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POU2F1

gene
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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

FieldValue
HGNC IDHGNC:9212
Approved symbolPOU2F1
NamePOU class 2 homeobox 1
Location1q24.2
Locus typegene with protein product
StatusApproved
AliasesOCT1
Ensembl geneENSG00000143190
Ensembl biotypeprotein_coding
OMIM164175
Entrez5451

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

ExonStartEnd
ENSE00002572678167220886167220958
ENSE00003695971167383857167383951
ENSE00003696128167389588167389761
ENSE00003696516167376029167376155
ENSE00003697182167371917167372036
ENSE00003698113167374108167374296
ENSE00003698998167411959167412304
ENSE00003699179167332470167332535
ENSE00003699689167401451167401556
ENSE00003699742167396286167396427
ENSE00003700887167397994167398133
ENSE00003701549167365467167365567
ENSE00003701727167399186167399365
ENSE00003701816167370161167370214
ENSE00003787634167413026167413114
ENSE00003848463167415500167427340

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:

TissueQTLq-valueSlopeLead variant
Brain Cortexsqtl9.7e-03-1.751:166884311:G:A
Brain Spinal cord cervical c-1sqtl1.2e-02-1.831:167888809:G:GAGCTTGCAGTGAGCCGA
Whole Bloodsqtl2.1e-02+1.091:168094724:A:G
Esophagus Mucosaeqtl2.7e-02+0.161:167670783:A:C
Colon Sigmoideqtl2.8e-02-0.331:166420477:G:A
Brain Cerebellumeqtl3.3e-02-0.181:167155769:G:A
Brain Cerebellar Hemisphereeqtl3.5e-02-0.151:167052312:G:A
Brain Cortexeqtl4.6e-02+0.181:167606846:T:C

FANTOM5 promoters

6 alternative TSS:

Promoter IDTPM avgSamples expressed
64298.44791639
64350.6043169
64360.162388
64340.138964
64370.098342
64380.047620

