ZNF691

Summary

ZNF691 (zinc finger protein 691, HGNC:28028) is a protein-coding gene on chromosome 1p34.2, encoding Zinc finger protein 691 (Q5VV52). May be involved in transcriptional regulation.

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

Source: NCBI Gene 51058 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_001242739

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28028
Approved symbol	ZNF691
Name	zinc finger protein 691
Location	1p34.2
Locus type	gene with protein product
Status	Approved
Aliases	Zfp691
Ensembl gene	ENSG00000164011
Ensembl biotype	protein_coding
Entrez	51058

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 17 protein_coding

ENST00000372502, ENST00000372503, ENST00000372504, ENST00000372506, ENST00000372507, ENST00000372508, ENST00000397034, ENST00000630961, ENST00000651192, ENST00000886192, ENST00000886193, ENST00000886194, ENST00000886195, ENST00000886196, ENST00000925308, ENST00000948352, ENST00000948353

RefSeq mRNA: 2 — MANE Select: NM_001242739 NM_001242739, NM_015911

CCDS: CCDS476, CCDS55595

Canonical transcript exons

ENST00000651192 — 4 exons

Exon	Start	End
ENSE00001457978	42849291	42849413
ENSE00001527102	42849565	42849742
ENSE00003474468	42850950	42852477
ENSE00003848131	42846613	42846657

Expression profiles

Bgee: expression breadth ubiquitous, 174 present calls, max score 87.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.9482 / max 81.3311, expressed in 1781 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2480	9.9482	1781

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.78	gold quality
right lobe of liver	UBERON:0001114	86.27	gold quality
apex of heart	UBERON:0002098	84.31	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.24	gold quality
right lobe of thyroid gland	UBERON:0001119	83.52	gold quality
right adrenal gland	UBERON:0001233	82.64	gold quality
right adrenal gland cortex	UBERON:0035827	82.44	gold quality
left lobe of thyroid gland	UBERON:0001120	82.15	gold quality
granulocyte	CL:0000094	81.98	gold quality
ventricular zone	UBERON:0003053	81.92	gold quality
thyroid gland	UBERON:0002046	81.61	gold quality
spleen	UBERON:0002106	81.59	gold quality
left adrenal gland	UBERON:0001234	81.50	gold quality
left adrenal gland cortex	UBERON:0035825	81.46	gold quality
body of uterus	UBERON:0009853	81.18	gold quality
smooth muscle tissue	UBERON:0001135	81.04	gold quality
lower esophagus muscularis layer	UBERON:0035833	80.95	gold quality
lower esophagus	UBERON:0013473	80.92	gold quality
stromal cell of endometrium	CL:0002255	80.91	gold quality
adrenal cortex	UBERON:0001235	80.83	gold quality
muscle layer of sigmoid colon	UBERON:0035805	80.80	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	80.74	gold quality
right ovary	UBERON:0002118	80.73	gold quality
mucosa of transverse colon	UBERON:0004991	80.70	gold quality
metanephros cortex	UBERON:0010533	80.70	gold quality
endocervix	UBERON:0000458	80.69	gold quality
ganglionic eminence	UBERON:0004023	80.61	gold quality
left ovary	UBERON:0002119	80.35	gold quality
lymph node	UBERON:0000029	80.18	gold quality
body of pancreas	UBERON:0001150	80.12	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

53 targeting ZNF691, 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-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-1275	99.47	67.90	2749

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp691	ENSMUSG00000045268

Paralogs (38): ZFX (ENSG00000005889), ZBTB11 (ENSG00000066422), ZFAT (ENSG00000066827), ZFY (ENSG00000067646), ZNF586 (ENSG00000083828), IKZF5 (ENSG00000095574), ZNF419 (ENSG00000105136), ZNF549 (ENSG00000121406), ZSCAN20 (ENSG00000121903), ZNF304 (ENSG00000131845), PRDM15 (ENSG00000141956), ZNF660 (ENSG00000144792), ZNF711 (ENSG00000147180), ZNF773 (ENSG00000152439), ZNF256 (ENSG00000152454), ZNF837 (ENSG00000152475), ZNF610 (ENSG00000167554), E4F1 (ENSG00000167967), ZNF562 (ENSG00000171466), ZNF561 (ENSG00000171469), ZNF584 (ENSG00000171574), ZIK1 (ENSG00000171649), ZNF570 (ENSG00000171827), ZSCAN2 (ENSG00000176371), ZNF552 (ENSG00000178935), ZNF154 (ENSG00000179909), ZNF792 (ENSG00000180884), ZNF793 (ENSG00000188227), ZNF548 (ENSG00000188785), ZNF79 (ENSG00000196152), ZNF418 (ENSG00000196724), ZNF772 (ENSG00000197128), ZNF583 (ENSG00000198440), ZNF480 (ENSG00000198464), ZNF551 (ENSG00000204519), ZNF134 (ENSG00000213762), ZNF587B (ENSG00000269343), ZNF8 (ENSG00000278129)

