OVOL1

Summary

OVOL1 (ovo like transcriptional repressor 1, HGNC:8525) is a protein-coding gene on chromosome 11q13.1, encoding Putative transcription factor Ovo-like 1 (O14753). Putative transcription factor.

This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well.

Source: NCBI Gene 5017 — RefSeq curated summary.

At a glance

• GWAS associations: 49 (top 2% of genes corpus-wide)
• Clinical variants (ClinVar): 38 total
• GTEx eGene: eQTL in 23 tissues, sQTL in 2 (q < 0.05)
• Constraint (gnomAD): pLI 0.01 (LoF-tolerant), LOEUF 0.87 (unconstrained)
• Transcription factor: yes — 10 downstream targets (CollecTRI)
• MANE Select transcript: NM_004561

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8525
Approved symbol	OVOL1
Name	ovo like transcriptional repressor 1
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	HOVO1
Ensembl gene	ENSG00000172818
Ensembl biotype	protein_coding
OMIM	602313
Entrez	5017

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

MANE Select: ENST00000335987

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 4: 1

ENST00000335987, ENST00000531907, ENST00000532448, ENST00000907450, ENST00000982193, ENST00001138136

RefSeq mRNA: 1 — MANE Select: NM_004561 NM_004561

CCDS: CCDS8112

Canonical transcript exons

ENST00000335987 — 4 exons

Exon	Start	End
ENSE00001190835	65794538	65794727
ENSE00001337155	65787063	65787473
ENSE00001344446	65795046	65797214
ENSE00001344451	65794031	65794248

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 96.60.

FANTOM5 (CAGE): breadth broad, TPM avg 4.5767 / max 153.6737, expressed in 459 samples.

Highest expression (Bgee): gingival epithelium, upper leg skin, esophagus squamous epithelium, gingiva, pharyngeal mucosa.

Genetic regulation across tissues (GTEx eQTL / sQTL)

OVOL1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 23 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 25 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells EBV-transformed lymphocytes	eqtl	7.5e-34	-0.76	11:65791795:A:G
Testis	sqtl	2.1e-27	+0.99	11:65756781:C:A
Brain Cerebellar Hemisphere	eqtl	3.0e-19	+0.74	11:65727740:G:A
Thyroid	eqtl	4.7e-18	-0.36	11:65789645:T:TG
Brain Cerebellum	eqtl	7.9e-16	+0.74	11:65727740:G:A
Brain Cortex	eqtl	6.5e-11	+0.71	11:65727740:G:A
Pancreas	eqtl	1.2e-08	+0.38	11:65817786:C:A
Brain Nucleus accumbens basal ganglia	eqtl	4.4e-07	+0.89	11:65785051:C:T
Brain Frontal Cortex BA9	eqtl	5.6e-07	+0.61	11:65727740:G:A
Brain Caudate basal ganglia	eqtl	1.1e-05	+0.88	11:65758711:G:A
Brain Putamen basal ganglia	eqtl	1.0e-04	+0.44	11:65789645:T:TG
Brain Hippocampus	eqtl	2.7e-04	+0.87	11:65785051:C:T
Brain Anterior cingulate cortex BA24	eqtl	4.9e-04	+0.48	11:65784177:G:A
Brain Hypothalamus	eqtl	1.2e-03	+0.51	11:65763638:C:G
Testis	eqtl	5.3e-03	+0.38	11:65628151:G:A
Colon Transverse	sqtl	5.4e-03	-1.29	11:66429081:A:G
Whole Blood	eqtl	8.7e-03	-0.27	11:65912364:G:A
Prostate	eqtl	2.4e-02	+0.85	11:65372161:C:A
Vagina	eqtl	2.6e-02	-0.85	11:65615838:AC:A
Esophagus Mucosa	eqtl	2.6e-02	-0.12	11:65857091:A:C

FANTOM5 promoters

6 alternative TSS:

Promoter ID	TPM avg	Samples expressed
115208	2.7980	418
115209	1.7134	302
115213	0.0230	8
115210	0.0168	3
115212	0.0138	3
115211	0.0118	3

