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USP12 ubiquitin specific peptidase 12 [ Homo sapiens (human) ]

Gene ID: 219333, updated on 3-May-2020

Summary

Official Symbol
USP12provided by HGNC
Official Full Name
ubiquitin specific peptidase 12provided by HGNC
Primary source
HGNC:HGNC:20485
See related
Ensembl:ENSG00000152484 MIM:603091
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
UBH1; USP12L1
Expression
Ubiquitous expression in brain (RPKM 15.7), lymph node (RPKM 15.4) and 25 other tissues See more
Orthologs

Genomic context

See USP12 in Genome Data Viewer
Location:
13q12.13
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (27066154..27171811, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (27640287..27746033, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S20 pseudogene 32 Neighboring gene uncharacterized LOC105370124 Neighboring gene RBBP8 pseudogene 2 Neighboring gene USP12 antisense RNA 1 Neighboring gene USP12 antisense RNA 2 (head to head) Neighboring gene long intergenic non-protein coding RNA 2340 Neighboring gene long intergenic non-protein coding RNA 412

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.
NHGRI GWA Catalog
Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ubiquitin carboxyl-terminal hydrolase 12
Names
deubiquitinating enzyme 12
ubiquitin specific protease 12 like 1
ubiquitin thioesterase 12
ubiquitin thiolesterase 12
ubiquitin-hydrolyzing enzyme 1
ubiquitin-specific-processing protease 12
NP_872294.2
XP_005266339.1
XP_011533258.1
XP_016875905.1

NCBI Reference Sequences (RefSeq)

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_182488.4NP_872294.2  ubiquitin carboxyl-terminal hydrolase 12

    See identical proteins and their annotated locations for NP_872294.2

    Status: VALIDATED

    Source sequence(s)
    AF022789, AL355473, BC026072
    Consensus CDS
    CCDS31952.1
    UniProtKB/Swiss-Prot
    O75317
    Related
    ENSP00000282344.6, ENST00000282344.11
    Conserved Domains (1) summary
    cd02663
    Location:40367
    Peptidase_C19G; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    27066154..27171811 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266282.2XP_005266339.1  ubiquitin carboxyl-terminal hydrolase 12 isoform X1

    See identical proteins and their annotated locations for XP_005266339.1

    Conserved Domains (1) summary
    cd02663
    Location:40310
    Peptidase_C19G; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
  2. XM_017020416.1XP_016875905.1  ubiquitin carboxyl-terminal hydrolase 12 isoform X2

    Conserved Domains (1) summary
    cd02663
    Location:1247
    Peptidase_C19G; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
  3. XM_011534956.2XP_011533258.1  ubiquitin carboxyl-terminal hydrolase 12 isoform X2

    See identical proteins and their annotated locations for XP_011533258.1

    Conserved Domains (1) summary
    cd02663
    Location:1247
    Peptidase_C19G; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
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