RNF151

Summary

RNF151 (ring finger protein 151, HGNC:23235) is a protein-coding gene on chromosome 16p13.3, encoding RING finger protein 151 (Q2KHN1). May be involved in acrosome formation of spermatids.

Predicted to enable enzyme binding activity; identical protein binding activity; and zinc ion binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in cytoplasm and nucleus.

Source: NCBI Gene 146310 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_174903

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23235
Approved symbol	RNF151
Name	ring finger protein 151
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000179580
Ensembl biotype	protein_coding
Entrez	146310

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000321392, ENST00000569210, ENST00000569714

RefSeq mRNA: 2 — MANE Select: NM_174903 NM_001348711, NM_174903

CCDS: CCDS58405, CCDS86495

Canonical transcript exons

ENST00000569714 — 4 exons

Exon	Start	End
ENSE00001262415	1967274	1967419
ENSE00001262441	1967725	1967821
ENSE00002584221	1966856	1966884
ENSE00003842786	1968434	1968949

Expression profiles

Bgee: expression breadth broad, 94 present calls, max score 97.49.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1234 / max 166.4504, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152147	0.1234	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	97.49	gold quality
right testis	UBERON:0004534	97.46	gold quality
testis	UBERON:0000473	93.80	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.98	gold quality
sperm	CL:0000019	86.35	silver quality
adult organism	UBERON:0007023	79.17	gold quality
left ventricle myocardium	UBERON:0006566	76.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	76.68	gold quality
myocardium	UBERON:0002349	74.83	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	71.42	gold quality
biceps brachii	UBERON:0001507	70.84	gold quality
cartilage tissue	UBERON:0002418	69.31	gold quality
pancreatic ductal cell	CL:0002079	65.43	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	64.59	gold quality
deltoid	UBERON:0001476	63.89	gold quality
upper arm skin	UBERON:0004263	63.39	gold quality
nasal cavity epithelium	UBERON:0005384	63.31	gold quality
quadriceps femoris	UBERON:0001377	63.06	gold quality
vastus lateralis	UBERON:0001379	62.48	gold quality
vena cava	UBERON:0004087	61.88	gold quality
parotid gland	UBERON:0001831	61.62	gold quality
endothelial cell	CL:0000115	61.38	gold quality
decidua	UBERON:0002450	60.30	gold quality
jejunal mucosa	UBERON:0000399	58.13	gold quality
tendon of biceps brachii	UBERON:0008188	57.95	gold quality
pons	UBERON:0000988	57.86	gold quality
skeletal muscle tissue	UBERON:0001134	57.84	gold quality
muscle tissue	UBERON:0002385	57.81	gold quality
tibialis anterior	UBERON:0001385	56.50	silver quality
jejunum	UBERON:0002115	56.49	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	1786.49
E-ANND-3	no	1.78

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnf151	ENSDARG00000075046
mus_musculus	Rnf151	ENSMUSG00000008482
rattus_norvegicus	Rnf151	ENSRNOG00000014127
drosophila_melanogaster	CG9014	FBGN0028847

Paralogs (1): RNF41 (ENSG00000181852)

Protein

Protein identifiers

RING finger protein 151 — Q2KHN1 (reviewed: Q2KHN1)

All UniProt accessions (3): A0A0C4DFQ4, Q2KHN1, H3BNJ8

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in acrosome formation of spermatids.

Subunit / interactions. Interacts with DTNBP1.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Expression is testis-specific.

RefSeq proteins (2): NP_001335640, NP_777563* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001293	Znf_TRAF	Domain
IPR001841	Znf_RING	Domain
IPR013010	Znf_SIAH	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site

Pfam: PF13923

UniProt features (4 total): zinc finger region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2KHN1-F1	87.48	0.71

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 38 (showing top): WHITEHURST_PACLITAXEL_SENSITIVITY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_MALE_GAMETE_GENERATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_PROTEIN_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, GOBP_PROTEOLYSIS, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, MIKKELSEN_MCV6_LCP_WITH_H3K4ME3, MIKKELSEN_IPS_LCP_WITH_H3K4ME3, MIKKELSEN_ES_LCP_WITH_H3K4ME3, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A

GO Biological Process (2): spermatogenesis (GO:0007283), cell differentiation (GO:0030154)

GO Molecular Function (5): zinc ion binding (GO:0008270), enzyme binding (GO:0019899), identical protein binding (GO:0042802), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	2
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

