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    PSMG1 proteasome assembly chaperone 1 [ Homo sapiens (human) ]

    Gene ID: 8624, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PSMG1provided by HGNC
    Official Full Name
    proteasome assembly chaperone 1provided by HGNC
    Primary source
    HGNC:HGNC:3043
    See related
    Ensembl:ENSG00000183527 MIM:605296; AllianceGenome:HGNC:3043
    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
    PAC1; Pba1; DSCR2; PAC-1; C21LRP; LRPC21
    Summary
    Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and nucleoplasm. Part of protein folding chaperone complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 57.7), thyroid (RPKM 14.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PSMG1 in Genome Data Viewer
    Location:
    21q22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39174769..39183514, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37559338..37568084, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40546695..40555440, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:40509167-40510074 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:40529419-40530214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13319 Neighboring gene PCBP2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18466 Neighboring gene bromodomain and WD repeat domain containing 1 Neighboring gene TIMM9 pseudogene 2 Neighboring gene methyltransferase like 21A pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of a new gene from human chromosome 21 between markers D21S343 and D21S268 encoding a leucine-rich protein. Vidal-Taboada JM, et al. Biochem Biophys Res Commun, 1998 Sep 29. PMID 9784380
    2. Pseudomonas infection in children with early-onset Crohn's disease: an association with a mutation close to PSMG1. Wagner J, et al. Inflamm Bowel Dis, 2013 Mar-Apr. PMID 22593026
    3. Down syndrome critical region gene 2: expression during mouse development and in human cell lines indicates a function related to cell proliferation. Vidal-Taboada JM, et al. Biochem Biophys Res Commun, 2000 May 27. PMID 10872820
    4. DSCR2, a Down syndrome critical region protein, is localized to the endoplasmic reticulum of mammalian cells. Possik PA, et al. Eur J Histochem, 2004 Jul-Sep. PMID 15590417
    5. Molecular and cellular characterization of the Down syndrome critical region protein 2. Vesa J, et al. Biochem Biophys Res Commun, 2005 Mar 4. PMID 15670775

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. miR-484 is associated with disease recurrence and promotes migration in prostate cancer.
      Title: miR-484 is associated with disease recurrence and promotes migration in prostate cancer.
    2. RNA-seq evidence of biallelic expression of PSMG1 and 10 neighboring genes in at least one primary human tissue tested indicates that the expression of PSMG1 is uncoupled from the control of the maternally inherited 5mCpG imprints at the WRB differentially methylated region (DMR) in disomic controls or trisomy (Down syndrome) individuals.
      Title: Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
    3. PSMG1 mutation is associated with Crohn's disease.
      Title: Pseudomonas infection in children with early-onset Crohn's disease: an association with a mutation close to PSMG1.
    4. Data show that an additive gene-gene interaction involving TLR4, PSMG1, TNFRSF6B and IRGM was identified with CD.
      Title: Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort.
    5. PSMG1 gene expression is increased in classic variant of papillary thyroid carcinoma.
      Title: Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma.
    6. DSCR2 was found to interact with PPARbeta and to inhibit it.
      Title: Down syndrome critical region 2 protein inhibits the transcriptional activity of peroxisome proliferator-activated receptor beta in HEK293 cells.
    7. Genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.
    8. Further, the results of intracellular localization studies and membrane fractionation assays indicate that DSCR2 is targeted to a cytoplasmic compartment as a soluble form.
      Title: Molecular and cellular characterization of the Down syndrome critical region protein 2.
    9. 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.
      Title: DSCR2, a Down syndrome critical region protein, is localized to the endoplasmic reticulum of mammalian cells.
    10. two chaperones, designated proteasome assembling chaperone-1 (PAC1) and PAC2, form a heterodimer and are involved in the maturation of mammalian 20S proteasomes
      Title: A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
    EBI GWAS Catalog
    Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    EBI GWAS Catalog
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    EBI GWAS Catalog

    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 molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables molecular adaptor activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables proteasome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cerebellar granule cell precursor proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chaperone-mediated protein complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chaperone-mediated protein complex assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in proteasome core complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 
    part_of protein folding chaperone complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    proteasome assembly chaperone 1
    Names
    Down syndrome critical region gene 2
    Down syndrome critical region protein 2
    chromosome 21 leucine-rich protein
    leucine rich protein C21-LRP
    proteasome (prosome, macropain) assembly chaperone 1
    proteasome assembling chaperone 1
    proteasome chaperone homolog 1

    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_001261824.1 → NP_001248753.1  proteasome assembly chaperone 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AA731200, AW594615, BE779375, BM462074
      UniProtKB/TrEMBL
      B2RD51
      Conserved Domains (1) summary
      pfam16094
      Location:2 → 282
      PAC1; Proteasome assembly chaperone 4

    2. NM_001320795.1 → NP_001307724.1  proteasome assembly chaperone 1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' coding region, which results in use of a downstream start AUG compared to variant 1. It encodes isoform d, which has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      BE779375, BQ008489, BU543452
      Conserved Domains (1) summary
      pfam16094
      Location:1 → 200
      PAC1; Proteasome assembly chaperone 4

    3. NM_003720.4 → NP_003711.1  proteasome assembly chaperone 1 isoform a

      See identical proteins and their annotated locations for NP_003711.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AA731200, AF129408, AW594615, BE779375, BR000236
      Consensus CDS
      CCDS13660.1
      UniProtKB/Swiss-Prot
      B5BUN2, O95456, Q6FHA3, Q6FHD3, Q6S713
      UniProtKB/TrEMBL
      B2RD51
      Related
      ENSP00000329915.3, ENST00000331573.8
      Conserved Domains (1) summary
      pfam16094
      Location:2 → 287
      PAC1; Proteasome assembly chaperone 4

    4. NM_203433.2 → NP_982257.1  proteasome assembly chaperone 1 isoform b

      See identical proteins and their annotated locations for NP_982257.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA731200, AB451468, AW594615, BE779375
      Consensus CDS
      CCDS13661.1
      UniProtKB/TrEMBL
      B2RD51
      Related
      ENSP00000370286.2, ENST00000380900.2
      Conserved Domains (1) summary
      pfam16094
      Location:2 → 266
      PAC1; Proteasome assembly chaperone 4

    RNA

    1. NR_049728.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA731200, AF417108, AW594615, BE779375, FN152980

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      39174769..39183514 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452135.2 → XP_024307903.1  proteasome assembly chaperone 1 isoform X1

      Conserved Domains (1) summary
      pfam16094
      Location:1 → 200
      PAC1; Proteasome assembly chaperone 4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      37559338..37568084 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324908.1 → XP_054180883.1  proteasome assembly chaperone 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95456.1 GenPept UniProtKB/Swiss-Prot:O95456

    Gene LinkOut

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

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