LOCUS       NM_015932               1338 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens proteasome maturation protein (POMP), mRNA.
ACCESSION   NM_015932
VERSION     NM_015932.6
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 1338)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 1338)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1338)
  AUTHORS   Takeichi,T. and Akiyama,M.
  TITLE     KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of
            an Autoinflammatory Keratinization Disease
  JOURNAL   Front Immunol 11, 641 (2020)
   PUBMED   32425927
  REMARK    GeneRIF: KLICK Syndrome Linked to a POMP Mutation Has Features
            Suggestive of an Autoinflammatory Keratinization Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1338)
  AUTHORS   Waku,T., Nakamura,N., Koji,M., Watanabe,H., Katoh,H., Tatsumi,C.,
            Tamura,N., Hatanaka,A., Hirose,S., Katayama,H., Tani,M., Kubo,Y.,
            Hamazaki,J., Hamakubo,T., Watanabe,A., Murata,S. and Kobayashi,A.
  TITLE     NRF3-POMP-20S Proteasome Assembly Axis Promotes Cancer Development
            via Ubiquitin-Independent Proteolysis of p53 and Retinoblastoma
            Protein
  JOURNAL   Mol Cell Biol 40 (10), e00597-19 (2020)
   PUBMED   32123008
  REMARK    GeneRIF: NRF3-POMP-20S Proteasome Assembly Axis Promotes Cancer
            Development via Ubiquitin-Independent Proteolysis of p53 and
            Retinoblastoma Protein.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1338)
  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   6  (bases 1 to 1338)
  AUTHORS   Jayarapu,K. and Griffin,T.A.
  TITLE     Protein-protein interactions among human 20S proteasome subunits
            and proteassemblin
  JOURNAL   Biochem Biophys Res Commun 314 (2), 523-528 (2004)
   PUBMED   14733938
REFERENCE   7  (bases 1 to 1338)
  AUTHORS   Tian,S., Liu,W., Wu,Y., Rafi,H., Segal,A.S. and Desir,G.V.
  TITLE     Regulation of the voltage-gated K+ channel KCNA10 by KCNA4B, a
            novel beta-subunit
  JOURNAL   Am J Physiol Renal Physiol 283 (1), F142-F149 (2002)
   PUBMED   12060596
REFERENCE   8  (bases 1 to 1338)
  AUTHORS   Burri,L., Hockendorff,J., Boehm,U., Klamp,T., Dohmen,R.J. and
            Levy,F.
  TITLE     Identification and characterization of a mammalian protein
            interacting with 20S proteasome precursors
  JOURNAL   Proc Natl Acad Sci U S A 97 (19), 10348-10353 (2000)
   PUBMED   10973495
REFERENCE   9  (bases 1 to 1338)
  AUTHORS   Witt,E., Zantopf,D., Schmidt,M., Kraft,R., Kloetzel,P.M. and
            Kruger,E.
  TITLE     Characterisation of the newly identified human Ump1 homologue POMP
            and analysis of LMP7(beta 5i) incorporation into 20 S proteasomes
  JOURNAL   J Mol Biol 301 (1), 1-9 (2000)
   PUBMED   10926487
REFERENCE   10 (bases 1 to 1338)
  AUTHORS   Griffin,T.A., Slack,J.P., McCluskey,T.S., Monaco,J.J. and
            Colbert,R.A.
  TITLE     Identification of proteassemblin, a mammalian homologue of the
            yeast protein, Ump1p, that is required for normal proteasome
            assembly
  JOURNAL   Mol Cell Biol Res Commun 3 (4), 212-217 (2000)
   PUBMED   10891394
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from GU045555.1, BC014334.1,
            CD369437.1 and AL359454.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_015932.5.
            
            Summary: The protein encoded by this gene is a molecular chaperone
            that binds 20S preproteasome components and is essential for 20S
            proteasome formation. The 20S proteasome is the proteolytically
            active component of the 26S proteasome complex. The encoded protein
            is degraded before the maturation of the 20S proteasome is
            complete. A variant in the 5' UTR of this gene has been associated
            with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug
            2010].
