FIZ1

Summary

FIZ1 (FLT3 interacting zinc finger 1, HGNC:25917) is a protein-coding gene on chromosome 19q13.42, encoding Flt3-interacting zinc finger protein 1 (Q96SL8). May be a transcriptional repressor of NRL function in photoreceptors.

This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina.

Source: NCBI Gene 84922 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 70 total
• MANE Select transcript: NM_032836

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25917
Approved symbol	FIZ1
Name	FLT3 interacting zinc finger 1
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14768, ZNF798
Ensembl gene	ENSG00000179943
Ensembl biotype	protein_coding
OMIM	609133
Entrez	84922

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 16 protein_coding

ENST00000221665, ENST00000587414, ENST00000587678, ENST00000590714, ENST00000592585, ENST00000885048, ENST00000885049, ENST00000922361, ENST00000922362, ENST00000922363, ENST00000922364, ENST00000922365, ENST00000922366, ENST00000972154, ENST00000972155, ENST00000972156

RefSeq mRNA: 1 — MANE Select: NM_032836 NM_032836

CCDS: CCDS12928

Canonical transcript exons

ENST00000221665 — 3 exons

Exon	Start	End
ENSE00000728079	55591376	55593646
ENSE00001371333	55597572	55597901
ENSE00001371804	55599474	55599517

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 97.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.7934 / max 61.2071, expressed in 1724 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182849	5.7723	1724
182848	0.0211	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	97.65	silver quality
kidney epithelium	UBERON:0004819	96.95	silver quality
left ventricle myocardium	UBERON:0006566	96.74	silver quality
nasal cavity epithelium	UBERON:0005384	95.05	silver quality
upper arm skin	UBERON:0004263	93.22	gold quality
vena cava	UBERON:0004087	91.65	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	91.58	silver quality
myocardium	UBERON:0002349	91.43	silver quality
ventral tegmental area	UBERON:0002691	91.11	gold quality
cardia of stomach	UBERON:0001162	90.89	silver quality
tibialis anterior	UBERON:0001385	90.65	silver quality
epithelial cell of pancreas	CL:0000083	90.49	gold quality
subthalamic nucleus	UBERON:0001906	90.14	silver quality
dorsal plus ventral thalamus	UBERON:0001897	89.82	silver quality
lateral globus pallidus	UBERON:0002476	89.66	silver quality
body of tongue	UBERON:0011876	89.66	silver quality
inferior vagus X ganglion	UBERON:0005363	89.55	gold quality
ileal mucosa	UBERON:0000331	88.92	gold quality
medulla oblongata	UBERON:0001896	88.90	silver quality
pharyngeal mucosa	UBERON:0000355	88.65	silver quality
substantia nigra pars reticulata	UBERON:0001966	88.62	silver quality
superior vestibular nucleus	UBERON:0007227	88.54	silver quality
lateral nuclear group of thalamus	UBERON:0002736	88.46	silver quality
pericardium	UBERON:0002407	88.36	silver quality
pylorus	UBERON:0001166	88.29	silver quality
deltoid	UBERON:0001476	88.26	silver quality
pons	UBERON:0000988	88.05	silver quality
substantia nigra pars compacta	UBERON:0001965	88.02	gold quality
trachea	UBERON:0003126	87.94	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	87.91	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.56
E-MTAB-6678	no	2.41

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
PDE6B	Unknown
RHO	Unknown

JASPAR motifs

Motif	Name	Family
MA2521.1	FIZ1	Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605320

miRNA regulators (miRDB)

75 targeting FIZ1, 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-513A-5P	100.00	69.77	2465
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-26A-1-3P	99.64	66.81	788
HSA-MIR-26A-2-3P	99.64	66.82	786

Literature-anchored findings (GeneRIF, showing 3)

• Homologous to mouse and bovine Fiz1 (flt-3 interacting zinc finger). Interacts with NRL (neural retina leucine zipper). Antibody detects protein in human, mouse, bovine retina. Possible role for Fiz1 as a transcriptional repressor. (PMID:12566383)
• Activators of the Rhodopsin gene are present before activation of the gene. FIZ1 expression rises at this time and it can synergize with NRL and CRX at the Rho and PDE6B promoters. FIZ1 may syncronize the onset of maturation related gene expression. (PMID:17141759)
• Signal transducer/transcription factor FIZ1 regulated signaling pathways are implicated in regulation of the balance between proliferation and differentiation in keratinocytes. (PMID:24956037)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fiz1	ENSMUSG00000061374
rattus_norvegicus	Fiz1	ENSRNOG00000016574
drosophila_melanogaster	CG31224	FBGN0051224

Paralogs (2): ZNF618 (ENSG00000157657), ZBTB44 (ENSG00000196323)

Protein

Protein identifiers

Flt3-interacting zinc finger protein 1 — Q96SL8 (reviewed: Q96SL8)

Alternative names: Zinc finger protein 798

All UniProt accessions (5): Q96SL8, K7EJE2, K7EQX6, K7ERP0, K7ES33

UniProt curated annotations — full annotation on UniProt →

Function. May be a transcriptional repressor of NRL function in photoreceptors. Does not repress CRX-mediated transactivation.

