RBIS

Summary

RBIS (ribosomal biogenesis factor, HGNC:32235) is a protein-coding gene on chromosome 8q21.2, encoding Ribosomal biogenesis factor (Q8N0T1). Trans-acting factor in ribosome biogenesis required for efficient 40S and 60S subunit production. It is a selective cancer dependency (DepMap: 23.9% of cell lines).

Involved in ribosome biogenesis. Located in cytosol; nucleolus; and nucleoplasm.

Source: NCBI Gene 401466 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 8 total
• Cancer dependency (DepMap): dependent in 23.9% of screened cell lines
• MANE Select transcript: NM_001099673

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32235
Approved symbol	RBIS
Name	ribosomal biogenesis factor
Location	8q21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176731
Ensembl biotype	protein_coding
Entrez	401466

Gene structure

Transcript identifiers

Ensembl transcripts: 38 — 34 protein_coding, 4 retained_intron

ENST00000321777, ENST00000518786, ENST00000521286, ENST00000523245, ENST00000523281, ENST00000545322, ENST00000611854, ENST00000612809, ENST00000612977, ENST00000614462, ENST00000615071, ENST00000615697, ENST00000619594, ENST00000864766, ENST00000864767, ENST00000864768, ENST00000929979, ENST00000929980, ENST00000929981, ENST00000929982, ENST00000929983, ENST00000929984, ENST00000929985, ENST00000929986, ENST00000929987, ENST00000929988, ENST00000929989, ENST00000929990, ENST00000929991, ENST00000929992, ENST00000929993, ENST00000929994, ENST00000929995, ENST00000929996, ENST00000929997, ENST00000929998, ENST00000956034, ENST00000956035

RefSeq mRNA: 5 — MANE Select: NM_001099673 NM_001099670, NM_001099671, NM_001099672, NM_001099673, NM_001293320

CCDS: CCDS55255, CCDS78351

Canonical transcript exons

ENST00000619594 — 4 exons

Exon	Start	End
ENSE00001262841	85217386	85217502
ENSE00001433528	85220306	85220374
ENSE00003721951	85214921	85215037
ENSE00003752010	85214048	85214631

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 98.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 109.5085 / max 1620.1148, expressed in 1821 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93799	109.5085	1821

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	98.93	gold quality
tendon of biceps brachii	UBERON:0008188	98.64	gold quality
body of pancreas	UBERON:0001150	98.56	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.16	gold quality
upper arm skin	UBERON:0004263	98.06	gold quality
corpus epididymis	UBERON:0004359	98.02	gold quality
thymus	UBERON:0002370	97.99	gold quality
oral cavity	UBERON:0000167	97.96	gold quality
pancreatic ductal cell	CL:0002079	97.91	gold quality
caput epididymis	UBERON:0004358	97.91	gold quality
body of stomach	UBERON:0001161	97.83	gold quality
left ovary	UBERON:0002119	97.79	gold quality
endocervix	UBERON:0000458	97.76	gold quality
nasal cavity mucosa	UBERON:0001826	97.71	gold quality
trabecular bone tissue	UBERON:0002483	97.67	gold quality
ectocervix	UBERON:0012249	97.66	gold quality
endometrium	UBERON:0001295	97.62	gold quality
cauda epididymis	UBERON:0004360	97.62	gold quality
pancreas	UBERON:0001264	97.61	gold quality
fundus of stomach	UBERON:0001160	97.60	gold quality
gingiva	UBERON:0001828	97.57	gold quality
right ovary	UBERON:0002118	97.57	gold quality
metanephros cortex	UBERON:0010533	97.57	gold quality
mucosa of stomach	UBERON:0001199	97.55	gold quality
right uterine tube	UBERON:0001302	97.55	gold quality
ovary	UBERON:0000992	97.53	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.52	gold quality
heart right ventricle	UBERON:0002080	97.50	gold quality
gingival epithelium	UBERON:0001949	97.48	gold quality
metanephros	UBERON:0000081	97.47	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-13	yes	24.53
E-ANND-3	yes	12.32
E-CURD-88	yes	4.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

60 targeting RBIS, 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-12118	100.00	65.88	1270
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4531	99.99	69.70	3181
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-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 23.9% of screened cell lines.