Top tissues by expression

showing 100 of 268 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gingival epithelium	UBERON:0001949	96.60	gold quality
upper leg skin	UBERON:0004262	96.47	gold quality
esophagus squamous epithelium	UBERON:0006920	95.95	gold quality
gingiva	UBERON:0001828	95.61	gold quality
pharyngeal mucosa	UBERON:0000355	95.14	gold quality
lower esophagus mucosa	UBERON:0035834	94.83	gold quality
amniotic fluid	UBERON:0000173	92.33	gold quality
penis	UBERON:0000989	92.26	gold quality
esophagus mucosa	UBERON:0002469	91.49	gold quality
skin of abdomen	UBERON:0001416	91.38	gold quality
oral cavity	UBERON:0000167	91.36	gold quality
squamous epithelium	UBERON:0006914	91.35	gold quality
epithelium of esophagus	UBERON:0001976	91.15	gold quality
sperm	CL:0000019	90.80	gold quality
left testis	UBERON:0004533	89.84	gold quality
right testis	UBERON:0004534	89.52	gold quality
skin of leg	UBERON:0001511	89.47	gold quality
zone of skin	UBERON:0000014	89.24	gold quality
nipple	UBERON:0002030	88.61	gold quality
male germ cell	CL:0000015	88.23	gold quality
colonic mucosa	UBERON:0000317	88.04	gold quality
mucosa of sigmoid colon	UBERON:0004993	87.98	gold quality
jejunal mucosa	UBERON:0000399	87.65	gold quality
skin of hip	UBERON:0001554	87.02	gold quality
testis	UBERON:0000473	86.93	gold quality
mucosa of transverse colon	UBERON:0004991	86.86	gold quality
mammalian vulva	UBERON:0000997	86.21	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.12	gold quality
body of tongue	UBERON:0011876	83.05	gold quality
buccal mucosa cell	CL:0002336	82.63	gold quality
duodenum	UBERON:0002114	82.32	gold quality
upper arm skin	UBERON:0004263	80.41	gold quality
endometrium epithelium	UBERON:0004811	80.31	gold quality
ileal mucosa	UBERON:0000331	79.86	silver quality
tongue	UBERON:0001723	79.06	gold quality
adult organism	UBERON:0007023	79.04	gold quality
parotid gland	UBERON:0001831	78.98	silver quality
placenta	UBERON:0001987	78.57	gold quality
jejunum	UBERON:0002115	78.34	gold quality
rectum	UBERON:0001052	77.85	gold quality
superior surface of tongue	UBERON:0007371	77.08	gold quality
tonsil	UBERON:0002372	76.85	gold quality
cervix squamous epithelium	UBERON:0006922	76.55	gold quality
palpebral conjunctiva	UBERON:0001812	75.71	gold quality
transverse colon	UBERON:0001157	75.68	gold quality
vagina	UBERON:0000996	75.65	gold quality
urinary bladder	UBERON:0001255	74.90	gold quality
epithelium of nasopharynx	UBERON:0001951	74.07	gold quality
mouth mucosa	UBERON:0003729	73.63	gold quality
adult mammalian kidney	UBERON:0000082	72.83	gold quality
renal medulla	UBERON:0000362	71.91	gold quality
saliva-secreting gland	UBERON:0001044	71.83	gold quality
seminal vesicle	UBERON:0000998	71.43	gold quality
mammary duct	UBERON:0001765	71.36	silver quality
metanephros cortex	UBERON:0010533	71.32	gold quality
small intestine	UBERON:0002108	70.81	gold quality
minor salivary gland	UBERON:0001830	70.55	gold quality
epithelium of mammary gland	UBERON:0003244	69.75	silver quality
small intestine Peyer’s patch	UBERON:0003454	69.73	gold quality
cerebellar vermis	UBERON:0004720	69.42	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	69.23	gold quality
trachea	UBERON:0003126	68.52	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	67.55	gold quality
kidney	UBERON:0002113	67.33	gold quality
intestine	UBERON:0000160	66.93	gold quality
nasal cavity mucosa	UBERON:0001826	66.87	gold quality
Brodmann (1909) area 10	UBERON:0013541	66.79	gold quality
esophagus	UBERON:0001043	66.50	gold quality
large intestine	UBERON:0000059	65.70	gold quality
urethra	UBERON:0000057	65.44	gold quality
body of pancreas	UBERON:0001150	65.29	gold quality
