LOCUS       NM_005857               2975 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens zinc metallopeptidase STE24 (ZMPSTE24), mRNA.
ACCESSION   NM_005857
VERSION     NM_005857.5
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 2975)
  AUTHORS   Worman,H.J. and Michaelis,S.
  TITLE     Prelamin A and ZMPSTE24 in premature and physiological aging
  JOURNAL   Nucleus 14 (1), 2270345 (2023)
   PUBMED   37885131
  REMARK    GeneRIF: Prelamin A and ZMPSTE24 in premature and physiological
            aging.
            Review article
REFERENCE   2  (bases 1 to 2975)
  AUTHORS   Kaufmann,L., Pilic,J., Auinger,L., Mayer,A.L., Blatterer,J.,
            Semmler-Bruckner,J., Abbas,S., Rehman,K., Ayaz,M., Graier,W.F.,
            Malli,R., Petek,E., Wagner,K., Al Kaissi,A., Khan,M.A. and
            Windpassinger,C.
  TITLE     Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24
            reveals utilization of alternative translation initiation codons
  JOURNAL   Clin Genet 104 (4), 491-496 (2023)
   PUBMED   37270786
  REMARK    GeneRIF: Analysis of a non-lethal biallelic frameshift mutation in
            ZMPSTE24 reveals utilization of alternative translation initiation
            codons.
REFERENCE   3  (bases 1 to 2975)
  AUTHORS   Shilagardi,K., Spear,E.D., Abraham,R., Griffin,D.E. and
            Michaelis,S.
  TITLE     The Integral Membrane Protein ZMPSTE24 Protects Cells from
            SARS-CoV-2 Spike-Mediated Pseudovirus Infection and Syncytia
            Formation
  JOURNAL   mBio 13 (5), e0254322 (2022)
   PUBMED   36197088
  REMARK    GeneRIF: The Integral Membrane Protein ZMPSTE24 Protects Cells from
            SARS-CoV-2 Spike-Mediated Pseudovirus Infection and Syncytia
            Formation.
REFERENCE   4  (bases 1 to 2975)
  AUTHORS   Navarro,C.L., Cadinanos,J., De Sandre-Giovannoli,A., Bernard,R.,
            Courrier,S., Boccaccio,I., Boyer,A., Kleijer,W.J., Wagner,A.,
            Giuliano,F., Beemer,F.A., Freije,J.M., Cau,P., Hennekam,R.C.,
            Lopez-Otin,C., Badens,C. and Levy,N.
  TITLE     Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive
            dermopathy and accumulation of Lamin A precursors
  JOURNAL   Hum Mol Genet 14 (11), 1503-1513 (2005)
   PUBMED   15843403
  REMARK    GeneRIF: loss causes autosomal recessive restrictive dermopathy
REFERENCE   5  (bases 1 to 2975)
  AUTHORS   Gruber,J., Lampe,T., Osborn,M. and Weber,K.
  TITLE     RNAi of FACE1 protease results in growth inhibition of human cells
            expressing lamin A: implications for Hutchinson-Gilford progeria
            syndrome
  JOURNAL   J Cell Sci 118 (Pt 4), 689-696 (2005)
   PUBMED   15671064
  REMARK    GeneRIF: RNA interference of FACE1 protease results in a halt of
            cell division and accumulation of prelamin A.
REFERENCE   6  (bases 1 to 2975)
  AUTHORS   Navarro,C.L., De Sandre-Giovannoli,A., Bernard,R., Boccaccio,I.,
            Boyer,A., Genevieve,D., Hadj-Rabia,S., Gaudy-Marqueste,C.,
            Smitt,H.S., Vabres,P., Faivre,L., Verloes,A., Van Essen,T.,
            Flori,E., Hennekam,R., Beemer,F.A., Laurent,N., Le Merrer,M.,
            Cau,P. and Levy,N.
  TITLE     Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization
            and identify restrictive dermopathy as a lethal neonatal
            laminopathy
  JOURNAL   Hum Mol Genet 13 (20), 2493-2503 (2004)
   PUBMED   15317753
  REMARK    GeneRIF: A premature termination codon mutation in the gene
            ZMPSTE24 leads to loss of expression of Lamin A as well as abnormal
            patterns of nuclear sizes and shapes.
REFERENCE   7  (bases 1 to 2975)
  AUTHORS   Agarwal,A.K., Fryns,J.P., Auchus,R.J. and Garg,A.
  TITLE     Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral
            dysplasia
  JOURNAL   Hum Mol Genet 12 (16), 1995-2001 (2003)
   PUBMED   12913070
REFERENCE   8  (bases 1 to 2975)
  AUTHORS   Freije,J.M., Blay,P., Pendas,A.M., Cadinanos,J., Crespo,P. and
            Lopez-Otin,C.
