RNF148

Summary

RNF148 (ring finger protein 148, HGNC:22411) is a protein-coding gene on chromosome 7q31.32, encoding RING finger protein 148 (Q8N7C7).

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. Predicted to be located in membrane. Predicted to be active in Golgi apparatus; endoplasmic reticulum; and late endosome.

Source: NCBI Gene 378925 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_198085

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22411
Approved symbol	RNF148
Name	ring finger protein 148
Location	7q31.32
Locus type	gene with protein product
Status	Approved
Aliases	MGC35222
Ensembl gene	ENSG00000235631
Ensembl biotype	protein_coding
Entrez	378925

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000434824, ENST00000447240

RefSeq mRNA: 1 — MANE Select: NM_198085 NM_198085

CCDS: CCDS47692

Canonical transcript exons

ENST00000434824 — 1 exons

Exon	Start	End
ENSE00001616625	122701668	122702922

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 98.55.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0185 / max 13.0815, expressed in 4 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85952	0.0100	4
85951	0.0065	3
85953	0.0020	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	98.55	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	96.12	gold quality
left testis	UBERON:0004533	91.73	gold quality
right testis	UBERON:0004534	91.50	gold quality
testis	UBERON:0000473	89.01	gold quality
adult organism	UBERON:0007023	68.09	gold quality
secondary oocyte	CL:0000655	67.87	silver quality
adrenal tissue	UBERON:0018303	63.40	gold quality
calcaneal tendon	UBERON:0003701	57.40	gold quality
bone marrow cell	CL:0002092	57.38	gold quality
kidney epithelium	UBERON:0004819	55.02	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.95	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
epithelial cell of pancreas	CL:0000083	52.87	gold quality
tendon	UBERON:0000043	50.85	gold quality
cerebellar cortex	UBERON:0002129	50.82	gold quality
sural nerve	UBERON:0015488	50.77	gold quality
upper lobe of left lung	UBERON:0008952	50.62	gold quality
cerebellar hemisphere	UBERON:0002245	50.53	gold quality
myocardium	UBERON:0002349	50.51	gold quality
cerebellum	UBERON:0002037	50.08	gold quality
tonsil	UBERON:0002372	49.84	gold quality
right lung	UBERON:0002167	49.83	gold quality
upper lobe of lung	UBERON:0008948	49.65	gold quality
right hemisphere of cerebellum	UBERON:0014890	49.48	gold quality
mucosa of stomach	UBERON:0001199	49.45	gold quality
tibialis anterior	UBERON:0001385	49.19	silver quality
deltoid	UBERON:0001476	48.32	gold quality
minor salivary gland	UBERON:0001830	48.24	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting RNF148, 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-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-8054	99.48	70.81	2084
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-519A-2-5P	98.78	71.74	1401
HSA-MIR-520B-5P	98.78	71.74	1401
HSA-MIR-3161	98.71	67.14	816
HSA-MIR-1-5P	98.70	68.66	1017
HSA-MIR-12126	98.09	64.82	637
HSA-MIR-3132	97.96	67.91	711
HSA-MIR-4253	97.48	65.11	692
HSA-MIR-6862-5P	97.48	64.84	713
HSA-MIR-197-5P	97.23	68.10	596
HSA-MIR-1229-5P	94.57	65.78	487

Literature-anchored findings (GeneRIF, showing 2)

• We identified a novel human testicular interstitial gene and observed that histone deacetylases regulate RNF148 expression. (PMID:24089095)
• E3 ubiquitin ligase RNF148 functions as an oncogene in colorectal cancer by ubiquitination-mediated degradation of CHAC2. (PMID:38190483)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rnf148	ENSMUSG00000078179

Paralogs (9): RNF13 (ENSG00000082996), RNF215 (ENSG00000099999), ZNRF4 (ENSG00000105428), RNF167 (ENSG00000108523), RNF130 (ENSG00000113269), RNF128 (ENSG00000133135), RNF149 (ENSG00000163162), RNF150 (ENSG00000170153), RNF133 (ENSG00000188050)

Protein

Protein identifiers

RING finger protein 148 — Q8N7C7 (reviewed: Q8N7C7)

All UniProt accessions (2): C9JVJ0, Q8N7C7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Abundantly expressed in testis and slightly in pancreas. Mainly present in the interstitial cells of testicular tissues.

