ZNF571

Summary

ZNF571 (zinc finger protein 571, HGNC:25000) is a protein-coding gene on chromosome 19q13.12, encoding Zinc finger protein 571 (Q7Z3V5). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleus.

Source: NCBI Gene 51276 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_016536

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25000
Approved symbol	ZNF571
Name	zinc finger protein 571
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	HSPC059
Ensembl gene	ENSG00000180479
Ensembl biotype	protein_coding
Entrez	51276

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000358744, ENST00000451802, ENST00000590390, ENST00000590751, ENST00000593133, ENST00000866821, ENST00000866822, ENST00000931148, ENST00000942645

RefSeq mRNA: 3 — MANE Select: NM_016536 NM_001290314, NM_001321272, NM_016536

CCDS: CCDS12505

Canonical transcript exons

ENST00000451802 — 4 exons

Exon	Start	End
ENSE00001057020	37586668	37586745
ENSE00001433241	37583971	37584097
ENSE00001675163	37594741	37594792
ENSE00002752678	37564260	37566291

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 92.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.8075 / max 54.2742, expressed in 1050 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180718	2.5402	1037
180721	0.1566	64
180720	0.0924	46
180719	0.0184	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	92.08	gold quality
oocyte	CL:0000023	89.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.56	gold quality
right lobe of thyroid gland	UBERON:0001119	86.28	gold quality
left lobe of thyroid gland	UBERON:0001120	85.39	gold quality
thyroid gland	UBERON:0002046	83.70	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.87	gold quality
sural nerve	UBERON:0015488	80.35	gold quality
ganglionic eminence	UBERON:0004023	79.50	gold quality
calcaneal tendon	UBERON:0003701	78.55	gold quality
cortical plate	UBERON:0005343	78.49	gold quality
right testis	UBERON:0004534	77.99	gold quality
adrenal tissue	UBERON:0018303	77.88	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	77.18	gold quality
left testis	UBERON:0004533	77.14	gold quality
adenohypophysis	UBERON:0002196	76.52	gold quality
islet of Langerhans	UBERON:0000006	76.35	gold quality
right uterine tube	UBERON:0001302	76.32	gold quality
left ovary	UBERON:0002119	76.26	gold quality
testis	UBERON:0000473	76.10	gold quality
right adrenal gland cortex	UBERON:0035827	75.90	gold quality
ventricular zone	UBERON:0003053	75.84	gold quality
right ovary	UBERON:0002118	75.77	gold quality
right adrenal gland	UBERON:0001233	75.60	gold quality
cerebellar hemisphere	UBERON:0002245	75.36	gold quality
pituitary gland	UBERON:0000007	75.33	gold quality
cerebellar cortex	UBERON:0002129	75.31	gold quality
popliteal artery	UBERON:0002250	75.17	gold quality
tibial artery	UBERON:0007610	75.16	gold quality
left adrenal gland cortex	UBERON:0035825	75.02	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-109979	yes	269.27
E-MTAB-7249	yes	11.14
E-ANND-3	no	4.54

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
HP
TRIM28

miRNA regulators (miRDB)

39 targeting ZNF571, 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-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3924	100.00	72.09	2394
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-144-3P	99.94	73.98	2698
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-651-5P	99.64	68.49	1104
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-4528	99.18	69.77	1936
HSA-MIR-4699-5P	98.99	67.50	1210
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-1245B-5P	98.88	66.55	576
HSA-MIR-3142	98.88	66.09	529
HSA-MIR-4716-5P	98.82	68.57	1168
HSA-MIR-16-1-3P	98.70	69.23	1538
HSA-MIR-4303	98.01	68.13	2304

Cross-species orthologs

0 orthologs

Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)

Protein

Protein identifiers

Zinc finger protein 571 — Q7Z3V5 (reviewed: Q7Z3V5)

All UniProt accessions (3): Q7Z3V5, K7ELU5, K7ERB9

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (3): NP_001277243, NP_001308201, NP_057620* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001909	KRAB	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036051	KRAB_dom_sf	Homologous_superfamily
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF01352