  TITLE     Identification and chromosomal location of two human genes encoding
            enzymes potentially involved in proteolytic maturation of
            farnesylated proteins
  JOURNAL   Genomics 58 (3), 270-280 (1999)
   PUBMED   10373325
REFERENCE   9  (bases 1 to 2975)
  AUTHORS   Kumagai,H., Kawamura,Y., Yanagisawa,K. and Komano,H.
  TITLE     Identification of a human cDNA encoding a novel protein
            structurally related to the yeast membrane-associated
            metalloprotease, Ste24p
  JOURNAL   Biochim Biophys Acta 1426 (3), 468-474 (1999)
   PUBMED   10076063
REFERENCE   10 (bases 1 to 2975)
  AUTHORS   Tam,A., Nouvet,F.J., Fujimura-Kamada,K., Slunt,H., Sisodia,S.S. and
            Michaelis,S.
  TITLE     Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal
            proteolysis and COOH-terminal CAAX processing
  JOURNAL   J Cell Biol 142 (3), 635-649 (1998)
   PUBMED   9700155
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA398037.1, AB016068.1,
            AK075007.1 and AA436253.1.
            
            On Nov 23, 2018 this sequence version replaced NM_005857.4.
            
            Summary: This gene encodes a member of the peptidase M48A family.
            The encoded protein is a zinc metalloproteinase involved in the two
            step post-translational proteolytic cleavage of carboxy terminal
            residues of farnesylated prelamin A to form mature lamin A.
            Mutations in this gene have been associated with mandibuloacral
            dysplasia and restrictive dermopathy. [provided by RefSeq, Jul
            2008].
            
            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 :: SRR1803613.150246.1,
                                           SRR1803612.16192.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372759.4/ ENSP00000361845.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-82                DA398037.1         159-240
            83-1551             AB016068.1         225-1693
            1552-2968           AK075007.1         1617-3033
            2969-2975           AA436253.1         6-12                c
FEATURES             Location/Qualifiers
     source          1..2975
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..2975
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /note="zinc metallopeptidase STE24"
                     /db_xref="GeneID:10269"
                     /db_xref="HGNC:HGNC:12877"
                     /db_xref="MIM:606480"
     exon            1..159
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..1464
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /EC_number="3.4.24.84"
                     /note="prenyl protein-specific endoprotease 1; zinc
                     metallopeptidase STE24 homolog; zinc metalloproteinase
                     Ste24 homolog; farnesylated proteins-converting enzyme 1"
                     /codon_start=1
                     /product="CAAX prenyl protease 1 homolog"
                     /protein_id="NP_005848.2"
                     /db_xref="CCDS:CCDS449.1"
                     /db_xref="GeneID:10269"
                     /db_xref="HGNC:HGNC:12877"
                     /db_xref="MIM:606480"
                     /translation="MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRI
                     YKTTTHVPPELGQIMDSETFEKSRLYQLDKSTFSFWSGLYSETEGTLILLFGGIPYLW
                     RLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTL
                     GFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADY
                     IAPLFDKFTPLPEGKLKEEIEVMAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKR
                     IVLFDTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNKKQGCKNEEVLAVLG
                     HELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIF
                     QFIFSPYNEVLSFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDW
                     LFSMWHYSHPPLLERLQALKTMKQH"
     exon            160..306
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /inference="alignment:Splign:2.1.0"
     exon            307..393
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /inference="alignment:Splign:2.1.0"
     exon            394..510
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /inference="alignment:Splign:2.1.0"
     exon            511..663
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /inference="alignment:Splign:2.1.0"
     exon            664..805
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /inference="alignment:Splign:2.1.0"
