LOCUS       NM_175882               2187 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens signal peptide peptidase like 2C (SPPL2C), mRNA.
ACCESSION   NM_175882 XM_091623
VERSION     NM_175882.3
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 2187)
  AUTHORS   He,L., Loika,Y., Park,Y., Bennett,D.A., Kellis,M. and
            Kulminski,A.M.
  CONSRTM   Genotype Tissue Expression (GTEx) consortium; Alzheimer's Disease
            Neuroimaging Initiative
  TITLE     Exome-wide age-of-onset analysis reveals exonic variants in ERN1
            and SPPL2C associated with Alzheimer's disease
  JOURNAL   Transl Psychiatry 11 (1), 146 (2021)
   PUBMED   33637690
  REMARK    GeneRIF: Exome-wide age-of-onset analysis reveals exonic variants
            in ERN1 and SPPL2C associated with Alzheimer's disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2187)
  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   3  (bases 1 to 2187)
  AUTHORS   Papadopoulou,A.A., Muller,S.A., Mentrup,T., Shmueli,M.D.,
            Niemeyer,J., Haug-Kroper,M., von Blume,J., Mayerhofer,A.,
            Feederle,R., Schroder,B., Lichtenthaler,S.F. and Fluhrer,R.
  TITLE     Signal peptide peptidase-like 2c impairs vesicular transport and
            cleaves SNARE proteins
  JOURNAL   EMBO Rep 20 (3) (2019)
   PUBMED   30733281
  REMARK    GeneRIF: These data suggest involvement of SPPL2c in acrosome
            formation during spermatogenesis.
            Erratum:[EMBO Rep. 2019 May;20(5):e48133. doi:
            10.15252/embr.201948133.. PMID: 31061204]
REFERENCE   4  (bases 1 to 2187)
  AUTHORS   Niemeyer,J., Mentrup,T., Heidasch,R., Muller,S.A., Biswas,U.,
            Meyer,R., Papadopoulou,A.A., Dederer,V., Haug-Kroper,M.,
            Adamski,V., Lullmann-Rauch,R., Bergmann,M., Mayerhofer,A.,
            Saftig,P., Wennemuth,G., Jessberger,R., Fluhrer,R.,
            Lichtenthaler,S.F., Lemberg,M.K. and Schroder,B.
  TITLE     The intramembrane protease SPPL2c promotes male germ cell
            development by cleaving phospholamban
  JOURNAL   EMBO Rep 20 (3) (2019)
   PUBMED   30733280
  REMARK    GeneRIF: the sarco/endoplasmic reticulum Ca(2+)-ATPase
            (SERCA2)-regulating protein phospholamban (PLN) is identified as a
            physiological SPPL2c substrate.
REFERENCE   5  (bases 1 to 2187)
  AUTHORS   Noth,I., Zhang,Y., Ma,S.F., Flores,C., Barber,M., Huang,Y.,
            Broderick,S.M., Wade,M.S., Hysi,P., Scuirba,J., Richards,T.J.,
            Juan-Guardela,B.M., Vij,R., Han,M.K., Martinez,F.J., Kossen,K.,
            Seiwert,S.D., Christie,J.D., Nicolae,D., Kaminski,N. and
            Garcia,J.G.N.
  TITLE     Genetic variants associated with idiopathic pulmonary fibrosis
            susceptibility and mortality: a genome-wide association study
  JOURNAL   Lancet Respir Med 1 (4), 309-317 (2013)
   PUBMED   24429156
REFERENCE   6  (bases 1 to 2187)
  AUTHORS   Friedmann,E., Hauben,E., Maylandt,K., Schleeger,S., Vreugde,S.,
            Lichtenthaler,S.F., Kuhn,P.H., Stauffer,D., Rovelli,G. and
            Martoglio,B.
  TITLE     SPPL2a and SPPL2b promote intramembrane proteolysis of TNFalpha in
            activated dendritic cells to trigger IL-12 production
  JOURNAL   Nat Cell Biol 8 (8), 843-848 (2006)
   PUBMED   16829952
REFERENCE   7  (bases 1 to 2187)
  AUTHORS   Park,J.W., Cai,J., McIntosh,I., Jabs,E.W., Fallin,M.D.,
            Ingersoll,R., Hetmanski,J.B., Vekemans,M., Attie-Bitach,T.,
            Lovett,M., Scott,A.F. and Beaty,T.H.
