PANO1

Summary

PANO1 (proapoptotic nucleolar protein 1, HGNC:51237) is a protein-coding gene on chromosome 11p15.5, encoding Proapoptotic nucleolar protein 1 (I0J062). Apoptosis-inducing protein that modulates the tumor suppressor function of CDKN2A/p14ARF.

Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of apoptotic process; and regulation of protein stability. Located in nucleolus.

Source: NCBI Gene 101927423 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 13 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51237
Approved symbol	PANO1
Name	proapoptotic nucleolar protein 1
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	PANO
Ensembl gene	ENSG00000288675
Ensembl biotype	protein_coding
OMIM	620541
Entrez	101927423

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000678030

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000678030 — 1 exons

Exon	Start	End
ENSE00003904825	797511	799190

Expression profiles

Bgee: expression breadth ubiquitous, 126 present calls, max score 75.43.

Top tissues by expression

132 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	75.43	silver quality
right hemisphere of cerebellum	UBERON:0014890	68.87	gold quality
cerebellar hemisphere	UBERON:0002245	68.27	gold quality
cerebellum	UBERON:0002037	68.24	gold quality
cerebellar cortex	UBERON:0002129	68.22	gold quality
stromal cell of endometrium	CL:0002255	66.80	gold quality
pituitary gland	UBERON:0000007	65.95	gold quality
body of pancreas	UBERON:0001150	65.29	gold quality
adenohypophysis	UBERON:0002196	64.17	gold quality
right lobe of liver	UBERON:0001114	63.44	gold quality
granulocyte	CL:0000094	63.08	gold quality
cortical plate	UBERON:0005343	63.08	gold quality
primary visual cortex	UBERON:0002436	62.84	gold quality
superior frontal gyrus	UBERON:0002661	61.83	gold quality
prefrontal cortex	UBERON:0000451	61.21	gold quality
right frontal lobe	UBERON:0002810	61.21	gold quality
frontal cortex	UBERON:0001870	61.12	gold quality
lower esophagus mucosa	UBERON:0035834	61.05	gold quality
anterior cingulate cortex	UBERON:0009835	60.67	gold quality
ganglionic eminence	UBERON:0004023	60.66	gold quality
cerebral cortex	UBERON:0000956	60.47	gold quality
brain	UBERON:0000955	60.28	gold quality
pancreas	UBERON:0001264	60.17	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	60.10	gold quality
Brodmann (1909) area 9	UBERON:0013540	60.10	gold quality
Ammon’s horn	UBERON:0001954	59.17	gold quality
temporal lobe	UBERON:0001871	58.18	gold quality
amygdala	UBERON:0001876	58.02	gold quality
hypothalamus	UBERON:0001898	57.56	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	56.76	gold quality

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• PANO is a new apoptosis-inducing gene by modulating the tumor suppressor protein, p14ARF, and may itself be a new candidate tumor suppressor gene. (PMID:22094112)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Proapoptotic nucleolar protein 1 — I0J062 (reviewed: I0J062)

All UniProt accessions (1): I0J062

UniProt curated annotations — full annotation on UniProt →

Function. Apoptosis-inducing protein that modulates the tumor suppressor function of CDKN2A/p14ARF. Enhances the stability of CDKN2A/p14ARF protein by protecting it from degradation. May act as a tumor suppressor.

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Widely expressed.

Induction. Up-regulated after serum withdrawal.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

UniProt features (4 total): region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-I0J062-F1	51.33	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 29 (showing top): GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_REGULATION_OF_PROTEOLYSIS, GOBP_PROTEIN_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS, GOBP_PROTEOLYSIS, GOCC_NUCLEOLUS, GOBP_REGULATION_OF_PROTEIN_METABOLIC_PROCESS

GO Biological Process (4): apoptotic process (GO:0006915), regulation of protein stability (GO:0031647), negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435), positive regulation of apoptotic process (GO:0043065)

GO Molecular Function (0):

GO Cellular Component (2): nucleolus (GO:0005730), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
regulation of biological quality	1
regulation of proteasomal ubiquitin-dependent protein catabolic process	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
negative regulation of proteasomal protein catabolic process	1
negative regulation of ubiquitin-dependent protein catabolic process	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

