NOAZFP

Summary

NOAZFP (nucleolar atypical zinc finger, HGNC:15462) is a protein-coding gene on chromosome 4q31.21, encoding Zinc finger protein 330 (Q9Y3S2).

Predicted to enable metal ion binding activity. Located in several cellular components, including ciliary basal body; midbody; and nuclear lumen.

Source: NCBI Gene 27309 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_014487

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15462
Approved symbol	NOAZFP
Name	nucleolar atypical zinc finger
Location	4q31.21
Locus type	gene with protein product
Status	Approved
Aliases	NOA36, HSA6591
Ensembl gene	ENSG00000109445
Ensembl biotype	protein_coding
OMIM	609550
Entrez	27309

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 22 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000262990, ENST00000503649, ENST00000506302, ENST00000507532, ENST00000512738, ENST00000512809, ENST00000514826, ENST00000515453, ENST00000909781, ENST00000955956, ENST00000955957, ENST00000955958, ENST00000955959, ENST00000955960, ENST00000955961, ENST00000955962, ENST00000955963, ENST00000955964, ENST00000955965, ENST00000955966, ENST00000955967, ENST00000955968, ENST00000955969, ENST00000955970, ENST00000955971, ENST00000955972

RefSeq mRNA: 2 — MANE Select: NM_014487 NM_001292002, NM_014487

CCDS: CCDS3754

Canonical transcript exons

ENST00000262990 — 10 exons

Exon	Start	End
ENSE00001133694	141233715	141234697
ENSE00003479438	141230166	141230270
ENSE00003493311	141226767	141226846
ENSE00003496318	141224607	141224677
ENSE00003520429	141231439	141231485
ENSE00003522096	141229571	141229697
ENSE00003522774	141224487	141224506
ENSE00003790454	141232525	141232642
ENSE00003843840	141220895	141221108
ENSE00003845998	141222366	141222491

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 98.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.6546 / max 370.1328, expressed in 1821 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
49812	34.6074	1821
49811	0.0471	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.54	gold quality
germinal epithelium of ovary	UBERON:0001304	97.92	gold quality
oocyte	CL:0000023	97.51	gold quality
sperm	CL:0000019	97.33	gold quality
heart right ventricle	UBERON:0002080	97.30	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.07	gold quality
amniotic fluid	UBERON:0000173	97.01	gold quality
heart left ventricle	UBERON:0002084	97.01	gold quality
cardiac ventricle	UBERON:0002082	96.99	gold quality
apex of heart	UBERON:0002098	96.98	gold quality
esophagus squamous epithelium	UBERON:0006920	96.41	gold quality
epithelium of nasopharynx	UBERON:0001951	96.40	gold quality
nasopharynx	UBERON:0001728	96.39	gold quality
parotid gland	UBERON:0001831	96.25	gold quality
male germ cell	CL:0000015	96.18	gold quality
parietal pleura	UBERON:0002400	96.15	gold quality
pigmented layer of retina	UBERON:0001782	96.05	gold quality
retina	UBERON:0000966	96.03	gold quality
heart	UBERON:0000948	95.89	gold quality
left ventricle myocardium	UBERON:0006566	95.63	gold quality
pleura	UBERON:0000977	95.61	gold quality
tibia	UBERON:0000979	95.33	gold quality
visceral pleura	UBERON:0002401	95.32	gold quality
gastrocnemius	UBERON:0001388	95.28	gold quality
muscle of leg	UBERON:0001383	95.22	gold quality
right atrium auricular region	UBERON:0006631	95.22	gold quality
muscle organ	UBERON:0001630	95.06	gold quality
skeletal muscle organ	UBERON:0014892	95.06	gold quality
cardiac atrium	UBERON:0002081	95.03	gold quality
eye	UBERON:0000970	94.96	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-10	no	481.39
E-MTAB-2983	no	471.55
E-MTAB-7052	no	221.81
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting NOAZFP, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-549A-3P	99.54	68.17	825
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-4293	99.22	65.46	1263
HSA-MIR-146A-3P	99.13	68.99	1881
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-3611	98.76	68.76	1290
HSA-MIR-5094	98.63	67.11	1062
HSA-MIR-3138	98.41	67.53	744
HSA-MIR-4277	98.34	67.17	1323
HSA-MIR-4289	98.26	66.90	810

Literature-anchored findings (GeneRIF, showing 3)

• NOA36/ZNF330 is translocated from the mitochondria to the cytoplasm when apoptosis is induced and that it contributes to cytochrome c release. (PMID:19895853)
• NOA36 protein contains a highly conserved nucleolar localization signal capable of directing functional proteins to the nucleolus, in mammalian cells. (PMID:23516598)
• ZNF330/NOA36 interacts with HSPA1 and HSPA8 and modulates cell cycle and proliferation in response to heat shock in HEK293 cells. (PMID:37254218)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf330	ENSDARG00000020494
mus_musculus	Zfp330	ENSMUSG00000031711
rattus_norvegicus	Zfp330	ENSRNOG00000003461
drosophila_melanogaster	Noa36	FBGN0026400

Protein

Protein identifiers

Zinc finger protein 330 — Q9Y3S2 (reviewed: Q9Y3S2)

Alternative names: Nucleolar autoantigen 36, Nucleolar cysteine-rich protein

All UniProt accessions (6): Q9Y3S2, D6R8Y9, D6R9C8, D6RBR7, D6RBS7, D6RCK7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus. Nucleolus. Chromosome. Centromere.

