USP17L7

Summary

USP17L7 (ubiquitin specific peptidase 17 like family member 7, HGNC:37180) is a protein-coding gene on chromosome 8p23.1, encoding Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7 (P0C7H9).

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 392197 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001256869

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37180
Approved symbol	USP17L7
Name	ubiquitin specific peptidase 17 like family member 7
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000226430
Ensembl biotype	protein_coding
Entrez	392197

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000530447

RefSeq mRNA: 1 — MANE Select: NM_001256869 NM_001256869

CCDS: CCDS78305

Canonical transcript exons

ENST00000530447 — 1 exons

Exon	Start	End
ENSE00002180313	12132417	12134099

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 63.83.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	63.83	silver quality
colonic epithelium	UBERON:0000397	46.14	gold quality
corpus callosum	UBERON:0002336	42.78	silver quality
bone marrow cell	CL:0002092	42.53	gold quality
stromal cell of endometrium	CL:0002255	40.11	gold quality
adrenal tissue	UBERON:0018303	39.77	silver quality
skeletal muscle tissue	UBERON:0001134	38.74	gold quality
ganglionic eminence	UBERON:0004023	37.37	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
muscle tissue	UBERON:0002385	36.38	gold quality
urinary bladder	UBERON:0001255	35.87	gold quality
tonsil	UBERON:0002372	35.31	gold quality
bone marrow	UBERON:0002371	35.00	gold quality
primary visual cortex	UBERON:0002436	34.25	gold quality
mucosa of stomach	UBERON:0001199	34.11	gold quality
right hemisphere of cerebellum	UBERON:0014890	33.64	gold quality
right uterine tube	UBERON:0001302	33.49	gold quality
cerebellum	UBERON:0002037	33.16	gold quality
cerebellar hemisphere	UBERON:0002245	33.01	gold quality
cerebellar cortex	UBERON:0002129	32.95	gold quality
monocyte	CL:0000576	32.85	gold quality
left ovary	UBERON:0002119	32.67	gold quality
uterine cervix	UBERON:0000002	32.59	gold quality
leukocyte	CL:0000738	32.37	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
right lung	UBERON:0002167	31.62	gold quality
liver	UBERON:0002107	30.57	gold quality
caudate nucleus	UBERON:0001873	30.13	silver quality
prefrontal cortex	UBERON:0000451	30.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.32

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 7 — P0C7H9 (reviewed: P0C7H9)

All UniProt accessions (1): P0C7H9

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_001243798* (*=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 (10 total): region of interest 3, compositionally biased region 3, sequence variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C7H9-F1	66.75	0.40

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 12 (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, PAX7_TARGET_GENES, 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)

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

82 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
USP17L7	FAM90A10	A6NDY2	720
USP17L7	DEFB108B	Q8NET1	579
USP17L7	DEFB107A	Q8IZN7	573
USP17L7	DEFB106A	Q8N104	505
USP17L7	DEFB105A	Q8NG35	491
USP17L7	PIP5KL1	Q5T9C9	448
USP17L7	PRR23B	Q6ZRT6	447
USP17L7	PRR23A	A6NEV1	446
USP17L7	PRR23D1	E9PI22	446
USP17L7	TMEM117	Q9H0C3	445
USP17L7	A0A0G2JN59	A0A0G2JN59	418
USP17L7	PRR23C	Q6ZRP0	391
USP17L7	USP53	Q70EK8	382
USP17L7	MIA2	Q96PC5	323
USP17L7	ARSD	P51689	306

IntAct

4 interactions, top by confidence:

A	B	Type	Score
USP17L7	USP26	psi-mi:“MI:0915”(physical association)	0.400
USP17L24	USP17L7	psi-mi:“MI:0914”(association)	0.350
USP17L2	USP17L7	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): USP17L7 (Affinity Capture-MS), USP17L7 (Affinity Capture-MS), ZKSCAN4 (Cross-Linking-MS (XL-MS)), USP17L7 (Affinity Capture-MS), USP17L7 (Affinity Capture-MS), USP17L7 (Affinity Capture-MS)

