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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
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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?

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)

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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.

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