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    USP48 ubiquitin specific peptidase 48 [ Homo sapiens (human) ]

    Gene ID: 84196, updated on 3-Dec-2024

    Summary

    Official Symbol
    USP48provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 48provided by HGNC
    Primary source
    HGNC:HGNC:18533
    See related
    Ensembl:ENSG00000090686 MIM:617445; AllianceGenome:HGNC:18533
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    USP31; DFNA85; RAP1GA1
    Summary
    This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 9.7), lymph node (RPKM 7.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See USP48 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (21678298..21783149, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (21502254..21607091, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22004791..22109642, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21917321-21917860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21917861-21918399 Neighboring gene long intergenic non-protein coding RNA 2596 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:21928741-21928970 Neighboring gene Sharpr-MPRA regulatory region 12165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21937517-21938264 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:21939576-21939868 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21945135-21945976 Neighboring gene RAP1 GTPase activating protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21958265-21959233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21960338-21961086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21961087-21961835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21966135-21966964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21977615-21978365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21992551-21993051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 387 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:21996570-21997769 Neighboring gene uncharacterized LOC124904736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:22099067-22099566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 337 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22108688-22109459 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22109460-22110230 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22112153-22112327 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22137244-22137394 Neighboring gene Sharpr-MPRA regulatory region 6146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22148116-22148982 Neighboring gene low density lipoprotein receptor class A domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22168222-22168722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22170194-22170694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22174882-22175382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22175383-22175883 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608 Neighboring gene heparan sulfate proteoglycan 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22191053-22191858 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22191859-22192664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 341 Neighboring gene ribosomal protein L21 pseudogene 29

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC14879, MGC132556, DKFZp762M1713

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein deubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein stability IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 48
    Names
    deubiquitinating enzyme 48
    ubiquitin specific protease 31
    ubiquitin thioesterase 48
    ubiquitin thiolesterase 48
    ubiquitin-specific-processing protease 48
    NP_001027902.1
    NP_001317323.1
    NP_001337093.1
    NP_001337095.1
    NP_001337096.1
    NP_001337097.1
    NP_115612.4
    XP_006711018.1
    XP_011540566.1
    XP_011540569.1
    XP_011540570.1
    XP_047287982.1
    XP_047287983.1
    XP_047287985.1
    XP_047287986.1
    XP_047287987.1
    XP_047287988.1
    XP_047287989.1
    XP_054195088.1
    XP_054195089.1
    XP_054195090.1
    XP_054195091.1
    XP_054195092.1
    XP_054195093.1
    XP_054195094.1
    XP_054195095.1
    XP_054195096.1
    XP_054195097.1
    XP_054195098.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_047203.1 RefSeqGene

      Range
      5051..109902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032730.3NP_001027902.1  ubiquitin carboxyl-terminal hydrolase 48 isoform b

      See identical proteins and their annotated locations for NP_001027902.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, compared to variant 1. The encoded isoform (b) is much shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC067261, BM462540, CA436959
      Consensus CDS
      CCDS44084.1
      UniProtKB/Swiss-Prot
      Q86UV5
      Related
      ENSP00000406256.2, ENST00000421625.6
      Conserved Domains (1) summary
      cd02668
      Location:90419
      Peptidase_C19L; 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. NM_001330394.3NP_001317323.1  ubiquitin carboxyl-terminal hydrolase 48 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AF502942, AL359815, BC104896, BQ027743, DB134378
      Consensus CDS
      CCDS81277.1
      UniProtKB/TrEMBL
      B7ZKR8
      Related
      ENSP00000383157.1, ENST00000400301.5
      Conserved Domains (4) summary
      cd02668
      Location:90419
      Peptidase_C19L; 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 ...
      pfam00443
      Location:89418
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam06337
      Location:484554
      DUSP; DUSP domain
      cl00155
      Location:909983
      UBQ; Ubiquitin-like proteins
    3. NM_001350164.2NP_001337093.1  ubiquitin carboxyl-terminal hydrolase 48 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (d) has the same N- and C-termini, but is shorter compared to isoform a.
      Source sequence(s)
      AF502942, AK226150, AL359815, BQ027743, BQ220710, DB134378
      UniProtKB/TrEMBL
      B7ZKS3
      Conserved Domains (2) summary
      cd01795
      Location:862968
      USP48_C; USP ubiquitin-specific protease
      cd02668
      Location:90418
      Peptidase_C19L; 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 ...
    4. NM_001350166.2NP_001337095.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses two alternate in-frame splice sites in the central coding region, compared to variant 1. The encoded isoform (e) has the same N- and C-termini, but is two aa shorter than isoform a.
      Source sequence(s)
      AK074247, AL359815, AL834375, BC104896, BQ027743, BQ220710, DB134378
      UniProtKB/TrEMBL
      B7ZKS3
      Conserved Domains (3) summary
      cd01795
      Location:9271033
      USP48_C; USP ubiquitin-specific protease
      cd02668
      Location:90418
      Peptidase_C19L; 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 ...
      pfam06337
      Location:483553
      DUSP; DUSP domain
    5. NM_001350167.2NP_001337096.1  ubiquitin carboxyl-terminal hydrolase 48 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (f) has the same N- and C-termini, but is one aa shorter than isoform a. This isoform is the same length as isoform g, but contains a unique sequence.
      Source sequence(s)
      AL359815, AL834375, BC104896, BM928619, BQ027743, BQ220710, DB134378
      UniProtKB/TrEMBL
      B7ZKS3
      Related
      ENSP00000431949.1, ENST00000529637.5
      Conserved Domains (3) summary
      cd01795
      Location:9281034
      USP48_C; USP ubiquitin-specific protease
      cd02668
      Location:90418
      Peptidase_C19L; 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 ...
      pfam06337
      Location:483553
      DUSP; DUSP domain
    6. NM_001350168.2NP_001337097.1  ubiquitin carboxyl-terminal hydrolase 48 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (g) has the same N- and C-termini, but is one aa shorter than isoform a. This isoform is the same length as isoform f, but contains a unique sequence.
      Source sequence(s)
      AK074247, AL359815, AL834375, BC104896, BE378955, BQ027743, BQ220710, DB134378
      UniProtKB/TrEMBL
      B7ZKS3
      Conserved Domains (3) summary
      cd01795
      Location:9281034
      USP48_C; USP ubiquitin-specific protease
      cd02668
      Location:90419
      Peptidase_C19L; 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 ...
      pfam06337
      Location:484554
      DUSP; DUSP domain
    7. NM_032236.8NP_115612.4  ubiquitin carboxyl-terminal hydrolase 48 isoform a