colon	UBERON:0001155	64.98	gold quality
tibialis anterior	UBERON:0001385	64.52	silver quality
pancreas	UBERON:0001264	63.65	gold quality
saphenous vein	UBERON:0007318	62.91	gold quality
pericardium	UBERON:0002407	62.71	gold quality
mammary gland	UBERON:0001911	62.70	gold quality
oocyte	CL:0000023	62.62	gold quality
thoracic mammary gland	UBERON:0005200	62.56	gold quality
inferior vagus X ganglion	UBERON:0005363	62.56	gold quality
endothelial cell	CL:0000115	62.46	gold quality
cardia of stomach	UBERON:0001162	62.32	gold quality
synovial joint	UBERON:0002217	62.21	gold quality
subthalamic nucleus	UBERON:0001906	62.19	gold quality
bronchial epithelial cell	CL:0002328	62.18	silver quality
pons	UBERON:0000988	62.13	gold quality
pylorus	UBERON:0001166	62.10	gold quality
dorsal root ganglion	UBERON:0000044	62.03	gold quality
lateral globus pallidus	UBERON:0002476	61.97	gold quality
uterine cervix	UBERON:0000002	61.93	gold quality
substantia nigra pars reticulata	UBERON:0001966	61.89	gold quality
lateral nuclear group of thalamus	UBERON:0002736	61.84	gold quality
substantia nigra pars compacta	UBERON:0001965	61.79	gold quality
ventral tegmental area	UBERON:0002691	61.72	gold quality
superior vestibular nucleus	UBERON:0007227	61.70	gold quality
colonic epithelium	UBERON:0000397	61.67	silver quality
vena cava	UBERON:0004087	61.61	gold quality
dorsal plus ventral thalamus	UBERON:0001897	61.60	gold quality
trigeminal ganglion	UBERON:0001675	61.55	gold quality
layer of synovial tissue	UBERON:0007616	60.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 68 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Esophagus	tissue	32.6	high
Skin 1	tissue	27.0	not detected
Urinary bladder	tissue	25.6	not detected
Vagina	tissue	20.2	high
Testis	tissue	17.6	not detected
Duodenum	tissue	14.6	not detected
Parathyroid gland	tissue	14.1	not detected
Colon	tissue	9.7	not detected
Pancreas	tissue	8.6	not detected
Small intestine	tissue	8.6	not detected
Rectum	tissue	7.8	not detected
Placenta	tissue	6.5	not detected
Salivary gland	tissue	5.5	not detected
Tonsil	tissue	5.1	low
Kidney	tissue	3.2	not detected
Breast	tissue	2.6	not detected
Midbrain	tissue	1.6
Medulla oblongata	tissue	1.6
Substantia nigra	tissue	1.6
Corpus callosum	tissue	1.6
Pons	tissue	1.5
Thalamus	tissue	1.4
Periaqueductal gray	tissue	1.4
Cerebral cortex	tissue	1.3	low
Motor cortex	tissue	1.3
Hypothalamus	tissue	1.3
Superior colliculi	tissue	1.3
Thyroid gland	tissue	1.3	not detected
Spinal cord	tissue	1.3
Prefrontal cortex	tissue	1.2
Hippocampal formation	tissue	1.2
Ventral forebrain	tissue	1.2
Somatosensory cortex	tissue	1.2
Putamen	tissue	1.1
Prostate	tissue	1.1	high
Entorhinal cortex	tissue	1.1
Retrosplenial and cingulate cortex	tissue	1.1
Septum	tissue	1.1
Retrosplenial cortex	tissue	1.1
Occipital cortex	tissue	1.1
Insular cortex	tissue	1.1
Amygdala	tissue	1.0
Appendix	tissue	1.0	not detected
Temporal cortex	tissue	1.0
Seminal vesicle	tissue	0.9	not detected
Gallbladder	tissue	0.9	not detected
Basal ganglia	tissue	0.8	medium
Cervix	tissue	0.6	high
Stomach 1	tissue	0.6	low
Cerebellum	tissue	0.6	medium
Fallopian tube	tissue	0.6	not detected
Endometrium 1	tissue	0.5	not detected
Olfactory bulb	tissue	0.5
Thymus	tissue	0.4
Smooth muscle	tissue	0.3	not detected
Nucleus accumbens	tissue	0.3
Lung	tissue	0.3	low
Postcentral gyrus	tissue	0.2
Pituitary gland	tissue	0.1
Retina	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 187; highest nTPM — White matter (1.6), Dorsal spinal cord (1.3), Subiculum (1.2), Ventral spinal cord (1.2), Dorsal hippocampus (1.0).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