Subunit / interactions. Interacts with FLT3 cytoplasmic catalytic domain, following receptor stimulation, in a kinase-independent manner. Does not interact with other structurally related receptor tyrosine kinases, including KIT, CSF1R and PDGFR. Interacts with NRL.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Widely expressed.

RefSeq proteins (1): NP_116225* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR056436	Znf-C2H2_ZIC1-5/GLI1-3-like	Domain

Pfam: PF00096, PF23561

UniProt features (18 total): zinc finger region 11, region of interest 2, chain 1, compositionally biased region 1, modified residue 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96SL8-F1	64.16	0.00

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): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 108 (showing top): E2F_Q4, E2F4DP1_01, LFA1_Q6, AAAYRNCTG_UNKNOWN, YY1_Q6, NKX62_Q2, E2F1DP1_01, E2F1DP2_01, YY1_02, CCTGTGA_MIR513, CCCNNNNNNAAGWT_UNKNOWN, PARK_HSC_AND_MULTIPOTENT_PROGENITORS, E2F1_Q3, WHN_B, GOMF_SIGNALING_RECEPTOR_BINDING

GO Biological Process (1): positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (5): transcription coactivator activity (GO:0003713), zinc ion binding (GO:0008270), receptor tyrosine kinase binding (GO:0030971), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), metal ion binding (GO:0046872)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of DNA-templated transcription	2
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
transcription coregulator activity	1
transition metal ion binding	1
signaling receptor binding	1
protein tyrosine kinase binding	1
DNA-binding transcription factor binding	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

862 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FIZ1	CRX	O43186	863
FIZ1	NRL	P54845	846
FIZ1	FLT3	P36888	783
FIZ1	RHO	P08100	606
FIZ1	RSPRY1	Q96DX4	562
FIZ1	CSF1R	P07333	558
FIZ1	MAF	O75444	547
FIZ1	RAX	Q9Y2V3	528
FIZ1	RSRC2	Q7L4I2	518
FIZ1	CCDC106	Q9BWC9	513
FIZ1	ISOC2	Q96AB3	504
FIZ1	ZC3H15	Q8WU90	503
FIZ1	NAT14	Q8WUY8	499
FIZ1	NUDT13	Q86X67	494
FIZ1	TSPAN10	Q9H1Z9	482

IntAct

16 interactions, top by confidence:

A	B	Type	Score
CHCHD10	CLPX	psi-mi:“MI:0914”(association)	0.640
VWCE	ZNF316	psi-mi:“MI:0914”(association)	0.530
TNFRSF13B	TNFRSF10B	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
NOTCH2	ZNF316	psi-mi:“MI:0914”(association)	0.530
CHCHD10	ZNF593	psi-mi:“MI:0914”(association)	0.350
TNFRSF13B	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
CIAO1	SOX1	psi-mi:“MI:0914”(association)	0.350
SP100	SART1	psi-mi:“MI:0914”(association)	0.350
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
PRM2	IPO5	psi-mi:“MI:0914”(association)	0.350
ZCRB1	CBX4	psi-mi:“MI:0914”(association)	0.350
	FIZ1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): FIZ1 (Affinity Capture-MS), FIZ1 (Affinity Capture-MS), FIZ1 (Affinity Capture-MS), FIZ1 (Affinity Capture-MS), FIZ1 (Affinity Capture-MS), FIZ1 (Affinity Capture-MS), FIZ1 (Affinity Capture-MS), FIZ1 (Affinity Capture-MS), GTPBP4 (Affinity Capture-MS), FIZ1 (Affinity Capture-MS), FIZ1 (Affinity Capture-MS), FIZ1 (Reconstituted Complex), FIZ1 (Two-hybrid), FIZ1 (Reconstituted Complex), FIZ1 (Affinity Capture-MS)

ESM2 similar proteins: A2CE44, A6NFI3, A6NM28, A8K8V0, O15370, O70218, O95201, P0CJ78, P10075, P10754, P28698, P70338, Q04890, Q07120, Q14V87, Q19A40, Q569E7, Q58DK7, Q5DWN0, Q5FWU5, Q5RJR4, Q5T619, Q5TEC3, Q6DD87, Q6IQX8, Q6PD29, Q6PGE4, Q6ZMY9, Q7Z7K2, Q80VM4, Q8BIF9, Q8JZL0, Q8N8E2, Q8NAF0, Q8NCA9, Q8TD94, Q8WUU4, Q96C55, Q96H86, Q96MX3

