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YOD1 YOD1 deubiquitinase [ Homo sapiens (human) ]

Gene ID: 55432, updated on 18-Sep-2024

Summary

Official Symbol
YOD1provided by HGNC
Official Full Name
YOD1 deubiquitinaseprovided by HGNC
Primary source
HGNC:HGNC:25035
See related
Ensembl:ENSG00000180667 MIM:612023; AllianceGenome:HGNC:25035
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
DUBA8; OTUD2; PRO0907
Summary
Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. The protein encoded by this gene belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Expression
Broad expression in bone marrow (RPKM 24.5), esophagus (RPKM 15.7) and 23 other tissues See more
Orthologs
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Genomic context

See YOD1 in Genome Data Viewer
Location:
1q32.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (207043849..207053116, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (206309040..206318351, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207217194..207226461, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:207192892-207194091 Neighboring gene chromosome 1 open reading frame 116 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 4428 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207224117-207224687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207225911-207226550 Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:207240869-207241100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2439 Neighboring gene complement component 4 binding protein beta Neighboring gene uncharacterized LOC107985251 Neighboring gene complement component 4 binding protein alpha

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp451J1719

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables K48-linked deubiquitinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables K63-linked deubiquitinase activity TAS
Traceable Author Statement
more info
PubMed 
enables cysteine-type deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables cysteine-type deubiquitinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables deubiquitinase activity TAS
Traceable Author Statement
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endoplasmic reticulum unfolded protein response IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in endoplasmic reticulum unfolded protein response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of retrograde protein transport, ER to cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein K11-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein K11-linked deubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein K27-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein K29-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein K33-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein K48-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein K48-linked deubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein K63-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein K63-linked deubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ubiquitin thioesterase OTU1
Names
DUBA-8
HIN-7
HIV-1-induced protease 7
OTU domain containing 2
OTU domain-containing protein 2
YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)
hsHIN7
NP_001263249.1
NP_061036.3
XP_047280403.1
XP_054193502.1

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_001276320.2NP_001263249.1  ubiquitin thioesterase OTU1 isoform 2

    See identical proteins and their annotated locations for NP_001263249.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL445493
    Consensus CDS
    CCDS60402.1
    UniProtKB/Swiss-Prot
    Q5VVQ6
    Related
    ENSP00000356051.1, ENST00000367084.1
    Conserved Domains (1) summary
    COG5539
    Location:47303
    COG5539; Predicted cysteine protease (OTU family) [Posttranslational modification, protein turnover, chaperones]
  2. NM_018566.4NP_061036.3  ubiquitin thioesterase OTU1 isoform 1

    See identical proteins and their annotated locations for NP_061036.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL445493
    Consensus CDS
    CCDS31002.1
    UniProtKB/Swiss-Prot
    B2RNX3, Q5VVQ5, Q5VVQ6, Q6ZRS6, Q86T63, Q9P1L8
    Related
    ENSP00000326813.4, ENST00000315927.9
    Conserved Domains (1) summary
    COG5539
    Location:91347
    COG5539; Predicted cysteine protease (OTU family) [Posttranslational modification, protein turnover, chaperones]

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    207043849..207053116 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047424447.1XP_047280403.1  ubiquitin thioesterase OTU1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    206309040..206318351 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337527.1XP_054193502.1  ubiquitin thioesterase OTU1 isoform X1