POU2F1
gene geneOn this page
Also known as OCT1
Summary
POU2F1 (POU class 2 homeobox 1, HGNC:9212) is a protein-coding gene on chromosome 1q24.2, encoding POU domain, class 2, transcription factor 1 (P14859). Transcription factor that binds to the octamer motif (5’-ATTTGCAT-3’) and activates the promoters of the genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins.
The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.
Source: NCBI Gene 5451 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 98 total
- GTEx eGene: eQTL in 5 tissues, sQTL in 3 (q < 0.05)
- ChEMBL bioactivity: 1 clinical-phase molecule tested; no curated mechanism-of-action drug
- Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.26 (highly constrained)
- Transcription factor: yes — 139 downstream targets (CollecTRI)
- MANE Select transcript:
NM_002697 - Notable: 98 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9212 |
| Approved symbol | POU2F1 |
| Name | POU class 2 homeobox 1 |
| Location | 1q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OCT1 |
| Ensembl gene | ENSG00000143190 |
| Ensembl biotype | protein_coding |
| OMIM | 164175 |
| Entrez | 5451 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 11 protein_coding, 7 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay, 1 retained_intron
MANE Select: ENST00000367866
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 5, TSL 2: 4, TSL 3: 1, TSL 4: 3, TSL 5: 3
ENST00000367866, ENST00000271411, ENST00000367862, ENST00000367865, ENST00000420254, ENST00000429375, ENST00000442313, ENST00000443275, ENST00000470928, ENST00000490100, ENST00000492850, ENST00000541643, ENST00000557909, ENST00000559038, ENST00000559648, ENST00000560232, ENST00000648671, ENST00000919744, ENST00001081728, ENST00001116420, ENST00001130364, ENST00001130365, ENST00001145603
RefSeq mRNA: 5 — MANE Select: NM_002697
NM_001198783, NM_001198786, NM_001365848, NM_001365849, NM_002697
CCDS: CCDS1259, CCDS55655, CCDS55656
Canonical transcript exons
ENST00000367866 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002572678 | 167220886 | 167220958 |
| ENSE00003695971 | 167383857 | 167383951 |
| ENSE00003696128 | 167389588 | 167389761 |
| ENSE00003696516 | 167376029 | 167376155 |
| ENSE00003697182 | 167371917 | 167372036 |
| ENSE00003698113 | 167374108 | 167374296 |
| ENSE00003698998 | 167411959 | 167412304 |
| ENSE00003699179 | 167332470 | 167332535 |
| ENSE00003699689 | 167401451 | 167401556 |
| ENSE00003699742 | 167396286 | 167396427 |
| ENSE00003700887 | 167397994 | 167398133 |
| ENSE00003701549 | 167365467 | 167365567 |
| ENSE00003701727 | 167399186 | 167399365 |
| ENSE00003701816 | 167370161 | 167370214 |
| ENSE00003787634 | 167413026 | 167413114 |
| ENSE00003848463 | 167415500 | 167427340 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 96.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.4993 / max 230.9802, expressed in 1645 samples.
Highest expression (Bgee): buccal mucosa cell, secondary oocyte, sural nerve, oocyte, primordial germ cell in gonad.
Genetic regulation across tissues (GTEx eQTL / sQTL)
POU2F1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 5 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
8 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Brain Cortex | sqtl | 9.7e-03 | -1.75 | 1:166884311:G:A |
| Brain Spinal cord cervical c-1 | sqtl | 1.2e-02 | -1.83 | 1:167888809:G:GAGCTTGCAGTGAGCCGA |
| Whole Blood | sqtl | 2.1e-02 | +1.09 | 1:168094724:A:G |
| Esophagus Mucosa | eqtl | 2.7e-02 | +0.16 | 1:167670783:A:C |
| Colon Sigmoid | eqtl | 2.8e-02 | -0.33 | 1:166420477:G:A |
| Brain Cerebellum | eqtl | 3.3e-02 | -0.18 | 1:167155769:G:A |
| Brain Cerebellar Hemisphere | eqtl | 3.5e-02 | -0.15 | 1:167052312:G:A |
| Brain Cortex | eqtl | 4.6e-02 | +0.18 | 1:167606846:T:C |
FANTOM5 promoters
6 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 6429 | 8.4479 | 1639 |
| 6435 | 0.6043 | 169 |
| 6436 | 0.1623 | 88 |
| 6434 | 0.1389 | 64 |
| 6437 | 0.0983 | 42 |
| 6438 | 0.0476 | 20 |
Top tissues by expression
showing 100 of 287 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 96.45 | gold quality |
| secondary oocyte | CL:0000655 | 93.05 | gold quality |
| sural nerve | UBERON:0015488 | 92.85 | gold quality |
| oocyte | CL:0000023 | 91.29 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.86 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.59 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.20 | gold quality |
| tendon | UBERON:0000043 | 86.04 | gold quality |
| cerebellar vermis | UBERON:0004720 | 85.25 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 84.31 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 83.48 | gold quality |
| colonic epithelium | UBERON:0000397 | 83.40 | gold quality |
| bone marrow cell | CL:0002092 | 83.19 | gold quality |
| medial globus pallidus | UBERON:0002477 | 83.08 | gold quality |
| urethra | UBERON:0000057 | 82.83 | gold quality |
| nipple | UBERON:0002030 | 82.51 | gold quality |
| corpus callosum | UBERON:0002336 | 82.43 | gold quality |