UniProt features (26 total): zinc finger region 17, sequence variant 5, sequence conflict 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z3V5-F1	75.02	0.36

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 82 (showing top): RHEIN_ALL_GLUCOCORTICOID_THERAPY_UP, STAT1_02, YKACATTT_UNKNOWN, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, OKUMURA_INFLAMMATORY_RESPONSE_LPS, STAT1_03, ZHOU_INFLAMMATORY_RESPONSE_FIMA_DN, IL15_UP.V1_DN, IL2_UP.V1_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, NCOA6_TARGET_GENES, PAX3_TARGET_GENES, SKP2_TARGET_GENES, ZHONG_RESPONSE_TO_AZACITIDINE_AND_TSA_UP

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

264 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF571	C12orf42	Q96LP6	475
ZNF571	KAT8	Q9H7Z6	443
ZNF571	NKAPL	Q5M9Q1	323
ZNF571	SHISA6	Q6ZSJ9	310
ZNF571	GPR75	O95800	305
ZNF571	F6S8H2	F6S8H2	295
ZNF571	PCDHAC2	Q9Y5I4	290
ZNF571	TEX261	Q6UWH6	270
ZNF571	TBC1D2	Q9BYX2	270
ZNF571	PCDHA1	Q9Y5I3	270
ZNF571	TRIM58	Q8NG06	268
ZNF571	ZNF646	O15015	267
ZNF571	PGBD1	Q96JS3	264
ZNF571	TMEM100	Q9NV29	259
ZNF571	AJAP1	Q9UKB5	259

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ZNF571	HERC1	psi-mi:“MI:0914”(association)	0.530
ZNF571	CBX3	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): CSTF2T (Affinity Capture-MS), HERC1 (Affinity Capture-MS), ZNF571 (Affinity Capture-RNA), ZNF571 (Affinity Capture-RNA), CSTF2T (Affinity Capture-MS), HERC1 (Affinity Capture-MS), ZNF571 (Affinity Capture-MS)

ESM2 similar proteins: A0JNB1, A6QLU5, O75123, O75820, P10076, P10755, P16374, P17031, P17097, P17141, P51814, Q02975, Q08ER8, Q14588, Q14590, Q32KN0, Q3V080, Q4V8A8, Q5CZA5, Q5R4K8, Q5R5Q6, Q5R9S5, Q5RBX0, Q61751, Q6GQR8, Q6P560, Q6ZMS4, Q7TSH9, Q7TSI0, Q7Z3I7, Q7Z3V5, Q8BLB0, Q8N141, Q8N184, Q8N823, Q8N8J6, Q8N9F8, Q8TBZ5, Q8TF47, Q96ND8

Diamond homologs: A0A1W2PQL4, A2RRD8, A2VDQ7, A6NHJ4, A6NK75, A6NN14, A6NNF4, A6NP11, B4DX44, B4DXR9, E9PW05, O14628, O43345, O75290, O75346, O75373, O75820, P0CB33, P0CJ79, P0DKX0, P10755, P17032, P17035, P52738, Q02386, Q03923, Q03936, Q05481, Q08AN1, Q09FC8, Q0VGE8, Q14586, Q14593, Q147U1, Q15928, Q3MIS6, Q3SXZ3, Q494X3, Q4R6C2, Q5HY98

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1193 predictions. Top by Δscore:

Variant	Effect	Δscore
19:37583964:ATCTT:A	donor_loss	1.0000
19:37583966:CTTA:C	donor_loss	1.0000
19:37583967:TTACC:T	donor_loss	1.0000
19:37583968:TA:T	donor_loss	1.0000
19:37583969:A:AC	donor_gain	1.0000
19:37583969:AC:A	donor_gain	1.0000
19:37583970:C:CC	donor_gain	1.0000
19:37583970:CC:C	donor_gain	1.0000
19:37584095:CAA:C	acceptor_gain	1.0000
19:37586746:C:CC	acceptor_gain	1.0000
19:37566289:AGTCT:A	acceptor_loss	0.9900
19:37566290:GTC:G	acceptor_loss	0.9900
19:37566292:C:CC	acceptor_gain	0.9900
19:37583970:CCCA:C	donor_gain	0.9900
19:37584098:C:CC	acceptor_gain	0.9900
19:37586666:A:AC	donor_gain	0.9900
19:37586667:C:CC	donor_gain	0.9900
19:37586741:CAGTG:C	acceptor_gain	0.9900
19:37586744:TG:T	acceptor_gain	0.9900
19:37594219:CT:C	donor_gain	0.9900
19:37594737:TCACC:T	donor_loss	0.9900
19:37594738:CACCT:C	donor_loss	0.9900
19:37594739:ACCTG:A	donor_loss	0.9900
19:37594740:C:G	donor_loss	0.9900
19:37566287:CAAGT:C	acceptor_gain	0.9800
19:37566293:T:A	acceptor_loss	0.9800
19:37583951:A:AC	donor_gain	0.9800
19:37586743:GTG:G	acceptor_gain	0.9800
19:37591444:C:CA	acceptor_gain	0.9800
19:37594218:A:AC	donor_gain	0.9800

AlphaMissense

4076 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:37565480:A:C	F316L	0.996
19:37565480:A:T	F316L	0.996
19:37565482:A:G	F316L	0.996
19:37565648:A:C	F260L	0.995
19:37565648:A:T	F260L	0.995
19:37565650:A:G	F260L	0.995
19:37565396:A:C	F344L	0.994
19:37565396:A:T	F344L	0.994
19:37565398:A:G	F344L	0.994
19:37565564:A:C	F288L	0.994
19:37565564:A:T	F288L	0.994
19:37565566:A:G	F288L	0.994
19:37564895:A:C	F511L	0.993
19:37564895:A:T	F511L	0.993
19:37564897:A:G	F511L	0.993
19:37565228:A:C	F400L	0.993
19:37565228:A:T	F400L	0.993
19:37565230:A:G	F400L	0.993
19:37565455:G:C	H325D	0.993
19:37565463:A:G	L322P	0.992
19:37564811:A:C	F539L	0.991
19:37564811:A:T	F539L	0.991
19:37564813:A:G	F539L	0.991
19:37565144:A:C	F428L	0.991
19:37565144:A:T	F428L	0.991
19:37565146:A:G	F428L	0.991
19:37565211:A:G	L406P	0.991
19:37565732:A:C	F232L	0.991
19:37565732:A:T	F232L	0.991
19:37565734:A:G	F232L	0.991

dbSNP variants (sampled 300 via entrez): RS1000105307 (19:37567646 G>T), RS1000136509 (19:37567366 C>T), RS1000367235 (19:37588246 T>A), RS1000381410 (19:37581350 C>G,T), RS1000412419 (19:37580952 C>T), RS1000497753 (19:37594309 G>A), RS1000569991 (19:37593994 C>A), RS1000580173 (19:37573617 A>G), RS1000729152 (19:37574168 T>A), RS1000732555 (19:37566219 C>T), RS1000800438 (19:37587856 C>A,T), RS1001110696 (19:37569163 G>A), RS1001141692 (19:37568799 T>C,G), RS1001164030 (19:37580578 G>A), RS1001203604 (19:37567018 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

2 associations (top):

Study	Trait	p-value
GCST010002_55	Refractive error	7.000000e-09
GCST012048_20	Triglyceride levels	2.000000e-07

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

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	2
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
geraniol	increases expression	1
methylparaben	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Cisplatin	decreases expression	1
Formaldehyde	decreases expression	1
Valproic Acid	decreases expression	1
Aflatoxin M1	decreases expression	1
Gold Compounds	decreases expression	1
Magnetite Nanoparticles	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_XW65	HEK293 eGFP-ZNF571	Transformed cell line	Female

Clinical trials (associated diseases)

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