            
            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 :: SRR3476690.185353.1,
                                           SRR1660803.110546.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380842.5/ ENSP00000370222.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-578               GU045555.1         127-704
            579-1110            BC014334.1         599-1130
            1111-1336           CD369437.1         16-241              c
            1337-1338           AL359454.7         53831-53832
FEATURES             Location/Qualifiers
     source          1..1338
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.3"
     gene            1..1338
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /note="proteasome maturation protein"
                     /db_xref="GeneID:51371"
                     /db_xref="HGNC:HGNC:20330"
                     /db_xref="MIM:613386"
     exon            1..58
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..481
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /note="2510048O06Rik; proteassemblin; voltage-gated
                     potassium channel beta subunit 4.1; hUMP1; protein UMP1
                     homolog; voltage-gated K channel beta subunit 4.1"
                     /codon_start=1
                     /product="proteasome maturation protein"
                     /protein_id="NP_057016.1"
                     /db_xref="CCDS:CCDS9331.1"
                     /db_xref="GeneID:51371"
                     /db_xref="HGNC:HGNC:20330"
                     /db_xref="MIM:613386"
                     /translation="MNARGLGSELKDSIPVTELSASGPFESHDLLRKGFSCVKNELLP
                     SHPLELSEKNFQLNQDKMNFSTLRNIQGLFAPLKLQMEFKAVQQVQRLPFLSSSNLSL
                     DVLRGNDETIGFEDILNDPSQSEVMGEPHLMVEYKLGLL"
     exon            59..156
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            157..217
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            218..319
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            320..413
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            414..1338
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      558..563
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /note="hexamer: ATTAAA"
     polyA_site      578
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /note="major polyA site"
     regulatory      694..699
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /note="hexamer: ATTAAA"
     polyA_site      723
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
     regulatory      857..862
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /note="hexamer: AATAAA"
     polyA_site      875
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
     regulatory      1220..1225
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /note="hexamer: TATAAA"
     polyA_site      1247
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
     regulatory      1269..1274
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /note="hexamer: ATTAAA"
     polyA_site      1292
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
     regulatory      1317..1322
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
                     /note="hexamer: GATAAA"
     polyA_site      1338
                     /gene="POMP"
                     /gene_synonym="C13orf12; HSPC014; PNAS-110; PRAAS2; UMP1"
ORIGIN      
        1 ggcggggtcg actgacggta acggggcaga gaggctgttc gcagagctgc ggaagatgaa
       61 tgccagagga cttggatctg agctaaagga cagtattcca gttactgaac tttcagcaag
      121 tggacctttt gaaagtcatg atcttcttcg gaaaggtttt tcttgtgtga aaaatgaact
      181 tttgcctagt catccccttg aattatcaga aaaaaatttc cagctcaacc aagataaaat
      241 gaatttttcc acactgagaa acattcaggg tctatttgct ccgctaaaat tacagatgga
      301 attcaaggca gtgcagcagg ttcagcgtct tccatttctt tcaagctcaa atctttcact
      361 ggatgttttg aggggtaatg atgagactat tggatttgag gatattctta atgatccatc
      421 acaaagcgaa gtcatgggag agccacactt gatggtggaa tataaacttg gtttactgta
      481 atagtgtgct gttcatggaa accgagggct gcatcttgtt tatagtcatc tttgtactgt
      541 aatttgatgt acacaacatt aaaagtactg acacctgaga atttctgctc aagtagtatc
      601 agtgatcatt taaaatttgg aggggtcttt ggtttacagc catgtgacaa ttaaaagcac
      661 taaagggaga tcatgttaaa gctcttaatt tatattaaaa cagtagcctt tgtctttaaa
      721 aaagttgttg ctcatgaata ttataaaatg atctacaggt ttcaattcaa cctgtttcta
      781 ggtttttttg taaatttagt tttgattaag cattataagc atttgagtct ataaacttta
      841 tagtagcatc tttcagaata aacattttta attgatttca gtggcaactc tcaaattgat
      901 tacaatatga gatatatcag tgtcgtccat taacactcat aagaataata tttactgtgt
      961 cagtgctatt ttaggattat agttattgtt tgattatttc aggttgaaaa gtagaagttc
     1021 caaggttttg attttggtct ggtctttaag tgaaaaatta aagcaaccag tagatgtagg
     1081 ttaaactttt acttcataga cttaatatgt aattaatata ttgccaagca acactgttaa
     1141 agaaaagtaa aactcatttt ttcttgttct taatttatat attacaagat actgtaaggt
     1201 attctttatg aagttgatat ataaaaattt acatttttag aacattagtg aatggatcat
     1261 cttttacaat taaaagtata ttttgattat cagtttctta ggaacatctt tgattagata
     1321 aattactgat ttgaaaca
//
