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

Gene ID: 8624, updated on 21-Dec-2019

Summary

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
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; DSCR2; PAC-1; C21LRP; LRPC21
Expression
Broad expression in testis (RPKM 57.7), thyroid (RPKM 14.4) and 23 other tissues See more
Orthologs

Genomic context

See PSMG1 in Genome Data Viewer
Location:
21q22.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (39174769..39183514, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40449076..40555440, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 12 Neighboring gene poly(rC) binding protein 2 pseudogene 1 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
NHGRI GWA Catalog
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
NHGRI GWA 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.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
proteasome binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cerebellar granule cell precursor proliferation IEA
Inferred from Electronic Annotation
more info
 
proteasome assembly IDA
Inferred from Direct Assay
more info
PubMed 
proteasome core complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus HDA PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001261824.1NP_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
    Conserved Domains (1) summary
    pfam16094
    Location:2282
    PAC1; Proteasome assembly chaperone 4
  2. NM_001320795.1NP_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:1200
    PAC1; Proteasome assembly chaperone 4
  3. NM_003720.4NP_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
    O95456
    Related
    ENSP00000329915.3, ENST00000331573.8
    Conserved Domains (1) summary
    pfam16094
    Location:2287
    PAC1; Proteasome assembly chaperone 4
  4. NM_203433.2NP_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/Swiss-Prot
    O95456
    Related
    ENSP00000370286.2, ENST00000380900.2
    Conserved Domains (1) summary
    pfam16094
    Location:2266
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam16094
    Location:1200
    PAC1; Proteasome assembly chaperone 4
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