LOCUS       NM_178581               1715 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens histocompatibility minor 13 (HM13), transcript variant
            3, mRNA.
ACCESSION   NM_178581
VERSION     NM_178581.3
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 1715)
  AUTHORS   Avci,D., Heidasch,R., Costa,M., Luchtenborg,C., Kale,D., Brugger,B.
            and Lemberg,M.K.
  TITLE     Intramembrane protease SPP defines a cholesterol-regulated
            abundance control of the mevalonate pathway enzyme squalene
            synthase
  JOURNAL   J Biol Chem 300 (2), 105644 (2024)
   PUBMED   38218226
  REMARK    GeneRIF: Intramembrane protease SPP defines a cholesterol-regulated
            abundance control of the mevalonate pathway enzyme squalene
            synthase.
REFERENCE   2  (bases 1 to 1715)
  AUTHORS   Mentrup,T., Leinung,N., Patel,M., Fluhrer,R. and Schroder,B.
  TITLE     The role of SPP/SPPL intramembrane proteases in membrane protein
            homeostasis
  JOURNAL   FEBS J 291 (1), 25-44 (2024)
   PUBMED   37625440
  REMARK    GeneRIF: The role of SPP/SPPL intramembrane proteases in membrane
            protein homeostasis.
            Review article
REFERENCE   3  (bases 1 to 1715)
  AUTHORS   Yang,H., Li,Z., Wang,Z., Zhang,X., Dai,X., Zhou,G. and Ding,Q.
  TITLE     Histocompatibility Minor 13 (HM13), targeted by miR-760, exerts
            oncogenic role in breast cancer by suppressing autophagy and
            activating PI3K-AKT-mTOR pathway
  JOURNAL   Cell Death Dis 13 (8), 728 (2022)
   PUBMED   36153332
  REMARK    GeneRIF: Histocompatibility Minor 13 (HM13), targeted by miR-760,
            exerts oncogenic role in breast cancer by suppressing autophagy and
            activating PI3K-AKT-mTOR pathway.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1715)
  AUTHORS   Hsu,F.F., Chou,Y.T., Chiang,M.T., Li,F.A., Yeh,C.T., Lee,W.H. and
            Chau,L.Y.
  TITLE     Signal peptide peptidase promotes tumor progression via
            facilitating FKBP8 degradation
  JOURNAL   Oncogene 38 (10), 1688-1701 (2019)
   PUBMED   30348988
  REMARK    GeneRIF: Study demonstrates that SPP is highly induced in lung and
            breast cancers and promotes tumor progression, at least in part, by
            facilitating the degradation of mTOR inhibitor FKBP8.
REFERENCE   5  (bases 1 to 1715)
  AUTHORS   Kronenberg-Versteeg,D., Eichmann,M., Russell,M.A., de Ru,A.,
            Hehn,B., Yusuf,N., van Veelen,P.A., Richardson,S.J., Morgan,N.G.,
            Lemberg,M.K. and Peakman,M.
  TITLE     Molecular Pathways for Immune Recognition of Preproinsulin Signal
            Peptide in Type 1 Diabetes
  JOURNAL   Diabetes 67 (4), 687-696 (2018)
   PUBMED   29343547
  REMARK    GeneRIF: Preproinsulin signal peptide epitopes are processed by SPP
            and loaded for HLA-guided immune recognition via pathways that are
            enhanced during type 1 diabetes pathogenesis.
REFERENCE   6  (bases 1 to 1715)
  AUTHORS   Wood,A.J., Roberts,R.G., Monk,D., Moore,G.E., Schulz,R. and
            Oakey,R.J.
  TITLE     A screen for retrotransposed imprinted genes reveals an association
            between X chromosome homology and maternal germ-line methylation
  JOURNAL   PLoS Genet 3 (2), e20 (2007)
   PUBMED   17291163
REFERENCE   7  (bases 1 to 1715)
  AUTHORS   McLauchlan,J., Lemberg,M.K., Hope,G. and Martoglio,B.