| globus pallidus | UBERON:0001875 | 82.20 | gold quality |
| saphenous vein | UBERON:0007318 | 82.19 | gold quality |
| cranial nerve II | UBERON:0000941 | 81.89 | gold quality |
| sperm | CL:0000019 | 81.83 | gold quality |
| bone marrow | UBERON:0002371 | 80.74 | gold quality |
| vena cava | UBERON:0004087 | 80.32 | silver quality |
| tibia | UBERON:0000979 | 80.28 | gold quality |
| male germ cell | CL:0000015 | 80.17 | gold quality |
| amniotic fluid | UBERON:0000173 | 80.17 | gold quality |
| synovial joint | UBERON:0002217 | 80.10 | gold quality |
| ventral tegmental area | UBERON:0002691 | 80.06 | gold quality |
| cerebellum | UBERON:0002037 | 79.64 | gold quality |
| blood | UBERON:0000178 | 79.63 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 79.59 | gold quality |
| tonsil | UBERON:0002372 | 79.53 | gold quality |
| ventricular zone | UBERON:0003053 | 79.35 | gold quality |
| cartilage tissue | UBERON:0002418 | 79.23 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 79.06 | gold quality |
| cerebellar cortex | UBERON:0002129 | 79.00 | gold quality |
| mucosa of stomach | UBERON:0001199 | 78.93 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 78.88 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 78.74 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 78.72 | gold quality |
| body of tongue | UBERON:0011876 | 78.64 | silver quality |
| tibialis anterior | UBERON:0001385 | 78.60 | silver quality |
| ganglionic eminence | UBERON:0004023 | 78.58 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 78.53 | gold quality |
| renal medulla | UBERON:0000362 | 78.48 | gold quality |
| pericardium | UBERON:0002407 | 78.48 | silver quality |
| superior vestibular nucleus | UBERON:0007227 | 78.32 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 78.29 | gold quality |
| superior surface of tongue | UBERON:0007371 | 78.21 | gold quality |
| endothelial cell | CL:0000115 | 78.20 | silver quality |
| lower lobe of lung | UBERON:0008949 | 78.20 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 78.05 | gold quality |
| embryo | UBERON:0000922 | 78.01 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 77.95 | silver quality |
| penis | UBERON:0000989 | 77.95 | gold quality |
| deltoid | UBERON:0001476 | 77.94 | silver quality |
| tongue | UBERON:0001723 | 77.86 | silver quality |
| dorsal root ganglion | UBERON:0000044 | 77.68 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 77.65 | gold quality |
| retina | UBERON:0000966 | 77.64 | gold quality |
| pylorus | UBERON:0001166 | 77.62 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 77.57 | silver quality |
| right lung | UBERON:0002167 | 77.45 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 77.09 | gold quality |
| occipital lobe | UBERON:0002021 | 77.07 | gold quality |
| seminal vesicle | UBERON:0000998 | 77.06 | gold quality |
| adrenal tissue | UBERON:0018303 | 77.05 | gold quality |
| primary visual cortex | UBERON:0002436 | 76.95 | gold quality |
| trachea | UBERON:0003126 | 76.92 | silver quality |
| cardia of stomach | UBERON:0001162 | 76.71 | gold quality |
| gastrocnemius | UBERON:0001388 | 76.68 | gold quality |
| visceral pleura | UBERON:0002401 | 76.68 | gold quality |
| medulla oblongata | UBERON:0001896 | 76.51 | gold quality |
| muscle of leg | UBERON:0001383 | 76.48 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 76.18 | gold quality |
| popliteal artery | UBERON:0002250 | 76.12 | gold quality |
| tibial artery | UBERON:0007610 | 76.12 | gold quality |
| pancreatic ductal cell | CL:0002079 | 76.11 | silver quality |
| pons | UBERON:0000988 | 76.00 | silver quality |
| ovary | UBERON:0000992 | 76.00 | gold quality |
| gingival epithelium | UBERON:0001949 | 75.95 | silver quality |
| hindlimb stylopod muscle | UBERON:0004252 | 75.85 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 75.79 | gold quality |
| monocyte | CL:0000576 | 75.78 | gold quality |
| leukocyte | CL:0000738 | 75.77 | gold quality |
| mononuclear cell | CL:0000842 | 75.77 | gold quality |
| nasopharynx | UBERON:0001728 | 75.77 | gold quality |
| entorhinal cortex | UBERON:0002728 | 75.73 | gold quality |
| parietal pleura | UBERON:0002400 | 75.70 | gold quality |
| pleura | UBERON:0000977 | 75.63 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 75.62 | silver quality |
| tibial nerve | UBERON:0001323 | 75.55 | gold quality |
| superficial temporal artery | UBERON:0001614 | 75.49 | silver quality |
| subcutaneous adipose tissue | UBERON:0002190 | 75.48 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 75.47 | silver quality |
| skeletal muscle organ | UBERON:0014892 | 75.47 | gold quality |
| muscle organ | UBERON:0001630 | 75.46 | gold quality |
| gingiva | UBERON:0001828 | 75.12 | gold quality |
| placenta | UBERON:0001987 | 75.03 | gold quality |
| myometrium | UBERON:0001296 | 74.99 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.54 |