10 targets:

Target	Regulation
CDH2
CHUK
GADD45A
GADD45B
ID2
LEMD3
MYC	Repression
OVOL1	Repression
OVOL2	Repression
SGK1

JASPAR motifs

Motif	Name	Family
MA1544.1	OVOL1	More than 3 adjacent zinc fingers
MA1544.2	OVOL1	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:26504231

Upstream regulators (CollecTRI, top): IRF6, LEF1, MYB, MYC, NEUROG3, OVOL1

miRNA regulators (miRDB)

Targeting OVOL1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 71 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1284	99.67	73.56	1353

Functional genomics

gnomAD constraint: pLI 0.00796, LOEUF 0.871, missense Z 1.63 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000335987 — one region, missense o/e 0.77.

Literature-anchored findings (GeneRIF, showing 13)

• Molecular phylogeny of OVOL1, OVOL2 and OVOL3 genes illustrates a conserved C2H2 zinc finger domain coupled by hypervariable unstructured regions in humans and other species (PMID:22737237)
• Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients (PMID:23278845)
• OVOL1 may play an important role in human skin morphogenesis and tumorigenesis. (PMID:25509883)
• KIF3A and OVOL1 are involved in the development of Atopic dermatitis in the Chinese pediatric population. (PMID:26127003)
• OVOL1 is a regulator of trophoblast progenitor cell fate during human trophoblast development. (PMID:26504231)
• that the OVOL1-OVOL2 axis may actively contribute to cell differentiation and proliferation in the hair bulb (PMID:26873447)
• Taken together, this study suggests that the OVOL1-OVOL2 axis is a key modulator of c-Myc expression in the shift from in situ epidermal malignancy (Bowen’s disease) to invasive squamous cell carcinoma. (PMID:28339425)
• OVOL1 is an integral part of the aryl hydrocarbon receptor-mediated mechanism of Filaggrin expression in human keratinocytes. (PMID:28703805)
• The transcription factor OVOL1 as a potential regulator of an alternative epithelial cell fate. (PMID:30639212)
• OVOL1 Regulates Psoriasis-Like Skin Inflammation and Epidermal Hyperplasia. (PMID:33333123)
• Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population. (PMID:35078690)
• OVOL1 inhibits breast cancer cell invasion by enhancing the degradation of TGF-beta type I receptor. (PMID:35484112)
• Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis. (PMID:38907248)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ovol1	ENSMUSG00000024922
rattus_norvegicus	Ovol1	ENSRNOG00000020669
drosophila_melanogaster	ovo	FBGN0003028

Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), ZNF174 (ENSG00000103343), OVOL3 (ENSG00000105261), PLAGL1 (ENSG00000118495), ZSCAN18 (ENSG00000121413), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), PLAGL2 (ENSG00000126003), ZSCAN5A (ENSG00000131848), ZSCAN29 (ENSG00000140265), ZSCAN32 (ENSG00000140987), ZSCAN1 (ENSG00000152467), ZNF18 (ENSG00000154957), ZKSCAN2 (ENSG00000155592), ZNF496 (ENSG00000162714), ZNF202 (ENSG00000166261), ZNF641 (ENSG00000167528), ZNF444 (ENSG00000167685), SCAND1 (ENSG00000171222), ZNF274 (ENSG00000171606), ZNF131 (ENSG00000172262), ZNF518A (ENSG00000177853), ZNF518B (ENSG00000178163), PLAG1 (ENSG00000181690), ZSCAN5B (ENSG00000197213), ZNF770 (ENSG00000198146), PEG3 (ENSG00000198300), ZSCAN5C (ENSG00000204532)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1330290) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 34 distinct phenotype terms.

Mouse phenotype (MP)	Records
kidney cyst	2
decreased hematocrit	1
splitting of guard hairs	1
abnormal awl hair morphology	1
abnormal auchene hair morphology	1
ruffled hair	1
kidney cortex cyst	1
dilated uterus	1
dilated uterine cervix	1
constricted vagina orifice	1
vagina atresia	1
abnormal testis morphology	1
small testis	1
small seminiferous tubules	1
seminiferous tubule degeneration	1
abnormal spermatogenesis	1
abnormal skin condition	1
decreased body weight	1
decreased body size	1
reduced male fertility	1
reduced female fertility	1
abnormal coat/hair pigmentation	1
abnormal vibrissa morphology	1
abnormal kidney morphology	1
impaired skin barrier function	1

+9 more (showing top 25).