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rbis	ENSDARG00000097630
mus_musculus	Rbis	ENSMUSG00000078784
rattus_norvegicus	Rbisl2	ENSRNOG00000038902
rattus_norvegicus	Rbis	ENSRNOG00000064945
rattus_norvegicus	Rbisl1	ENSRNOG00000066516

Protein

Protein identifiers

Ribosomal biogenesis factor — Q8N0T1 (reviewed: Q8N0T1)

All UniProt accessions (3): Q8N0T1, A0A087WWE7, E5RGR5

UniProt curated annotations — full annotation on UniProt →

Function. Trans-acting factor in ribosome biogenesis required for efficient 40S and 60S subunit production.

Subunit / interactions. Associates with the pre-60S ribosomal particles.

Subcellular location. Nucleus. Nucleolus.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N0T1-1	1	yes
Q8N0T1-2	2

RefSeq proteins (5): NP_001093140, NP_001093141, NP_001093142, NP_001093143, NP_001280249 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031389	RBIS	Family

Pfam: PF15679

UniProt features (6 total): modified residue 3, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N0T1-F1	78.69	0.28

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 (3): 19, 21, 69

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 86 (showing top): GOBP_RIBOSOME_BIOGENESIS, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, LIAO_METASTASIS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MILI_PSEUDOPODIA_CHEMOTAXIS_UP, URS_ADIPOCYTE_DIFFERENTIATION_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, MILI_PSEUDOPODIA, GOCC_NUCLEOLUS, chr8q21, CHICAS_RB1_TARGETS_LOW_SERUM, PECE_MAMMARY_STEM_CELL_UP, PTEN_DN.V1_DN, KRAS.AMP.LUNG_UP.V1_UP, KRAS.600_UP.V1_DN

GO Biological Process (1): ribosome biogenesis (GO:0042254)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear lumen	2
cellular anatomical structure	2
ribonucleoprotein complex biogenesis	1
binding	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

468 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RBIS	FAM174C	Q9BVV8	576
RBIS	LRRCC1	Q9C099	529
RBIS	RALYL	Q86SE5	484
RBIS	TMEM259	Q4ZIN3	462
RBIS	CCDC117	Q8IWD4	436
RBIS	THYN1	Q9P016	423
RBIS	VPS26B	Q4G0F5	421
RBIS	TMEM97	Q5BJF2	414
RBIS	ARHGAP45	Q92619	409
RBIS	NCAPD3	P42695	397
RBIS	WDR18	Q9BV38	391
RBIS	ACAD8	Q9UKU7	379
RBIS	DAZAP1	Q96EP5	363
RBIS	POLR2E	P19388	355
RBIS	SIGMAR1	Q99720	352

IntAct

10 interactions, top by confidence:

A	B	Type	Score
LRRK2	RBIS	psi-mi:“MI:0407”(direct interaction)	0.440
RBIS	PEX14	psi-mi:“MI:0915”(physical association)	0.400
MRPL34	IPO5	psi-mi:“MI:0914”(association)	0.350
TAGLN	LOC392647	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
IPO5	C11orf98	psi-mi:“MI:0914”(association)	0.350

BioGRID (30): C8orf59 (Reconstituted Complex), C8orf59 (Reconstituted Complex), C8orf59 (Affinity Capture-MS), C8orf59 (Reconstituted Complex), ESRRG (Two-hybrid), C8orf59 (Proximity Label-MS), C8orf59 (Proximity Label-MS), C8orf59 (Affinity Capture-MS), C8orf59 (Affinity Capture-MS), PEX14 (Affinity Capture-MS), C8orf59 (Affinity Capture-MS), C8orf59 (Affinity Capture-MS), OXR1 (Co-fractionation), MSTO1 (Co-fractionation), AP1M1 (Co-fractionation)