| E-MTAB-6386 | no | 205.16 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 78 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Hippocampal formation | tissue | 23.6 | |
| Corpus callosum | tissue | 21.9 | |
| Amygdala | tissue | 21.8 | |
| Cerebral cortex | tissue | 21.5 | low |
| Insular cortex | tissue | 21.5 | |
| Basal ganglia | tissue | 21.0 | low |
| Cerebellum | tissue | 20.9 | not detected |
| Entorhinal cortex | tissue | 20.2 | |
| Retrosplenial cortex | tissue | 20.1 | |
| Prefrontal cortex | tissue | 20.0 | |
| Retrosplenial and cingulate cortex | tissue | 19.6 | |
| Temporal cortex | tissue | 19.4 | |
| Motor cortex | tissue | 19.3 | |
| Septum | tissue | 17.8 | |
| Occipital cortex | tissue | 17.7 | |
| Periaqueductal gray | tissue | 17.0 | |
| Ventral forebrain | tissue | 16.8 | |
| Somatosensory cortex | tissue | 16.8 | |
| Olfactory bulb | tissue | 16.3 | |
| Midbrain | tissue | 15.5 | |
| Thalamus | tissue | 15.3 | |
| Hypothalamus | tissue | 15.2 | |
| Superior colliculi | tissue | 14.2 | |
| Putamen | tissue | 13.8 | |
| Spinal cord | tissue | 13.8 | |
| Substantia nigra | tissue | 13.7 | |
| Pons | tissue | 13.5 | |
| Medulla oblongata | tissue | 13.5 | |
| Retina | tissue | 12.0 | |
| Nucleus accumbens | tissue | 8.2 | |
| Hippocampus | tissue | 6.4 | not detected |
| Postcentral gyrus | tissue | 5.6 | |
| Locus coeruleus | tissue | 4.9 | |
| Caudate putamen | tissue | 3.9 | |
| Skeletal muscle | tissue | 3.7 | not detected |
| Bone marrow | tissue | 3.7 | not detected |
| Choroid plexus | tissue | 3.6 | |
| Thymus | tissue | 3.5 | |
| Parathyroid gland | tissue | 3.2 | medium |
| Tonsil | tissue | 3.2 | medium |
| Pituitary gland | tissue | 3.0 | |
| Vagina | tissue | 3.0 | medium |
| Spleen | tissue | 2.9 | low |
| Skin 1 | tissue | 2.8 | medium |
| Lymph node | tissue | 2.8 | medium |
| Frontal cortex | tissue | 2.6 | |
| Epididymis | tissue | 2.4 | medium |
| Tongue | tissue | 2.4 | |
| Placenta | tissue | 2.3 | high |
| Cervix | tissue | 2.2 | medium |
| Endometrium 1 | tissue | 2.2 | low |
| Breast | tissue | 2.1 | medium |
| Thyroid gland | tissue | 2.1 | not detected |
| Appendix | tissue | 2.1 | medium |
| Testis | tissue | 2.0 | high |
| Ovary | tissue | 2.0 | not detected |
| Rectum | tissue | 2.0 | high |
| Colon | tissue | 2.0 | high |
| Kidney | tissue | 2.0 | high |
| Prostate | tissue | 2.0 | medium |
Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Subiculum (23.6), White matter (21.9), Ventral hippocampus (19.4), Dorsal hippocampus (17.4), Ventral spinal cord (13.8).
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
showing 30 of 139 targets:
| Target | Regulation |
|---|---|
| ADAM2 | |
| AHSP | Unknown |
| ALDH3A1 | Activation |
| AR | Unknown |
| ATP11C | |
| ATP6V1E1 | Activation |
| BCL2 | |
| BDKRB1 | Unknown |
| CAPN6 | Unknown |
| CAT | Activation |
| CCND1 | Activation |
| CDC6 | Activation |
| CDKN1A | Unknown |
| CDKN2A | |
| CDKN2B | Unknown |
| CDX2 | Unknown |
| CDX4 | |
| CNTF | |
| CR2 | Unknown |
| CRISP3 | Repression |
| CRP | Unknown |
| CSN2 | Unknown |
| CXCL8 | Activation |
| CXCR5 | Unknown |
| CYP1A1 | Unknown |
| CYP2A6 | |
| CYP4A11 | Unknown |
| EMC10 | |
| ESR1 | Unknown |
| ETS1 | Unknown |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0785.1 | POU2F1 | POU domain factors |
| MA0785.2 | POU2F1 | POU domain factors |
| MA1962.1 | POU2F1::SOX2 | POU domain factors,SOX-related factors |
| UN0577.1 | POU2F1::DLX2 | POU domain factors,NK |
| UN0578.1 | POU2F1::ELK1 | POU domain factors,Ets-related |
| UN0579.1 | POU2F1::ETV1 | POU domain factors,Ets-related |
| UN0579.2 | POU2F1::ETV1 | POU domain factors,Ets-related |
JASPAR matrix evidence (PMIDs): PMID:1361172, PMID:29335749
Upstream regulators (CollecTRI, top): AP1, FOXC1, HNF1A, HNF4A, NFKB, NR0B2, PPARG, STAT3, USF1, USF2
miRNA regulators (miRDB)
Targeting POU2F1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 473 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
Functional genomics
gnomAD constraint: pLI 1, LOEUF 0.256, missense Z 2.73 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000367866 splits into 4 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 1:167,220,898–167,371,995 | 161 / 147.0 | 1.10 | no |
| 1:167,371,996–167,389,667 | 163 / 214.4 | 0.76 | no |
| 1:167,389,668–167,399,281 | 95 / 195.1 | 0.49 | no |
| 1:167,399,282–167,415,807 | 319 / 386.0 | 0.83 | no |
Literature-anchored findings (GeneRIF, showing 40)
- immunodepletion of Oct-1 and NF-YA proteins or mutations in the OCT-1 and CAAT motifs disrupt BRCA1 binding to the GADD45 promoter (PMID:11777930)
- Results demonstrate that functional interaction of Oct-1 and Brn-1 with androgen receptors is determined by the precise sequence of the octamer binding site, and by differential interaction with transcriptional machinery. (PMID:11997177)
- Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors (PMID:12019209)
- Oct-1 potentiates CREB-dependent cyclin D1 transcriptional activity by a phospho-CREB and CREB binding protein-independent mechanism (PMID:12391146)