RefSeq proteins (1): NP_932351* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR003137	PA_domain	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR046450	PA_dom_sf	Homologous_superfamily
IPR051834	RING_finger_E3_ligase	Family

Pfam: PF02225, PF13639

UniProt features (8 total): signal peptide 1, chain 1, transmembrane region 1, domain 1, zinc finger region 1, glycosylation site 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7C7-F1	86.42	0.64

Functional residue map

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

Glycosylation sites (1): 43

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (1): ubiquitin-dependent protein catabolic process (GO:0006511)

GO Molecular Function (3): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), metal ion binding (GO:0046872)

GO Cellular Component (5): cytoplasm (GO:0005737), late endosome (GO:0005770), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
cation binding	1
intracellular anatomical structure	1
endosome	1

Protein interactions and networks

STRING

396 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF148	FAM24A	A6NFZ4	545
RNF148	RNF223	E7ERA6	507
RNF148	IQCF6	A8MYZ5	453
RNF148	PRR30	Q53SZ7	434
RNF148	CPXCR1	Q8N123	432
RNF148	RNFT1	Q5M7Z0	424
RNF148	AADACL4	Q5VUY2	422
RNF148	OR1C1	Q15619	419
RNF148	RNF151	Q2KHN1	405
RNF148	ZNF691	Q5VV52	399
RNF148	OR4M2	Q8NGB6	394
RNF148	CIMAP1D	Q3SX64	393
RNF148	FAM89B	Q8N5H3	393
RNF148	RNFT2	Q96EX2	387
RNF148	OR4N4	Q8N0Y3	378

IntAct

0 interactions, top by confidence:

BioGRID (56): SLC25A13 (Affinity Capture-MS), RNF103 (Affinity Capture-MS), HMGCR (Affinity Capture-MS), ATP6V0A2 (Affinity Capture-MS), RNF148 (Affinity Capture-MS), RNF148 (Two-hybrid), RNF148 (Affinity Capture-Western), CHAC2 (Affinity Capture-Western), ACTB (Affinity Capture-MS), PARP1 (Affinity Capture-MS), HSP90AB1 (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS), HSPA9 (Affinity Capture-MS), HSPD1 (Affinity Capture-MS), HIST1H4A (Affinity Capture-MS)

ESM2 similar proteins: B3H754, C0SV12, C6KIE6, C6L7U1, D1FP53, D1FP57, F4HZD1, F4HZZ4, F4HZZ5, F4ISV9, K7TQE3, O22267, O23225, O64752, P0CH01, Q0WS06, Q0WVZ1, Q5BPT4, Q5QM25, Q6AT32, Q6DBH0, Q84WJ0, Q8GZ84, Q8H1S7, Q8N7C7, Q94A51, Q94HV8, Q9C5A4, Q9C7E9, Q9CA71, Q9FFN9, Q9FH32, Q9FJ16, Q9FJX9, Q9FL82, Q9FMV0, Q9FXE2, Q9LFS2, Q9LFU0, Q9LHF5

Diamond homologs: A5WWA0, E9QAU8, G3X9R7, O22197, O22755, O43567, O54965, O64763, P0C034, P0CH30, P0DPR2, Q06003, Q07G42, Q08D68, Q0II22, Q0VD51, Q10R93, Q14B02, Q29RU0, Q2TA44, Q3U2C5, Q4KLR8, Q4R6Y5, Q5NCP0, Q5RCV8, Q5RF74, Q5SPX3, Q5SSZ7, Q5XF85, Q641J8, Q66HG0, Q68DV7, Q69U49, Q6AY01, Q6DIP3, Q6IRP0, Q6NML0, Q6NQG7, Q6NRX0, Q6Y290

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF148	ubiquitination

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

267 predictions. Top by Δscore:

