LOCUS       NM_003720               1754 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens proteasome assembly chaperone 1 (PSMG1), transcript
            variant 1, mRNA.
ACCESSION   NM_003720
VERSION     NM_003720.4
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 1754)
  AUTHORS   Viard,J., Loe-Mie,Y., Daudin,R., Khelfaoui,M., Plancon,C.,
            Boland,A., Tejedor,F., Huganir,R.L., Kim,E., Kinoshita,M., Liu,G.,
            Haucke,V., Moncion,T., Yu,E., Hindie,V., Blehaut,H., Mircher,C.,
            Herault,Y., Deleuze,J.F., Rain,J.C., Simonneau,M. and
            Lepagnol-Bestel,A.M.
  TITLE     Chr21 protein-protein interactions: enrichment in proteins involved
            in intellectual disability, autism, and late-onset Alzheimer's
            disease
  JOURNAL   Life Sci Alliance 5 (12), e202101205 (2022)
   PUBMED   35914814
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1754)
  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   3  (bases 1 to 1754)
  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   4  (bases 1 to 1754)
  AUTHORS   Lee,D., Tang,W., Dorsey,T.H. and Ambs,S.
  TITLE     miR-484 is associated with disease recurrence and promotes
            migration in prostate cancer
  JOURNAL   Biosci Rep 40 (5) (2020)
   PUBMED   32338277
  REMARK    GeneRIF: miR-484 is associated with disease recurrence and promotes
            migration in prostate cancer.
REFERENCE   5  (bases 1 to 1754)
  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 1754)
  AUTHORS   Hirano,Y., Hendil,K.B., Yashiroda,H., Iemura,S., Nagane,R.,
            Hioki,Y., Natsume,T., Tanaka,K. and Murata,S.
  TITLE     A heterodimeric complex that promotes the assembly of mammalian 20S
            proteasomes
  JOURNAL   Nature 437 (7063), 1381-1385 (2005)
   PUBMED   16251969
  REMARK    GeneRIF: two chaperones, designated proteasome assembling
            chaperone-1 (PAC1) and PAC2, form a heterodimer and are involved in
            the maturation of mammalian 20S proteasomes
REFERENCE   7  (bases 1 to 1754)
  AUTHORS   Vesa,J., Brown,Y., Greenfield,D. and Korenberg,J.R.
  TITLE     Molecular and cellular characterization of the Down syndrome
            critical region protein 2
  JOURNAL   Biochem Biophys Res Commun 328 (1), 235-242 (2005)
   PUBMED   15670775
  REMARK    GeneRIF: Further, the results of intracellular localization studies
            and membrane fractionation assays indicate that DSCR2 is targeted
            to a cytoplasmic compartment as a soluble form.
REFERENCE   8  (bases 1 to 1754)
  AUTHORS   Possik,P.A., Sommer,C.A., Issa Hori,J., Machado-Santelli,G.M.,
            Jamur,M.C. and Henrique-Silva,F.
  TITLE     DSCR2, a Down syndrome critical region protein, is localized to the
            endoplasmic reticulum of mammalian cells
  JOURNAL   Eur J Histochem 48 (3), 267-272 (2004)
   PUBMED   15590417
  REMARK    GeneRIF: The DSCR2 protein is associated with the endoplasmic
            reticulum; it is not an integral membrane protein and it is
            maintained on the cytoplasmic side of the ER by indirect
            interaction with the ER membrane or with another protein.
REFERENCE   9  (bases 1 to 1754)
  AUTHORS   Vidal-Taboada,J.M., Lu,A., Pique,M., Pons,G., Gil,J. and Oliva,R.
  TITLE     Down syndrome critical region gene 2: expression during mouse
            development and in human cell lines indicates a function related to
            cell proliferation
  JOURNAL   Biochem Biophys Res Commun 272 (1), 156-163 (2000)
   PUBMED   10872820
REFERENCE   10 (bases 1 to 1754)
  AUTHORS   Vidal-Taboada,J.M., Sanz,S., Egeo,A., Scartezzini,P. and Oliva,R.
  TITLE     Identification and characterization of a new gene from human
            chromosome 21 between markers D21S343 and D21S268 encoding a
            leucine-rich protein
  JOURNAL   Biochem Biophys Res Commun 250 (3), 547-554 (1998)
   PUBMED   9784380
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BE779375.1, BR000236.1, AA731200.1, AW594615.1 and AF129408.4.
