USP17L8

Summary

USP17L8 (ubiquitin specific peptidase 17 like family member 8, HGNC:37181) is a protein-coding gene on chromosome 8p23.1, encoding Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8 (P0C7I0).

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus.

Source: NCBI Gene 392188 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001256872

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37181
Approved symbol	USP17L8
Name	ubiquitin specific peptidase 17 like family member 8
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000237038
Ensembl biotype	protein_coding
Entrez	392188

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000527080

RefSeq mRNA: 1 — MANE Select: NM_001256872 NM_001256872

CCDS: CCDS78300

Canonical transcript exons

ENST00000527080 — 1 exons

Exon	Start	End
ENSE00002198101	7971661	7973253

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 41.83.

Top tissues by expression

127 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	41.83	gold quality
sural nerve	UBERON:0015488	40.55	gold quality
stromal cell of endometrium	CL:0002255	40.03	gold quality
cortical plate	UBERON:0005343	39.84	gold quality
ganglionic eminence	UBERON:0004023	39.38	silver quality
bone marrow cell	CL:0002092	38.35	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.86	gold quality
tonsil	UBERON:0002372	32.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
prefrontal cortex	UBERON:0000451	29.21	gold quality
liver	UBERON:0002107	29.03	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
primary visual cortex	UBERON:0002436	27.51	gold quality
placenta	UBERON:0001987	27.30	gold quality
leukocyte	CL:0000738	27.13	gold quality
monocyte	CL:0000576	27.08	gold quality
islet of Langerhans	UBERON:0000006	26.91	gold quality
urinary bladder	UBERON:0001255	26.75	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.15	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
muscle of leg	UBERON:0001383	25.19	gold quality
pancreas	UBERON:0001264	24.26	gold quality
frontal cortex	UBERON:0001870	24.25	gold quality
right adrenal gland cortex	UBERON:0035827	24.25	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.20

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (71): USP2 (ENSG00000036672), USP28 (ENSG00000048028), USP36 (ENSG00000055483), USP13 (ENSG00000058056), USP33 (ENSG00000077254), USP40 (ENSG00000085982), USP48 (ENSG00000090686), USP14 (ENSG00000101557), USP11 (ENSG00000102226), USP10 (ENSG00000103194), USP31 (ENSG00000103404), USP42 (ENSG00000106346), USP5 (ENSG00000111667), USP4 (ENSG00000114316), USP9Y (ENSG00000114374), USP34 (ENSG00000115464), USP35 (ENSG00000118369), USP45 (ENSG00000123552), USP22 (ENSG00000124422), USP9X (ENSG00000124486), USP6 (ENSG00000129204), USP29 (ENSG00000131864), USP26 (ENSG00000134588), USP30 (ENSG00000135093), USP15 (ENSG00000135655), USP37 (ENSG00000135913), USP44 (ENSG00000136014), USP20 (ENSG00000136878), USP8 (ENSG00000138592), USP3 (ENSG00000140455), USP21 (ENSG00000143258), USP43 (ENSG00000154914), USP25 (ENSG00000155313), USP16 (ENSG00000156256), USP24 (ENSG00000162402), USP1 (ENSG00000162607), USP49 (ENSG00000164663), USP38 (ENSG00000170185), USP50 (ENSG00000170236), USP47 (ENSG00000170242)

Protein

Protein identifiers

Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8 — P0C7I0 (reviewed: P0C7I0)

All UniProt accessions (1): P0C7I0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus. Endoplasmic reticulum.

Similarity. Belongs to the peptidase C19 family. USP17 subfamily.

RefSeq proteins (1): NP_001243801* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001394	Peptidase_C19_UCH	Domain
IPR018200	USP_CS	Conserved_site
IPR028889	USP	Domain
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily
IPR050164	Peptidase_C19	Family

Pfam: PF00443

UniProt features (7 total): compositionally biased region 3, region of interest 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C7I0-F1	67.51	0.46

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5689880	Ub-specific processing proteases

MSigDB gene sets: 14 (showing top): GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_PEPTIDASE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, REACTOME_DEUBIQUITINATION, REACTOME_UB_SPECIFIC_PROCESSING_PROTEASES, GOBP_REGULATION_OF_PROGRAMMED_CELL_DEATH, GOBP_PROTEIN_MODIFICATION_PROCESS, GOMF_DEUBIQUITINASE_ACTIVITY, chr8p23

GO Biological Process (4): proteolysis (GO:0006508), protein deubiquitination (GO:0016579), regulation of protein stability (GO:0031647), regulation of apoptotic process (GO:0042981)

GO Molecular Function (1): cysteine-type deubiquitinase activity (GO:0004843)

GO Cellular Component (3): nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Deubiquitination	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
cytoplasm	2
protein metabolic process	1
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
regulation of biological quality	1
apoptotic process	1
regulation of programmed cell death	1
cysteine-type peptidase activity	1
deubiquitinase activity	1
endomembrane system	1
cellular anatomical structure	1

Protein interactions and networks

STRING

74 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
USP17L8	DEFB108B	Q8NET1	448
USP17L8	DEFB107A	Q8IZN7	447
USP17L8	A0A0G2JN59	A0A0G2JN59	397
USP17L8	DEFB106A	Q8N104	392
USP17L8	DEFB105A	Q8NG35	389
USP17L8	NUP37	Q8NFH4	349
USP17L8	DEFB104A	Q8WTQ1	311
USP17L8	LAMTOR1	Q6IAA8	275
USP17L8	MACROH2A1	O75367	254
USP17L8	RCE1	Q9Y256	209
USP17L8	SEPTIN9	Q9UHD8	208
USP17L8	ZUP1	Q96AP4	204
USP17L8	DEFB103A	P81534	199
USP17L8	RPRD1B	Q9NQG5	186
USP17L8	UQCRB	P14927	137