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: A1L1K8, A6NCW0, A6NCW7, A8MUK1, C9J2P7, C9JJH3, C9JLJ4, C9JPN9, C9JVI0, D6R901, D6R9N7, D6RA61, D6RBQ6, D6RCP7, D6RJB6, G1SW77, P0C7H9, P0C7I0, Q0WX57, Q5JVS0, Q5XJA5, Q6AXS5, Q6NRY1, Q6PB22, Q6R6M4, Q7RTZ2, Q8NC51, Q9CY58, Q9I9R0, Q9JKS5, B1AQJ2, B2RQC2, B3M3M6, B3NC86, B4HUI5, B4IXE0, B4KXJ5, B4LG38, B4MLR8, B4PIW8

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

22 predictions. Top by Δscore:

Variant	Effect	Δscore
8:12134016:C:CT	acceptor_gain	0.4400
8:12133937:GCC:G	acceptor_gain	0.3700
8:12133801:A:AC	donor_gain	0.3400
8:12133814:C:CA	donor_gain	0.3300
8:12133938:C:A	acceptor_gain	0.3200
8:12133935:TA:T	acceptor_gain	0.3100
8:12134050:C:CT	acceptor_gain	0.2900
8:12133722:C:CC	acceptor_gain	0.2800
8:12133802:G:C	donor_gain	0.2800
8:12133936:AGC:A	acceptor_gain	0.2800
8:12134075:C:G	acceptor_gain	0.2700
8:12133740:A:AT	acceptor_gain	0.2400
8:12133741:T:TT	acceptor_gain	0.2400
8:12133721:A:AC	acceptor_gain	0.2300
8:12134016:C:T	acceptor_gain	0.2300
8:12132792:T:A	donor_gain	0.2200
8:12132892:A:C	acceptor_gain	0.2200
8:12133506:A:T	acceptor_gain	0.2200
8:12134077:T:G	acceptor_gain	0.2200
8:12132892:A:AC	acceptor_gain	0.2100
8:12132883:CTCTT:C	acceptor_gain	0.2000
8:12132888:C:CC	acceptor_gain	0.2000

AlphaMissense

3498 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:12133518:A:C	F164L	0.851
8:12133518:A:T	F164L	0.851
8:12133520:A:G	F164L	0.851
8:12133161:G:C	F283L	0.811
8:12133161:G:T	F283L	0.811
8:12133163:A:G	F283L	0.811
8:12133551:G:C	F153L	0.772
8:12133551:G:T	F153L	0.772
8:12133553:A:G	F153L	0.772
8:12132897:A:C	F371L	0.740
8:12132897:A:T	F371L	0.740
8:12132899:A:G	F371L	0.740
8:12133509:A:C	F167L	0.738
8:12133509:A:T	F167L	0.738
8:12133511:A:G	F167L	0.738
8:12133419:A:C	F197L	0.725
8:12133419:A:T	F197L	0.725
8:12133421:A:G	F197L	0.725
8:12132974:A:G	W346R	0.614
8:12132974:A:T	W346R	0.614
8:12133968:G:C	F14L	0.565
8:12133968:G:T	F14L	0.565
8:12133970:A:G	F14L	0.565

dbSNP variants (sampled 300 via entrez): RS1001819009 (8:7337154 T>C), RS1002084764 (8:7336761 C>G,T), RS1003898352 (8:7335661 T>C), RS1005657151 (8:7338314 C>G), RS1006041695 (8:7338951 G>A), RS1006694004 (8:12132654 G>A), RS1007747066 (8:7335975 G>A), RS1011227128 (8:12134667 C>A), RS1011427817 (8:12135932 C>T), RS1011825312 (8:7336616 GA>G), RS1012879915 (8:7335558 C>T), RS1017268571 (8:7335985 G>A,T), RS1017737846 (8:7336257 C>G,T), RS1018325854 (8:7338968 G>A), RS1021219219 (8:12134703 A>G,T)

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)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	1
pentanal	increases expression	1
abrine	increases expression	1
Thiram	increases expression	1

Clinical trials (associated diseases)

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