Variant	Effect	Δscore
7:122701940:C:CT	donor_gain	0.9500
7:122701941:T:TT	donor_gain	0.9500
7:122702689:AG:A	donor_gain	0.7700
7:122702383:C:CA	donor_gain	0.7000
7:122702871:C:CA	donor_gain	0.6900
7:122702758:TTTGT:T	acceptor_gain	0.6600
7:122702759:TTGTC:T	acceptor_loss	0.6600
7:122702762:TC:T	acceptor_loss	0.6600
7:122702763:C:CA	acceptor_loss	0.6600
7:122702763:C:CC	acceptor_gain	0.6600
7:122702764:T:A	acceptor_loss	0.6600
7:122702774:C:CT	acceptor_loss	0.6600
7:122702775:A:T	acceptor_loss	0.6600
7:122702778:CA:C	acceptor_loss	0.6600
7:122702765:A:C	acceptor_loss	0.6500
7:122702754:T:TA	acceptor_loss	0.6200
7:122702080:CTC:C	acceptor_gain	0.6000
7:122702723:TCG:T	acceptor_loss	0.6000
7:122702721:CGTCG:C	acceptor_loss	0.5800
7:122702720:GCGTC:G	acceptor_loss	0.5700
7:122702081:TCCTG:T	acceptor_gain	0.5600
7:122702192:CCCA:C	donor_gain	0.5500
7:122702195:A:AC	donor_gain	0.5500
7:122702196:C:CC	donor_gain	0.5500
7:122702755:C:A	acceptor_loss	0.5400
7:122702788:C:CT	acceptor_loss	0.5400
7:122702789:A:T	acceptor_loss	0.5400
7:122702081:TCC:T	acceptor_loss	0.5300
7:122702082:CCTGG:C	acceptor_loss	0.5300
7:122702083:C:T	acceptor_loss	0.5300

AlphaMissense

2020 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:122702565:G:C	F62L	0.991
7:122702565:G:T	F62L	0.991
7:122702567:A:G	F62L	0.991
7:122702406:T:A	K115N	0.990
7:122702406:T:G	K115N	0.990
7:122702415:A:C	F112L	0.985
7:122702415:A:T	F112L	0.985
7:122702417:A:G	F112L	0.985
7:122702566:A:C	F62C	0.985
7:122701936:C:G	R272P	0.984
7:122702475:G:C	F92L	0.982
7:122702475:G:T	F92L	0.982
7:122702477:A:G	F92L	0.982
7:122702476:A:C	F92C	0.979
7:122701911:G:C	F280L	0.978
7:122701911:G:T	F280L	0.978
7:122701913:A:G	F280L	0.978
7:122702407:T:A	K115I	0.977
7:122702422:C:G	C110S	0.977
7:122702423:A:T	C110S	0.977
7:122701887:C:A	W288C	0.974
7:122701887:C:G	W288C	0.974
7:122701969:C:G	C261S	0.974
7:122701970:A:T	C261S	0.974
7:122702358:G:C	N131K	0.974
7:122702358:G:T	N131K	0.974
7:122701970:A:G	C261R	0.973
7:122702368:A:G	I128T	0.973
7:122702443:G:T	A103D	0.973
7:122701968:G:C	C261W	0.972

dbSNP variants (sampled 300 via entrez): RS1000497063 (7:122704565 T>C), RS1001465563 (7:122704462 T>G), RS1002203681 (7:122703589 T>C), RS1002527856 (7:122702180 T>A,C), RS1003746635 (7:122703796 T>C), RS1004153045 (7:122703598 C>T), RS1004537667 (7:122702506 T>C,G), RS1004993499 (7:122702691 C>A), RS1006627112 (7:122701348 C>A,T), RS1007689620 (7:122703914 G>A), RS1008382051 (7:122703948 C>T), RS1008433071 (7:122704195 C>T), RS1008770073 (7:122702895 C>T), RS1008779846 (7:122703211 C>T), RS1009705312 (7:122704304 C>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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Diethylhexyl Phthalate	decreases expression	1
Dihydrotestosterone	increases expression	1
Dronabinol	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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