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usp48 ubiquitin specific peptidase 48 [ Danio rerio (zebrafish) ]

Gene ID: 100332674, updated on 18-Sep-2024

Summary

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Official Symbol
usp48provided by ZNC
Official Full Name
ubiquitin specific peptidase 48provided by ZNC
Primary source
ZFIN:ZDB-GENE-050522-197
See related
Ensembl:ENSDARG00000090301 AllianceGenome:ZFIN:ZDB-GENE-050522-197
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
im:7139343; zgc:112364
Summary
Predicted to enable cysteine-type endopeptidase activity and thiol-dependent deubiquitinase. Acts upstream of or within cranial skeletal system development. Predicted to be active in cytosol and nucleus. Orthologous to human USP48 (ubiquitin specific peptidase 48). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
human mouse all
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Genomic context

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See usp48 in Genome Data Viewer
Location:
chromosome: 11
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 11 NC_007122.7 (36452291..36475107, complement)
105 previous assembly GRCz10 (GCF_000002035.5) 11 NC_007122.6 (36190310..36213091, complement)

Chromosome 11 - NC_007122.7Genomic Context describing neighboring genes Neighboring gene cytochrome b561 family, member D1 Neighboring gene zinc finger and BTB domain containing 40 Neighboring gene low density lipoprotein receptor class A domain containing 2 Neighboring gene uncharacterized LOC110440122

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss. Bassani S, et al. Hum Mol Genet, 2021 Sep 15. PMID 34059922
  2. Female Sex Development and Reproductive Duct Formation Depend on Wnt4a in Zebrafish. Kossack ME, et al. Genetics, 2019 Jan. PMID 30446521, Free PMC Article
  3. Importance of deubiquitinases in zebrafish craniofacial development. Tse WKF. Biochem Biophys Res Commun, 2017 Jun 10. PMID 28450118
  4. Genome-wide loss-of-function analysis of deubiquitylating enzymes for zebrafish development. Tse WK, et al. BMC Genomics, 2009 Dec 30. PMID 20040115, Free PMC Article
  5. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Markers

Homology

Clone Names

  • MGC112364

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables cysteine-type deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-type deubiquitinase activity IEA
Inferred from Electronic Annotation
more info
  
enables cysteine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables cysteine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cranial skeletal system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein deubiquitination IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of protein stability IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within response to auditory stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within thigmotaxis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ubiquitin carboxyl-terminal hydrolase 48
NP_001411018.1
XP_068080197.1
XP_068080198.1
XP_068080199.1

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_001424089.1 → NP_001411018.1  ubiquitin carboxyl-terminal hydrolase 48

    Status: VALIDATED

    Source sequence(s)
    CU928222
    UniProtKB/Swiss-Prot
    A0A0R4IB93, A0A8M2BK68
    Related
    ENSDARP00000130019.1, ENSDART00000165203.2

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

  1. NC_007122.7 Reference GRCz11 Primary Assembly

    Range
    36452291..36475107 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_068224096.1 → XP_068080197.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X1

  2. XM_068224097.1 → XP_068080198.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X1

    Related
    ENSDARP00000111894.2, ENSDART00000123591.3

  3. XM_068224098.1 → XP_068080199.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001024410.1: Suppressed sequence

    Description
    NM_001024410.1: This RefSeq was suppressed temporarily based on the calculation that the encoded protein was shorter than proteins from the putative ortholog from chicken: USP48 (GeneID:769457).
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A0R4IB93.1 GenPept UniProtKB/Swiss-Prot:A0A0R4IB93

Gene LinkOut

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