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USP49 ubiquitin specific peptidase 49 [ Homo sapiens (human) ]

Gene ID: 25862, updated on 9-Aug-2020

Summary

Official Symbol
USP49provided by HGNC
Official Full Name
ubiquitin specific peptidase 49provided by HGNC
Primary source
HGNC:HGNC:20078
See related
Ensembl:ENSG00000164663
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
Expression
Ubiquitous expression in testis (RPKM 2.1), thyroid (RPKM 1.8) and 25 other tissues See more
Orthologs

Genomic context

See USP49 in Genome Data Viewer
Location:
6p21.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (41789896..41895375, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41757634..41863099, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene prickle planar cell polarity protein 4 Neighboring gene translocase of outer mitochondrial membrane 6 Neighboring gene mediator complex subunit 20 Neighboring gene bystin like

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
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: MED20

Homology

Clone Names

  • FLJ13620, MGC20741, DKFZp566J1846

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
histone binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
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
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
histone H2B conserved C-terminal lysine deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
mRNA splicing, via spliceosome IMP
Inferred from Mutant Phenotype
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
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ubiquitin carboxyl-terminal hydrolase 49
Names
deubiquitinating enzyme 49
ubiquitin specific protease 49
ubiquitin thioesterase 49
ubiquitin thiolesterase 49
ubiquitin-specific-processing protease 49
NP_001273483.1
NP_061031.2

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_001286554.2NP_001273483.1  ubiquitin carboxyl-terminal hydrolase 49 isoform a

    See identical proteins and their annotated locations for NP_001273483.1

    Status: VALIDATED

    Source sequence(s)
    AL160163, AL365205
    Consensus CDS
    CCDS69111.1
    UniProtKB/Swiss-Prot
    Q70CQ1
    Related
    ENSP00000377797.2, ENST00000394253.7
    Conserved Domains (3) summary
    cl02553
    Location:254655
    Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...
    pfam00443
    Location:252654
    UCH; Ubiquitin carboxyl-terminal hydrolase
    pfam02148
    Location:2687
    zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
  2. NM_001384542.1NP_001371471.1  ubiquitin carboxyl-terminal hydrolase 49 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL160163, AL365205
  3. NM_018561.5NP_061031.2  ubiquitin carboxyl-terminal hydrolase 49 isoform b

    See identical proteins and their annotated locations for NP_061031.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, and it includes alternate 3' exon structure and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AJ586139, AL160163, BC014176
    Consensus CDS
    CCDS4861.1
    UniProtKB/Swiss-Prot
    Q70CQ1
    Related
    ENSP00000362097.1, ENST00000373006.5
    Conserved Domains (2) summary
    pfam00443
    Location:253626
    UCH; Ubiquitin carboxyl-terminal hydrolase
    pfam02148
    Location:2687
    zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    41789896..41895375 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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