695 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF151	RNF133	Q8WVZ7	554
RNF151	BRICD5	Q6PL45	519
RNF151	RNF126	Q9BV68	502
RNF151	RNF175	Q8N4F7	489
RNF151	A0A2R8Y4M4	A0A2R8Y4M4	479
RNF151	SH2D7	A6NKC9	474
RNF151	METTL24	Q5JXM2	474
RNF151	RBM18	Q96H35	451
RNF151	FAHD1	Q6P587	437
RNF151	OR2B11	Q5JQS5	434
RNF151	PAMR1	Q6UXH9	434
RNF151	OR5I1	Q13606	422
RNF151	SHCBP1L	Q9BZQ2	418
RNF151	CBLL2	Q8N7E2	417
RNF151	RNF148	Q8N7C7	405

IntAct

54 interactions, top by confidence:

A	B	Type	Score
RNF151	SREK1IP1	psi-mi:“MI:0915”(physical association)	0.560
RNF151	CT45A1	psi-mi:“MI:0915”(physical association)	0.560
PRPF3	RNF151	psi-mi:“MI:0915”(physical association)	0.560
RNF151	TSPYL2	psi-mi:“MI:0915”(physical association)	0.560
RNF151	NKAPD1	psi-mi:“MI:0915”(physical association)	0.560
RNF151	DVL3	psi-mi:“MI:0915”(physical association)	0.560
RNF151	ABT1	psi-mi:“MI:0915”(physical association)	0.560
RNF151	MMTAG2	psi-mi:“MI:0915”(physical association)	0.560
RNF151	PIBF1	psi-mi:“MI:0915”(physical association)	0.560
FGF12	RNF151	psi-mi:“MI:0915”(physical association)	0.560
RNF151	FAM133A	psi-mi:“MI:0915”(physical association)	0.560
RNF151	FAM9A	psi-mi:“MI:0915”(physical association)	0.560
RNF151	SCARA5	psi-mi:“MI:0915”(physical association)	0.560
RNF151	UBE2I	psi-mi:“MI:0915”(physical association)	0.560
RNF151	ZC4H2	psi-mi:“MI:0915”(physical association)	0.560
RNF151		psi-mi:“MI:0914”(association)	0.350
RNF151	TNRC18	psi-mi:“MI:0914”(association)	0.350
RNF151	MMAB	psi-mi:“MI:0914”(association)	0.350
SREK1IP1	RNF151	psi-mi:“MI:0915”(physical association)	0.000
RNF151	CT45A1	psi-mi:“MI:0915”(physical association)	0.000
PRPF3	RNF151	psi-mi:“MI:0915”(physical association)	0.000
RNF151	TSPYL2	psi-mi:“MI:0915”(physical association)	0.000
RNF151	FAM133A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (127): DTNBP1 (Reconstituted Complex), RNF151 (Reconstituted Complex), DTNBP1 (Affinity Capture-Western), DTNBP1 (Co-localization), RNF151 (Two-hybrid), RNF151 (Two-hybrid), RNF151 (Two-hybrid), RNF151 (Two-hybrid), RNF151 (Two-hybrid), RNF151 (Two-hybrid), RNF151 (Two-hybrid), RNF151 (Two-hybrid), RNF151 (Two-hybrid), RNF151 (Two-hybrid), RNF151 (Two-hybrid)

ESM2 similar proteins: D3YY23, G5E8P1, O43255, O43900, O60260, O94953, O95696, P25066, P25456, P90489, Q06986, Q08DF2, Q13049, Q17RB8, Q2KHN1, Q2TBT8, Q3V1N1, Q4TVR5, Q4U5R4, Q5FWL3, Q5M974, Q5R7T5, Q5REG4, Q5XIL0, Q6GPV5, Q6J1I8, Q6J212, Q6J2U6, Q7KTX7, Q7ZW16, Q80V91, Q80VI1, Q80VL3, Q8BH75, Q8CH72, Q8N9I9, Q8R4T2, Q8T3Y0, Q91VY5, Q91XF4

Diamond homologs: A0A1L8FG46, A0A1L8FM16, B1AUE5, E7FDW2, O35445, O60683, O64425, P68907, P87176, Q09463, Q2KHN1, Q2TBT8, Q54S31, Q568Y3, Q5M807, Q5RFK9, Q5ZIR9, Q69ZS0, Q6PC78, Q8HXW8, Q91YT2, Q96GF1, Q99942, Q9P3U8, Q9SYU4, Q9UPQ7, Q9UUF0, Q9V8P9, A8WWR3, O22197, O22283, O60106, P30631, P90859, Q07G42, Q0II22, Q641J8, Q6AVN2, Q6DIP3, Q6IRP0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF151	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