            
            On May 17, 2019 this sequence version replaced NM_003720.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: SRR1660809.121236.1,
                                           SRR1803613.74855.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331573.8/ ENSP00000329915.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-66                BE779375.1         64-129
            67-933              BR000236.1         1-867
            934-1065            AA731200.1         26-157              c
            1066-1077           AW594615.1         1-12                c
            1078-1754           AF129408.4         12044-12720         c
FEATURES             Location/Qualifiers
     source          1..1754
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.2"
     gene            1..1754
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /note="proteasome assembly chaperone 1"
                     /db_xref="GeneID:8624"
                     /db_xref="HGNC:HGNC:3043"
                     /db_xref="MIM:605296"
     exon            1..200
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..933
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /note="isoform a is encoded by transcript variant 1;
                     chromosome 21 leucine-rich protein; Down syndrome critical
                     region gene 2; leucine rich protein C21-LRP; proteasome
                     (prosome, macropain) assembly chaperone 1; proteasome
                     assembling chaperone 1; Down syndrome critical region
                     protein 2; proteasome chaperone homolog 1"
                     /codon_start=1
                     /product="proteasome assembly chaperone 1 isoform a"
                     /protein_id="NP_003711.1"
                     /db_xref="CCDS:CCDS13660.1"
                     /db_xref="GeneID:8624"
                     /db_xref="HGNC:HGNC:3043"
                     /db_xref="MIM:605296"
                     /translation="MAATFFGEVVKAPCRAGTEDEEEEEEGRRETPEDREVRLQLARK
                     REVRLLRRQTKTSLEVSLLEKYPCSKFIIAIGNNAVAFLSSFVMNSGVWEEVGCAKLW
                     NEWCRTTDTTHLSSTEAFCVFYHLKSNPSVFLCQCSCYVAEDQQYQWLEKVFGSCPRK
                     NMQITILTCRHVTDYKTSESTGSLPSPFLRALKTQNFKDSACCPLLEQPNIVHDLPAA
                     VLSYCQVWKIPAILYLCYTDVMKLDLITVEAFKPILSTRSLKGLVKNIPQSTEILKKL
                     MTTNEIQSNIYT"
     exon            201..307
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /inference="alignment:Splign:2.1.0"
     exon            308..459
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /inference="alignment:Splign:2.1.0"
     exon            460..522
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /inference="alignment:Splign:2.1.0"
     exon            523..721
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /inference="alignment:Splign:2.1.0"
     exon            722..858
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /inference="alignment:Splign:2.1.0"
     exon            859..1754
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1045..1050
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /note="hexamer: AATAAA"
     polyA_site      1061
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /note="major polyA site"
     regulatory      1552..1557
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
                     /note="hexamer: ATTATA"
     polyA_site      1575
                     /gene="PSMG1"
                     /gene_synonym="C21LRP; DSCR2; LRPC21; PAC-1; PAC1; Pba1"
ORIGIN      
        1 gtctcgcgca agccggcgtg cggtcccgcg gcgctgcagt tgtgtccagc cggtcacggg
       61 gcggctatgg cggccacgtt cttcggagag gtggtgaagg cgccgtgccg agctgggact
      121 gaggacgaag aggaggagga ggaggggcgg agggagacgc ccgaggacag ggaggtgcgt
      181 ctgcagctgg cgcggaagag ggaagtgcgg ctccttcgaa gacaaacaaa aacatctttg
      241 gaagtttctt tgctagaaaa atatccgtgc tccaagttta taattgctat aggaaataat
      301 gcagtagcat ttctgtcatc atttgttatg aattcaggag tctgggagga agttggttgt
      361 gctaaactct ggaatgaatg gtgtagaaca acagacacta cacatctgtc ctccacagag
      421 gctttttgtg tgttttatca tctaaaatcc aatccctcgg tttttctctg tcagtgcagt
      481 tgctatgttg cagaagatca acagtatcag tggctggaaa aggtttttgg ctcttgtcca
      541 aggaagaaca tgcagataac tattctcaca tgtcgacatg ttaccgatta taaaacctca
      601 gaatccaccg gcagccttcc ttctcctttc ctgagagccc taaaaacaca gaatttcaaa
      661 gactcggcgt gttgtccatt gctagaacaa ccgaatatag tacacgacct tcctgcagca
      721 gttctaagct actgtcaagt atggaaaatc ccagcaattc tgtacttgtg ttatactgat
      781 gtgatgaaat tagacctaat cacagtggaa gcttttaagc ctatactttc taccagaagc
      841 ttgaagggtt tggttaagaa tattccccaa agcactgaga tactaaagaa attgatgaca
      901 acaaatgaga ttcagagtaa catttataca tgatcttaaa cattgttttg tagtgtatat
      961 tacttgtcca ttcctttaag gggagcagcc tgcactcttt tgtagattac ttttggggga
     1021 tatattttga gaatgatgaa acggaataaa attgtaaaaa attaattgta gttttaattc
     1081 cttatttatg gtggtattat tcacaaccaa aataagccaa gcattttcct tttatccact
     1141 aggtgggagt attgttgtat ttgaatattt taaggtacta tagttaaatt tttatcttat
     1201 ttatttattt atttattttt tgaggctggg tcttgctctg ttgcccaggc tgaagtgcag
     1261 tgtgctatca tggttcactg catcctcgac ctcctgggct caagcatttc ccccgcctcg
     1321 gcctcccaaa atgctgggat tacaggtgtg agccactgtg cccaacttta gttaaatttt
     1381 tcaaagctac agatatcagc agatggtatt catgtggcaa agtgtagtta attaggtgta
     1441 actattcatt gacctgttgg tgattcttaa tatgtggaaa gtttctggat attttaggag
     1501 tcctgcagtt ttttttatct tgtgggtaaa aattgatgac aaagtaacaa aattatatat
     1561 ttactaaaaa tgaaacagaa atgtgtatgt cctcactttt tagtaatatc tgacagatag
     1621 cctcttcacc cagactttcc cagggctctc tttcaaggct ggctctgcgc gtgtcagcag
     1681 ttctcttaca gtcatgtgtt atcattagga gtgtgaatgg aatcatgaac ccggagtagc
     1741 cacacaactt caca
//
