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    PSMG4 proteasome assembly chaperone 4 [ Homo sapiens (human) ]

    Gene ID: 389362, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PSMG4provided by HGNC
    Official Full Name
    proteasome assembly chaperone 4provided by HGNC
    Primary source
    HGNC:HGNC:21108
    See related
    Ensembl:ENSG00000180822 MIM:617550; AllianceGenome:HGNC:21108
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAC4; C6orf86; bA506K6.2
    Summary
    Predicted to be involved in proteasome assembly. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.1), prostate (RPKM 1.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PSMG4 in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3254404..3268049)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3123453..3136452)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3259181..3268283)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3226870-3227530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3227531-3228189 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3229485-3230041 Neighboring gene uncharacterized LOC100422781 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3232034-3232816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3238669-3239168 Neighboring gene tubulin beta 2B class IIb Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3247329-3247894 Neighboring gene Sharpr-MPRA regulatory region 12113 Neighboring gene Sharpr-MPRA regulatory region 12515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3266017-3266518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3266519-3267018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23888 Neighboring gene Sharpr-MPRA regulatory region 5686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3282752-3283679 Neighboring gene solute carrier family 22 member 23 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3287161-3287690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3296939-3297439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3310226-3311075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3322296-3322796 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:3324264-3325463 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:3341422-3342145 Neighboring gene VISTA enhancer hs1391 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3356377-3357267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3364498-3364998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3364999-3365499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3370733-3371253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23890 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:3410001-3410221 Neighboring gene HNF4 motif-containing MPRA enhancer 213 Neighboring gene uncharacterized LOC105374890 Neighboring gene Sharpr-MPRA regulatory region 2334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3413621-3414120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3415185-3415686 Neighboring gene Sharpr-MPRA regulatory region 10234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3427759-3428672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23892 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3446415-3446962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3446963-3447509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16854 Neighboring gene uncharacterized LOC643327

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic modifiers of multiple sclerosis progression, severity and onset. Sadovnick AD, et al. Clin Immunol, 2017 Jul. PMID 28501589
    2. Crystal structure of human proteasome assembly chaperone PAC4 involved in proteasome formation. Kurimoto E, et al. Protein Sci, 2017 May. PMID 28263418, Free PMC Article
    3. Genome-Wide CRISPR-Cas9 Screen Reveals Selective Vulnerability of ATRX-Mutant Cancers to WEE1 Inhibition. Liang J, et al. Cancer Res, 2020 Feb 1. PMID 31551363
    4. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article
    5. 20S proteasome assembly is orchestrated by two distinct pairs of chaperones in yeast and in mammals. Le Tallec B, et al. Mol Cell, 2007 Aug 17. PMID 17707236

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
      Title: Genetic modifiers of multiple sclerosis progression, severity and onset.
    2. 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.
      Title: Crystal structure of human proteasome assembly chaperone PAC4 involved in proteasome formation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein-containing complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in proteasome assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    proteasome assembly chaperone 4
    Names
    PAC-4
    hPAC4
    proteasome (prosome, macropain) assembly chaperone 4

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001128591.2 → NP_001122063.1  proteasome assembly chaperone 4 isoform b

      See identical proteins and their annotated locations for NP_001122063.1

      Status: VALIDATED

      Description
      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.
      Source sequence(s)
      AA948231, AL445309, BM846556, CN429483
      Consensus CDS
      CCDS47361.1
      UniProtKB/Swiss-Prot
      C9J2F8, F8WBZ2, Q5JS53, Q5JS54, Q5JS56
      Related
      ENSP00000413353.3, ENST00000438998.7
      Conserved Domains (1) summary
      pfam16093
      Location:30 → 97
      PAC4; Proteasome assembly chaperone 4

    2. NM_001128592.2 → NP_001122064.1  proteasome assembly chaperone 4 isoform a

      See identical proteins and their annotated locations for NP_001122064.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AA948231, AL445309, BM738331, BM846556
      Consensus CDS
      CCDS47360.1
      UniProtKB/Swiss-Prot
      Q5JS54
      Related
      ENSP00000392353.2, ENST00000419065.6
      Conserved Domains (1) summary
      pfam16093
      Location:30 → 136
      PAC4; Proteasome assembly chaperone 4

    3. NM_001135750.2 → NP_001129222.1  proteasome assembly chaperone 4 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks 3' two exons but has an alternate 3' sequence, compared to variant 1, resulting in an isoform (c) that is shorter and has a different C-terminus than isoform a.
      Source sequence(s)
      AL445309, BM846556, DA093618
      Consensus CDS
      CCDS47362.1
      UniProtKB/Swiss-Prot
      Q5JS54
      Related
      ENSP00000418241.2, ENST00000473000.2
      Conserved Domains (1) summary
      pfam16093
      Location:30 → 85
      PAC4; Proteasome assembly chaperone 4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      3254404..3268049
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514591.4 → XP_011512893.1  proteasome assembly chaperone 4 isoform X1

      See identical proteins and their annotated locations for XP_011512893.1

      Conserved Domains (1) summary
      pfam16093
      Location:23 → 97
      PAC4; Proteasome assembly chaperone 4

    2. XM_047418768.1 → XP_047274724.1  proteasome assembly chaperone 4 isoform X1

    3. XM_011514595.3 → XP_011512897.1  proteasome assembly chaperone 4 isoform X3

    4. XM_011514594.4 → XP_011512896.1  proteasome assembly chaperone 4 isoform X2

      UniProtKB/TrEMBL
      D6RB92
      Related
      ENSP00000424330.1, ENST00000324987.4
      Conserved Domains (1) summary
      pfam16093
      Location:30 → 85
      PAC4; Proteasome assembly chaperone 4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      3123453..3136452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355411.1 → XP_054211386.1  proteasome assembly chaperone 4 isoform X1

    2. XM_054355412.1 → XP_054211387.1  proteasome assembly chaperone 4 isoform X2

      UniProtKB/TrEMBL
      D6RB92
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JS54.2 GenPept UniProtKB/Swiss-Prot:Q5JS54

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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