ESM2 similar proteins: A0A385XIL0, A1CF47, A1CM73, A1CYY6, A1DLU6, A1DLV0, A2R4J9, A3GHA4, A4RA36, A5DBJ8, A5DZY1, A6RF09, A6RJP7, A6RVU0, A7A239, A7E564, A7EPT0, A8YXZ5, O57594, P0CS20, P0CS21, P36080, P43586, Q0CH56, Q0UZV8, Q0V2R4, Q0VG62, Q148I0, Q1E403, Q24JV4, Q2U9C6, Q3B748, Q4HW93, Q4P7C7, Q4WDG1, Q4WI71, Q4WK56, Q4WRE2, Q4WXD3, Q5AJF1

Diamond homologs: A8YXZ5, Q0VG62, Q8N0T1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

559 predictions. Top by Δscore:

Variant	Effect	Δscore
8:85214915:GCTTA:G	donor_loss	1.0000
8:85214916:CTTAC:C	donor_loss	1.0000
8:85214917:TTAC:T	donor_loss	1.0000
8:85214918:TACC:T	donor_loss	1.0000
8:85215038:C:CC	acceptor_gain	1.0000
8:85215039:T:C	acceptor_gain	1.0000
8:85217381:CTCA:C	donor_loss	1.0000
8:85217382:TCA:T	donor_loss	1.0000
8:85217383:CACCT:C	donor_loss	1.0000
8:85217384:A:AC	donor_gain	1.0000
8:85217384:A:AT	donor_loss	1.0000
8:85217384:AC:A	donor_gain	1.0000
8:85217385:C:CC	donor_gain	1.0000
8:85217385:C:CG	donor_loss	1.0000
8:85217385:CC:C	donor_gain	1.0000
8:85217385:CCT:C	donor_gain	1.0000
8:85217385:CCTT:C	donor_gain	1.0000
8:85217498:ATTGT:A	acceptor_gain	1.0000
8:85217499:TTGT:T	acceptor_gain	1.0000
8:85217500:TGT:T	acceptor_gain	1.0000
8:85217501:GT:G	acceptor_gain	1.0000
8:85217501:GTCT:G	acceptor_loss	1.0000
8:85217502:TCTA:T	acceptor_loss	1.0000
8:85217503:C:CC	acceptor_gain	1.0000
8:85217503:C:T	acceptor_loss	1.0000
8:85214627:GGAAT:G	acceptor_gain	0.9900
8:85214628:GAAT:G	acceptor_gain	0.9900
8:85214630:AT:A	acceptor_gain	0.9900
8:85214632:C:CC	acceptor_gain	0.9900
8:85214633:T:C	acceptor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000821031 (8:85216540 G>A), RS1000883433 (8:85218555 T>A,C), RS1000958143 (8:85217000 T>C), RS1001461416 (8:85218136 T>C), RS1001661096 (8:85221840 A>G), RS1001741224 (8:85219294 C>T), RS1002378312 (8:85222183 T>C,G), RS1002933338 (8:85220414 C>A,T), RS1003152432 (8:85214162 G>A,C), RS1003676007 (8:85218895 T>C), RS1005068083 (8:85220207 G>A), RS1005118632 (8:85220369 G>A), RS1005399728 (8:85221134 T>C), RS1005742457 (8:85215554 A>C,G), RS1006409436 (8:85215814 G>A)

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Air Pollutants	decreases expression, increases abundance	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
chloropicrin	increases expression	1
ICG 001	decreases expression	1
bisphenol S	affects cotreatment, decreases methylation	1
jinfukang	decreases expression	1
MT19c compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Leflunomide	decreases expression	1
Cadmium	decreases expression	1
Cisplatin	decreases expression	1
Copper	affects binding, decreases expression	1
Disulfiram	affects binding, decreases expression	1
Gasoline	decreases expression, increases abundance, affects cotreatment	1
Plant Extracts	affects cotreatment, increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Quercetin	decreases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression, increases abundance	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases expression	1
Aflatoxin M1	decreases expression	1
1-Butanol	affects cotreatment, decreases expression, increases abundance	1

Clinical trials (associated diseases)

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