Protein

Protein identifiers

Zinc finger protein 691 — Q5VV52 (reviewed: Q5VV52)

All UniProt accessions (4): A0A0A0MRR1, Q5VV52, Q5VV50, Q5VV51

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.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5VV52-2	1	yes
Q5VV52-3	2

RefSeq proteins (2): NP_001229668, NP_056995 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF13465

UniProt features (17 total): zinc finger region 7, modified residue 3, compositionally biased region 2, chain 1, cross-link 1, splice variant 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VV52-F1	70.14	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 (4): 39, 75, 77, 113

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 77 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, RRAGTTGT_UNKNOWN, chr1p34, ACTWSNACTNY_UNKNOWN, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, IWANAGA_CARCINOGENESIS_BY_KRAS_PTEN_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES, HOXC6_TARGET_GENES, KAT2A_TARGET_GENES, PRKDC_TARGET_GENES, TEAD2_TARGET_GENES, ZFHX3_TARGET_GENES

GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), 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
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

486 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF691	CFAP144	A6NL82	399
ZNF691	RNF148	Q8N7C7	399
ZNF691	C1orf50	Q9BV19	395
ZNF691	FAM149A	A5PLN7	355
ZNF691	PEBP1	P30086	353
ZNF691	PNLIPRP3	Q17RR3	353
ZNF691	PNLIP	P16233	352
ZNF691	PNLIPRP1	P54315	352
ZNF691	UCP2	P55851	350
ZNF691	SRRT	Q9BXP5	343
ZNF691	PRDX6	P30041	334
ZNF691	USP39	Q53GS9	329
ZNF691	CCDC30	Q5VVM6	325
ZNF691	A0A2R8YGN2	A0A2R8YGN2	322
ZNF691	LCE5A	Q5TCM9	312

IntAct

19 interactions, top by confidence:

A	B	Type	Score
ZNF691	TRIM41	psi-mi:“MI:0915”(physical association)	0.560
ZNF691	PICK1	psi-mi:“MI:0915”(physical association)	0.560
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
ZNF691	H1-2	psi-mi:“MI:0915”(physical association)	0.400
AKT1	ZNF691	psi-mi:“MI:0915”(physical association)	0.370
ORF4a	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
ANOS1	ZNF724	psi-mi:“MI:0914”(association)	0.350
ZNF691	FPGT	psi-mi:“MI:0914”(association)	0.350
ZNF691	GDF9	psi-mi:“MI:0914”(association)	0.350
LMNA	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
FEV	TAF4	psi-mi:“MI:2364”(proximity)	0.270
SP7	IGF2BP3	psi-mi:“MI:2364”(proximity)	0.270
ZNF691	TRIM41	psi-mi:“MI:0915”(physical association)	0.000
ZNF691	PICK1	psi-mi:“MI:0915”(physical association)	0.000
ZNF691	HAP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (51): ZNF691 (Two-hybrid), ZNF691 (Affinity Capture-MS), ZNF691 (Proximity Label-MS), ZNF691 (Proximity Label-MS), HAP1 (Two-hybrid), ZNF691 (Two-hybrid), ZNF691 (Two-hybrid), ZNF691 (Proximity Label-MS), ZNF691 (Proximity Label-MS), ZNF691 (Proximity Label-MS), ZNF691 (Proximity Label-MS), ZNF691 (Proximity Label-MS), ZNF691 (Proximity Label-MS), ZNF691 (Proximity Label-MS), ZNF691 (Proximity Label-MS)

ESM2 similar proteins: A1YEV9, A1YG26, A1YG48, A1YG60, A2T712, A2T736, A2T7D2, A2T7L7, A6QPT6, B2KFW1, O14771, O14978, O95125, P10073, P17029, P17040, P59923, Q07231, Q15776, Q16587, Q1LZ87, Q3URR7, Q4KLI1, Q4R8H9, Q53GI3, Q5R670, Q5R741, Q5RJ54, Q5VV52, Q63HK3, Q6A085, Q86W11, Q8BGS3, Q8CF60, Q8IWY8, Q8N393, Q8NF99, Q91VW9, Q969J2, Q96GC6