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	A2VDT4	94.0%	Diamond
Caenorhabditis elegans	G5EDU6	75.0%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
CFL1	protein-coding	1072
SNX32	protein-coding	254122
AP5B1	protein-coding	91056
OVOL1-AS1	ncRNA	101927828
CTSW	protein-coding	1521
EFEMP2	protein-coding	30008
MUS81	protein-coding	80198
FIBP	protein-coding	9158
KAT5	protein-coding	10524
RNASEH2C	protein-coding	84153

Protein

Protein identifiers

Putative transcription factor Ovo-like 1 — O14753 (reviewed: O14753)

All UniProt accessions (2): O14753, G3V1B0

UniProt curated annotations — full annotation on UniProt →

Function. Putative transcription factor. Involved in hair formation and spermatogenesis. May function in the differentiation and/or maintenance of the urogenital system.

Subcellular location. Nucleus.

Tissue specificity. Expressed in fetal kidney, and also in adult pancreas and placenta. Not expressed in intestine, peripheral blood lymphocytes and ovary.

RefSeq proteins (1): NP_004552* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Zf-C2H2_type	Domain
IPR027756	Ovo-like	Family
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF13465

UniProt features (6 total): zinc finger region 4, chain 1, sequence conflict 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14753-F1	60.86	0.03

Human Protein Atlas

Protein class: Predicted intracellular proteins, Transcription factors, Zinc-coordinating DNA-binding domains

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH uncertain · IF approved

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 181 (showing top): RNGTGGGC_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, PEREZ_TP63_TARGETS, ENK_UV_RESPONSE_KERATINOCYTE_UP, GCANCTGNY_MYOD_Q6, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MALE_GAMETE_GENERATION, GOBP_REGULATION_OF_MEIOTIC_CELL_CYCLE, CHX10_01, chr11q13

GO Biological Process (4): DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), epidermal cell differentiation (GO:0009913), negative regulation of transcription by RNA polymerase II (GO:0000122)

GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

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

GO top-level categories

22 GO namespaces:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
gene expression	1
RNA biosynthetic process	1
regulation of DNA-templated transcription	1
epidermis development	1
epithelial cell differentiation	1
negative regulation of DNA-templated transcription	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
transition metal ion binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 13 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
sequence-specific double-stranded DNA binding	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 747 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OVOL1	GRHL3	Q8TE85	605
OVOL1	GRHL2	Q6ISB3	595
OVOL1	ACTL9	Q8TC94	570
OVOL1	FLG	P20930	535
OVOL1	GRHL1	Q9NZI5	534
OVOL1	LORICRIN	P23490	498
OVOL1	AP5B1	Q2VPB7	493
OVOL1	IRF6	O14896	474
OVOL1	GCM1	Q9NP62	466
OVOL1	ZNF750	Q32MQ0	449
OVOL1	FLG2	Q5D862	442
OVOL1	ESRP1	Q6NXG1	417
OVOL1	RIPK4	P57078	399
OVOL1	OR10A3	P58181	387
OVOL1	IVL	P07476	385

IntAct

Human interaction partners of OVOL1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

5 partners by confidence:

Partner	Interaction type	MIscore	Records
SUFU	physical association	0.640	2
FAM90A1	physical association	0.560	3
LMNB2	physical association	0.560	3
MAFF	physical association	0.370	1
ARID3B	association	0.350	1

BioGRID (17 interactions; top human partners by supporting records): HDAC1 (Affinity Capture-Western; 3 records), HDAC2 (Affinity Capture-Western; 2 records), HDAC3 (Affinity Capture-Western; 2 records), SMAD7 (Affinity Capture-Western; 2 records), SUFU (Affinity Capture-MS; 2 records), ARID3B (Affinity Capture-MS), DDX58 (Affinity Capture-RNA), FAM90A1 (Two-hybrid), LMNB2 (Two-hybrid), MAFF (Two-hybrid), TOP3B (Affinity Capture-RNA)

Disease & clinical

Genetic variants

Variant evidence for OVOL1: 38 ClinVar records (0 pathogenic / likely pathogenic); 49 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	4
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 234):

Position(s)	Effect	Δscore	Sites
11:65787474–65787475	donor_loss	1.0000	4
11:65794536–65794537	acceptor_loss	1.0000	5
11:65794728–65794729	donor_loss	1.0000	3
11:65795044–65795045	acceptor_loss	1.0000	4
11:65794029–65794030	acceptor_loss	0.9900	6
11:65794249–65794250	donor_loss	0.9900	5
11:65794537	acceptor_loss	0.9900
11:65794728	donor_loss	0.9900
11:65795043	acceptor_gain	0.9900
11:65795044	acceptor_loss	0.9900