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A2A5N8, A6NCW0, A6NCW7, A8MUK1, B1AQJ2, B2RQC2, C9J2P7, C9JJH3, C9JLJ4, C9JPN9, C9JVI0, D3ZWK4, D6R901, D6R9N7, D6RA61, D6RBM5, D6RBQ6, D6RCP7, D6RJB6, E9Q9U0, G5E8G2, G5E8I7, O94966, P0C7H9, P0C7I0, P35125, P51784, Q0E2F9, Q0WX57, Q2TAC6, Q3UJD6, Q4KLL9, Q5R7G8, Q5TKR9, Q61068, Q66HE5, Q6J1Y9, Q6PFD6, Q6QN14, Q6R6M4

Diamond homologs: A0A0R4IB93, A0JM59, A5PMR2, A5PN09, A6NNY8, A6QNM7, A7Z056, B1AY13, B1WBD7, D2HBJ8, D6RBM5, E1C213, E7F6T8, E9Q9U0, F6Z5C0, F8VPU6, F8VPZ3, M9PD06, O00507, O22207, O60079, O74442, O94269, O94966, O96612, P0C7I0, P0C8Z3, P0CAQ1, P35125, P39538, P40453, P51784, P53874, P55824, P70398, Q01988, Q09738, Q0V9G5, Q28CN3, Q2HJE4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

104 predictions. Top by Δscore:

Variant	Effect	Δscore
8:7972152:AGG:A	donor_gain	0.4700
8:7971962:T:A	donor_gain	0.4400
8:7973138:T:TG	acceptor_gain	0.4400
8:7972269:TC:T	donor_gain	0.4300
8:7972270:CC:C	donor_gain	0.4300
8:7972127:CTCTT:C	acceptor_gain	0.4100
8:7972216:C:CT	donor_gain	0.4000
8:7973046:G:C	donor_gain	0.4000
8:7972136:A:C	acceptor_gain	0.3900
8:7972036:T:A	donor_gain	0.3700
8:7973045:A:AC	donor_gain	0.3700
8:7972104:T:TA	donor_gain	0.3600
8:7972132:C:CC	acceptor_gain	0.3600
8:7972136:A:AC	acceptor_gain	0.3600
8:7973058:C:CA	donor_gain	0.3500
8:7972108:A:AC	donor_gain	0.3400
8:7972109:C:CC	donor_gain	0.3400
8:7971976:TTCC:T	donor_gain	0.3300
8:7971879:GGGTA:G	donor_loss	0.3200
8:7971880:GGTA:G	donor_loss	0.3200
8:7971881:GTA:G	donor_loss	0.3200
8:7971882:TA:T	donor_loss	0.3200
8:7971883:ACCTT:A	donor_loss	0.3200
8:7971884:C:CT	donor_loss	0.3200
8:7972222:G:A	donor_gain	0.3200
8:7972510:T:A	donor_gain	0.3200
8:7973139:C:A	acceptor_gain	0.3200
8:7971885:CTTC:C	donor_loss	0.3100
8:7971774:AGTTC:A	acceptor_gain	0.3000
8:7971886:TTCA:T	donor_loss	0.3000

AlphaMissense

3505 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:7972663:A:C	F197L	0.959
8:7972663:A:T	F197L	0.959
8:7972665:A:G	F197L	0.959
8:7972762:A:C	F164L	0.927
8:7972762:A:T	F164L	0.927
8:7972764:A:G	F164L	0.927
8:7972795:G:C	F153L	0.922
8:7972795:G:T	F153L	0.922
8:7972797:A:G	F153L	0.922
8:7972141:A:C	F371L	0.904
8:7972141:A:T	F371L	0.904
8:7972143:A:G	F371L	0.904
8:7972405:G:C	F283L	0.896
8:7972405:G:T	F283L	0.896
8:7972407:A:G	F283L	0.896
8:7972667:A:T	I196K	0.892
8:7972218:A:G	W346R	0.878
8:7972218:A:T	W346R	0.878
8:7972753:G:C	F167L	0.873
8:7972753:G:T	F167L	0.873
8:7972755:A:G	F167L	0.873
8:7972664:A:C	F197C	0.868
8:7972667:A:C	I196R	0.830
8:7972664:A:G	F197S	0.828
8:7972665:A:T	F197I	0.796
8:7972558:A:C	S232R	0.792
8:7972558:A:T	S232R	0.792
8:7972560:T:G	S232R	0.792
8:7972216:C:A	W346C	0.783
8:7972216:C:G	W346C	0.783

dbSNP variants (sampled 300 via entrez): RS1005031588 (8:7972799 C>T), RS1015450215 (8:7972939 G>C), RS1051025708 (8:7973669 G>C), RS1053870155 (8:7975176 T>A), RS112464135 (8:7971306 G>A,C), RS112796125 (8:7973628 T>A), RS113338263 (8:7973667 C>G), RS1157028016 (8:7973912 A>G), RS1158472367 (8:7973062 G>A,C), RS1158959638 (8:7973644 T>C), RS1159446300 (8:7971769 T>G), RS1160589479 (8:7973048 G>A,C,T), RS1160795403 (8:7971936 G>A), RS1161975883 (8:7972074 G>C), RS1162011057 (8:7974225 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.