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PSMC1 proteasome 26S subunit, ATPase 1 [ Homo sapiens (human) ]

Gene ID: 5700, updated on 27-Nov-2024

Summary

Official Symbol
PSMC1provided by HGNC
Official Full Name
proteasome 26S subunit, ATPase 1provided by HGNC
Primary source
HGNC:HGNC:9547
See related
Ensembl:ENSG00000100764 MIM:602706; AllianceGenome:HGNC:9547
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
S4; p56; RPT2; P26S4; NEDGTH
Summary
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 27.5), fat (RPKM 23.0) and 25 other tissues See more
Orthologs
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Genomic context

See PSMC1 in Genome Data Viewer
Location:
14q32.11
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (90256553..90275429)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (84478491..84499697)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (90722897..90741773)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90527279-90527780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90527781-90528280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90555766-90556266 Neighboring gene potassium two pore domain channel subfamily K member 13 Neighboring gene glutaredoxin pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr14:90625508-90626009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90650653-90651154 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr14:90722543-90723072 and GRCh37_chr14:90723073-90723600 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90757747-90758946 Neighboring gene NRDE-2, necessary for RNA interference, domain containing Neighboring gene Sharpr-MPRA regulatory region 379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90792221-90792722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90792723-90793222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8875 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:90819601-90819793 Neighboring gene uncharacterized LOC105370618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:90848618-90849145 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:90849146-90849672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:90849673-90850199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8879 Neighboring gene ribosomal protein L21 pseudogene 11 Neighboring gene Sharpr-MPRA regulatory region 5900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8881 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984 Neighboring gene calmodulin 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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat slightly enhances the activity of the purified 26 S proteasome PubMed
tat Amino acids Lys51, Arg52, and Asp67 of HIV-1 Tat represent the proteasome binding site of Tat, and Tat amino acids 37-72 are necessary for proteasomal interaction and suppression of 11 S regulator-mediated antigen presentation PubMed
tat HIV-1 Tat inhibits the peptidase activity of the 20 S proteasome and interferes with the formation of the 20 S proteasome-11 S regulator complex PubMed
tat HIV-1 Tat binds to the alpha2, alpha4, alpha6, alpha7, beta1, beta2, beta3, beta5, beta6, beta7, LMP7/beta5i, and MECL1/beta2i subunits of the proteasome 20 S core structure and can inhibit cellular proteasome function PubMed
Vif vif HIV-1 Vif binds to the cellular cytidine deaminase APOBEC3G and targets it for degradation through an interaction with the proteasome, thereby inhibiting APOBEC3G mediated restriction of HIV-1 replication PubMed
integrase gag-pol Proteasomal degradation of HIV-1 integrase in mammalian cells occurs by the N-end rule pathway PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC8541, MGC24583

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables RNA binding HDA PubMed 
enables proteasome-activating activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables proteasome-activating activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus HDA PubMed 
part_of proteasome accessory complex ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of proteasome complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of proteasome complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of proteasome regulatory particle, base subcomplex IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
26S proteasome regulatory subunit 4
Names
26S protease regulatory subunit 4
26S proteasome AAA-ATPase subunit RPT2
proteasome (prosome, macropain) 26S subunit, ATPase, 1
proteasome 26S ATPase subunit 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.

Genomic

  1. NG_046999.2 RefSeqGene

    Range
    5002..23878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330212.2NP_001317141.1  26S proteasome regulatory subunit 4 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' structure, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AL161662, AL355074, BQ574737
    Consensus CDS
    CCDS81837.1
    UniProtKB/TrEMBL
    Q53HB3
    Related
    ENSP00000445147.2, ENST00000543772.2
    Conserved Domains (1) summary
    PTZ00361
    Location:1367
    PTZ00361; 26 proteosome regulatory subunit 4-like protein; Provisional
  2. NM_002802.3NP_002793.2  26S proteasome regulatory subunit 4 isoform a

    See identical proteins and their annotated locations for NP_002793.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a)
    Source sequence(s)
    AL161662, AL355074
    Consensus CDS
    CCDS32139.1
    UniProtKB/Swiss-Prot
    B4DR63, P49014, P62191, Q03527, Q6IAW0, Q6NW36, Q96AZ3
    UniProtKB/TrEMBL
    Q53HB3, Q53XL8
    Related
    ENSP00000261303.8, ENST00000261303.13
    Conserved Domains (1) summary
    PTZ00361
    Location:1440
    PTZ00361; 26 proteosome regulatory subunit 4-like protein; Provisional

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    90256553..90275429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    84478491..84499697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376421.1XP_054232396.1  26S proteasome regulatory subunit 4 isoform X1

    UniProtKB/Swiss-Prot
    B4DR63, P49014, P62191, Q03527, Q6IAW0, Q6NW36, Q96AZ3
    UniProtKB/TrEMBL
    Q53XL8