52 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PANO1	CAAP1	Q9H8G2	367
PANO1	CDK5R2	Q13319	301
PANO1	BORA	Q6PGQ7	297
PANO1	ABHD4	Q8TB40	290
PANO1	GADD45GIP1	Q8TAE8	259
PANO1	PAPSS1	O43252	255
PANO1	PAM	P19021	245
PANO1	CENPM	Q9NSP4	229
PANO1	UQCRH	P07919	223
PANO1	CCNK	O75909	206
PANO1	PPA2	Q9H2U2	202
PANO1	PPP1R10	Q96QC0	200
PANO1	NFKBID	Q8NI38	200
PANO1	PIDD1	Q9HB75	195
PANO1	OGT	O15294	194

IntAct

2 interactions, top by confidence:

A	B	Type	Score
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A3Q1LFG5, A6NHQ4, A8MZ25, B3EWF7, C0HMD6, H3BQW9, I0J062, I3L1E1, P0C7T7, P0C7V0, P0C864, P0C879, P0C880, P0DP75, P70339, Q495Z4, Q5T4H9, Q5TG53, Q66K80, Q6EEV4, Q6UXQ8, Q6UXU0, Q6ZRN7, Q6ZS46, Q6ZSR3, Q6ZUF6, Q71F78, Q7TNS8, Q86X59, Q8JN06, Q8N319, Q8N6K4, Q8N6U2, Q8N7H1, Q8N7Y1, Q8N910, Q8N9P0, Q8N9X3, Q8NAQ8, Q8NBZ9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

427 predictions. Top by Δscore:

Variant	Effect	Δscore
11:797624:C:T	donor_gain	0.8600
11:797569:GGG:G	donor_gain	0.8500
11:797570:GGG:G	donor_gain	0.8500
11:797542:G:GT	donor_gain	0.8100
11:798080:G:GT	donor_gain	0.8000
11:797628:GGGG:G	donor_gain	0.7800
11:797629:GGGG:G	donor_gain	0.7800
11:797912:A:AG	donor_gain	0.7700
11:798075:TCC:T	donor_gain	0.7700
11:797913:A:G	donor_gain	0.7400
11:797889:C:T	donor_gain	0.7200
11:797940:C:A	donor_gain	0.7100
11:798194:G:GT	donor_gain	0.7100
11:797990:G:GG	donor_gain	0.7000
11:797575:A:AG	donor_gain	0.6800
11:797907:C:CA	donor_gain	0.6800
11:797921:GT:G	donor_gain	0.6800
11:797939:T:TA	donor_gain	0.6800
11:797568:AGG:A	donor_gain	0.6700
11:797629:GGG:G	donor_gain	0.6600
11:797630:GGG:G	donor_gain	0.6600
11:798484:C:CA	acceptor_gain	0.6400
11:797989:C:G	donor_gain	0.6300
11:797911:G:A	donor_gain	0.6100
11:797993:T:A	donor_gain	0.6100
11:798283:C:T	donor_gain	0.6100
11:797576:A:AT	donor_gain	0.6000
11:798076:C:A	donor_gain	0.6000
11:797630:GG:G	donor_gain	0.5900
11:797631:GG:G	donor_gain	0.5900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000130238 (11:796316 G>C), RS1000896388 (11:798042 G>A,T), RS1001873701 (11:797483 G>A), RS1002172217 (11:797310 G>C), RS1002528290 (11:798342 C>G,T), RS1003543378 (11:799105 C>T), RS1003815885 (11:796532 C>T), RS1004073980 (11:798223 C>G), RS1004177051 (11:799120 T>C), RS1005079417 (11:799091 C>A,G,T), RS1005130311 (11:798845 A>C), RS1005588848 (11:798275 C>G,T), RS1005968005 (11:795906 C>T), RS1006310162 (11:796094 C>T), RS1006922537 (11:797123 G>A)

Disease associations

OMIM: gene MIM:620541 | disease phenotypes: MIM:609304

GenCC curated gene-disease

Mondo (1): developmental and epileptic encephalopathy, 3 (MONDO:0012245)

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

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
benzo(e)pyrene	decreases methylation	1
Methapyrilene	decreases methylation	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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