Diamond homologs: Q96SL8, Q9WTJ4, G5EBU4, O60315, P28166, P36197, Q569E7, Q5TEC3, Q60542, Q62947, Q64318, Q8CJ78, Q9NSD4, Q9R0G7, Q3B7M4

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
FIZ1	“up-regulates activity”	NRL	binding
FIZ1	“down-regulates activity”	CRX	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

974 predictions. Top by Δscore:

Variant	Effect	Δscore
19:55597567:CTCA:C	donor_loss	1.0000
19:55597568:TCACC:T	donor_loss	1.0000
19:55597569:CAC:C	donor_loss	1.0000
19:55597570:A:C	donor_loss	1.0000
19:55597571:C:CA	donor_loss	1.0000
19:55602074:GCT:G	acceptor_gain	1.0000
19:55593645:ACCT:A	acceptor_loss	0.9900
19:55593646:CCTAG:C	acceptor_loss	0.9900
19:55593647:CTA:C	acceptor_loss	0.9900
19:55593648:T:A	acceptor_loss	0.9900
19:55597570:A:AC	donor_gain	0.9900
19:55597571:C:CC	donor_gain	0.9900
19:55597571:CCTG:C	donor_gain	0.9900
19:55597898:CTCT:C	acceptor_gain	0.9900
19:55597900:CT:C	acceptor_gain	0.9900
19:55597902:C:CC	acceptor_gain	0.9900
19:55597907:G:C	acceptor_gain	0.9900
19:55597907:G:GC	acceptor_gain	0.9900
19:55597910:G:C	acceptor_gain	0.9900
19:55597910:G:GC	acceptor_gain	0.9900
19:55599456:T:A	donor_gain	0.9900
19:55599472:A:AC	donor_gain	0.9900
19:55599473:C:CC	donor_gain	0.9900
19:55599473:CA:C	donor_gain	0.9900
19:55599473:CACCT:C	donor_gain	0.9900
19:55600406:G:GT	donor_gain	0.9900
19:55600406:GAGGT:G	donor_loss	0.9900
19:55600408:GGT:G	donor_loss	0.9900
19:55600410:T:A	donor_loss	0.9900
19:55602070:CTTA:C	acceptor_loss	0.9900

AlphaMissense

3164 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:55592504:G:C	F479L	1.000
19:55592504:G:T	F479L	1.000
19:55592505:A:G	F479S	1.000
19:55592506:A:G	F479L	1.000
19:55592527:A:G	C472R	1.000
19:55597602:G:C	F88L	1.000
19:55597602:G:T	F88L	1.000
19:55597604:A:G	F88L	1.000
19:55597659:G:C	H69Q	1.000
19:55597659:G:T	H69Q	1.000
19:55597661:G:C	H69D	1.000
19:55597686:G:C	F60L	1.000
19:55597686:G:T	F60L	1.000
19:55597688:A:G	F60L	1.000
19:55597770:G:C	F32L	1.000
19:55597770:G:T	F32L	1.000
19:55597772:A:G	F32L	1.000
19:55592475:A:G	L489P	0.999
19:55592477:G:C	H488Q	0.999
19:55592477:G:T	H488Q	0.999
19:55592479:G:C	H488D	0.999
19:55592479:G:T	H488N	0.999
19:55592487:A:G	L485P	0.999
19:55592516:G:C	C475W	0.999
19:55592517:C:G	C475S	0.999
19:55592517:C:T	C475Y	0.999
19:55592518:A:G	C475R	0.999
19:55592518:A:T	C475S	0.999
19:55592525:G:C	C472W	0.999
19:55592526:C:T	C472Y	0.999

dbSNP variants (sampled 300 via entrez): RS1000260260 (19:55597958 C>G), RS1000673695 (19:55593070 G>A), RS1000789791 (19:55591336 C>A,T), RS1001117180 (19:55597428 G>C), RS1001617875 (19:55591917 G>A), RS1001629665 (19:55594100 A>C), RS1001635941 (19:55598591 T>A,C), RS1001729206 (19:55598347 C>G), RS1001783282 (19:55598025 C>T), RS1001943232 (19:55594305 A>G), RS1002186086 (19:55599797 C>T), RS1003300949 (19:55593437 G>A,C), RS1003400159 (19:55599367 C>T), RS1003452696 (19:55599257 C>G), RS1003452832 (19:55600433 G>A)

Disease associations

OMIM: gene MIM:609133 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002127_26	Periodontitis (Mean PAL)	4.000000e-06
GCST010244_268	Triglyceride levels	5.000000e-17

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases methylation	2
TAK-243	increases sumoylation	1
butyraldehyde	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
K 7174	increases expression	1
abrine	increases expression	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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