     exon            806..990
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1095
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1239
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /inference="alignment:Splign:2.1.0"
     exon            1240..2975
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2786..2791
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /note="hexamer: AATAAA"
     polyA_site      2803
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
     regulatory      2951..2956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /note="hexamer: ATTAAA"
     polyA_site      2975
                     /gene="ZMPSTE24"
                     /gene_synonym="FACE-1; FACE1; HGPS; PRO1; RSDM1; STE24;
                     Ste24p"
                     /note="major polyA site"
ORIGIN      
        1 ggtgcacgct gaaggagccg gcggaaccgg gtggccatgg ggatgtgggc atcgctggac
       61 gctttgtggg agatgccggc cgagaagcgt atcttcgggg ccgtgctgct cttttcctgg
      121 acagtgtatc tttgggagac cttcctagca cagcggcaga gaaggatata taaaacaaca
      181 actcatgtac caccggagtt aggacagatc atggattctg aaacatttga gaaatctcga
      241 ctctatcaac tggataaaag cactttcagc ttctggtcag gactctattc agagactgaa
      301 ggcactctta ttcttctctt tggaggaata ccttatctct ggagactttc tggacggttc
      361 tgtggttatg ctggctttgg accagaatat gagatcactc agtccctggt gtttctgctg
      421 ttggctacac ttttcagtgc attgactggt ttgccatgga gtctttataa tacttttgtg
      481 atagaagaaa aacatggctt caatcaacag actttggggt tcttcatgaa agatgcaatc
      541 aagaaatttg ttgtgactca gtgtattttg ttgcctgtgt cttcacttct actttacatt
      601 attaaaattg ggggtgacta tttttttatt tatgcctggc tgttcacatt agttgtgtct
      661 ctggttcttg tcacaatcta tgctgattat attgcccctt tatttgacaa attcacacct
      721 ctgcctgagg gaaagcttaa agaagaaatt gaagtaatgg caaagagtat tgactttcct
      781 ttgacgaagg tgtatgttgt ggaaggatct aaacgctctt cccacagcaa tgcttatttt
      841 tatggcttct tcaagaacaa gcgaatagtt ttgtttgaca ctctactaga agagtactct
      901 gtactaaaca aagacatcca ggaggattct ggcatggaac cccgcaatga ggaagaaggg
      961 aacagtgaag aaataaaagc taaagttaaa aataagaaac aaggatgtaa aaatgaggag
     1021 gtactcgctg tactaggcca tgaactgggg cactggaagt tgggacatac agtcaaaaat
     1081 atcattatta gccagatgaa ttctttcctg tgtttttttt tatttgctgt attaattggt
     1141 cgaaaggagc tttttgctgc atttggtttt tatgatagcc aacccactct tattggacta
     1201 ttgatcatct tccagtttat tttttcacct tacaatgagg ttctttcttt ttgcctaaca
     1261 gtcctaagcc gcagatttga gtttcaagct gatgcatttg ccaagaaact tgggaaggct
     1321 aaagacttat attctgcttt aatcaaactt aacaaagata acttgggatt ccctgtttct
     1381 gactggttgt tctcaatgtg gcattattct catcctccac tgctagagag acttcaagct
     1441 ttgaaaacta tgaagcaaca ctgagatgtc caggatctgt gactgaagac atttctgatt
     1501 atttctgtcc tggcagcatg ttccagctct tgatgttttt aaactttttt ttagaagaaa
     1561 aattaagtac agaaaagccc agatttaaat acatttaata tgtcatttta aaaatgattt
     1621 taataattca tttcttaaaa cactgaatga attttgaagc ttaatgtttt taaaggcata
     1681 gttttatctt tgacatctaa tttaccatca agttgtaaaa ttatttggaa aaatacagaa
     1741 ctcgttttat ttgtatactt atatggaatc tgcatgtgag gtgtttgagg gcatatgttt
     1801 gaaagaggga gcatcaccac aggaatcctt tctgtgaggt ggaaacagtg gtcctgaatc
     1861 attgtgctca cacctaactt gaaatctggt cttactttca tgctgttatg atttcacctg
     1921 gtgaatcagt gttttaaata agaaaggtaa tagttggtaa ggccaatgtt atttaaatga
     1981 aagtagttag aaaaatgctc tcctattcta ccaaattttt aatttctttc ttccctttct
     2041 tgctacacag tgatcaagag tttctcatag tgctttgaag ttagaaatta tgtataggat
     2101 attttaaatc attgagtttt gtggggtttt tttgtttgtt tgtttctttt gttttttgga
     2161 aaatccgtgt ctttatcttt ttttcccacg tggtagatat gatcccattg gaggtaaatt
     2221 gtagcttctt ctcattcatg cagtaaataa tacatccttt cactcagcag agatggccat
     2281 attaaacacg ttttgctatg ttaaaagtgg cagaacagga aagacgaatt aaaaataaca
     2341 ttttttaagc gacataagga tgaaatactg atgaatctct gtgacattac agggaaaaaa
     2401 atatagtttt ctatctcttt caagggcaga agagttttca tttttatttt tgtaatttta
     2461 tctgtaagtc ataaatatta cttaatcagg cctgattcta cttttgaaaa ttacagttct
     2521 tgaaatgcag ataatgttta ctttgaaaac aaatgtcatg aatgatttcc agtttttaaa
     2581 gctatatgtt tcactgcttc atatctctgt ccactttctg aatgagaact tattttgtgc
     2641 ctagagctct cactcactga taatgcttat taccttctgg gcatttattc caaagtggga
     2701 tcaactgtac gcctttggta tctgaccata aagtcttttg ctccgctgac atttgggtga
     2761 tgtcttcaca tggaaatata ataaaaataa aaatctagtt taatactgca ttatttattt
     2821 tcctaaggct aaagaggagc agtcctatgc ttttattcag catcctttat ctgtgacttc
     2881 atgctctgat aactgccttt ccttccttct gtgcctttga atacaaattt cagttctgca
     2941 aaagtgaaac attaaacatt gccaacgcaa atgta
//
