LONRF1

Summary

LONRF1 (LON peptidase N-terminal domain and ring finger 1, HGNC:26302) is a protein-coding gene on chromosome 8p23.1, encoding LON peptidase N-terminal domain and RING finger protein 1 (Q17RB8).

Predicted to enable zinc ion binding activity. Predicted to be located in cytosol.

Source: NCBI Gene 91694 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 126 total
• MANE Select transcript: NM_152271

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26302
Approved symbol	LONRF1
Name	LON peptidase N-terminal domain and ring finger 1
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23749, RNF191
Ensembl gene	ENSG00000154359
Ensembl biotype	protein_coding
Entrez	91694

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000398246, ENST00000524526, ENST00000525024, ENST00000526610, ENST00000526680, ENST00000527055, ENST00000530693, ENST00000533751, ENST00000534446, ENST00000920355, ENST00000951800

RefSeq mRNA: 2 — MANE Select: NM_152271 NM_001329976, NM_152271

CCDS: CCDS5987

Canonical transcript exons

ENST00000398246 — 12 exons

Exon	Start	End
ENSE00001930562	12721906	12723254
ENSE00002178941	12754700	12755526
ENSE00003469554	12743164	12743282
ENSE00003481974	12735286	12735400
ENSE00003504908	12736701	12736797
ENSE00003506133	12729174	12729332
ENSE00003510383	12736900	12737140
ENSE00003514760	12731736	12731857
ENSE00003582656	12737995	12738144
ENSE00003680674	12728901	12729063
ENSE00003686837	12740874	12740996
ENSE00003689936	12725727	12725879

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3616 / max 168.0862, expressed in 1535 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91909	5.3616	1535

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of leg	UBERON:0001511	97.78	gold quality
zone of skin	UBERON:0000014	97.66	gold quality
skin of abdomen	UBERON:0001416	97.47	gold quality
mucosa of stomach	UBERON:0001199	96.32	gold quality
tibial nerve	UBERON:0001323	94.73	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.67	gold quality
lower esophagus	UBERON:0013473	94.62	gold quality
left ovary	UBERON:0002119	94.33	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.17	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.16	gold quality
ovary	UBERON:0000992	94.00	gold quality
popliteal artery	UBERON:0002250	93.88	gold quality
tibial artery	UBERON:0007610	93.88	gold quality
right ovary	UBERON:0002118	93.78	gold quality
left uterine tube	UBERON:0001303	93.26	gold quality
ventricular zone	UBERON:0003053	93.05	gold quality
adipose tissue	UBERON:0001013	93.03	gold quality
calcaneal tendon	UBERON:0003701	92.61	gold quality
right testis	UBERON:0004534	92.57	gold quality
endocervix	UBERON:0000458	92.29	gold quality
ectocervix	UBERON:0012249	92.18	gold quality
left testis	UBERON:0004533	92.10	gold quality
fallopian tube	UBERON:0003889	92.09	gold quality
ganglionic eminence	UBERON:0004023	91.95	gold quality
endometrium	UBERON:0001295	91.87	gold quality
omental fat pad	UBERON:0010414	91.71	gold quality
vagina	UBERON:0000996	91.56	gold quality
body of uterus	UBERON:0009853	91.53	gold quality
testis	UBERON:0000473	91.51	gold quality
gastrocnemius	UBERON:0001388	91.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.60

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

130 targeting LONRF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-5688	99.96	73.23	4504

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	lonrf1	ENSDARG00000078567
mus_musculus	Lonrf1	ENSMUSG00000039633
rattus_norvegicus	Lonrf1	ENSRNOG00000053706
drosophila_melanogaster	CG32369	FBGN0052369
caenorhabditis_elegans		WBGENE00011365

Paralogs (2): LONRF2 (ENSG00000170500), LONRF3 (ENSG00000175556)

Protein

Protein identifiers

LON peptidase N-terminal domain and RING finger protein 1 — Q17RB8 (reviewed: Q17RB8)

Alternative names: RING finger protein 191

All UniProt accessions (5): Q17RB8, A0A0C4DGE8, E9PQH4, E9PRX6, H7C5V9

Isoforms (2)

UniProt ID	Names	Canonical?
Q17RB8-1	1	yes
Q17RB8-2	2

RefSeq proteins (2): NP_001316905, NP_689484* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR003111	Lon_prtase_N	Domain
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR015947	PUA-like_sf	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR018957	Znf_C3HC4_RING-type	Domain
IPR019734	TPR_rpt	Repeat
IPR046336	Lon_prtase_N_sf	Homologous_superfamily