- results clearly indicate a role of octamer transcription factor-1 in the transcriptional repression of the human gonadotropin-releasing hormone receptor gene (PMID:12446597)
- Our data on the interaction of two promoters with the enhancer and silencer in different cell types point to fine tissue-specific regulation of the oct-1 gene expression, especially in lymphatic cells. (PMID:12669425)
- Selective inhibition of class switching to IGG and IgE by recruitment of this and HOXC4 proteins and Ku70/ku86 to newly identified ATTT cis-elements. (PMID:12672812)
- enhancement of transcriptional potential by OBF1 (PMID:12727885)
- transcription of the Oct-1 gene is regulated by two promoters located upstream of the exon 1U and upstream of the exon 1L (PMID:12853155)
- The Oct-1 protein has been isolated,purified and characterized functionally. Histone gene expression is dependent on OCT1 and OCA-S coactivator complex. (PMID:12887915)
- OCA-S is a multicomponent OCT1 coactivator which has been isolated and functionally characterized. (PMID:12887926)
- OCT1 and SOX2 have roles in transcriptional activation of the Oct1.Sox2.Hoxb1-DNA ternary transcription factor complex (PMID:14559893)
- Histone deacetylase inhibitors can induce Gadd45 through its promoter without the need for functional p53, and both Oct-1 and NF-Y concertedly participate in trichostatin A-induced activation of the gadd45 promoter. (PMID:14586402)
- Results suggest a mechanism for the regulation of Oct-1 in response to DNA damage through specific phosphorylation within the NH(2)-terminal transcriptional regulatory domain. (PMID:14612514)
- transcriptional regulation of the key cell cycle regulator cyclin D1 and roles of both STAT5 and Oct-1 in this process (PMID:14645506)
- Data show that Oct-1 occupies the endogenous HLA-DRA promoter when the HLA-DRA promoter is inactive in retinoblastoma protein-defective cells. (PMID:15105429)
- Oct-1 and the TALE homeodomain proteins have roles in regulating the expression of the GnRH gene in neurons (PMID:15138251)
- a multiprotein complex containing GATA-1, Oct-1, and other protein factors may contribute to the formation of a repressive chromatin structure that silences gamma-globin gene expression (PMID:15613485)
- OCT-1 binds within DHS3 to silence Fshr transcription, an activity that involves members of the GATA family (PMID:15817654)
- physical binding to the family of repeats in Epstein-Barr virus oriP by the cellular transcription factors Oct-1 and Oct-2 was demonstrated by using an electrophoretic mobility-shift assay (PMID:15831936)
- Data show that GRG proteins, including GRG5, interact with two regulators of GnRH transcription, the homeodomain proteins MSX1 and OCT1, and regulate GnRH promoter activity. (PMID:16002402)
- Regulation of basal and induced expression of C-reactive protein through an overlapping element for OCT-1 and NF-kappaB on the proximal promoter. (PMID:16116232)
- identified an AHSP gene erythroid promoter with functionally important binding sites for GATA-1- and Oct-1-related proteins (PMID:16186125)
- the binding of Oct-1 to the T-13,910 lactase variant directs increased lactase promoter activity and this might provide an explanation for the lactase persistence phenotype in the human population (PMID:16301215)
- in the case of one non-small cell lung carcinoma line (NSCLC), Rb re-expression failed to rescue HLA-DRA inducibility despite successful re-establishment of Rb-function; this failure is traceable to the failure of Rb to rescue normal Oct-1 function (PMID:16360016)
- interleukin-6 induces Oct-1 gene expression, providing a biologically relevant means by which NF-kappaB-dependent gene expression can be selectively reverted by Oct-1 to quiescent levels (PMID:17192276)
- POU5F1 and POU2F subfamily members play a pivotal role for the FZD5 expression in undifferentiated human ES cells, fetal liver/spleen, adult colon, pancreatic islet, and diffuse-type gastric cancer (PMID:17273778)
- Oct-1 is an important transcriptional repressor for p15(INK4b) gene and the transcriptional repression of the p15(INK4b) gene by Oct-1 may be one of the regulatory mechanisms of cellular senescence. (PMID:17316622)
- The transcription factors Oct-1 and -2 inhibit and enhance, respectively, the expression of exon 1-containing transcripts and CCR5 surface levels. (PMID:17442950)
- The cytotoxicity of oxaliplatin was suggested to be affected by the levels of ATP7A and hOCT1 mRNAs. (PMID:18030470)
- Suggest that Oct-1 may play an important role in the development of primary lower extremity varicose veins. (PMID:18083338)
- LOX-1 receptor blockade abrogates oxLDL-induced oxidative DNA damage and prevents activation of the transcriptional repressor Oct-1 in human coronary arterial endothelium. (PMID:18390905)
- Oct-1 transactivates hPTTG1, and both proteins are concordantly overexpressed in endocrine tumors. (PMID:18550719)
- Testosterone represses MAFbx expression via interactions of the AR with Oct-1. (PMID:18599544)
