USP38 ubiquitin specific peptidase 38 [Homo sapiens (human)] - Gene

Summary

Official Symbol: USP38provided by HGNC
Official Full Name: ubiquitin specific peptidase 38provided by HGNC
Primary source: HGNC:HGNC:20067
See related: Ensembl:ENSG00000170185 MIM:618322; AllianceGenome:HGNC:20067
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: HP43.8KD
Summary: Enables cysteine-type deubiquitinase activity and protein sequestering activity. Involved in negative regulation of innate immune response; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and protein K33-linked deubiquitination. Is active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 7.3), colon (RPKM 5.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.21

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (143184917..143223874)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (146502094..146541045)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (144106070..144145027)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ubiquitin specific peptidase 38 epigenetically regulates KLF transcription factor 5 to augment malignant progression of lung adenocarcinoma.
Title: Ubiquitin specific peptidase 38 epigenetically regulates KLF transcription factor 5 to augment malignant progression of lung adenocarcinoma.
USP38 promotes deubiquitination of K11-linked polyubiquitination of HIF1alpha at Lys769 to enhance hypoxia signaling.
Title: USP38 promotes deubiquitination of K11-linked polyubiquitination of HIF1α at Lys769 to enhance hypoxia signaling.
USP38 regulates inflammatory cardiac remodeling after myocardial infarction.
Title: USP38 regulates inflammatory cardiac remodeling after myocardial infarction.
USP38 inhibits colorectal cancer cell proliferation and migration via downregulating HMX3 ubiquitylation.
Title: USP38 inhibits colorectal cancer cell proliferation and migration via downregulating HMX3 ubiquitylation.
Reciprocal regulation of IL-33 receptor-mediated inflammatory response and pulmonary fibrosis by TRAF6 and USP38.
Title: Reciprocal regulation of IL-33 receptor-mediated inflammatory response and pulmonary fibrosis by TRAF6 and USP38.
USP38 might be a new therapeutic target for glioma via regulation of cancer cell metastasis.
Title: USP38 might be a new therapeutic target for glioma via regulation of cancer cell metastasis.
The deubiquitinase USP38 promotes cell proliferation through stabilizing c-Myc.
Title: The deubiquitinase USP38 promotes cell proliferation through stabilizing c-Myc.
Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies.
Title: Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies.
The Deubiquitinase USP38 Promotes NHEJ Repair through Regulation of HDAC1 Activity and Regulates Cancer Cell Response to Genotoxic Insults.
Title: The Deubiquitinase USP38 Promotes NHEJ Repair through Regulation of HDAC1 Activity and Regulates Cancer Cell Response to Genotoxic Insults.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-36804 (e-PCR)
- UniSTS:36723

SHGC-50450 (e-PCR)
- UniSTS:2946

RH103667 (e-PCR)
- UniSTS:97992

SHGC-8628 (e-PCR)
- UniSTS:86255

SHGC-67679 (e-PCR)
- UniSTS:50427

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 deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein sequestering activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K33-linked deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein stability	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IC Inferred by Curator more info	PubMed

General protein information

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Preferred Names: ubiquitin carboxyl-terminal hydrolase 38

Names: deubiquitinating enzyme 38; ubiquitin specific protease 38; ubiquitin thioesterase 38; ubiquitin thiolesterase 38; ubiquitin-specific-processing protease 38

NP_001277254.1

EC 3.4.19.12

NP_001277255.1

EC 3.4.19.12

NP_001397777.1

EC 3.4.19.12

NP_115946.2

EC 3.4.19.12

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.

mRNA and Protein(s)

NM_001290325.1 → NP_001277254.1 ubiquitin carboxyl-terminal hydrolase 38 isoform 2

See identical proteins and their annotated locations for NP_001277254.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains a 3' terminal exon that extends past a splice site used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC099549, BC039115

Consensus CDS

CCDS77964.1

UniProtKB/Swiss-Prot

Q8NB14

Related

ENSP00000427647.1, ENST00000510377.5

Conserved Domains (2) summary

cd02664
Location:446 → 947

Peptidase_C19H; 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:445 → 946

UCH; Ubiquitin carboxyl-terminal hydrolase
NM_001290326.1 → NP_001277255.1 ubiquitin carboxyl-terminal hydrolase 38 isoform 3

See identical proteins and their annotated locations for NP_001277255.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC099549, AK057992, AK093289, AK093754, BC039115

UniProtKB/Swiss-Prot

Q8NB14

UniProtKB/TrEMBL

B3KSB9

Conserved Domains (2) summary

cd02664
Location:1 → 492

Peptidase_C19H; 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:1 → 491

UCH; Ubiquitin carboxyl-terminal hydrolase
NM_001410848.1 → NP_001397777.1 ubiquitin carboxyl-terminal hydrolase 38 isoform 4

Status: VALIDATED

Source sequence(s)

AC099549, AC116175

Consensus CDS

CCDS93639.1

UniProtKB/TrEMBL

A0A804HIT0

Related

ENSP00000507210.1, ENST00000682469.2
NM_032557.6 → NP_115946.2 ubiquitin carboxyl-terminal hydrolase 38 isoform 1

See identical proteins and their annotated locations for NP_115946.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC099549, AK091712, BC039115, BG575871

Consensus CDS

CCDS3758.1

UniProtKB/Swiss-Prot

B3KX93, Q3ZCV1, Q8NB14, Q8NDF5, Q96DK6, Q96PZ6, Q9BY55

Related

ENSP00000303434.4, ENST00000307017.9

Conserved Domains (1) summary

cd02664
Location:446 → 947

Peptidase_C19H; 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 ...