  TITLE     High throughput SNP and expression analyses of candidate genes for
            non-syndromic oral clefts
  JOURNAL   J Med Genet 43 (7), 598-608 (2006)
   PUBMED   16415175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2187)
  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
            [SPPL2c]
REFERENCE   9  (bases 1 to 2187)
  AUTHORS   Pastor,P., Ezquerra,M., Perez,J.C., Chakraverty,S., Norton,J.,
            Racette,B.A., McKeel,D., Perlmutter,J.S., Tolosa,E. and Goate,A.M.
  TITLE     Novel haplotypes in 17q21 are associated with progressive
            supranuclear palsy
  JOURNAL   Ann Neurol 56 (2), 249-258 (2004)
   PUBMED   15293277
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2187)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC217771.1.
            
            On May 17, 2019 this sequence version replaced NM_175882.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 is intronless :: BC022041.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329196.7/ ENSP00000332488.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2187              AC217771.1         58781-60967         c
FEATURES             Location/Qualifiers
     source          1..2187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..2187
                     /gene="SPPL2C"
                     /gene_synonym="IMP5"
                     /note="signal peptide peptidase like 2C"
                     /db_xref="GeneID:162540"
                     /db_xref="HGNC:HGNC:28902"
                     /db_xref="MIM:608284"
     exon            1..2187
                     /gene="SPPL2C"
                     /gene_synonym="IMP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..2081
                     /gene="SPPL2C"
                     /gene_synonym="IMP5"
                     /note="IMP-5; SPP-like 2C; intramembrane protease 5"
                     /codon_start=1
                     /product="signal peptide peptidase-like 2C precursor"
                     /protein_id="NP_787078.2"
                     /db_xref="CCDS:CCDS32673.1"
                     /db_xref="GeneID:162540"
                     /db_xref="HGNC:HGNC:28902"
                     /db_xref="MIM:608284"
                     /translation="MACLGFLLPVGFLLLISTVAGGKYGVAHVVSENWSKDYCILFSS
                     DYITLPRDLHHAPLLPLYDGTKAPWCPGEDSPHQAQLRSPSQRPLRQTTAMVMRGNCS
                     FHTKGWLAQGQGAHGLLIVSRVSDQQCSDTTLAPQDPRQPLADLTIPVAMLHYADMLD
                     ILSHTRGEAVVRVAMYAPPEPIIDYNMLVIFILAVGTVAAGGYWAGLTEANRLQRRRA
                     RRGGGSGGHHQLQEAAAAEGAQKEDNEDIPVDFTPAMTGVVVTLSCSLMLLLYFFYDH
                     FVYVTIGIFGLGAGIGLYSCLSPLVCRLSLRQYQRPPHSLWASLPLPLLLLASLCATV
                     IIFWVAYRNEDRWAWLLQDTLGISYCLFVLHRVRLPTLKNCSSFLLALLAFDVFFVFV
                     TPFFTKTGESIMAQVALGPAESSSHERLPMVLKVPRLRVSALTLCSQPFSILGFGDIV
                     VPGFLVAYCCRFDVQVCSRQIYFVACTVAYAVGLLVTFMAMVLMQMGQPALLYLVSST
                     LLTSLAVAACRQELSLFWTGQGRAKMCGLGCAPSAGSRQKQEGAADAHTASTLERGTS
                     RGAGDLDSNPGEDTTEIVTISENEATNPEDRSDSSEGWSDAHLDPNELPFIPPGASEE
                     LMPLMPMAMLIPLMPLMPPPSELGHVHAQAQAHETGLPWAGLHKRKGLKVRKSMSTQA