Top tissues by expression

showing 100 of 287 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
buccal mucosa cellCL:000233696.45gold quality
secondary oocyteCL:000065593.05gold quality
sural nerveUBERON:001548892.85gold quality
oocyteCL:000002391.29gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099189.86gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047387.59gold quality
calcaneal tendonUBERON:000370187.20gold quality
tendonUBERON:000004386.04gold quality
cerebellar vermisUBERON:000472085.25gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451184.31gold quality
tendon of biceps brachiiUBERON:000818883.48gold quality
colonic epitheliumUBERON:000039783.40gold quality
bone marrow cellCL:000209283.19gold quality
medial globus pallidusUBERON:000247783.08gold quality
urethraUBERON:000005782.83gold quality
nippleUBERON:000203082.51gold quality
corpus callosumUBERON:000233682.43gold quality
globus pallidusUBERON:000187582.20gold quality
saphenous veinUBERON:000731882.19gold quality
cranial nerve IIUBERON:000094181.89gold quality
spermCL:000001981.83gold quality
bone marrowUBERON:000237180.74gold quality
vena cavaUBERON:000408780.32silver quality
tibiaUBERON:000097980.28gold quality
male germ cellCL:000001580.17gold quality
amniotic fluidUBERON:000017380.17gold quality
synovial jointUBERON:000221780.10gold quality
ventral tegmental areaUBERON:000269180.06gold quality
cerebellumUBERON:000203779.64gold quality
bloodUBERON:000017879.63gold quality
inferior vagus X ganglionUBERON:000536379.59gold quality
tonsilUBERON:000237279.53gold quality
ventricular zoneUBERON:000305379.35gold quality
cartilage tissueUBERON:000241879.23gold quality
trigeminal ganglionUBERON:000167579.06gold quality
cerebellar cortexUBERON:000212979.00gold quality
mucosa of stomachUBERON:000119978.93gold quality
cerebellar hemisphereUBERON:000224578.88gold quality
subthalamic nucleusUBERON:000190678.74gold quality
Brodmann (1909) area 23UBERON:001355478.72gold quality
body of tongueUBERON:001187678.64silver quality
tibialis anteriorUBERON:000138578.60silver quality
ganglionic eminenceUBERON:000402378.58gold quality
middle temporal gyrusUBERON:000277178.53gold quality
renal medullaUBERON:000036278.48gold quality
pericardiumUBERON:000240778.48silver quality
superior vestibular nucleusUBERON:000722778.32gold quality
trabecular bone tissueUBERON:000248378.29gold quality
superior surface of tongueUBERON:000737178.21gold quality
endothelial cellCL:000011578.20silver quality
lower lobe of lungUBERON:000894978.20gold quality
right hemisphere of cerebellumUBERON:001489078.05gold quality
embryoUBERON:000092278.01gold quality
pharyngeal mucosaUBERON:000035577.95silver quality
penisUBERON:000098977.95gold quality
deltoidUBERON:000147677.94silver quality
tongueUBERON:000172377.86silver quality
dorsal root ganglionUBERON:000004477.68gold quality
pigmented layer of retinaUBERON:000178277.65gold quality
retinaUBERON:000096677.64gold quality
pylorusUBERON:000116677.62gold quality
dorsal plus ventral thalamusUBERON:000189777.57silver quality
right lungUBERON:000216777.45gold quality
esophagus squamous epitheliumUBERON:000692077.09gold quality
occipital lobeUBERON:000202177.07gold quality
seminal vesicleUBERON:000099877.06gold quality
adrenal tissueUBERON:001830377.05gold quality
primary visual cortexUBERON:000243676.95gold quality
tracheaUBERON:000312676.92silver quality
cardia of stomachUBERON:000116276.71gold quality
gastrocnemiusUBERON:000138876.68gold quality
visceral pleuraUBERON:000240176.68gold quality
medulla oblongataUBERON:000189676.51gold quality
muscle of legUBERON:000138376.48gold quality
layer of synovial tissueUBERON:000761676.18gold quality
popliteal arteryUBERON:000225076.12gold quality
tibial arteryUBERON:000761076.12gold quality
pancreatic ductal cellCL:000207976.11silver quality
ponsUBERON:000098876.00silver quality
ovaryUBERON:000099276.00gold quality
gingival epitheliumUBERON:000194975.95silver quality
hindlimb stylopod muscleUBERON:000425275.85gold quality
epithelium of nasopharynxUBERON:000195175.79gold quality
monocyteCL:000057675.78gold quality
leukocyteCL:000073875.77gold quality
mononuclear cellCL:000084275.77gold quality
nasopharynxUBERON:000172875.77gold quality
entorhinal cortexUBERON:000272875.73gold quality
parietal pleuraUBERON:000240075.70gold quality
pleuraUBERON:000097775.63gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450275.62silver quality
tibial nerveUBERON:000132375.55gold quality
superficial temporal arteryUBERON:000161475.49silver quality
subcutaneous adipose tissueUBERON:000219075.48gold quality
lateral nuclear group of thalamusUBERON:000273675.47silver quality
skeletal muscle organUBERON:001489275.47gold quality
muscle organUBERON:000163075.46gold quality
gingivaUBERON:000182875.12gold quality
placentaUBERON:000198775.03gold quality
myometriumUBERON:000129674.99gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes4.54
E-MTAB-6386no205.16

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Hippocampal formationtissue23.6
Corpus callosumtissue21.9
Amygdalatissue21.8
Cerebral cortextissue21.5low
Insular cortextissue21.5
Basal gangliatissue21.0low
Cerebellumtissue20.9not detected
Entorhinal cortextissue20.2
Retrosplenial cortextissue20.1
Prefrontal cortextissue20.0
Retrosplenial and cingulate cortextissue19.6
Temporal cortextissue19.4
Motor cortextissue19.3
Septumtissue17.8
Occipital cortextissue17.7
Periaqueductal graytissue17.0
Ventral forebraintissue16.8
Somatosensory cortextissue16.8
Olfactory bulbtissue16.3
Midbraintissue15.5
Thalamustissue15.3
Hypothalamustissue15.2
Superior colliculitissue14.2
Putamentissue13.8
Spinal cordtissue13.8
Substantia nigratissue13.7
Ponstissue13.5
Medulla oblongatatissue13.5
Retinatissue12.0
Nucleus accumbenstissue8.2
Hippocampustissue6.4not detected
Postcentral gyrustissue5.6
Locus coeruleustissue4.9
Caudate putamentissue3.9
Skeletal muscletissue3.7not detected
Bone marrowtissue3.7not detected
Choroid plexustissue3.6
Thymustissue3.5
Parathyroid glandtissue3.2medium
Tonsiltissue3.2medium
Pituitary glandtissue3.0
Vaginatissue3.0medium
Spleentissue2.9low
Skin 1tissue2.8medium
Lymph nodetissue2.8medium
Frontal cortextissue2.6
Epididymistissue2.4medium
Tonguetissue2.4
Placentatissue2.3high
Cervixtissue2.2medium
Endometrium 1tissue2.2low
Breasttissue2.1medium
Thyroid glandtissue2.1not detected
Appendixtissue2.1medium
Testistissue2.0high
Ovarytissue2.0not detected
Rectumtissue2.0high
Colontissue2.0high
Kidneytissue2.0high
Prostatetissue2.0medium

