LOCUS       NM_001128591             785 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens proteasome assembly chaperone 4 (PSMG4), transcript
            variant 2, mRNA.
ACCESSION   NM_001128591
VERSION     NM_001128591.2
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 785)
  AUTHORS   Sadovnick,A.D., Traboulsee,A.L., Zhao,Y., Bernales,C.Q.,
            Encarnacion,M., Ross,J.P., Yee,I.M., Criscuoli,M.G. and
            Vilarino-Guell,C.
  TITLE     Genetic modifiers of multiple sclerosis progression, severity and
            onset
  JOURNAL   Clin Immunol 180, 100-105 (2017)
   PUBMED   28501589
  REMARK    GeneRIF: PSMG4 and NLRP5 appear of particular interest as they were
            found to be associated with more than one clinical phenotype and
            are implicated in biological processes considered relevant to the
            pathophysiology of MS. Also, PSMG4 p.W99R and NLRP5 p.R761L were
            found to correlate with an earlier age of MS clinical onset. Our
            data suggests PSMG4 and NLPR5 as potential targets for the
            development of modifying therapies for MS.
REFERENCE   2  (bases 1 to 785)
  AUTHORS   Kurimoto,E., Satoh,T., Ito,Y., Ishihara,E., Okamoto,K.,
            Yagi-Utsumi,M., Tanaka,K. and Kato,K.
  TITLE     Crystal structure of human proteasome assembly chaperone PAC4
            involved in proteasome formation
  JOURNAL   Protein Sci 26 (5), 1080-1085 (2017)
   PUBMED   28263418
  REMARK    GeneRIF: a crystal structure of human PAC4 at 1.90-A resolution.
            Crystallographic data identify a hydrophobic surface that is
            surrounded by charged residues. The hydrophobic surface is
            complementary to that of its binding partner, PAC3.
REFERENCE   3  (bases 1 to 785)
  AUTHORS   Le Tallec,B., Barrault,M.B., Courbeyrette,R., Guerois,R.,
            Marsolier-Kergoat,M.C. and Peyroche,A.
  TITLE     20S proteasome assembly is orchestrated by two distinct pairs of
            chaperones in yeast and in mammals
  JOURNAL   Mol Cell 27 (4), 660-674 (2007)
   PUBMED   17707236
REFERENCE   4  (bases 1 to 785)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM846556.1, CN429483.1, AA948231.1 and AL445309.13.
            
            On Jun 2, 2019 this sequence version replaced NM_001128591.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the mid-coding region, compared to variant 1, resulting in
            an isoform (b) that is shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.258467.1,
                                           SRR1163657.450652.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000438998.7/ ENSP00000413353.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                BM846556.1         20-45
            27-513              CN429483.1         14-500
            514-743             AA948231.1         60-289              c
            744-775             AL445309.13        55780-55811
            776-785             AA948231.1         18-27               c
FEATURES             Location/Qualifiers
     source          1..785
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.2"
     gene            1..785
                     /gene="PSMG4"
                     /gene_synonym="bA506K6.2; C6orf86; PAC4; Pba4"
                     /note="proteasome assembly chaperone 4"
                     /db_xref="GeneID:389362"
                     /db_xref="HGNC:HGNC:21108"
                     /db_xref="MIM:617550"
     exon            1..250
                     /gene="PSMG4"
                     /gene_synonym="bA506K6.2; C6orf86; PAC4; Pba4"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..448
                     /gene="PSMG4"
                     /gene_synonym="bA506K6.2; C6orf86; PAC4; Pba4"
                     /note="isoform b is encoded by transcript variant 2;
                     proteasome (prosome, macropain) assembly chaperone 4;
                     proteasome chaperone homolog 4"
                     /codon_start=1
                     /product="proteasome assembly chaperone 4 isoform b"
                     /protein_id="NP_001122063.1"
                     /db_xref="CCDS:CCDS47361.1"
                     /db_xref="GeneID:389362"
                     /db_xref="HGNC:HGNC:21108"
                     /db_xref="MIM:617550"
                     /translation="MEGLVVAAGGDVSLHNFSARLWEQLVHFHVMRLTDSLFLWVGAT
                     PHLRNLAVAMCSRYDSIPVSTSLLGDTSDTTSTGLAQRLARKTNKQVFVSYNLQNTDS
                     NFALLVENRIKEEMEAFPEKF"
     exon            251..326
                     /gene="PSMG4"
                     /gene_synonym="bA506K6.2; C6orf86; PAC4; Pba4"
                     /inference="alignment:Splign:2.1.0"
     exon            327..785
                     /gene="PSMG4"
                     /gene_synonym="bA506K6.2; C6orf86; PAC4; Pba4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      498..503
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSMG4"
                     /gene_synonym="bA506K6.2; C6orf86; PAC4; Pba4"
                     /note="hexamer: AATAAA"
     polyA_site      517
                     /gene="PSMG4"
                     /gene_synonym="bA506K6.2; C6orf86; PAC4; Pba4"
                     /note="major polyA site"
     regulatory      764..769
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSMG4"
                     /gene_synonym="bA506K6.2; C6orf86; PAC4; Pba4"
                     /note="hexamer: ATTAAA"
     polyA_site      785
                     /gene="PSMG4"
                     /gene_synonym="bA506K6.2; C6orf86; PAC4; Pba4"
ORIGIN      
        1 gctccatcgg gtctggcggg gctggcagcg gcgaggaccc gggtctggcg ctgtgggccg
       61 ggagccgtgg ggcggcatgg aggggctggt tgtcgccgcc ggcggggacg tctccctgca
      121 caacttcagc gcgaggctgt gggagcagct ggtccacttc cacgtcatgc ggctgacgga
      181 ctcgctgttc ctgtgggtgg gggccacgcc gcacctgcgc aacctcgccg tggccatgtg
      241 cagccgctac gactccatcc ccgtgtctac ctccctcctt ggagacactt ccgacacgac
      301 ctctactggc cttgcccagc gcctagccag gaagaccaac aaacaggtgt ttgtcagcta
      361 taaccttcag aacacagaca gtaacttcgc attacttgta gaaaacagga tcaaggaaga
      421 gatggaggct ttccccgaaa agttctagct gagtggcaga agtgagaatt tgtaaactta
      481 tgtacaatgt acgtgtaaat aaatggattg aatttcagtt tgtcatcagg ccgcgctccc
      541 gttttgtttt taaggggtta atcttttgag cttccttctc agcagtgtgt gggccaaaag
      601 gctcatactg acccacctgg tgaaggagag gcaaagtggg cagtatatac ttcctcattt
      661 ggctgtgagt gatagaggga tgaaatggga tttttgttgg gattgaagac tgtaatctaa
      721 gagtttcaat cagacatgac tgtgacgtgc atcctcaatt agaattaaag tgatgtataa
      781 atatg
//