Pfam: PF00097, PF02190, PF13923

UniProt features (16 total): repeat 4, sequence conflict 2, zinc finger region 2, region of interest 2, chain 1, compositionally biased region 1, modified residue 1, splice variant 1, sequence variant 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q17RB8-F1	73.38	0.41

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 431

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 149 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, AAGCCAT_MIR135A_MIR135B, CAGCTG_AP4_Q5, WANG_LMO4_TARGETS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, TGCCTTA_MIR124A, TTTGCAC_MIR19A_MIR19B, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY

GO Biological Process (0):

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
transition metal ion binding	1
binding	1
cation binding	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

652 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LONRF1	C8orf48	Q96LL4	538
LONRF1	WDR76	Q9H967	456
LONRF1	WDR75	Q8IWA0	452
LONRF1	THYN1	Q9P016	447
LONRF1	TRMT9B	Q9P272	432
LONRF1	TP53TG5	Q9Y2B4	410
LONRF1	PURG	Q9UJV8	382
LONRF1	TTI2	Q6NXR4	379
LONRF1	TEF	Q10587	366
LONRF1	NEIL1	Q96FI4	358
LONRF1	TRMT13	Q9NUP7	357
LONRF1	PNMA8A	Q86V59	330
LONRF1	ZGRF1	Q86YA3	326
LONRF1	TM6SF1	Q9BZW5	320
LONRF1	FLYWCH1	Q4VC44	315
LONRF1	EME2	A4GXA9	315

IntAct

337 interactions, top by confidence:

A	B	Type	Score
LONRF1	UBE2L6	psi-mi:“MI:0915”(physical association)	0.780
XIAP	LONRF1	psi-mi:“MI:0915”(physical association)	0.780
GORASP2	LONRF1	psi-mi:“MI:0915”(physical association)	0.780
LONRF1	XIAP	psi-mi:“MI:0915”(physical association)	0.780
LONRF1	GORASP2	psi-mi:“MI:0915”(physical association)	0.780
TRIM42	LONRF1	psi-mi:“MI:0915”(physical association)	0.720
LONRF1	BYSL	psi-mi:“MI:0915”(physical association)	0.720
LONRF1	TRIM42	psi-mi:“MI:0915”(physical association)	0.720
LONRF1	STAU1	psi-mi:“MI:0915”(physical association)	0.720
LONRF1	ALAS1	psi-mi:“MI:0915”(physical association)	0.720
KRT31	LONRF1	psi-mi:“MI:0915”(physical association)	0.720
EFHC2	LONRF1	psi-mi:“MI:0915”(physical association)	0.720
ADAMTSL4	LONRF1	psi-mi:“MI:0915”(physical association)	0.720
KCTD9	LONRF1	psi-mi:“MI:0915”(physical association)	0.720
LONRF1	IHO1	psi-mi:“MI:0915”(physical association)	0.720
LONRF1	GORASP1	psi-mi:“MI:0915”(physical association)	0.720
BYSL	LONRF1	psi-mi:“MI:0915”(physical association)	0.720
STAU1	LONRF1	psi-mi:“MI:0915”(physical association)	0.720
ALAS1	LONRF1	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (128): LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid), LONRF1 (Two-hybrid)

ESM2 similar proteins: A0P9L2, A4D1P6, A9JTG5, B2RYI0, B8JKF4, D4A7V9, F1LW30, O08721, O08722, O14976, P0CI65, P57075, P97874, Q08AV8, Q14689, Q17QN2, Q17RB8, Q1L5Z9, Q1LXR6, Q1LXZ7, Q2HJE1, Q2I6J0, Q32PH0, Q3U0M1, Q3UH60, Q501X6, Q568P9, Q5R6T6, Q5RAR6, Q5RB40, Q5ZLL7, Q6DE55, Q6TEN6, Q6UXZ4, Q6ZN44, Q6ZPG2, Q7T2Z5, Q7TMQ7, Q8BWT5, Q8IZJ1

Diamond homologs: A0JPQ4, A6QQX5, D3YY23, D3Z8N2, F6ZQ54, F8S122, O00478, O00481, O60858, O75677, P18892, P82885, P83234, Q13410, Q14258, Q17RB8, Q1XH17, Q1XH18, Q27J48, Q2XXL4, Q32L60, Q503I2, Q5EBN2, Q5M7V1, Q5R846, Q5R996, Q5TA31, Q5ZMD4, Q61510, Q62556, Q640S6, Q6PGR9, Q6QA27, Q6UX41, Q6UXG8, Q6ZMU5, Q7SZN2, Q7T308, Q7TST0, Q810I1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	LONRF1	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 81 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Keratinization	8	8.9×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	109
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1998 predictions. Top by Δscore:

Variant	Effect	Δscore
8:12725721:CCATA:C	donor_loss	1.0000
8:12725722:CATA:C	donor_loss	1.0000
8:12725723:ATAC:A	donor_loss	1.0000
8:12725724:TAC:T	donor_loss	1.0000
8:12725725:A:C	donor_loss	1.0000
8:12725726:C:A	donor_loss	1.0000
8:12725876:CAAC:C	acceptor_gain	1.0000
8:12725877:AACC:A	acceptor_loss	1.0000
8:12725878:ACCTA:A	acceptor_loss	1.0000
8:12725879:CCTAG:C	acceptor_loss	1.0000
8:12725880:CTAG:C	acceptor_loss	1.0000
8:12728911:T:TA	donor_gain	1.0000
8:12729061:AAA:A	acceptor_gain	1.0000
8:12729062:AA:A	acceptor_gain	1.0000
8:12729064:C:CC	acceptor_gain	1.0000
8:12729168:GCATA:G	donor_loss	1.0000
8:12729170:ATAC:A	donor_loss	1.0000
8:12729171:TAC:T	donor_loss	1.0000
8:12729172:A:AG	donor_loss	1.0000
8:12729296:CATAG:C	acceptor_gain	1.0000
8:12729328:TCAAG:T	acceptor_gain	1.0000
8:12729329:CAAG:C	acceptor_gain	1.0000
8:12729329:CAAGC:C	acceptor_gain	1.0000
8:12729330:AAG:A	acceptor_gain	1.0000
8:12729331:AG:A	acceptor_gain	1.0000
8:12729332:GCTA:G	acceptor_loss	1.0000
8:12729333:C:CC	acceptor_gain	1.0000
8:12729333:C:T	acceptor_loss	1.0000
8:12731734:A:AC	donor_gain	1.0000
8:12731735:C:CC	donor_gain	1.0000

AlphaMissense

4985 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:12723224:A:G	W732R	1.000
8:12723224:A:T	W732R	1.000
8:12723227:A:G	W731R	1.000
8:12723227:A:T	W731R	1.000
8:12728941:C:T	G657E	1.000
8:12728995:A:T	V639D	1.000
8:12729002:A:G	S637P	1.000
8:12729007:C:A	G635V	1.000
8:12729007:C:T	G635E	1.000
8:12729234:C:G	R596P	1.000
8:12729245:T:A	R592S	1.000
8:12729245:T:G	R592S	1.000
8:12729246:C:G	R592T	1.000
8:12729260:A:C	F587L	1.000
8:12729260:A:T	F587L	1.000
8:12729262:A:G	F587L	1.000
8:12729262:A:T	F587I	1.000
8:12729268:G:C	H585D	1.000
8:12729270:A:G	L584P	1.000
8:12729270:A:T	L584H	1.000
8:12729308:A:C	F571L	1.000
8:12729308:A:T	F571L	1.000
8:12729309:A:G	F571S	1.000
8:12729310:A:G	F571L	1.000
8:12735313:A:C	C513W	1.000
8:12735314:C:T	C513Y	1.000
8:12735315:A:G	C513R	1.000
8:12735346:A:C	C502W	1.000
8:12735348:A:G	C502R	1.000
8:12735355:A:C	C499W	1.000

dbSNP variants (sampled 300 via entrez): RS1000102003 (8:12738697 A>T), RS1000117366 (8:12724144 G>A), RS1000128038 (8:12746092 C>A), RS1000220036 (8:12733715 A>C), RS1000261202 (8:12743044 C>A,T), RS1000305558 (8:12724756 G>A), RS1000351396 (8:12733531 T>A,C), RS1000457432 (8:12724522 A>G), RS1000533332 (8:12751303 T>A,G), RS1000665083 (8:12738467 G>A), RS1000687557 (8:12756013 G>C), RS1000721249 (8:12725269 T>C), RS1000823368 (8:12755896 T>G), RS1000846728 (8:12754803 C>A,G,T), RS1000877666 (8:12754940 G>A,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

3 associations (top):

Study	Trait	p-value
GCST002415_1	Colorectal cancer (diet interaction)	2.000000e-06
GCST010241_231	Apolipoprotein A1 levels	2.000000e-09
GCST010242_142	HDL cholesterol levels	3.000000e-12

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	3
sodium arsenite	decreases expression, increases expression	2
Benzo(a)pyrene	increases methylation, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression, increases methylation	1
arsenite	affects expression	1
butyraldehyde	decreases expression	1
diallyl trisulfide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
K 7174	increases expression	1
clothianidin	increases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Vehicle Emissions	increases methylation	1
Cisplatin	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Fluoxetine	increases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Nickel	decreases expression	1
Niclosamide	increases expression	1
Quercetin	decreases expression	1

Clinical trials (associated diseases)

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