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:

TargetRegulation
ADAM2
AHSPUnknown
ALDH3A1Activation
ARUnknown
ATP11C
ATP6V1E1Activation
BCL2
BDKRB1Unknown
CAPN6Unknown
CATActivation
CCND1Activation
CDC6Activation
CDKN1AUnknown
CDKN2A
CDKN2BUnknown
CDX2Unknown
CDX4
CNTF
CR2Unknown
CRISP3Repression
CRPUnknown
CSN2Unknown
CXCL8Activation
CXCR5Unknown
CYP1A1Unknown
CYP2A6
CYP4A11Unknown
EMC10
ESR1Unknown
ETS1Unknown

JASPAR motifs

MotifNameFamily
MA0785.1POU2F1POU domain factors
MA0785.2POU2F1POU domain factors
MA1962.1POU2F1::SOX2POU domain factors,SOX-related factors
UN0577.1POU2F1::DLX2POU domain factors,NK
UN0578.1POU2F1::ELK1POU domain factors,Ets-related
UN0579.1POU2F1::ETV1POU domain factors,Ets-related
UN0579.2POU2F1::ETV1POU 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:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-3163100.0077.238605
HSA-MIR-9-5P100.0072.282361
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-4262100.0073.263931
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-340-5P100.0072.504437
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-3646100.0073.565283
HSA-MIR-126-5P100.0072.713180
HSA-MIR-4533100.0069.482758
HSA-MIR-4455100.0065.481587
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-8485100.0077.574731
HSA-MIR-518D-5P100.0067.51979
HSA-MIR-518E-5P100.0067.66954
HSA-MIR-518F-5P100.0067.51979
HSA-MIR-519A-5P100.0067.66954
HSA-MIR-519B-5P100.0067.66954
HSA-MIR-519C-5P100.0067.66954
HSA-MIR-520C-5P100.0067.51979
HSA-MIR-522-5P100.0067.66954
HSA-MIR-523-5P100.0067.66954

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 / expo/eConstrained
1:167,220,898–167,371,995161 / 147.01.10no
1:167,371,996–167,389,667163 / 214.40.76no
1:167,389,668–167,399,28195 / 195.10.49no
1:167,399,282–167,415,807319 / 386.00.83no

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

OrganismSymbolGene ID
danio_reriopou2f1bENSDARG00000007996
ENSDARG00000102550
mus_musculusPou2f1ENSMUSG00000026565
rattus_norvegicusPou2f1ENSRNOG00000003581
drosophila_melanogasteracj6FBGN0000028
caenorhabditis_elegansWBGENE00006818

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 size2
small liver1
small lens1
anemia1
abnormal embryo development1
absent ectoplacental cone1
embryonic growth arrest1
pallor1
abnormal embryonic-extraembryonic boundary morphology1
abnormal anterior visceral endoderm morphology1
abnormal extraembryonic ectoderm morphology1
embryonic lethality between implantation and placentation, complete penetrance1
lethality throughout fetal growth and development, complete penetrance1
embryonic lethality during organogenesis, incomplete penetrance1
impaired erythropoiesis1

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.

OrganismUniProtIdentityMethod
Gallus gallusP55968100.0%Diamond
Pan troglodytesQ7YR4999.7%Diamond
Macaca mulattaQ2850399.0%Diamond
Xenopus tropicalisQ4QQQ798.9%Diamond
Xenopus laevisQ561L598.9%Diamond
Mesocricetus auratusQ812B198.6%Diamond
Oncorhynchus mykissQ0847898.3%Diamond
Oncorhynchus ketaQ9116998.3%Diamond
Sus scrofaQ2908798.1%Diamond
Bos taurusP1003697.9%Diamond
Ovis ariesP7936497.9%Diamond
Meleagris gallopavoQ0574995.9%Diamond
Bombyx moriQ1723795.5%Diamond
Canis lupus familiarisQ9TTI791.8%Diamond
Dugesia japonicaP3137083.0%Diamond
Drosophila virilisQ2470573.4%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).

