psmc3 proteasome 26S subunit, ATPase 3 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: psmc3provided by ZNC
Official Full Name: proteasome 26S subunit, ATPase 3provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-666
See related: Ensembl:ENSDARG00000007141 AllianceGenome:ZFIN:ZDB-GENE-030131-666
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:86713; wu:fb39a02
Summary: Predicted to enable proteasome-activating activity. Involved in lens development in camera-type eye and semicircular canal fusion. Predicted to be located in cytoplasm and nucleus. Predicted to be part of proteasome regulatory particle, base subcomplex. Is expressed in inner ear. Used to study cataract and sensorineural hearing loss. Orthologous to human PSMC3 (proteasome 26S subunit, ATPase 3). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 7

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	7	NC_007118.7 (38680044..38685154)
105	previous assembly	GRCz10 (GCF_000002035.5)	7	NC_007118.6 (38408734..38413896)

Chromosome 7 - NC_007118.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Title: Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.

Submit: New GeneRIF Correction

General gene information

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Markers

fb39a02.x1 (e-PCR)
- UniSTS:190552

AI444505 (e-PCR)
- UniSTS:206560

Gene Ontology Provided by ZFIN

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 hydrolase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables proteasome-activating activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in semicircular canal fusion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of proteasome complex	IEA Inferred from Electronic Annotation more info
part_of proteasome regulatory particle, base subcomplex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: 26S proteasome regulatory subunit 6A

Names: proteasome (prosome, macropain) 26S subunit, ATPase, 3

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_001002064.1 → NP_001002064.1 26S proteasome regulatory subunit 6A

See identical proteins and their annotated locations for NP_001002064.1

Status: PROVISIONAL

Source sequence(s)

BC071390

UniProtKB/TrEMBL

Q6IQL5

Related

ENSDARP00000026554.8, ENSDART00000007913.12

Conserved Domains (2) summary

COG1222
Location:9 → 397

RPT1; ATP-dependent 26S proteasome regulatory subunit [Posttranslational modification, protein turnover, chaperones]

pfam00004
Location:188 → 320

AAA; ATPase family associated with various cellular activities (AAA)

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007118.7 Reference GRCz11 Primary Assembly

Range

38680044..38685154

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005168962.5 → XP_005169019.1 26S proteasome regulatory subunit 6A isoform X1

UniProtKB/TrEMBL

A0A0R4ILA8, A0A8M2BG93

Related

ENSDARP00000136258.1, ENSDART00000171691.2

Conserved Domains (1) summary

COG1222
Location:12 → 420

RPT1; ATP-dependent 26S proteasome regulatory subunit [Posttranslational modification, protein turnover, chaperones]
XM_005168963.5 → XP_005169020.1 26S proteasome regulatory subunit 6A isoform X2

UniProtKB/TrEMBL

A0A8M2BGA0

Conserved Domains (2) summary

COG1222
Location:12 → 418

RPT1; ATP-dependent 26S proteasome regulatory subunit [Posttranslational modification, protein turnover, chaperones]

pfam00004
Location:209 → 341

AAA; ATPase family associated with various cellular activities (AAA)