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    USP44 ubiquitin specific peptidase 44 [ Homo sapiens (human) ]

    Gene ID: 84101, updated on 14-Nov-2024

    Summary

    Official Symbol
    USP44provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 44provided by HGNC
    Primary source
    HGNC:HGNC:20064
    See related
    Ensembl:ENSG00000136014 MIM:610993; AllianceGenome:HGNC:20064
    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
    Summary
    The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]
    Expression
    Biased expression in testis (RPKM 9.0), lung (RPKM 1.3) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See USP44 in Genome Data Viewer
    Location:
    12q22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (95516560..95551681, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (95497607..95532730, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (95910336..95945252, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6810 Neighboring gene ribosomal protein L29 pseudogene 26 Neighboring gene methionyl aminopeptidase 2 Neighboring gene MPRA-validated peak1899 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:95916458-95916958 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:95936387-95936886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:96004940-96005508 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:96005509-96006077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:96008766-96009393 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:96016523-96017477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4739 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:96026735-96027934 Neighboring gene Sharpr-MPRA regulatory region 15569 Neighboring gene phosphoglycerate mutase 1 pseudogene 5 Neighboring gene netrin 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:96087614-96088118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:96088119-96088623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6813 Neighboring gene uncharacterized LOC105369919 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:96125327-96125544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6815

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14528, DKFZp434D0127

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables cysteine-type deubiquitinase activity TAS
    Traceable Author Statement
    more info
     
    enables deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables deubiquitinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IC
    Inferred by Curator
    more info
    PubMed 
    is_active_in mitotic spindle IC
    Inferred by Curator
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 44
    Names
    deubiquitinating enzyme 44
    ubiquitin specific protease 44
    ubiquitin thioesterase 44
    ubiquitin thiolesterase 44
    ubiquitin-specific-processing protease 44
    NP_001035862.1
    NP_001265322.1
    NP_001334865.1
    NP_001334866.1
    NP_115523.2
    XP_005269229.1
    XP_005269230.1
    XP_005269231.1
    XP_011537102.1
    XP_011537103.1
    XP_011537104.1
    XP_011537105.1
    XP_011537106.1
    XP_011537107.1
    XP_011537108.1
    XP_047285598.1
    XP_047285599.1
    XP_047285600.1
    XP_047285601.1
    XP_047285602.1
    XP_047285603.1
    XP_054229381.1
    XP_054229382.1
    XP_054229383.1
    XP_054229384.1
    XP_054229385.1
    XP_054229386.1
    XP_054229387.1
    XP_054229388.1
    XP_054229389.1
    XP_054229390.1
    XP_054229391.1
    XP_054229392.1
    XP_054229393.1
    XP_054229394.1
    XP_054229395.1
    XP_054229396.1

    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_052622.1 RefSeqGene

      Range
      5054..39970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042403.3NP_001035862.1  ubiquitin carboxyl-terminal hydrolase 44

      See identical proteins and their annotated locations for NP_001035862.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the same protein as variants 1, 3, 4, and 6.
      Source sequence(s)
      AC018475, AK027434, AK315697, BM023146, DA092275, DB462518
      Consensus CDS
      CCDS9053.1
      UniProtKB/Swiss-Prot
      B2RDW3, Q9H0E7
      Related
      ENSP00000376806.2, ENST00000393091.6
      Conserved Domains (3) summary
      cl02553
      Location:274676
      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:272675
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    2. NM_001278393.2NP_001265322.1  ubiquitin carboxyl-terminal hydrolase 44

      See identical proteins and their annotated locations for NP_001265322.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the same protein as variants 1, 2, 5, and 6.
      Source sequence(s)
      AC018475, AK027434, AK315697, BM023146, DA092275, DB454726
      Consensus CDS
      CCDS9053.1
      UniProtKB/Swiss-Prot
      B2RDW3, Q9H0E7
      Related
      ENSP00000442629.2, ENST00000537435.2
      Conserved Domains (3) summary
      cl02553
      Location:274676
      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:272675
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    3. NM_001347936.2NP_001334865.1  ubiquitin carboxyl-terminal hydrolase 44

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) encodes the same protein as variants 1, 2, 3, and 6.
      Source sequence(s)
      AC018475
      Consensus CDS
      CCDS9053.1
      UniProtKB/Swiss-Prot
      B2RDW3, Q9H0E7
    4. NM_001347937.2NP_001334866.1  ubiquitin carboxyl-terminal hydrolase 44

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) encodes the same protein as variants 1, 2, 3, and 5.
      Source sequence(s)
      AC018475
      Consensus CDS
      CCDS9053.1
      UniProtKB/Swiss-Prot
      B2RDW3, Q9H0E7
    5. NM_032147.5NP_115523.2  ubiquitin carboxyl-terminal hydrolase 44

