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PSMA8 proteasome 20S subunit alpha 8 [ Homo sapiens (human) ]

Gene ID: 143471, updated on 23-Nov-2021

Summary

Official Symbol
PSMA8provided by HGNC
Official Full Name
proteasome 20S subunit alpha 8provided by HGNC
Primary source
HGNC:HGNC:22985
See related
Ensembl:ENSG00000154611 MIM:617841
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
PSMA7L
Expression
Restricted expression toward testis (RPKM 11.3) See more
Orthologs
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Genomic context

See PSMA8 in Genome Data Viewer
Location:
18q11.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (26133869..26193355)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (23713833..23773319)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene SS18 subunit of BAF chromatin remodeling complex Neighboring gene ribosomal protein S24 pseudogene 18 Neighboring gene dihydrofolate reductase pseudogene 1 Neighboring gene nucleophosmin 1 pseudogene 2 Neighboring gene TATA-box binding protein associated factor 4b Neighboring gene SINHCAF 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
GeneReviews: Not available
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26605

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in meiotic cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in proteasomal protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in proteasomal protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of meiosis I IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in nucleus HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of proteasome core complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of proteasome core complex, alpha-subunit complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of proteasome core complex, alpha-subunit complex ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of spermatoproteasome complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
proteasome subunit alpha-type 8
Names
alpha4s
proteasome (prosome, macropain) subunit, alpha type, 8
proteasome alpha 4 subunit
proteasome subunit alpha 8
proteasome subunit alpha type 7-like protein variant 1
NP_001020267.1
NP_001020268.1
NP_001295117.1
NP_653263.2
XP_011524120.1

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_001025096.2NP_001020267.1  proteasome subunit alpha-type 8 isoform 2

    See identical proteins and their annotated locations for NP_001020267.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a shorter isoform (2).
    Source sequence(s)
    BC025393, BC042820
    Consensus CDS
    CCDS45842.1
    UniProtKB/Swiss-Prot
    Q8TAA3
    Related
    ENSP00000409284.2, ENST00000415576.7
    Conserved Domains (2) summary
    PRK03996
    Location:5231
    PRK03996; proteasome subunit alpha; Provisional
    cd03755
    Location:5213
    proteasome_alpha_type_7; proteasome_alpha_type_7. The 20S proteasome, multisubunit proteolytic complex, is the central enzyme of nonlysosomal protein degradation in both the cytosol and nucleus. It is composed of 28 subunits arranged as four homoheptameric rings that stack on ...
  2. NM_001025097.2NP_001020268.1  proteasome subunit alpha-type 8 isoform 3

    See identical proteins and their annotated locations for NP_001020268.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses two different alternate in-frame splice sites in the coding region, compared to variant 1, resulting in a shorter isoform (3).
    Source sequence(s)
    BC025393, BC042820
    Consensus CDS
    CCDS45843.1
    UniProtKB/Swiss-Prot
    Q8TAA3
    Related
    ENSP00000345584.6, ENST00000343848.10
    Conserved Domains (2) summary
    PRK03996
    Location:5193
    PRK03996; proteasome subunit alpha; Provisional
    cl00467
    Location:5175
    Ntn_hydrolase; The Ntn hydrolases (N-terminal nucleophile) are a diverse superfamily of of enzymes that are activated autocatalytically via an N-terminally lcated nucleophilic amino acid. N-terminal nucleophile (NTN-) hydrolase superfamily, which contains a ...
  3. NM_001308188.2NP_001295117.1  proteasome subunit alpha-type 8 isoform 4

    See identical proteins and their annotated locations for NP_001295117.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, contains an alternate exon and uses an alternate in-frame splice site in the coding region, resulting in the use of an alternate start codon compared to variant 1. It encodes isoform 4 which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC016839, BC021713, BI461560
    Consensus CDS
    CCDS77169.1
    UniProtKB/TrEMBL
    A0A087WYS6, Q4G1B8
    Related
    ENSP00000482057.1, ENST00000612461.1
    Conserved Domains (1) summary
    cd03755
    Location:9187
    proteasome_alpha_type_7; proteasome_alpha_type_7. The 20S proteasome, multisubunit proteolytic complex, is the central enzyme of nonlysosomal protein degradation in both the cytosol and nucleus. It is composed of 28 subunits arranged as four homoheptameric rings that stack on ...
  4. NM_144662.3NP_653263.2  proteasome subunit alpha-type 8 isoform 1

    See identical proteins and their annotated locations for NP_653263.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC042820, BC047355
    Consensus CDS
    CCDS32808.1
    UniProtKB/Swiss-Prot
    Q8TAA3
    Related
    ENSP00000311121.6, ENST00000308268.10
    Conserved Domains (2) summary
    PRK03996
    Location:5237
    PRK03996; proteasome subunit alpha; Provisional
    cd03755
    Location:5219
    proteasome_alpha_type_7; proteasome_alpha_type_7. The 20S proteasome, multisubunit proteolytic complex, is the central enzyme of nonlysosomal protein degradation in both the cytosol and nucleus. It is composed of 28 subunits arranged as four homoheptameric rings that stack on ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    26133869..26193355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525818.1XP_011524120.1  proteasome subunit alpha-type 8 isoform X1

    Conserved Domains (1) summary
    cd03755
    Location:9193
    proteasome_alpha_type_7; The 20S proteasome, multisubunit proteolytic complex, is the central enzyme of nonlysosomal protein degradation in both the cytosol and nucleus. It is composed of 28 subunits arranged as four homoheptameric rings that stack on top of one another forming ...
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