- A functional role of PPARgamma/RXRalpha and Oct-1 in the regulation of the FABP2 gene. (PMID:18634911)
- A redox-modulated direct p38/GAPDH-Oct-1 interaction nucleates the occupancy of the H2B promoter by the OCA-S complex, in which p36/LDH plays a critical role in the hierarchical organization of the complex. (PMID:18682386)
- intersegmental transfer involves a ternary intermediate, or transition state in which the DNA-binding domains bridge two different DNA fragments simultaneously (PMID:18772384)
- Oct1 may have regulatory functions in prostate development and cancer progression. (PMID:19058140)
- O-linked N-acetylglucosamines within the second serine/threonine-rich region of Sp1 interrupts a known interaction between Sp1 and Oct1 (PMID:19070619)
- Oct-1 is involved in the regulation of CDKN1A in reponse to clinically relevant doses of ionizing radiation. (PMID:19118657)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pou2f1b | ENSDARG00000007996 |
| ENSDARG00000102550 | ||
| mus_musculus | Pou2f1 | ENSMUSG00000026565 |
| rattus_norvegicus | Pou2f1 | ENSRNOG00000003581 |
| drosophila_melanogaster | acj6 | FBGN0000028 |
| caenorhabditis_elegans | WBGENE00006818 |
Paralogs (17): POU2F2 (ENSG00000028277), POU1F1 (ENSG00000064835), POU4F3 (ENSG00000091010), POU6F2 (ENSG00000106536), POU2F3 (ENSG00000137709), POU4F2 (ENSG00000151615), POU4F1 (ENSG00000152192), HDX (ENSG00000165259), POU6F1 (ENSG00000184271), POU3F2 (ENSG00000184486), POU3F1 (ENSG00000185668), POU3F4 (ENSG00000196767), POU3F3 (ENSG00000198914), CCDC160 (ENSG00000203952), POU5F1 (ENSG00000204531), POU5F1B (ENSG00000212993), POU5F2 (ENSG00000248483)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:101898) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 15 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| decreased embryo size | 2 |
| small liver | 1 |
| small lens | 1 |
| anemia | 1 |
| abnormal embryo development | 1 |
| absent ectoplacental cone | 1 |
| embryonic growth arrest | 1 |
| pallor | 1 |
| abnormal embryonic-extraembryonic boundary morphology | 1 |
| abnormal anterior visceral endoderm morphology | 1 |
| abnormal extraembryonic ectoderm morphology | 1 |
| embryonic lethality between implantation and placentation, complete penetrance | 1 |
| lethality throughout fetal growth and development, complete penetrance | 1 |
| embryonic lethality during organogenesis, incomplete penetrance | 1 |
| impaired erythropoiesis | 1 |
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 |
|---|---|---|---|
| Gallus gallus | P55968 | 100.0% | Diamond |
| Pan troglodytes | Q7YR49 | 99.7% | Diamond |
| Macaca mulatta | Q28503 | 99.0% | Diamond |
| Xenopus tropicalis | Q4QQQ7 | 98.9% | Diamond |
| Xenopus laevis | Q561L5 | 98.9% | Diamond |
| Mesocricetus auratus | Q812B1 | 98.6% | Diamond |
| Oncorhynchus mykiss | Q08478 | 98.3% | Diamond |
| Oncorhynchus keta | Q91169 | 98.3% | Diamond |
| Sus scrofa | Q29087 | 98.1% | Diamond |
| Bos taurus | P10036 | 97.9% | Diamond |
| Ovis aries | P79364 | 97.9% | Diamond |
| Meleagris gallopavo | Q05749 | 95.9% | Diamond |
| Bombyx mori | Q17237 | 95.5% | Diamond |
| Canis lupus familiaris | Q9TTI7 | 91.8% | Diamond |
| Dugesia japonica | P31370 | 83.0% | Diamond |
| Drosophila virilis | Q24705 | 73.4% | 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 |
|---|---|---|
| POU2F1-DT | ncRNA | 118568815 |
| CREG1 | protein-coding | 8804 |
| CD247 | protein-coding | 919 |
| LINC01363 | ncRNA | 101928484 |
Protein
Protein identifiers
POU domain, class 2, transcription factor 1 — P14859 (reviewed: P14859)
Alternative names: NF-A1, Octamer-binding protein 1, Octamer-binding transcription factor 1
All UniProt accessions (5): A0A0A0MSV5, A0A0A0MT46, A0A0C4DG88, P14859, Q16075
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor that binds to the octamer motif (5’-ATTTGCAT-3’) and activates the promoters of the genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins. Modulates transcription transactivation by NR3C1, AR and PGR. (Microbial infection) In case of human herpes simplex virus (HSV) infection, POU2F1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and HCFC1 thereby enabling the transcription of the viral immediate early genes.
Subunit / interactions. Interacts with POU2AF1; the interaction increases POU2F1 transactivation activity. Interacts with NR3C1, AR, PGR and HCFC1. (Microbial infection) Associates with the herpes simplex virus VP16-induced complex; binding to HCFC1 activates the viral transcriptional activator VP16 for association with POU2F1, to form a multiprotein-DNA complex responsible for activating transcription of the viral immediate early genes. (Microbial infection) Interacts with human herpesvirus 8 (KSHV) protein RTA/ORF50; this interaction enhances RTA/ORF50-mediated transactivation of several viral promoters including K-bZIP promoter.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous. Isoform 2 is lymphocyte-specific.
Post-translational modifications. Phosphorylated by PRKDC.