      See identical proteins and their annotated locations for NP_115523.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the same protein as variants 2, 3, 5, and 6.
      Source sequence(s)
      AC018475, AK315697, BM023146, DA092275, DB443014, DB456039
      Consensus CDS
      CCDS9053.1
      UniProtKB/Swiss-Prot
      B2RDW3, Q9H0E7
      Related
      ENSP00000258499.3, ENST00000258499.8
      Conserved Domains (3) summary
      cl02553
      Location:274676
      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:272675
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein

    RNA

    1. NR_125360.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is represented as non-coding because the use of the 5'-most supported translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC018475
    2. NR_144944.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018475
    3. NR_144945.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018475
    4. NR_144946.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018475
    5. NR_144947.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018475
    6. NR_144948.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018475

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      95516560..95551681 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429645.1XP_047285601.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X2

      UniProtKB/Swiss-Prot
      B2RDW3, Q9H0E7
    2. XM_011538803.1XP_011537105.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

      See identical proteins and their annotated locations for XP_011537105.1

      Conserved Domains (3) summary
      cl02553
      Location:274707
      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:272706
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    3. XM_005269172.2XP_005269229.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

      See identical proteins and their annotated locations for XP_005269229.1

      Conserved Domains (3) summary
      cl02553
      Location:274707
      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:272706
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    4. XM_047429643.1XP_047285599.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X2

      UniProtKB/Swiss-Prot
      B2RDW3, Q9H0E7
    5. XM_011538800.3XP_011537102.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

      See identical proteins and their annotated locations for XP_011537102.1

      Conserved Domains (3) summary
      cl02553
      Location:274707
      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:272706
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    6. XM_047429644.1XP_047285600.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X2

      UniProtKB/Swiss-Prot
      B2RDW3, Q9H0E7
    7. XM_011538805.3XP_011537107.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

      See identical proteins and their annotated locations for XP_011537107.1

      Conserved Domains (3) summary
      cl02553
      Location:274707
      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:272706
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    8. XM_005269174.2XP_005269231.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

      See identical proteins and their annotated locations for XP_005269231.1

      Conserved Domains (3) summary
      cl02553
      Location:274707
      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:272706
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    9. XM_047429642.1XP_047285598.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X2

      UniProtKB/Swiss-Prot
      B2RDW3, Q9H0E7
    10. XM_011538802.2XP_011537104.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

      See identical proteins and their annotated locations for XP_011537104.1

      Conserved Domains (3) summary
      cl02553
      Location:274707
      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:272706
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    11. XM_011538801.2XP_011537103.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

      See identical proteins and their annotated locations for XP_011537103.1

      Conserved Domains (3) summary
      cl02553
      Location:274707
      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:272706
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    12. XM_011538804.3XP_011537106.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

      See identical proteins and their annotated locations for XP_011537106.1

      Conserved Domains (3) summary
      cl02553
      Location:274707
      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:272706
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    13. XM_005269173.2XP_005269230.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

      See identical proteins and their annotated locations for XP_005269230.1

      Conserved Domains (3) summary
      cl02553
      Location:274707
      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:272706
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein
    14. XM_047429646.1XP_047285602.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X4

      UniProtKB/TrEMBL
      F8VRI7
      Related
      ENSP00000448670.1, ENST00000552440.5
    15. XM_047429647.1XP_047285603.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X4

      UniProtKB/TrEMBL
      F8VRI7
    16. XM_011538806.3XP_011537108.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X3

      Conserved Domains (3) summary
      cd02257
      Location:421496
      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 ...
      cl02553
      Location:274438
      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 ...
      pfam02148
      Location:2990
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein

    RNA

    1. XR_944757.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      95497607..95532730 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373417.1XP_054229392.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X2

    2. XM_054373413.1XP_054229388.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

    3. XM_054373406.1XP_054229381.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

    4. XM_054373418.1XP_054229393.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X2

    5. XM_054373410.1XP_054229385.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

    6. XM_054373416.1XP_054229391.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X2

    7. XM_054373414.1XP_054229389.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

    8. XM_054373408.1XP_054229383.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

    9. XM_054373415.1XP_054229390.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X2

    10. XM_054373409.1XP_054229384.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

    11. XM_054373411.1XP_054229386.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

    12. XM_054373407.1XP_054229382.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

    13. XM_054373412.1XP_054229387.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X1

    14. XM_054373420.1XP_054229395.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X4

    15. XM_054373421.1XP_054229396.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X4

    16. XM_054373419.1XP_054229394.1  ubiquitin carboxyl-terminal hydrolase 44 isoform X3

    RNA

    1. XR_008488692.1 RNA Sequence