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

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; AllianceGenome:HGNC:22985
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
Summary: Predicted to be involved in meiotic cell cycle and proteasome-mediated ubiquitin-dependent protein catabolic process. Located in extracellular exosome and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 11.3) See more
Orthologs: mouse all
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Genomic context

Location:: 18q11.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (26133869..26193355)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (26328519..26387998)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (23713833..23773319)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This article provides an overview of some of the components in the human 20 S proteasome.
Title: Mapping and structural dissection of human 20 S proteasome using proteomic approaches.

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 identifies genetic risk underlying primary rhegmatogenous retinal detachment. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chronic periodontitis in a general German population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

PMC85091P1 (e-PCR)
- UniSTS:273465

SHGC-82018 (e-PCR)
- UniSTS:102988

PMC303366P3 (e-PCR)
- UniSTS:272510

RH70434 (e-PCR)
- UniSTS:89482

PMC149466P9 (e-PCR)
- UniSTS:271044

PMC89807P1 (e-PCR)
- UniSTS:273613

PMC137126P1 (e-PCR)
- UniSTS:270818

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	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor 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

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of proteasome core complex, alpha-subunit complex	IBA Inferred from Biological aspect of Ancestor more info
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

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Preferred Names: proteasome subunit alpha-type 8

Names: alpha4s; proteasome (prosome, macropain) subunit, alpha type, 8; proteasome alpha 4 subunit; proteasome subunit alpha 8

NP_001020267.1

EC 3.4.25.1

NP_001020268.1

EC 3.4.25.1

NP_001295117.1

EC 3.4.25.1

NP_653263.2

EC 3.4.25.1

XP_011524120.1

EC 3.4.25.1

XP_054174177.1

EC 3.4.25.1

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)

NM_001025096.2 → NP_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/TrEMBL

B0YJ74

Related

ENSP00000409284.2, ENST00000415576.7

Conserved Domains (2) summary

PRK03996
Location:5 → 231

PRK03996; proteasome subunit alpha; Provisional

cd03755
Location:5 → 213

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 ...
NM_001025097.2 → NP_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/TrEMBL

B0YJ74

Related

ENSP00000345584.6, ENST00000343848.10

Conserved Domains (2) summary

PRK03996
Location:5 → 193

PRK03996; proteasome subunit alpha; Provisional

cl00467
Location:5 → 175

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 ...
NM_001308188.2 → NP_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:9 → 187

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 ...
NM_144662.3 → NP_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

B0YJ75, Q8IVP4, Q8TA98, Q8TAA2, Q8TAA3

UniProtKB/TrEMBL

B0YJ74

Related

ENSP00000311121.6, ENST00000308268.10

Conserved Domains (2) summary

PRK03996
Location:5 → 237

PRK03996; proteasome subunit alpha; Provisional

cd03755
Location:5 → 219

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: 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

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

26133869..26193355

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011525818.2 → XP_011524120.1 proteasome subunit alpha-type 8 isoform X1

UniProtKB/TrEMBL

Q4G1B8

Conserved Domains (1) summary

cd03755
Location:9 → 193

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 ...