Tissue specificity. Widely expressed. Higher expression seen in heart and skeletal muscle.

Similarity. Belongs to the NOA36 family.

RefSeq proteins (2): NP_001278931, NP_055302* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010531	NOA36	Family

Pfam: PF06524

UniProt features (14 total): zinc finger region 4, compositionally biased region 3, sequence variant 2, region of interest 2, chain 1, modified residue 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y3S2-F1	76.52	0.37

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): 291

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 116 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, SHEPARD_BMYB_MORPHOLINO_UP, SHEPARD_CRASH_AND_BURN_MUTANT_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, RIZKI_TUMOR_INVASIVENESS_3D_DN, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, MARTINEZ_RB1_TARGETS_DN, GROSS_HYPOXIA_VIA_ELK3_DN, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_UP, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, PEART_HDAC_PROLIFERATION_CLUSTER_DN, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, PUJANA_BRCA_CENTERED_NETWORK

GO Biological Process (0):

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

GO Cellular Component (9): chromosome, centromeric region (GO:0000775), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), cilium (GO:0005929), midbody (GO:0030496), ciliary basal body (GO:0036064), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nuclear lumen	2
intracellular membraneless organelle	2
transition metal ion binding	1
cation binding	1
binding	1
chromosomal region	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
microtubule organizing center	1
cilium	1

Protein interactions and networks

STRING

632 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NOAZFP	UBTF	P17480	792
NOAZFP	NUDT14	O95848	449
NOAZFP	PPP1R21	Q6ZMI0	449
NOAZFP	YJEFN3	A6XGL0	448
NOAZFP	FERRY3	Q9NQ89	445
NOAZFP	SCOC	Q9UIL1	419
NOAZFP	ZNF605	Q86T29	418
NOAZFP	ZNF225	Q9UK10	378
NOAZFP	COMMD4	Q9H0A8	373
NOAZFP	SLC68A1	Q14CX5	370
NOAZFP	AFG2B	Q9BVQ7	358
NOAZFP	ARHGAP22	Q7Z5H3	357
NOAZFP	ZNF266	Q14584	348
NOAZFP	MORN1	Q5T089	348
NOAZFP	B4GALT2	O60909	347

IntAct

179 interactions, top by confidence:

A	B	Type	Score
RWDD4	ZNF330	psi-mi:“MI:0915”(physical association)	0.810
ZNF408	ZNF330	psi-mi:“MI:0915”(physical association)	0.670
ZNF330	NDUFB7	psi-mi:“MI:0915”(physical association)	0.560
ZNF330	RSPO2	psi-mi:“MI:0915”(physical association)	0.560
ZNF330	SPATA3	psi-mi:“MI:0915”(physical association)	0.560
ZNF330	TRIM42	psi-mi:“MI:0915”(physical association)	0.560
ZNF330	ZNF23	psi-mi:“MI:0915”(physical association)	0.560
ZNF460	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
ZNF837	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
TLE5	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-1	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
MDFI	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
SUFU	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
OTX1	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
ADAMTSL4	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
RBAK	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
NR4A3	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
PICK1	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
STK16	ZNF330	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (449): ZNF330 (Affinity Capture-MS), ZNF330 (Affinity Capture-MS), ZNF330 (Affinity Capture-MS), ZNF330 (Two-hybrid), ZNF330 (Two-hybrid), ZNF330 (Two-hybrid), ZNF330 (Two-hybrid), ZNF330 (Two-hybrid), ZNF330 (Two-hybrid), ZNF330 (Two-hybrid), ZNF330 (Two-hybrid), MDFI (Two-hybrid), OTX1 (Two-hybrid), STK16 (Two-hybrid), NR4A3 (Two-hybrid)

ESM2 similar proteins: A4D161, A6H7A8, E1BGQ2, O70524, O75391, P29084, P29540, P70445, Q14161, Q15650, Q28J59, Q2KJF9, Q2NL14, Q2VPL9, Q32LC9, Q32NC0, Q3ZK22, Q4V8D7, Q4VA36, Q5R595, Q5R802, Q5R9D9, Q5RFL7, Q5XI52, Q5ZJK1, Q66H91, Q6AY70, Q7TNE3, Q861R7, Q86UT8, Q8BND4, Q8BQR4, Q8BXK4, Q8C790, Q8IWR0, Q8K2I9, Q8NFZ0, Q8VDD9, Q8WWQ0, Q922H9