SymbolTypeEntrez
POU2F1-DTncRNA118568815
CREG1protein-coding8804
CD247protein-coding919
LINC01363ncRNA101928484

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 IDNamesCanonical?
P14859-11yes
P14859-22, Oct-1L, lymphocyte-specific
P14859-33
P14859-66
P14859-44
P14859-55

RefSeq proteins (5): NP_001185712, NP_001185715, NP_001352777, NP_001352778, NP_002688* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000327POU_domDomain
IPR000972TF_octamerFamily
IPR001356HDDomain
IPR009057Homeodomain-like_sfHomologous_superfamily
IPR010982Lambda_DNA-bd_dom_sfHomologous_superfamily
IPR013847POUDomain
IPR017970Homeobox_CSConserved_site
IPR045703POU2F1_CDomain
IPR050255POU_domain_TFFamily

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:

PDBTitleMethodResolution (Å)
1E3OCrystal structure of Oct-1 POU dimer bound to MOREX-RAY DIFFRACTION1.9
1GT0Crystal structure of a POU/HMG/DNA ternary complexX-RAY DIFFRACTION2.6
1HF0Crystal structure of the DNA-binding domain of Oct-1 bound to DNA as a dimerX-RAY DIFFRACTION2.7
1OCTCRYSTAL STRUCTURE OF THE OCT-1 POU DOMAIN BOUND TO AN OCTAMER SITE: DNA RECOGNITION WITH …X-RAY DIFFRACTION3
1CQTCRYSTAL STRUCTURE OF A TERNARY COMPLEX CONTAINING AN OCA-B PEPTIDE, THE OCT-1 POU DOMAIN …X-RAY DIFFRACTION3.2
1O4XTERNARY COMPLEX OF THE DNA BINDING DOMAINS OF THE OCT1 AND SOX2 TRANSCRIPTION FACTORS …SOLUTION NMR
1POGSOLUTION STRUCTURE OF THE OCT-1 POU-HOMEO DOMAIN DETERMINED BY NMR AND RESTRAINED …SOLUTION NMR
1POUTHE SOLUTION STRUCTURE OF THE OCT-1 POU-SPECIFIC DOMAIN REVEALS A STRIKING SIMILARITY TO …SOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P14859-F150.690.17

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)

TypePositions
Phosphothreonine270, 276
Phosphoserine283, 385, 448

Mutagenesis-validated functional residues (1)

PositionPhenotype
385loss 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:

IDPathwayEvidence
R-HSA-9018519Estrogen-dependent gene expressioncurated
R-HSA-6785807Interleukin-4 and Interleukin-13 signalingcurated
R-HSA-1280215Cytokine Signaling in Immune system—
R-HSA-9976102Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)electronic
R-HSA-8939211ESR-mediated signaling—
R-HSA-74160Gene expression (Transcription)—
R-HSA-168256Immune System—
R-HSA-73857RNA Polymerase II Transcription—
R-HSA-749476RNA Polymerase III Abortive And Retractive Initiationelectronic
R-HSA-74158RNA Polymerase III Transcription—
R-HSA-76046RNA Polymerase III Transcription Initiation—
R-HSA-76071RNA Polymerase III Transcription Initiation From Type 3 Promoterelectronic
R-HSA-6807505RNA polymerase II transcribes snRNA geneselectronic
R-HSA-162582Signal Transduction—
R-HSA-449147Signaling by Interleukins—
R-HSA-9006931Signaling 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:

CategoryPathways
RNA Polymerase III Transcription2
Gene expression (Transcription)2
Signaling by Interleukins1
RNA Polymerase II Transcription1
RNA Polymerase III Transcription Initiation1
ESR-mediated signaling1
Differentiation of T cells1
Immune System1
Cytokine Signaling in Immune system1
Signaling by Nuclear Receptors1
Signal Transduction1