AlphaMissense

653 missense substitutions predicted likely pathogenic (of 1,759 scored), across 160 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M132	9	0.902	0.980
H136	8	0.996	0.999
H192	8	0.995	0.999
H140	8	0.989	0.997
H164	8	0.989	0.996
H168	8	0.983	0.996
F127	8	0.980	1.000
H197	8	0.978	0.994
F183	8	0.972	1.000
D157	8	0.963	0.995
F155	8	0.958	0.999
D160	8	0.944	0.982
H231	8	0.922	0.970
H235	8	0.792	0.952
C123	7	0.996	0.999
C179	7	0.994	0.998
C120	7	0.993	0.999
C176	7	0.993	0.999
C148	7	0.990	0.999
C151	7	0.989	0.996

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	1.95e-07
Kidney Renal Papillary Cell Carcinoma (TCGA)	favorable	1.84e-05
Kidney Renal Clear Cell Carcinoma (validation)	favorable	0.000153

Disease associations

OMIM: gene MIM:602313 | disease phenotypes:

GWAS associations

showing 30 of 49 associations:

Study	Trait	p-value
GCST011956_183	Systemic lupus erythematosus	7e-26
GCST008747_86	Estimated glomerular filtration rate	7e-25
GCST007725_35	Serum uric acid levels	1e-24
GCST007800_72	Asthma (childhood onset)	3e-23
GCST010043_39	Asthma	2e-22
GCST003184_6	Atopic dermatitis	2e-19
GCST010042_52	Asthma	1e-18
GCST003184_40	Atopic dermatitis	2e-18
GCST008747_101	Estimated glomerular filtration rate	2e-18
GCST010984_4	Allergic disease (asthma, hay fever and/or eczema) (multivariate analysis)	2e-16
GCST010985_36	Allergic disease (asthma, hay fever and/or eczema) (age of onset)	2e-16
GCST006988_73	Blond vs. brown/black hair color	3e-14
GCST007798_44	Asthma	3e-14
GCST001363_1	Atopic dermatitis	1e-13
GCST005038_22	Allergic disease (asthma, hay fever or eczema)	2e-13
GCST012248_2	IgG N-glycosylation phenotypes (multivariate analysis)	2e-13
GCST001791_17	Urate levels	3e-13
GCST007234_16	Acne (severe)	5e-13
GCST010241_130	Apolipoprotein A1 levels	2e-12
GCST90020024_796	A body shape index	2e-12
GCST001937_39	Breast cancer	9e-12
GCST007995_33	Asthma (childhood onset)	1e-11
GCST002481_8	Acne (severe)	3e-11
GCST007234_17	Acne (severe)	3e-11
GCST008916_61	Asthma	4e-11
GCST009720_12	Asthma	4e-11
GCST010658_15	High density lipoprotein cholesterol levels	5e-11
GCST90013410_23	Basal cell carcinoma	1e-10
GCST003180_5	Atopic march	4e-10
GCST90014325_23	Asthma	8e-10

EFO canonical traits (from GWAS)

17 canonical traits:

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0022599	DNA methylation
EFO:0007755	atopic march
EFO:0009180	rosacea severity measurement
EFO:0006335	systolic blood pressure
EFO:0006527	smoking status measurement
EFO:0005298	allergic sensitization measurement
EFO:0003924	hair color
EFO:0004761	uric acid measurement
EFO:0004847	age at onset
EFO:0009928	Diuretic use measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0005193	serum IgG glycosylation measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	5
sodium arsenite	increases expression, decreases expression, decreases methylation	3
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	3
mercuric bromide	increases expression, affects cotreatment	2
bisphenol S	increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Arsenic	decreases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Silicon Dioxide	increases expression	2
Aflatoxin B1	increases expression, increases methylation	2
Cadmium Chloride	increases expression, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression, decreases reaction	2
bisphenol A	affects cotreatment, increases expression	1
sodium arsenate	decreases expression, increases abundance	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	increases expression	1
perfluorooctanoic acid	affects cotreatment, increases expression	1
hydroquinone	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
tapinarof	decreases expression, decreases reaction, increases abundance	1
Leflunomide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	increases expression	1
Diethylhexyl Phthalate	increases expression	1
Dust	decreases reaction, decreases expression, increases abundance	1
Endosulfan	increases expression	1
Estradiol	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.