Human Gene PSMG1 (ENST00000331573.8_7) from GENCODE V47lift37
  Description: proteasome assembly chaperone 1, transcript variant 1 (from RefSeq NM_003720.4)
Gencode Transcript: ENST00000331573.8_7
Gencode Gene: ENSG00000183527.12_10
Transcript (Including UTRs)
   Position: hg19 chr21:40,546,695-40,555,377 Size: 8,683 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr21:40,547,516-40,555,311 Size: 7,796 Coding Exon Count: 7 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:40,546,695-40,555,377)mRNA (may differ from genome)Protein (288 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PSMG1_HUMAN
DESCRIPTION: RecName: Full=Proteasome assembly chaperone 1; Short=PAC-1; AltName: Full=Chromosome 21 leucine-rich protein; Short=C21-LRP; AltName: Full=Down syndrome critical region protein 2;
FUNCTION: Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG2. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization.
SUBUNIT: Forms a heterodimer with PSMG2. The PSMG1-PSMG2 heterodimer interacts directly with the PSMA5 and PSMA7 proteasome alpha subunits.
SUBCELLULAR LOCATION: Cytoplasm. Endoplasmic reticulum.
TISSUE SPECIFICITY: In the adult, detected in brain, colon, leukocytes, breast and testis. Widely expressed in the fetus. Also expressed in a variety of proliferating cell lines.
PTM: Degraded by the proteasome upon completion of 20S proteasome maturation.
SIMILARITY: Belongs to the PSMG1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PSMG1
Diseases sorted by gene-association score: down syndrome (4), thrombasthenia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 51.71 RPKM in Testis
Total median expression: 387.23 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -27.6066-0.418 Picture PostScript Text
3' UTR -211.20821-0.257 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016565 - Proteasome_assmbl_chp_1

Pfam Domains:
PF16094 - Proteasome assembly chaperone 4

ModBase Predicted Comparative 3D Structure on O95456
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0070628 proteasome binding

Biological Process:
GO:0021930 cerebellar granule cell precursor proliferation
GO:0043248 proteasome assembly
GO:0080129 proteasome core complex assembly

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK308614 - Homo sapiens cDNA, FLJ98655.
BC010424 - Homo sapiens proteasome (prosome, macropain) assembly chaperone 1, mRNA (cDNA clone MGC:15154 IMAGE:3343732), complete cds.
BC003619 - Homo sapiens proteasome (prosome, macropain) assembly chaperone 1, mRNA (cDNA clone MGC:1914 IMAGE:2961575), complete cds.
BC011755 - Homo sapiens proteasome (prosome, macropain) assembly chaperone 1, mRNA (cDNA clone MGC:19705 IMAGE:3531528), complete cds.
BC012809 - Homo sapiens proteasome (prosome, macropain) assembly chaperone 1, mRNA (cDNA clone MGC:3773 IMAGE:2961575), complete cds.
AJ006291 - Homo sapiens mRNA for leucine rich protein.
AK001455 - Homo sapiens cDNA FLJ10593 fis, clone NT2RP2004655, highly similar to Homo sapiens mRNA for leucine rich protein.
AF417108 - Homo sapiens Down syndrome critical region gene 2 (DSCR2) mRNA, partial sequence, alternatively spliced.
AY463963 - Homo sapiens Down syndrome critical region protein 2 (DSCR2) mRNA, complete cds; alternatively spliced.
CR541821 - Homo sapiens full open reading frame cDNA clone RZPDo834D0232D for gene DSCR2, Down syndrome critical region gene 2; complete cds, incl. stopcodon.
AK315406 - Homo sapiens cDNA, FLJ96455, highly similar to Homo sapiens Down syndrome critical region gene 2 (DSCR2), mRNA.
KJ897881 - Synthetic construct Homo sapiens clone ccsbBroadEn_07275 PSMG1 gene, encodes complete protein.
DQ892311 - Synthetic construct clone IMAGE:100004941; FLH185119.01X; RZPDo839F06146D Down syndrome critical region gene 2 (DSCR2) gene, encodes complete protein.
DQ895511 - Synthetic construct Homo sapiens clone IMAGE:100009971; FLH185115.01L; RZPDo839F06145D Down syndrome critical region gene 2 (DSCR2) gene, encodes complete protein.
AB451468 - Homo sapiens PSMG1 mRNA for Down syndrome critical region protein 2 isoform b, partial cds, clone: FLJ10593SAAF.
CR541852 - Homo sapiens full open reading frame cDNA clone RZPDo834E0432D for gene DSCR2, Down syndrome critical region gene 2; complete cds, without stopcodon.
CU678538 - Synthetic construct Homo sapiens gateway clone IMAGE:100020689 5' read DSCR2 mRNA.
AK308671 - Homo sapiens cDNA, FLJ98712.

-  Other Names for This Gene
  Alternate Gene Symbols: B5BUN2, C21LRP, DSCR2, ENST00000331573.1, ENST00000331573.2, ENST00000331573.3, ENST00000331573.4, ENST00000331573.5, ENST00000331573.6, ENST00000331573.7, NM_003720, O95456, PAC1, PSMG1_HUMAN, Q6FHA3, Q6FHD3, Q6S713, uc317tgf.1, uc317tgf.2
UCSC ID: ENST00000331573.8_7
RefSeq Accession: NM_003720.4
Protein: O95456 (aka PSMG1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.