
            802-880             AC069234.35        34443-34521
            881-993             AC069234.35        35428-35540
            994-1100            AC069234.35        49136-49242
            1101-1264           AC069234.35        49707-49870
            1265-1464           AC069234.35        50602-50801
            1465-1574           AC069234.35        51823-51932
            1575-4135           AC069234.35        53125-55685
FEATURES             Location/Qualifiers
     source          1..4135
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..4135
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /note="signal peptide peptidase like 3"
                     /db_xref="GeneID:121665"
                     /db_xref="HGNC:HGNC:30424"
                     /db_xref="MIM:608240"
     exon            1..514
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /inference="alignment:Splign:2.1.0"
     CDS             492..1646
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /note="presenilin-like protein 4; SPP-like 3;
                     intramembrane protease 2; presenilin homologous protein 1"
                     /codon_start=1
                     /product="signal peptide peptidase-like 3"
                     /protein_id="NP_620584.2"
                     /db_xref="CCDS:CCDS9208.1"
                     /db_xref="GeneID:121665"
                     /db_xref="HGNC:HGNC:30424"
                     /db_xref="MIM:608240"
                     /translation="MAEQTYSWAYSLVDSSQVSTFLISILLIVYGSFRSLNMDFENQD
                     KEKDSNSSSGSFNGNSTNNSIQTIDSTQALFLPIGASVSLLVMFFFFDSVQVVFTICT
                     AVLATIAFAFLLLPMCQYLTRPCSPQNKISFGCCGRFTAAELLSFSLSVMLVLIWVLT
                     GHWLLMDALAMGLCVAMIAFVRLPSLKVSCLLLSGLLIYDVFWVFFSAYIFNSNVMVK
                     VATQPADNPLDVLSRKLHLGPNVGRDVPRLSLPGKLVFPSSTGSHFSMLGIGDIVMPG
                     LLLCFVLRYDNYKKQASGDSCGAPGPANISGRMQKVSYFHCTLIGYFVGLLTATVASR
                     IHRAAQPALLYLVPFTLLPLLTMAYLKGDLRRMWSEPFHSKSSSSRFLEV"
     exon            515..592
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /inference="alignment:Splign:2.1.0"
     exon            593..681
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /inference="alignment:Splign:2.1.0"
     exon            682..801
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /inference="alignment:Splign:2.1.0"
     exon            802..880
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /inference="alignment:Splign:2.1.0"
     exon            881..993
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1100
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..1264
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1464
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1465..1574
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..4135
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2190..2195
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /note="hexamer: ATTAAA"
     polyA_site      2195
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /note="major polyA site"
     regulatory      2359..2364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /note="hexamer: AATGAA"
     polyA_site      2374
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
     regulatory      2730..2735
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /note="hexamer: AATACA"
     polyA_site      2750
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
     regulatory      3395..3400
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /note="hexamer: AATAAA"
     polyA_site      3423
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
     regulatory      4110..4115
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
                     /note="hexamer: ATTAAA"
     polyA_site      4135
                     /gene="SPPL3"
                     /gene_synonym="IMP2; MDHV1887; PRO4332; PSH1; PSL4"
ORIGIN      
        1 ctcccctcgg cgggtgtgat cgagtggcct cgcctcatcg cctagcgccc ccctcagtcg
       61 ccgccgcctc cgcccgccgg ccatgtcccc cggccgccgc cgccgccgcc cgagcgcggc
      121 gctcccgcgg ccccgcgcgc agtgagcgcg ggcccgtctt gccgttcgcc cgccccaggg
      181 cccccttgtt ctccgcgccg ccgccgccgc catgttgggt ttggagctgc agcggagccg
      241 ccgccgccgc cgcgggtgag ggaggccgag agcggagccc gccccgcccc ggggcccagg
      301 gagcggggcc gcttcggagc ccggcctctc cccgccagcc gccttcccgg cccgccgtgc
      361 agccagcgag ccagcgagcg agcaagcaag caagcaccgg accccggccg cgccttcagc
      421 tacggcccga gcgagcccgc cgccgccggg cccggccaca gcctgcagcg gagcccacga
      481 gaggcagcgc catggcggag cagacctact cgtgggccta ttccctggtg gattccagtc