GO top-level categories

33 GO namespaces:

CategoryTerms
RNA polymerase II transcription regulatory region sequence-specific DNA binding4
regulation of DNA-templated transcription3
transcription by RNA polymerase II2
DNA-templated transcription2
regulation of transcription by RNA polymerase II2
positive regulation of DNA-templated transcription2
cellular anatomical structure2
gene expression1
RNA biosynthetic process1
negative regulation of RNA biosynthetic process1
miRNA transcription1
regulation of miRNA transcription1
positive regulation of miRNA metabolic process1
regulation of gene expression1
regulation of RNA biosynthetic process1
cis-regulatory region sequence-specific DNA binding1
core promoter sequence-specific DNA binding1
chromatin1
DNA-binding transcription factor activity1
DNA-binding transcription factor activity, RNA polymerase II-specific1
DNA-binding transcription activator activity1
positive regulation of transcription by RNA polymerase II1
nucleic acid binding1
protein binding1
DNA binding1
transcription cis-regulatory region binding1
transcription regulator activity1
binding1
chromosome1
intracellular membrane-bounded organelle1
nuclear lumen1
transcription regulator complex1
nuclear protein-containing complex1

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 termNSEvidence
negative regulation of DNA-templated transcriptionBPdirect assay
positive regulation of transcription by RNA polymerase IIBPdirect assay
RNA polymerase II transcription regulator complexCCmutant phenotype
nucleusCCdirect assay
DNA bindingMFdirect assay
DNA-binding transcription factor activity, RNA polymerase II-specificMFmutant phenotype
RNA polymerase II cis-regulatory region sequence-specific DNA bindingMFdirect assay
RNA polymerase II core promoter sequence-specific DNA bindingMFmutant phenotype
identical protein bindingMFphysical interaction
sequence-specific DNA bindingMFdirect assay

Protein interactions and networks

STRING

showing 15 of 1,226 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
POU2F1HCFC2Q9Y5Z7763
POU2F1HCFC1P51610710
POU2F1POU2AF1Q16633698
POU2F1CREB3O43889635
POU2F1CREBZFQ9NS37603
POU2F1GCM1Q9NP62515
POU2F1DCDC2Q9UHG0501
POU2F1ACOT13Q9NPJ3498
POU2F1ZSCAN1Q8NBB4487
POU2F1MAZP56270474
POU2F1MZF1P28698466
POU2F1H2BC21Q16778460
POU2F1HNF1AP20823445
POU2F1FOXA1P55317437
POU2F1HINFPQ9BQA5437

IntAct

Human interaction partners of POU2F1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

14 partners by confidence:

PartnerInteraction typeMIscoreRecords
SP1physical association0.7207
SP4physical association0.5605
PLK3physical association0.5603
POGZphysical association0.5603
TEAD1direct interaction0.4401
HCFC1physical association0.4001
CEBPEphysical association0.3701
HOXB13physical association0.3701
HOXC9physical association0.3701
IRF9physical association0.3701
POU2AF1physical association0.3701
TLX2physical association0.3701
BAG2association0.3501
BANF1association0.3501

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:

AEffectBMechanism
POU2AF1up-regulatesPOU2F1binding
POU2F1“up-regulates quantity by expression”HOXD10“transcriptional regulation”
POU2F1“up-regulates quantity by expression”HOXD11“transcriptional regulation”
PRKAA1down-regulatesPOU2F1phosphorylation
PER2“down-regulates activity”POU2F1binding
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”
PRKDCdown-regulatesPOU2F1phosphorylation
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”POU2F1binding
SNAPC“up-regulates activity”POU2F1binding

Protein complexes (CORUM) (4)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

4 complexes by size:

ComplexSubunitsMembers
★ NFKB1-POU2F1-POU2F2-RELA-YY1 complex5NFKB1, POU2F1, POU2F2, RELA, YY1
OCT1-OBF1-TLE1 complex3POU2AF1, POU2F1, TLE1
POU2F1-SOX2 complex2POU2F1, SOX2
OCT1-OBF1-DNA complex2POU2AF1, 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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance63
Likely benign3
Benign3