  TITLE     Intramembrane proteolysis promotes trafficking of hepatitis C virus
            core protein to lipid droplets
  JOURNAL   EMBO J 21 (15), 3980-3988 (2002)
   PUBMED   12145199
REFERENCE   8  (bases 1 to 1715)
  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
  REMARK    GeneRIF: identification and molecular cloning; expression analysis
            of the hIMP1 gene (located on chromosome 20) was performed in human
            cell tissues and transfected cell cultures [IMP1]
REFERENCE   9  (bases 1 to 1715)
  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
  REMARK    GeneRIF: identified human signal peptide peptidase as a polytopic
            membrane protein with sequence motifs characteristic of the
            presenilin-type aspartic proteases [SPP]
REFERENCE   10 (bases 1 to 1715)
  AUTHORS   Lemberg,M.K., Bland,F.A., Weihofen,A., Braud,V.M. and Martoglio,B.
  TITLE     Intramembrane proteolysis of signal peptides: an essential step in
            the generation of HLA-E epitopes
  JOURNAL   J Immunol 167 (11), 6441-6446 (2001)
   PUBMED   11714810
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI552780.1, AY169312.1 and
            AL110115.38.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_178581.2.
            
            Summary: The protein encoded by this gene, which localizes to the
            endoplasmic reticulum, catalyzes intramembrane proteolysis of some
            signal peptides after they have been cleaved from a preprotein.
            This activity is required to generate signal sequence-derived human
            lymphocyte antigen-E epitopes that are recognized by the immune
            system, and to process hepatitis C virus core protein. The encoded
            protein is an integral membrane protein with sequence motifs
            characteristic of the presenilin-type aspartic proteases. Multiple
            transcript variants encoding several different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) contains an alternate in-frame
            exon compared to variant 1, resulting in an isoform (3) which is
            longer compared to isoform 1.
            
            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 :: AY169312.1, SRR14038193.2009361.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 17291163
            MANE Ensembl match     :: ENST00000398174.9/ ENSP00000381237.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-626               BI552780.1         18-643
            627-1699            AY169312.1         616-1688
            1700-1715           AL110115.38        43126-43141
FEATURES             Location/Qualifiers
     source          1..1715
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..1715
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /note="histocompatibility minor 13"
                     /db_xref="GeneID:81502"
                     /db_xref="HGNC:HGNC:16435"
                     /db_xref="MIM:607106"
     exon            1..293
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..1391
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /EC_number="3.4.23.-"
                     /note="isoform 3 is encoded by transcript variant 3; minor
                     histocompatibility antigen 13; minor histocompatibility
                     antigen H13; presenilin-like protein 3; signal peptide
                     peptidase beta; intramembrane protease 1; signal peptide
                     peptidase like 1"
                     /codon_start=1
                     /product="minor histocompatibility antigen H13 isoform 3"
                     /protein_id="NP_848696.1"
                     /db_xref="CCDS:CCDS42861.1"
                     /db_xref="GeneID:81502"
                     /db_xref="HGNC:HGNC:16435"
                     /db_xref="MIM:607106"
                     /translation="MDSALSDPHNGSAEAGGPTNSTTRPPSTPEGIALAYGSLLLMAL
