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OTUD1 OTU deubiquitinase 1 [ Homo sapiens (human) ]

Gene ID: 220213, updated on 10-Dec-2024

Summary

Official Symbol
OTUD1provided by HGNC
Official Full Name
OTU deubiquitinase 1provided by HGNC
Primary source
HGNC:HGNC:27346
See related
Ensembl:ENSG00000165312 MIM:612022; AllianceGenome:HGNC:27346
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
DUBA7; OTDC1
Summary
Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]
Orthologs
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Genomic context

See OTUD1 in Genome Data Viewer
Location:
10p12.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (23439075..23442377)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (23459207..23462509)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (23728004..23731306)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene chromosome 10 open reading frame 67 Neighboring gene C10orf67 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 3018 Neighboring gene uncharacterized LOC124902591 Neighboring gene NANOG hESC enhancer GRCh37_chr10:23698923-23699424 Neighboring gene MPRA-validated peak907 silencer Neighboring gene MPRA-validated peak908 silencer Neighboring gene MIR1254-2-OTUD1 intergenic CAGE-defined monocyte enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2217 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:23800961-23802160 Neighboring gene uncharacterized LOC105376454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2220 Neighboring gene KIAA1217 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:24113200-24113379 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:24207043-24207938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:24207939-24208832 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:24385043-24385660 Neighboring gene nucleoporin 35 pseudogene 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of OTU domain containing 1 (OTUD1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
OTU domain-containing protein 1
Names
DUBA-7
OTU domain containing 1
NP_001138845.1

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_001145373.3NP_001138845.1  OTU domain-containing protein 1

    See identical proteins and their annotated locations for NP_001138845.1

    Status: VALIDATED

    Source sequence(s)
    AL512603
    Consensus CDS
    CCDS44366.1
    UniProtKB/Swiss-Prot
    Q5VV17
    Related
    ENSP00000365678.3, ENST00000376495.5
    Conserved Domains (1) summary
    pfam02338
    Location:315432
    OTU; OTU-like cysteine protease

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    23439075..23442377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    23459207..23462509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)