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

Gene ID: 389362, updated on 27-Nov-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; Pba4; 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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 1.1), prostate (RPKM 1.0) and 25 other tissues See more
Orthologs
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3254404..3268049)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3123453..3136452)
RS_2024_09 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)

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
proteasome (prosome, macropain) assembly chaperone 4
proteasome chaperone homolog 4

NCBI Reference Sequences (RefSeq)

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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_2024_08

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

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