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)EffectΔscoreSites
1:167332468–167332469acceptor_loss1.00005
1:167332536–167332537donor_loss1.00005
1:167365465–167365466acceptor_loss1.00006
1:167365568–167365569donor_loss1.00005
1:167370215–167370216donor_loss1.00005
1:167371902acceptor_gain1.0000
1:167374106–167374107acceptor_loss1.00006
1:167374297–167374298donor_loss1.00004
1:167376027–167376028acceptor_loss1.00006
1:167376156–167376157donor_loss1.00005

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:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
M33990.9981.000
M31390.9871.000
M41890.9190.996
N33881.0001.000
S32280.9991.000
F32980.9991.000
N42980.9991.000
F29580.9981.000
D32080.9981.000
F32180.9981.000
S33580.9981.000
D30880.9971.000
N33380.9971.000
F33680.9971.000
F29180.9961.000
F39880.9871.000
F42780.9821.000
D35280.9760.995
S38580.9651.000
F30480.9631.000

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

1 prognostic cancer types:

CancerPrognosticp-value
Liver Hepatocellular Carcinoma (TCGA)unfavorable0.000526

Disease associations

OMIM: gene MIM:164175 | disease phenotypes:

GWAS associations

7 associations:

StudyTraitp-value
GCST008758_8Pre-treatment viral load in HIV-1 infection6e-17
GCST009798_14Asthma8e-11
GCST008916_65Asthma9e-10
GCST006627_86Diastolic blood pressure3e-9
GCST005175_1Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes3e-6
GCST000248_4Liver enzyme levels4e-6
GCST005174_38Coronary artery calcified atherosclerotic plaque score in type 2 diabetes7e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO IDTrait name
EFO:0004723coronary artery calcification
EFO:0006336diastolic blood pressure
EFO:0010125viral 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:

MoleculeNamePhasePatents
CHEMBL237500LINAGLIPTIN45,545

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).

pChemblTypeValueUnitMolecule
6.00IC501000nMCHEMBL5563848

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.

CompoundAssayTypeValueUnit
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-carbonitrile2077520: Inhibition of OCT1 (unknown origin)ic501.0000uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, increases expression3
Valproic Acidaffects cotreatment, decreases expression3
methacrylaldehydeaffects cotreatment, decreases expression, increases oxidation, increases abundance2
bisphenol Sdecreases methylation, affects cotreatment, decreases expression2
Acroleinaffects cotreatment, decreases expression, increases oxidation, increases abundance2
Air Pollutantsaffects cotreatment, decreases expression, increases abundance, increases oxidation2
Ozoneaffects cotreatment, decreases expression, increases oxidation, increases abundance2
Tetrachlorodibenzodioxindecreases expression2
aristolochic acid Idecreases expression1
lasiocarpinedecreases expression, increases metabolic processing1
alpha-pineneincreases abundance, affects cotreatment, decreases expression, increases oxidation1
bisphenol Aaffects cotreatment, decreases expression1
trichostatin Adecreases expression1
2-butenaldecreases expression1
riddelliinedecreases expression, increases metabolic processing1
arsenitedecreases reaction, affects binding1
sodium arseniteincreases expression1
cobaltous chlorideaffects cotreatment, affects expression1
coenzyme Q10decreases reaction, increases expression1
lead chlorideaffects cotreatment, affects expression1
cadmium sulfateaffects cotreatment, affects expression1
di-n-butylphosphoric acidaffects expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
fenbuconazoleincreases expression1
dorsomorphinaffects cotreatment, decreases expression1
jinfukangdecreases expression1
Arsenic Trioxideincreases expression1
Ethanoldecreases expression1
Vehicle Emissionsdecreases expression, increases abundance1
Cadmiumdecreases expression, increases abundance1

ChEMBL screening assays

14 unique, capped per target: 9 binding, 5 admet

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL3536917ADMETDrug uptake assessed as OCT1 (unknown origin)-mediated drug uptake expressed in HEK293 cells by liquid scintillation counting relative to controlEvaluation and prediction of potential drug-drug interactions of linagliptin using in vitro cell culture methods. — *Drug Metab Dispos*
CHEMBL4809211BindingInhibition of human OCT1 assessed as reduction in OCT1-mediated metformin transport at 14900 uM relative to controlIdentification 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):

CellosaurusNameCategorySex
CVCL_D1YHAbcam A-549 POU2F1 KOCancer cell lineMale
CVCL_D2NYAbcam THP-1 POU2F1 KOCancer cell lineMale

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.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.