Diamond homologs: Q17QR7, Q3TDE8, Q5VV52, A1L1L7, A1YEV9, A1YG26, A2T712, A2T7L7, B2KFW1, P17022, P18724, P18735, Q07231, Q6A085, Q8CF60, Q96BV0, Q9BXA9, Q9Y5A6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

561 predictions. Top by Δscore:

Variant	Effect	Δscore
1:42849367:C:CG	donor_gain	1.0000
1:42849367:C:G	donor_gain	1.0000
1:42846654:CGAGG:C	donor_loss	0.9900
1:42846655:GAGGT:G	donor_loss	0.9900
1:42846658:GTG:G	donor_loss	0.9900
1:42846659:T:G	donor_loss	0.9900
1:42849366:GC:G	donor_gain	0.9900
1:42849371:G:GG	donor_gain	0.9900
1:42849381:C:T	donor_gain	0.9900
1:42846784:G:T	donor_gain	0.9800
1:42846653:GCGAG:G	donor_gain	0.9700
1:42850948:AG:A	acceptor_gain	0.9700
1:42850949:GG:G	acceptor_gain	0.9700
1:42846784:G:GT	donor_gain	0.9600
1:42846658:G:GG	donor_gain	0.9100
1:42850947:CA:C	acceptor_loss	0.9100
1:42850948:A:G	acceptor_loss	0.9100
1:42849285:TCACA:T	acceptor_loss	0.9000
1:42849286:CACA:C	acceptor_loss	0.9000
1:42849288:CA:C	acceptor_loss	0.9000
1:42849289:AG:A	acceptor_gain	0.9000
1:42849290:G:GC	acceptor_loss	0.9000
1:42849290:GG:G	acceptor_gain	0.9000
1:42849740:GAG:G	donor_gain	0.8900
1:42849315:GTT:G	donor_gain	0.8800
1:42849564:GAA:G	acceptor_gain	0.8800
1:42849564:GAAAT:G	acceptor_gain	0.8800
1:42849660:T:G	acceptor_gain	0.8800
1:42850948:A:AG	acceptor_gain	0.8800
1:42850949:G:GG	acceptor_gain	0.8800

AlphaMissense

2083 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:42851487:T:C	F208L	1.000
1:42851489:C:A	F208L	1.000
1:42851489:C:G	F208L	1.000
1:42851319:T:C	F152L	0.999
1:42851321:C:A	F152L	0.999
1:42851321:C:G	F152L	0.999
1:42851403:T:C	F180L	0.999
1:42851405:T:A	F180L	0.999
1:42851405:T:G	F180L	0.999
1:42851571:T:C	F236L	0.999
1:42851573:C:A	F236L	0.999
1:42851573:C:G	F236L	0.999
1:42851655:T:C	F264L	0.999
1:42851657:C:A	F264L	0.999
1:42851657:C:G	F264L	0.999
1:42851739:T:C	F292L	0.999
1:42851741:C:A	F292L	0.999
1:42851741:C:G	F292L	0.999
1:42851758:T:C	L298P	0.999
1:42851235:T:C	F124L	0.998
1:42851237:C:A	F124L	0.998
1:42851237:C:G	F124L	0.998
1:42851269:G:C	R135P	0.998
1:42851422:T:C	L186P	0.998
1:42851605:G:C	R247P	0.998
1:42851689:G:C	R275P	0.998
1:42851746:G:C	R294P	0.998
1:42851254:T:C	L130P	0.997
1:42851264:C:A	H133Q	0.997
1:42851264:C:G	H133Q	0.997

dbSNP variants (sampled 300 via entrez): RS1000135457 (1:42846974 G>A,C,T), RS1000736104 (1:42848291 G>A), RS1000892530 (1:42845194 A>G), RS1000941393 (1:42845350 T>C), RS1001189350 (1:42848024 T>C), RS1001238607 (1:42850376 G>T), RS1002335351 (1:42850775 T>C), RS1002670861 (1:42852322 G>T), RS1002955464 (1:42846767 C>T), RS1003077105 (1:42844683 G>A), RS1003140483 (1:42850504 A>G,T), RS1003644866 (1:42850236 C>G,T), RS1004119618 (1:42844654 C>A), RS1004172373 (1:42845100 G>A), RS1004420871 (1:42850018 A>G)

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

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
bisphenol A	decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
ferrous chloride	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
jinfukang	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	increases phosphorylation	1
Cisplatin	increases expression	1
Doxorubicin	decreases expression	1
Ozone	affects expression, increases abundance	1
Potassium Chloride	decreases expression, decreases response to substance	1
Dronabinol	decreases expression, decreases response to substance	1
Thiram	decreases expression	1
Valproic Acid	decreases methylation	1
Vincristine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1
Particulate Matter	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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