      See identical proteins and their annotated locations for NP_115612.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF502942, AL359815, BQ027743, DB134378
      Consensus CDS
      CCDS30623.1
      UniProtKB/Swiss-Prot
      B7ZKS7, Q2M3I4, Q5SZI4, Q5T3T5, Q6NX53, Q86UV5, Q8N3F6, Q96F64, Q96IQ3, Q9H5N3, Q9H5T7, Q9NUJ6, Q9NXR0
      UniProtKB/TrEMBL
      B7ZKS3
      Related
      ENSP00000309262.9, ENST00000308271.14
      Conserved Domains (4) summary
      cd01795
      Location:9291035
      USP48_C; USP ubiquitin-specific protease
      cd02668
      Location:90419
      Peptidase_C19L; 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 ...
      pfam00443
      Location:89418
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam06337
      Location:484554
      DUSP; DUSP domain

    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
      21678298..21783149 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432030.1XP_047287986.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X6

      UniProtKB/TrEMBL
      B7ZKS3
    2. XM_047432026.1XP_047287982.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X1

      UniProtKB/TrEMBL
      B7ZKR8
    3. XM_047432029.1XP_047287985.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X4

      UniProtKB/TrEMBL
      B7ZKS3
    4. XM_047432031.1XP_047287987.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X7

      UniProtKB/TrEMBL
      B7ZKR8
    5. XM_006710955.5XP_006711018.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X3

      See identical proteins and their annotated locations for XP_006711018.1

      UniProtKB/TrEMBL
      B7ZKS3
      Conserved Domains (2) summary
      cd02668
      Location:90419
      Peptidase_C19L; 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 ...
      cd01795
      Location:873968
      Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins
    6. XM_047432027.1XP_047287983.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X2

      UniProtKB/TrEMBL
      B7ZKR8
    7. XM_011542264.2XP_011540566.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X5

      UniProtKB/TrEMBL
      B7ZKS3
      Conserved Domains (5) summary
      cd01795
      Location:862968
      USP48_C; USP ubiquitin-specific protease
      cd02668
      Location:23352
      Peptidase_C19L; 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 ...
      pfam00443
      Location:22351
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam06337
      Location:417487
      DUSP; DUSP domain
      cl12116
      Location:670713
      DUSP; DUSP domain
    8. XM_011542267.4XP_011540569.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X10

      See identical proteins and their annotated locations for XP_011540569.1

      UniProtKB/TrEMBL
      A0A0A0MRS6
      Conserved Domains (3) summary
      cd01795
      Location:515621
      USP48_C; USP ubiquitin-specific protease
      pfam06337
      Location:70140
      DUSP; DUSP domain
      cl12116
      Location:323366
      DUSP; DUSP domain
    9. XM_011542268.3XP_011540570.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X10

      See identical proteins and their annotated locations for XP_011540570.1

      UniProtKB/TrEMBL
      A0A0A0MRS6
      Conserved Domains (3) summary
      cd01795
      Location:515621
      USP48_C; USP ubiquitin-specific protease
      pfam06337
      Location:70140
      DUSP; DUSP domain
      cl12116
      Location:323366
      DUSP; DUSP domain
    10. XM_047432033.1XP_047287989.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X9

      UniProtKB/TrEMBL
      B7ZKR8
    11. XM_047432032.1XP_047287988.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X8

      UniProtKB/TrEMBL
      B7ZKR8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      21502254..21607091 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339118.1XP_054195093.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X6

      UniProtKB/TrEMBL
      B7ZKS3
    2. XM_054339113.1XP_054195088.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X1

      UniProtKB/TrEMBL
      B7ZKR8
    3. XM_054339116.1XP_054195091.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X4

      UniProtKB/TrEMBL
      B7ZKS3
    4. XM_054339119.1XP_054195094.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X7

      UniProtKB/TrEMBL
      B7ZKR8
    5. XM_054339115.1XP_054195090.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X3

      UniProtKB/TrEMBL
      B7ZKS3
    6. XM_054339114.1XP_054195089.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X2

      UniProtKB/TrEMBL
      B7ZKR8
    7. XM_054339117.1XP_054195092.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X5

      UniProtKB/TrEMBL
      B7ZKS3
    8. XM_054339122.1XP_054195097.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X10

      UniProtKB/TrEMBL
      A0A0A0MRS6
    9. XM_054339123.1XP_054195098.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X10

      UniProtKB/TrEMBL
      A0A0A0MRS6
    10. XM_054339121.1XP_054195096.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X9

      UniProtKB/TrEMBL
      B7ZKR8
    11. XM_054339120.1XP_054195095.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X8

      UniProtKB/TrEMBL
      B7ZKR8