                     LPIFFGALRSVRCARGKNASDMPETITSRDAARFPIIASCTLLGLYLFFKIFSQEYIN
                     LLLSMYFFVLGILALSHTISPFMNKFFPASFPNRQYQLLFTQGSGENKEEIINYEFDT
                     KDLVCLGLSSIVGVWYLLRKHWIANNLFGLAFSLNGVELLHLNNVSTGCILLGGLFIY
                     DVFWVFGTNVMVTVAKSFEAPIKLVFPQDLLEKGLEANNFAMLGLGDVVIPGIFIALL
                     LRFDISLKKNTHTYFYTSFAAYIFGLGLTIFIMHIFKHAQPALLYLVPACIGFPVLVA
                     LAKGEVTEMFSYESSAEILPHTPRLTHFPTVSGSPASLADSMQQKLAGPRRRRPQNPS
                     AIYEESNPKDPAAVTESKEGTEASASKGLEKKEK"
     exon            294..392
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            393..475
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            476..564
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            565..650
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            651..776
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            777..834
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            835..918
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            919..955
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1058
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..1144
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1145..1291
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1715
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1693..1698
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /note="hexamer: ATTAAA"
     polyA_site      1715
                     /gene="HM13"
                     /gene_synonym="H13; IMP1; IMPAS; IMPAS-1; MSTP086; PSENL3;
                     PSL3; SPP; SPPL1"
                     /note="major polyA site"
ORIGIN      
        1 acttcctgtt gccttagggg aacgtggctt tccctgcaga gccggtgtct ccgcctgcgt
       61 ccctgctgca gcaaccggag ctggagtcgg atcccgaacg caccctcgcc atggactcgg
      121 ccctcagcga tccgcataac ggcagtgccg aggcaggcgg ccccaccaac agcactacgc
      181 ggccgccttc cacgcccgag ggcatcgcgc tggcctacgg cagcctcctg ctcatggcgc
      241 tgctgcccat cttcttcggc gccctgcgct ccgtacgctg cgcccgcggc aagaatgctt
      301 cagacatgcc tgaaacaatc accagccggg atgccgcccg cttccccatc atcgccagct
      361 gcacactctt ggggctctac ctctttttca aaatattctc ccaggagtac atcaacctcc
      421 tgctgtccat gtatttcttc gtgctgggaa tcctggccct gtcccacacc atcagcccct
      481 tcatgaataa gttttttcca gccagctttc caaatcgaca gtaccagctg ctcttcacac
      541 agggttctgg ggaaaacaag gaagagatca tcaattatga atttgacacc aaggacctgg
      601 tgtgcctggg cctgagcagc atcgttggcg tctggtacct gctgaggaag cactggattg
      661 ccaacaacct ttttggcctg gccttctccc ttaatggagt agagctcctg cacctcaaca
      721 atgtcagcac tggctgcatc ctgctgggcg gactcttcat ctacgatgtc ttctgggtat
      781 ttggcaccaa tgtgatggtg acagtggcca agtccttcga ggcaccaata aaattggtgt
      841 ttccccagga tctgctggag aaaggcctcg aagcaaacaa ctttgccatg ctgggacttg
      901 gagatgtcgt cattccaggg atcttcattg ccttgctgct gcgctttgac atcagcttga
      961 agaagaatac ccacacctac ttctacacca gctttgcagc ctacatcttc ggcctgggcc
     1021 ttaccatctt catcatgcac atcttcaagc atgctcagcc tgccctccta tacctggtcc
     1081 ccgcctgcat cggttttcct gtcctggtgg cgctggccaa gggagaagtg acagagatgt
     1141 tcagctacga gtcctcggcg gaaatcctgc ctcatacccc gaggctcacc cacttcccca
     1201 cagtctcggg ctccccagcc agcctggccg actccatgca gcagaagcta gctggccctc
     1261 gccgccggcg cccgcagaat cccagcgcca tttatgagga gtcaaatcct aaggatccag
     1321 cggcagtgac agaatccaaa gagggaacag aggcatcagc atcgaagggg ctggagaaga
     1381 aagagaaatg atgcagctgg tgcccgagcc tctcagggcc agaccagaca gatgggggct
     1441 gggcccacac aggcgtgcac cggtagaggg cacaggaggc caagggcagc tccaggacag
     1501 ggcagggggc agcaggatac ctccagccag gcctctgtgg cctctgtttc cttctccctt
     1561 tcttggccct cctctgctcc tccccacacc ctgcaggcaa aagaaacccc cagcttcccc
     1621 cctccccggg agccaggtgg gaaaagtggg tgtgattttt agattttgta ttgtggactg
     1681 attttgcctc acattaaaaa ctcatcccat ggcca
//