Diamond homologs: O70524, Q32LC9, Q5R9D9, Q922H9, Q9VAU9, Q9Y3S2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 59 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	5	8.4×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1342 predictions. Top by Δscore:

Variant	Effect	Δscore
4:141222435:C:G	donor_gain	1.0000
4:141222448:G:GT	donor_gain	1.0000
4:141222466:C:G	donor_gain	1.0000
4:141224600:T:G	acceptor_gain	1.0000
4:141226844:GTG:G	donor_gain	1.0000
4:141229562:T:TA	acceptor_gain	1.0000
4:141229565:TTACA:T	acceptor_loss	1.0000
4:141229567:ACAG:A	acceptor_gain	1.0000
4:141229568:CAGGG:C	acceptor_loss	1.0000
4:141229569:A:AG	acceptor_gain	1.0000
4:141229569:AG:A	acceptor_gain	1.0000
4:141229569:AGG:A	acceptor_gain	1.0000
4:141229569:AGGGT:A	acceptor_gain	1.0000
4:141229570:G:A	acceptor_gain	1.0000
4:141229570:G:GG	acceptor_gain	1.0000
4:141229570:GGG:G	acceptor_gain	1.0000
4:141229570:GGGT:G	acceptor_gain	1.0000
4:141229570:GGGTG:G	acceptor_gain	1.0000
4:141229698:G:GG	donor_gain	1.0000
4:141229698:GT:G	donor_loss	1.0000
4:141229699:TGAG:T	donor_loss	1.0000
4:141229700:GA:G	donor_loss	1.0000
4:141230156:A:AG	acceptor_gain	1.0000
4:141230157:A:G	acceptor_gain	1.0000
4:141230158:T:G	acceptor_gain	1.0000
4:141230161:A:AG	acceptor_gain	1.0000
4:141230161:AATAG:A	acceptor_gain	1.0000
4:141230164:A:AG	acceptor_gain	1.0000
4:141230164:AG:A	acceptor_gain	1.0000
4:141230165:G:GG	acceptor_gain	1.0000

AlphaMissense

2139 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:141222482:T:A	N37K	1.000
4:141222482:T:G	N37K	1.000
4:141224490:T:C	C42R	1.000
4:141224499:T:A	C45S	1.000
4:141224499:T:C	C45R	1.000
4:141224500:G:C	C45S	1.000
4:141224621:G:C	R52T	1.000
4:141224621:G:T	R52I	1.000
4:141224622:A:C	R52S	1.000
4:141224622:A:T	R52S	1.000
4:141224624:C:A	A53E	1.000
4:141224629:T:A	C55S	1.000
4:141224629:T:C	C55R	1.000
4:141224630:G:A	C55Y	1.000
4:141224630:G:C	C55S	1.000
4:141224630:G:T	C55F	1.000
4:141224631:C:G	C55W	1.000
4:141224638:T:C	C58R	1.000
4:141224639:G:A	C58Y	1.000
4:141224639:G:T	C58F	1.000
4:141224640:T:G	C58W	1.000
4:141224665:T:C	C67R	1.000
4:141224667:T:G	C67W	1.000
4:141226775:A:G	K74E	1.000
4:141226777:G:C	K74N	1.000
4:141226777:G:T	K74N	1.000
4:141226778:T:A	C75S	1.000
4:141226778:T:C	C75R	1.000
4:141226779:G:C	C75S	1.000
4:141226799:T:C	C82R	1.000

dbSNP variants (sampled 300 via entrez): RS1000198602 (4:141230706 G>A), RS1000588792 (4:141230625 C>T), RS1001000446 (4:141224680 A>G), RS1001204613 (4:141228967 T>C), RS1001759635 (4:141231863 G>A), RS1001863801 (4:141222741 A>G), RS10018974 (4:141218710 C>T), RS1002272043 (4:141226337 T>C), RS10023024 (4:141221533 A>G), RS1002330902 (4:141228043 A>T), RS1002380584 (4:141219603 T>C), RS1002418054 (4:141221166 G>A,T), RS1002551975 (4:141227652 T>C), RS1002646064 (4:141226007 A>G), RS1003013989 (4:141227949 T>C)

Disease associations

OMIM: gene MIM:609550 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000714_10	Conduct disorder	7.000000e-06
GCST010725_4	Malaria	4.000000e-10
GCST010725_84	Malaria	7.000000e-11
GCST010725_89	Malaria	7.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation, affects expression	3
Particulate Matter	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
lead acetate	increases expression	1
methylparaben	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
beta-methylcholine	affects expression	1
pinosylvin	decreases expression	1
abrine	increases expression	1
MT19c compound	increases expression	1
Decitabine	affects expression	1
Vorinostat	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Carbamazepine	affects expression	1
Cisplatin	affects expression	1
Doxorubicin	affects expression	1
Phenobarbital	affects expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	affects expression	1

Clinical trials (associated diseases)

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