                     PL"
     regulatory      2154..2159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPPL2C"
                     /gene_synonym="IMP5"
                     /note="hexamer: AAGAAA"
     polyA_site      2187
                     /gene="SPPL2C"
                     /gene_synonym="IMP5"
                     /note="major polyA site"
ORIGIN      
        1 agatgttgca gtaggaactg aagaagatgg cgtgcctggg cttcctcctc cccgtgggct
       61 tcctcctcct catcagcacc gtggccgggg gaaagtacgg cgtggcccac gtggtgtcgg
      121 agaattggag caaggactac tgtatcctgt tcagctccga ctacatcacc ctcccccggg
      181 acctgcacca cgccccactc ctgcccctgt atgatggcac caaggcaccc tggtgcccgg
      241 gtgaggattc cccccaccag gcccagctcc gctcccccag ccagcggccc ctccgccaga
      301 ccactgccat ggtcatgagg ggtaactgca gcttccacac gaaaggctgg ctggctcagg
      361 gccaaggtgc ccacgggctg ctcatcgtga gccgggtcag tgaccaacag tgctcagaca
      421 ccaccctggc accccaggat ccccgccagc ccctggcaga cctcaccatc cctgtggcta
      481 tgctccacta tgctgacatg ctggacatcc tcagccacac tcgtggggag gccgtcgtcc
      541 gcgtggccat gtacgcaccc ccagagccca tcatcgacta caacatgctg gtcatcttca
      601 tcctggctgt gggcacagtg gctgcaggcg gctactgggc cggcctgacc gaagccaacc
      661 ggctacagcg gcgccgtgcc cgaagaggag gggggtctgg tggtcaccat cagctgcagg
      721 aagctgcagc agctgaggga gcccagaagg aagataatga ggacatccca gtggacttca
      781 cgccggccat gacaggcgtg gtggtcaccc tgtcctgctc gctcatgctg ctgctctact
      841 tcttctatga ccactttgtc tatgtcacca ttgggatctt tggcctgggt gctggcattg
      901 gcctctacag ctgcctgtca cccctggtgt gccgcctgtc cctgcggcaa taccagaggc
      961 ctccgcacag cctctgggcc tctctgccgc tgcctctgct gctgctggcg agcctgtgcg
     1021 caaccgtgat catcttctgg gtggcctacc gcaatgagga ccgctgggcg tggctcctgc
     1081 aggacacact gggcatttcc tactgcctgt tcgtcctgca ccgtgtgcgg ctgcccactc
     1141 tcaagaactg ctcctccttc ctgctggccc tgctggcctt tgatgtcttc tttgtcttcg
     1201 tcaccccctt cttcaccaaa accggtgaga gcatcatggc gcaggttgcc ttgggccctg
     1261 cagagtcttc aagccatgag aggctgccca tggtactcaa agtgccccgg ctaagagtct
     1321 ccgccttgac cctgtgcagc cagcccttct ccatccttgg cttcggtgac attgtggtcc
     1381 ccggcttcct ggttgcttac tgttgccgct ttgatgtgca agtctgctcc cgtcagatct
     1441 acttcgtggc ctgcaccgtg gcctatgctg tgggcctgct ggtcacattc atggccatgg
     1501 tcctcatgca gatgggccaa cctgccttgc tctacctagt gtccagcacc ctgctcacca
     1561 gcctggctgt ggctgcctgc cgccaagagc tcagcctctt ctggactggc cagggcagag
     1621 ctaagatgtg tgggctcggc tgtgcccctt cagctggctc taggcagaag caggagggcg
     1681 cagcagatgc ccacacagcc agcacacttg agagaggcac cagccgagga gcaggggact
     1741 tagacagcaa ccctggagaa gacaccactg agattgtcac catatctgag aatgaagcca
     1801 ccaatccaga ggaccgcagt gatagctccg agggctggag tgacgcccac ttggatccta
     1861 atgagctgcc cttcatcccc cctggggcct cggaggagct gatgccactg atgccaatgg
     1921 ccatgctgat cccactcatg cccctgatgc ccccgccctc agagctgggc catgtccatg
     1981 cccaggccca ggcccacgag actggcctgc cctgggcggg actccacaag aggaagggtt
     2041 tgaaagtaag aaagagcatg tcgacccagg ctcccttgtg aactggaggc actgggacac
     2101 acgcctctca aagggctggt ggaacattgc agagcaaagc catgcatggc aacaagaaat
     2161 cagggtatca aagagatttc atatcta
//
