USP17L23

Summary

USP17L23 (ubiquitin specific peptidase 17 like family member 23, HGNC:44451) is a protein-coding gene on chromosome 4p16.1, encoding Ubiquitin carboxyl-terminal hydrolase 17-like protein 23 (D6RBM5).

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination. Predicted to be located in endoplasmic reticulum and nucleus.

Source: NCBI Gene 101241878 — RefSeq curated summary.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44451
Approved symbol	USP17L23
Name	ubiquitin specific peptidase 17 like family member 23
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000250913
Ensembl biotype	protein_coding
Entrez	101241878

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000506619

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000506619 — 1 exons

Exon	Start	End
ENSE00002082268	9272364	9272914

Expression profiles

Bgee: expression breadth broad, 34 present calls, max score 91.83.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.83	gold quality
sural nerve	UBERON:0015488	68.68	gold quality
bone marrow cell	CL:0002092	43.04	gold quality
colonic epithelium	UBERON:0000397	41.22	gold quality
cortical plate	UBERON:0005343	40.32	silver quality
skeletal muscle tissue	UBERON:0001134	38.41	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	35.26	gold quality
muscle tissue	UBERON:0002385	34.76	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
monocyte	CL:0000576	32.07	gold quality
leukocyte	CL:0000738	31.67	gold quality
fundus of stomach	UBERON:0001160	31.49	gold quality
urinary bladder	UBERON:0001255	30.15	gold quality
prefrontal cortex	UBERON:0000451	29.90	silver quality
gall bladder	UBERON:0002110	29.90	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
tonsil	UBERON:0002372	28.61	gold quality
duodenum	UBERON:0002114	28.14	gold quality
blood	UBERON:0000178	27.98	gold quality
lymph node	UBERON:0000029	27.57	gold quality
primary visual cortex	UBERON:0002436	27.29	gold quality
uterine cervix	UBERON:0000002	27.21	silver quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
pancreas	UBERON:0001264	26.29	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
frontal cortex	UBERON:0001870	25.14	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

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

Ubiquitin carboxyl-terminal hydrolase 17-like protein 23 — D6RBM5 (reviewed: D6RBM5)

All UniProt accessions (1): D6RBM5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus. Endoplasmic reticulum.

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

RefSeq proteins (0): (*=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 (3 total): chain 1, domain 1, non-terminal residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-D6RBM5-F1	71.58	0.49

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 10 (showing top): GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, chr4p16, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOMF_PEPTIDASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_PEPTIDASE_ACTIVITY, ZBTB12_TARGET_GENES, ZNF618_TARGET_GENES, GOBP_PROTEIN_MODIFICATION_PROCESS, GOMF_DEUBIQUITINASE_ACTIVITY

GO Biological Process (1): protein deubiquitination (GO:0016579)

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

GO Cellular Component (2): nucleus (GO:0005634), endoplasmic reticulum (GO:0005783)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
cysteine-type peptidase activity	1
deubiquitinase activity	1
cytoplasm	1
endomembrane system	1

Protein interactions and networks

STRING

10 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
USP17L23	DEFB113	Q30KQ7	577
USP17L23	CT47A11	Q5JQC4	506
USP17L23	CNMD	O75829	313
USP17L23	DMBT1	Q9UGM3	298
USP17L23	GP6	Q9HCN6	213

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

122 predictions. Top by Δscore:

Variant	Effect	Δscore
4:9272558:G:GT	donor_gain	0.9000
4:9272571:C:CG	donor_gain	0.9000
4:9272571:C:G	donor_gain	0.8600
4:9272478:G:GC	acceptor_gain	0.7900
4:9272650:A:AG	acceptor_gain	0.7800
4:9272651:G:GG	acceptor_gain	0.7800
4:9272582:G:GT	donor_gain	0.7000
4:9272630:C:G	donor_gain	0.6900
4:9272576:T:TA	donor_gain	0.6400
4:9272577:A:AA	donor_gain	0.6400
4:9272539:C:T	donor_gain	0.6200
4:9272631:T:TA	acceptor_gain	0.6200
4:9272632:A:AA	acceptor_gain	0.6200
4:9272390:AG:A	donor_loss	0.6100
4:9272391:GGTG:G	donor_loss	0.6100
4:9272392:G:C	donor_loss	0.6100
4:9272393:T:G	donor_loss	0.6100
4:9272394:GAGTG:G	donor_loss	0.6000
4:9272501:G:GT	donor_gain	0.5900
4:9272389:GAG:G	donor_gain	0.5800
4:9272477:TG:T	acceptor_gain	0.5800
4:9272496:T:G	donor_gain	0.5500
4:9272583:A:T	donor_gain	0.5400
4:9272651:GT:G	acceptor_gain	0.5400
4:9272388:GGAG:G	donor_gain	0.5300
4:9272389:GAGG:G	donor_gain	0.5300
4:9272396:G:C	donor_loss	0.5300
4:9272387:GGGAG:G	donor_gain	0.5100
4:9272388:GGAGG:G	donor_gain	0.5100
4:9272392:G:GG	donor_gain	0.5100

AlphaMissense

1191 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:9272853:T:C	F164L	0.988
4:9272855:T:A	F164L	0.988
4:9272855:T:G	F164L	0.988
4:9272820:T:C	F153L	0.976
4:9272822:C:A	F153L	0.976
4:9272822:C:G	F153L	0.976
4:9272843:T:A	D160E	0.972
4:9272843:T:G	D160E	0.972
4:9272862:T:C	F167L	0.972
4:9272864:C:A	F167L	0.972
4:9272864:C:G	F167L	0.972
4:9272615:T:A	N84K	0.971
4:9272615:T:G	N84K	0.971
4:9272854:T:C	F164S	0.960
4:9272652:T:C	C97R	0.957
4:9272837:G:C	Q158H	0.956
4:9272837:G:T	Q158H	0.956
4:9272651:G:C	Q96H	0.952
4:9272651:G:T	Q96H	0.952
4:9272842:A:C	D160A	0.952
4:9272842:A:T	D160V	0.950
4:9272639:C:A	N92K	0.948
4:9272639:C:G	N92K	0.948
4:9272841:G:C	D160H	0.947
4:9272614:A:C	N84T	0.946
4:9272647:T:C	L95S	0.942
4:9272654:C:G	C97W	0.942
4:9272624:T:A	N87K	0.936
4:9272624:T:G	N87K	0.936
4:9272613:A:C	N84H	0.934

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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
2-palmitoylglycerol	increases expression	1

Clinical trials (associated diseases)

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