469 predictions. Top by Δscore:

Variant	Effect	Δscore
16:1968432:A:AG	acceptor_gain	1.0000
16:1968433:G:GG	acceptor_gain	1.0000
16:1967813:G:GT	donor_gain	0.9900
16:1968432:A:G	acceptor_loss	0.9900
16:1968433:GT:G	acceptor_gain	0.9900
16:1966958:G:T	donor_gain	0.9800
16:1966979:A:T	donor_gain	0.9800
16:1967058:GC:G	donor_gain	0.9800
16:1967817:TCAAG:T	donor_loss	0.9800
16:1967819:AAGG:A	donor_loss	0.9800
16:1967820:AGGTA:A	donor_loss	0.9800
16:1967821:GGTA:G	donor_loss	0.9800
16:1967823:T:C	donor_loss	0.9800
16:1967832:G:GG	donor_gain	0.9800
16:1968433:GTGCA:G	acceptor_gain	0.9800
16:1967410:G:GA	donor_gain	0.9700
16:1967412:C:G	donor_gain	0.9700
16:1967723:A:AG	acceptor_gain	0.9700
16:1967724:G:GG	acceptor_gain	0.9700
16:1968432:AGT:A	acceptor_gain	0.9700
16:1968433:GTG:G	acceptor_gain	0.9700
16:1968433:GTGC:G	acceptor_gain	0.9700
16:1966982:GG:G	donor_gain	0.9500
16:1966983:GG:G	donor_gain	0.9500
16:1967426:GCGG:G	donor_gain	0.9500
16:1967724:GA:G	acceptor_gain	0.9500
16:1967724:GAC:G	acceptor_gain	0.9400
16:1967724:GACA:G	acceptor_gain	0.9400
16:1967041:GC:G	donor_gain	0.9300
16:1967367:T:TA	donor_gain	0.9300

AlphaMissense

1591 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:1967385:T:C	F39L	0.991
16:1967387:C:A	F39L	0.991
16:1967387:C:G	F39L	0.991
16:1967298:T:C	F10L	0.987
16:1967300:C:A	F10L	0.987
16:1967300:C:G	F10L	0.987
16:1968434:T:A	C83S	0.975
16:1968435:G:C	C83S	0.975
16:1968455:T:A	C90S	0.974
16:1968456:G:C	C90S	0.974
16:1967337:T:A	C23S	0.969
16:1967338:G:C	C23S	0.969
16:1967381:C:A	H37Q	0.964
16:1967381:C:G	H37Q	0.964
16:1967328:T:C	C20R	0.963
16:1967389:G:A	C40Y	0.963
16:1967397:T:A	C43S	0.962
16:1967398:G:C	C43S	0.962
16:1967388:T:A	C40S	0.961
16:1967389:G:C	C40S	0.961
16:1967299:T:G	F10C	0.960
16:1967386:T:C	F39S	0.960
16:1967299:T:C	F10S	0.959
16:1967335:T:A	V22D	0.959
16:1967739:C:A	P55Q	0.959
16:1968434:T:C	C83R	0.959
16:1967386:T:G	F39C	0.957
16:1967328:T:A	C20S	0.955
16:1967329:G:C	C20S	0.955
16:1967337:T:C	C23R	0.954

dbSNP variants (sampled 300 via entrez): RS1001374265 (16:1968737 C>T), RS1001591131 (16:1966634 G>T), RS1002649697 (16:1967572 A>G), RS1003605698 (16:1968716 C>A,T), RS1003656798 (16:1968621 G>A,T), RS1003786438 (16:1964877 T>A), RS1003892482 (16:1965717 C>T), RS1004409488 (16:1965811 G>A), RS1005302265 (16:1966692 C>A,T), RS1005406639 (16:1968291 C>A,T), RS1006405281 (16:1968076 C>T), RS1007888531 (16:1967024 CCTT>C), RS1008325581 (16:1966796 G>A), RS1008348203 (16:1965097 C>G,T), RS1008796877 (16:1969160 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

1 associations (top):

Study	Trait	p-value
GCST010796_5218	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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