Similarity. Belongs to the POU transcription factor family. Class-2 subfamily.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P14859-1 | 1 | yes |
| P14859-2 | 2, Oct-1L, lymphocyte-specific | |
| P14859-3 | 3 | |
| P14859-6 | 6 | |
| P14859-4 | 4 | |
| P14859-5 | 5 |
RefSeq proteins (5): NP_001185712, NP_001185715, NP_001352777, NP_001352778, NP_002688* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000327 | POU_dom | Domain |
| IPR000972 | TF_octamer | Family |
| IPR001356 | HD | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR010982 | Lambda_DNA-bd_dom_sf | Homologous_superfamily |
| IPR013847 | POU | Domain |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR045703 | POU2F1_C | Domain |
| IPR050255 | POU_domain_TF | Family |
Pfam: PF00046, PF00157, PF19536
UniProt features (37 total): helix 9, splice variant 6, compositionally biased region 5, modified residue 5, region of interest 5, sequence conflict 2, chain 1, domain 1, DNA-binding region 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
8 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 1E3O | Crystal structure of Oct-1 POU dimer bound to MORE | X-RAY DIFFRACTION | 1.9 |
| 1GT0 | Crystal structure of a POU/HMG/DNA ternary complex | X-RAY DIFFRACTION | 2.6 |
| 1HF0 | Crystal structure of the DNA-binding domain of Oct-1 bound to DNA as a dimer | X-RAY DIFFRACTION | 2.7 |
| 1OCT | CRYSTAL STRUCTURE OF THE OCT-1 POU DOMAIN BOUND TO AN OCTAMER SITE: DNA RECOGNITION WITH … | X-RAY DIFFRACTION | 3 |
| 1CQT | CRYSTAL STRUCTURE OF A TERNARY COMPLEX CONTAINING AN OCA-B PEPTIDE, THE OCT-1 POU DOMAIN … | X-RAY DIFFRACTION | 3.2 |
| 1O4X | TERNARY COMPLEX OF THE DNA BINDING DOMAINS OF THE OCT1 AND SOX2 TRANSCRIPTION FACTORS … | SOLUTION NMR | |
| 1POG | SOLUTION STRUCTURE OF THE OCT-1 POU-HOMEO DOMAIN DETERMINED BY NMR AND RESTRAINED … | SOLUTION NMR | |
| 1POU | THE SOLUTION STRUCTURE OF THE OCT-1 POU-SPECIFIC DOMAIN REVEALS A STRIKING SIMILARITY TO … | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P14859-F1 | 50.69 | 0.17 |
Human Protein Atlas
Protein class: Predicted intracellular proteins, Transcription factors, Helix-turn-helix domains, Essential proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): nucleoplasm; endoplasmic reticulum; vesicles
Antibody reliability (HPA): IH supported · IF approved
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 (5)
| Type | Positions |
|---|---|
| Phosphothreonine | 270, 276 |
| Phosphoserine | 283, 385, 448 |
Mutagenesis-validated functional residues (1)
| Position | Phenotype |
|---|---|
| 385 | loss of inhibition of dna binding. |
Function
Pathways and Gene Ontology
Reactome pathways
2 curated (TAS) of 16; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
16 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-9018519 | Estrogen-dependent gene expression | curated |
| R-HSA-6785807 | Interleukin-4 and Interleukin-13 signaling | curated |
| R-HSA-1280215 | Cytokine Signaling in Immune system | — |
| R-HSA-9976102 | Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | electronic |
| R-HSA-8939211 | ESR-mediated signaling | — |
| R-HSA-74160 | Gene expression (Transcription) | — |
| R-HSA-168256 | Immune System | — |
| R-HSA-73857 | RNA Polymerase II Transcription | — |
| R-HSA-749476 | RNA Polymerase III Abortive And Retractive Initiation | electronic |
| R-HSA-74158 | RNA Polymerase III Transcription | — |
| R-HSA-76046 | RNA Polymerase III Transcription Initiation | — |
| R-HSA-76071 | RNA Polymerase III Transcription Initiation From Type 3 Promoter | electronic |
| R-HSA-6807505 | RNA polymerase II transcribes snRNA genes | electronic |
| R-HSA-162582 | Signal Transduction | — |
| R-HSA-449147 | Signaling by Interleukins | — |
| R-HSA-9006931 | Signaling by Nuclear Receptors | — |
MSigDB gene sets: 0 (showing top):
GO Biological Process (6): DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of miRNA transcription (GO:1902895), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), identical protein binding (GO:0042802), sequence-specific DNA binding (GO:0043565), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), RNA polymerase II transcription regulator complex (GO:0090575)
Reactome top-level categories
11 top-level categories:
| Category | Pathways |
|---|---|
| RNA Polymerase III Transcription | 2 |
| Gene expression (Transcription) | 2 |
| Signaling by Interleukins | 1 |
| RNA Polymerase II Transcription | 1 |
| RNA Polymerase III Transcription Initiation | 1 |
| ESR-mediated signaling | 1 |
| Differentiation of T cells | 1 |
| Immune System | 1 |
| Cytokine Signaling in Immune system | 1 |
| Signaling by Nuclear Receptors | 1 |
| Signal Transduction | 1 |
GO top-level categories
33 GO namespaces:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 4 |
| regulation of DNA-templated transcription | 3 |
| transcription by RNA polymerase II | 2 |
| DNA-templated transcription | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| positive regulation of DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| miRNA transcription | 1 |
| regulation of miRNA transcription | 1 |
| positive regulation of miRNA metabolic process | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| core promoter sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| DNA binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| transcription regulator complex | 1 |
| nuclear protein-containing complex | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 10 of 19 annotations. The rest are phylogenetic / computational / electronic (IEA).