      541 aagtgtctac atttctgatt tccattcttc ttatagtcta tggtagtttc aggtccctta
      601 atatggactt tgaaaatcaa gataaggaga aagacagtaa tagttcttct gggtctttca
      661 atggcaacag caccaataat agcatccaaa caattgactc tacccaggct ctgttccttc
      721 caattggagc atctgtctct cttttagtaa tgttcttctt ctttgactca gttcaagtag
      781 tttttacaat atgtacagca gttcttgcaa cgatagcttt tgcttttctt ctcctcccga
      841 tgtgccagta tttaacaaga ccctgctcac ctcagaacaa gatttccttt ggttgctgtg
      901 gacgtttcac tgctgctgag ttgctgtcat tctctctgtc tgtcatgctc gtcctcatct
      961 gggttctcac tggccattgg cttctcatgg atgcactggc catgggcctc tgtgtcgcca
     1021 tgatcgcctt tgtccgcctg ccgagcctca aggtctcctg cctgcttctc tcagggcttc
     1081 tcatctatga tgtcttttgg gtatttttct cagcctacat cttcaatagc aacgtcatgg
     1141 tgaaggtggc cactcagccg gctgacaatc cccttgacgt tctatcccgg aagctccacc
     1201 tggggcccaa tgttgggcgt gatgttcctc gcctgtctct gcctggaaaa ctggtcttcc
     1261 caagctccac tggcagccac ttctccatgt tgggcatcgg agacatcgtt atgcctggtc
     1321 tcctactatg ctttgtcctt cgctatgaca actacaaaaa gcaagccagt ggggactcct
     1381 gtggggcccc tggacctgcc aacatctccg ggcgcatgca gaaggtctcc tactttcact
     1441 gcaccctcat cggatacttt gtaggcctgc tcactgctac tgtggcgtct cgcattcacc
     1501 gggccgccca gcccgccctt ctctatttgg tgccatttac tttattgcca ctcctcacga
     1561 tggcctattt aaagggcgac ctccggcgga tgtggtctga gcctttccac tccaagtcca
     1621 gcagctcccg attcctggaa gtatgatgga tcacgtggaa agtgaccaga tggccgtcat
     1681 agtccttttc tctcaactca tggtttgttt cctcttagag ctggcctggt actcagaaat
     1741 gtacctgtgt ttaaggaact gccgtgtgac tggatttggc atttaaaggg agctcgtttg
     1801 caggagagag gtgctggagc cctgtttggt tccttctctt cctgcggatg tagaggtggg
     1861 gccccttcca agagggacag gcctctcccc agcgcgcctt cctcccacgt ttttatggat
     1921 ctgcaccaga ctgttacctt ctgggggaga tggagatttg actgtttaaa aactgaaaac
     1981 agcgaggagt ctttctagaa cttttgaaca ctaaaaggat gaaaaaaatt agcaaaccga
     2041 agtttcttca atgacccctc gagaactttg ggaccagttt cctatagggg actcagtttc
     2101 agagaactga gacagaagct cttctgtcgt tatattcttc tttccttttt ttggatttat
     2161 taaatatttt ctgtggtgtg aagtgactta ttaaatccac agacattgag tgacttctta
     2221 caacatccac ataagaattt gttgtaatga gttcatgtcc acccagatgt tgtgttggca
     2281 gtgaacaagg gcacggtttt tatacatacg tacatatata tatataaaca cacacataga
     2341 tatatatgaa taaacaaaaa tgaaatcctg ctaagatcac gctgtgtagc tgacaggggc
     2401 ttgctgtcgt tttgagcatg tcgagcagtt tactgtggct tccttgtata tggataagct
     2461 gctgtccttc cccttcacaa ctgaccccgc agttacaaac tagtatagca tttgtgctga
     2521 ttgatgatag actcatggac ttcaggagcc cttacttggt tttgatcagt gtagcaaatt
     2581 agggatgaag agttcaaacc ttttggccct ttctttcttt tctaggcttc tccctcgcag
     2641 ggtgttccgt agtttcttct cgagccaatg catgtattat agcagcaggt gtctttgtgc
     2701 tttctcatca tagtaacgta ctacttgtaa atacattttt ctattttcta tttttttgta
     2761 tttttttttt tgacattttg tttcattggt gtgctgtata ttttccatgc cctcactcct
     2821 ttaagaaaaa aaaaaaggaa aaaagcaaca caatcctgtc cttgctgttg tgattatagt
     2881 cttggtttac ctgtggtgac aaccgggtgt tggggacaca tgtcaaatgc ccctctgaga
     2941 tgggccctaa attccagtaa ctggggaaag aaccagctgc tgtgtcctga gagcctggcc
     3001 ctgtgctgtg gtctctgctg caagcccaga tttctgggag taactagtgt taggtctgct
     3061 gacctttacc taagcagccc ctgcctggta agaaggtgcc cattgttcag aggcaaagag
     3121 aagcctgcgg ttggcatgag gatgcctgac aacaaaggct ggagaagggc cctgagttcc
     3181 agcctctccc caagggtccc cgccccagtg gctgcctctg tcttgacctg tgtaatgaat
     3241 tagtgtgctg tgtcactgtg gcttgaagtc actgtggatc gagctcacag ggggcaccca
     3301 tcctgttgtc aacagagtct gaagcagtca gggtgttgga ttcctctgtt gttgtcatca
     3361 attcctgctg aggggtttct ggggttttgt ttttaataaa tgactccttt gtagcctttg
     3421 tcacataatc ttcactttgg ttgttggtac caaacagagc tcccagccat ctcctccctg
     3481 ttctggaaga ctgatgggaa gactctgtct gtccccagac ctggtcatct gcagctctgg
     3541 cccagtcata gatacatcaa agaactgaag cttctgctgt ccacagaact caaaactgcc
     3601 tctgcattgg gtgaagacta aaaatccact tgcggactct cccttccttc cttctcagcc
     3661 ctcgaggatg catatagcta attaagcagg cccagagaca gagagggggg ctccaaaatg
     3721 actcggatta agggcaagtg ccagtgatgg gtagaaataa cgttatcctt catgcctgta
     3781 atcccagcac tttgggaggc cgaggcaggt ggatcacaag gttgggagct cgagaccagc
     3841 ctggccaaca tggtgaaacc ccgtctctac taaaaacaca aaaattagct gggcatggtg
     3901 gcaggcgcct gtaatcccag ctatttggga ggctgaggca gaagaatcgc ttgaacctgg
     3961 aaggcggagg ttgcagtgag cagagattgc gccactgcac tcaagtctgg gcgacagggt
     4021 gagactccat ctcaaaaaaa aaaaaaaaaa ggaaatgtta tcctggcagt gggtcatttt
     4081 aatttttctg tctttgtttt cataagaaaa ttaaattcca gacagaagga acgtc
//