10 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| negative regulation of DNA-templated transcription | BP | direct assay |
| positive regulation of transcription by RNA polymerase II | BP | direct assay |
| RNA polymerase II transcription regulator complex | CC | mutant phenotype |
| nucleus | CC | direct assay |
| DNA binding | MF | direct assay |
| DNA-binding transcription factor activity, RNA polymerase II-specific | MF | mutant phenotype |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | MF | direct assay |
| RNA polymerase II core promoter sequence-specific DNA binding | MF | mutant phenotype |
| identical protein binding | MF | physical interaction |
| sequence-specific DNA binding | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 1,226 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| POU2F1 | HCFC2 | Q9Y5Z7 | 763 |
| POU2F1 | HCFC1 | P51610 | 710 |
| POU2F1 | POU2AF1 | Q16633 | 698 |
| POU2F1 | CREB3 | O43889 | 635 |
| POU2F1 | CREBZF | Q9NS37 | 603 |
| POU2F1 | GCM1 | Q9NP62 | 515 |
| POU2F1 | DCDC2 | Q9UHG0 | 501 |
| POU2F1 | ACOT13 | Q9NPJ3 | 498 |
| POU2F1 | ZSCAN1 | Q8NBB4 | 487 |
| POU2F1 | MAZ | P56270 | 474 |
| POU2F1 | MZF1 | P28698 | 466 |
| POU2F1 | H2BC21 | Q16778 | 460 |
| POU2F1 | HNF1A | P20823 | 445 |
| POU2F1 | FOXA1 | P55317 | 437 |
| POU2F1 | HINFP | Q9BQA5 | 437 |
IntAct
Human interaction partners of POU2F1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
14 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| SP1 | physical association | 0.720 | 7 |
| SP4 | physical association | 0.560 | 5 |
| PLK3 | physical association | 0.560 | 3 |
| POGZ | physical association | 0.560 | 3 |
| TEAD1 | direct interaction | 0.440 | 1 |
| HCFC1 | physical association | 0.400 | 1 |
| CEBPE | physical association | 0.370 | 1 |
| HOXB13 | physical association | 0.370 | 1 |
| HOXC9 | physical association | 0.370 | 1 |
| IRF9 | physical association | 0.370 | 1 |
| POU2AF1 | physical association | 0.370 | 1 |
| TLX2 | physical association | 0.370 | 1 |
| BAG2 | association | 0.350 | 1 |
| BANF1 | association | 0.350 | 1 |
BioGRID (248 interactions; top human partners by supporting records): NCOR2 (Affinity Capture-Western; 6 records), BRCA1 (Co-localization; 5 records), NR3C1 (Reconstituted Complex; 5 records), SP1 (Two-hybrid; 5 records), XRCC6 (Affinity Capture-Western; 5 records), XRCC5 (Affinity Capture-Western; 4 records), CREB1 (Affinity Capture-Western; 3 records), GAPDH (Reconstituted Complex; 3 records), HCFC1 (Reconstituted Complex; 3 records), HDAC1 (Affinity Capture-Western; 3 records), HOXC4 (Reconstituted Complex; 3 records), HSPA8 (Affinity Capture-MS; 3 records), MAGEA10 (Affinity Capture-MS; 3 records), PARP1 (Far Western; 3 records), POU2AF1 (Co-crystal Structure; 3 records)
SIGNOR signaling
showing 15 of 17 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| POU2AF1 | up-regulates | POU2F1 | binding |
| POU2F1 | “up-regulates quantity by expression” | HOXD10 | “transcriptional regulation” |
| POU2F1 | “up-regulates quantity by expression” | HOXD11 | “transcriptional regulation” |
| PRKAA1 | down-regulates | POU2F1 | phosphorylation |
| PER2 | “down-regulates activity” | POU2F1 | binding |
| POU2F1 | “up-regulates quantity by expression” | SNAI2 | “transcriptional regulation” |
| POU2F1 | “up-regulates quantity by expression” | TWIST1 | “transcriptional regulation” |
| POU2F1 | “up-regulates quantity by expression” | GFI1B | “transcriptional regulation” |
| POU2F1 | “down-regulates quantity by repression” | IL4 | “transcriptional regulation” |
| PRKDC | down-regulates | POU2F1 | phosphorylation |
| POU2F1 | “up-regulates quantity by expression” | MYH2 | “transcriptional regulation” |
| POU2F1 | “up-regulates quantity by expression” | MYH1 | “transcriptional regulation” |
| POU2F1 | “up-regulates quantity by expression” | MYH10 | “transcriptional regulation” |
| HMGB2 | “up-regulates activity” | POU2F1 | binding |
| SNAPC | “up-regulates activity” | POU2F1 | binding |
Protein complexes (CORUM) (4)
Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).
4 complexes by size:
| Complex | Subunits | Members |
|---|---|---|
| ★ NFKB1-POU2F1-POU2F2-RELA-YY1 complex | 5 | NFKB1, POU2F1, POU2F2, RELA, YY1 |
| OCT1-OBF1-TLE1 complex | 3 | POU2AF1, POU2F1, TLE1 |
| POU2F1-SOX2 complex | 2 | POU2F1, SOX2 |
| OCT1-OBF1-DNA complex | 2 | POU2AF1, POU2F1 |
Disease & clinical
Genetic variants
Variant evidence for POU2F1: 98 ClinVar records (0 pathogenic / likely pathogenic); 7 GWAS associations.
ClinVar
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 3 |
| Benign | 3 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 48 predictions of 1,869):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 1:167332468–167332469 | acceptor_loss | 1.0000 | 5 |
| 1:167332536–167332537 | donor_loss | 1.0000 | 5 |
| 1:167365465–167365466 | acceptor_loss | 1.0000 | 6 |
| 1:167365568–167365569 | donor_loss | 1.0000 | 5 |
| 1:167370215–167370216 | donor_loss | 1.0000 | 5 |
| 1:167371902 | acceptor_gain | 1.0000 | |
| 1:167374106–167374107 | acceptor_loss | 1.0000 | 6 |
| 1:167374297–167374298 | donor_loss | 1.0000 | 4 |
| 1:167376027–167376028 | acceptor_loss | 1.0000 | 6 |
| 1:167376156–167376157 | donor_loss | 1.0000 | 5 |
AlphaMissense
1,564 missense substitutions predicted likely pathogenic (of 4,934 scored), across 432 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 |
|---|---|---|---|
| M339 | 9 | 0.998 | 1.000 |
| M313 | 9 | 0.987 | 1.000 |
| M418 | 9 | 0.919 | 0.996 |
| N338 | 8 | 1.000 | 1.000 |
| S322 | 8 | 0.999 | 1.000 |
| F329 | 8 | 0.999 | 1.000 |
| N429 | 8 | 0.999 | 1.000 |
| F295 | 8 | 0.998 | 1.000 |
| D320 | 8 | 0.998 | 1.000 |
| F321 | 8 | 0.998 | 1.000 |
| S335 | 8 | 0.998 | 1.000 |
| D308 | 8 | 0.997 | 1.000 |
| N333 | 8 | 0.997 | 1.000 |
| F336 | 8 | 0.997 | 1.000 |
| F291 | 8 | 0.996 | 1.000 |
| F398 | 8 | 0.987 | 1.000 |
| F427 | 8 | 0.982 | 1.000 |
| D352 | 8 | 0.976 | 0.995 |
| S385 | 8 | 0.965 | 1.000 |
| F304 | 8 | 0.963 | 1.000 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
1 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Liver Hepatocellular Carcinoma (TCGA) | unfavorable | 0.000526 |
Disease associations
OMIM: gene MIM:164175 | disease phenotypes:
GWAS associations
7 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST008758_8 | Pre-treatment viral load in HIV-1 infection | 6e-17 |
| GCST009798_14 | Asthma | 8e-11 |
| GCST008916_65 | Asthma | 9e-10 |
| GCST006627_86 | Diastolic blood pressure | 3e-9 |
| GCST005175_1 | Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes | 3e-6 |
| GCST000248_4 | Liver enzyme levels | 4e-6 |
| GCST005174_38 | Coronary artery calcified atherosclerotic plaque score in type 2 diabetes | 7e-6 |
EFO canonical traits (from GWAS)
3 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0004723 | coronary artery calcification |
| EFO:0006336 | diastolic blood pressure |
| EFO:0010125 | viral load |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3509601 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 5,545 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
1 molecules by phase:
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL237500 | LINAGLIPTIN | 4 | 5,545 |
PharmGKB: 1 entry (CPIC guideline: no)
ChEMBL bioactivities
1 potent at pChembl≥5 of 3 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.00 | IC50 | 1000 | nM | CHEMBL5563848 |
PubChem BioAssay actives
1 with measured affinity, of 95 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-6-[4-[[(3S,5R)-3-methyl-5-(4-methyl-1-oxo-3H-2-benzofuran-5-yl)piperazin-1-yl]methyl]triazol-2-yl]pyridine-3-carbonitrile | 2077520: Inhibition of OCT1 (unknown origin) | ic50 | 1.0000 | uM |
CTD chemical–gene interactions
63 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 3 |
| Valproic Acid | affects cotreatment, decreases expression | 3 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases oxidation, increases abundance | 2 |
| bisphenol S | decreases methylation, affects cotreatment, decreases expression | 2 |
| Acrolein | affects cotreatment, decreases expression, increases oxidation, increases abundance | 2 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance, increases oxidation | 2 |
| Ozone | affects cotreatment, decreases expression, increases oxidation, increases abundance | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| lasiocarpine | decreases expression, increases metabolic processing | 1 |
| alpha-pinene | increases abundance, affects cotreatment, decreases expression, increases oxidation | 1 |
| bisphenol A | affects cotreatment, decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| 2-butenal | decreases expression | 1 |
| riddelliine | decreases expression, increases metabolic processing | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | affects cotreatment, affects expression | 1 |
| coenzyme Q10 | decreases reaction, increases expression | 1 |
| lead chloride | affects cotreatment, affects expression | 1 |
| cadmium sulfate | affects cotreatment, affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| fenbuconazole | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Ethanol | decreases expression | 1 |
| Vehicle Emissions | decreases expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
ChEMBL screening assays
14 unique, capped per target: 9 binding, 5 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3536917 | ADMET | Drug uptake assessed as OCT1 (unknown origin)-mediated drug uptake expressed in HEK293 cells by liquid scintillation counting relative to control | Evaluation and prediction of potential drug-drug interactions of linagliptin using in vitro cell culture methods. — *Drug Metab Dispos* |
| CHEMBL4809211 | Binding | Inhibition of human OCT1 assessed as reduction in OCT1-mediated metformin transport at 14900 uM relative to control | Identification of 2,2-Dimethylbutanoic Acid (HST5040), a Clinical Development Candidate for the Treatment of Propionic Acidemia and Methylmalonic Acidemia. — *J Med Chem* |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1YH | Abcam A-549 POU2F1 KO | Cancer cell line | Male |
| CVCL_D2NY | Abcam THP-1 POU2F1 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for POU2F1 across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.