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POU4F1 (POU class 4 homeobox 1)

Written2007-12Vishwanie Budhram-Mahadeo, David S Latchman
Medical Molecular Biology Unit, Institute of Child Health, 30 Guilford St, London WC 1N1 EH, UK

(Note : for Links provided by Atlas : click)

Identity

Alias_namesBRN3A
POU domain class 4
Alias_symbol (synonym)RDC-1
HGNC (Hugo) POU4F1
LocusID (NCBI) 5457
Atlas_Id 44173
Location 13q31.1  [Link to chromosome band 13q31]
Location_base_pair Starts at 79173230 and ends at 79177695 bp from pter ( according to hg19-Feb_2009)  [Mapping POU4F1.png]
Local_order Gene orientation: minus strand
Note Member of class IV POU domain transcription factor.

DNA/RNA

Description The gene is about 4,468 bases encoded by two exons separated by a short intron.
Transcription 5', upstream promoter drives expression of longer Brn-3a transcript encoding for Brn-3a(l) protein which includes exons 1 and 2. Regulatory sequences within the intron control expression of short Brn-3a transcript entirely from exon 2, which encodes Brn-3a(s) protein.

Protein

 
  Schematic diagram showing the two isoforms of Brn3-a protein that can be derived from the Brn-3a gene as a result of alternative promoter usage (P1 and P2). AD refers to N-terminal activation domain present only in Brn-3a(l). POU domain found at the C' terminal of the protein is common to both Brn-3a(l) and Brn-3a(s).
Description Protein product for Brn-3a(l) is 423 amino acids with estimated molecular weight of about 42.9 kDa whereas Brn-3a(s) protein is 339 amino acids; about 32 kDa.
Expression Nervous System: Originally isolated from brain cDNA, Brn-3a is expressed in specific neurons of midbrain and hindbrain in CNS and in peripheral sensory neurons (trigeminal ganglia, dorsal root ganglia, spinal cord). It is first seen in neural crest cells that are destined to form sensory neurons and expression persists in mature neurones. Brn-3a is also expressed in retinal ganglion cells and vestibular somatosensory cells, where it cooperates with Brn-3b and Brn-3c respectively to determine cell fate.
Non-neuronal cell: Brn-3a is also expressed in T-cells, heart, testis, ovary, breast epithelium.
Cancers: implicated in neuroblastoma, Ewing sarcoma, cervical cancers, prostate cancers.
Localisation Nuclear
Function Brn-3a proteins act as transcription factors to regulate the expression of target genes, which can alter cell fate. In neuron, Brn-3a protects cells from apoptosis (by transactivating anti-apoptotic genes while repressing expression of pro-apoptotic proteins -see below). Brn-3a also enhances differentiation of neuronal cells in vitro and in-vivo by its ability to transactivate multiple neuronal target promoters. Brn-3a is required for the generation of proprioceptors in trigeminal ganglia.
The POU domain found at the C' terminal end of Brn-3a proteins is a bipartite DNA binding domain that can recognize and bind with high affinity and specificity to specific DNA sequences present in the promoters of target genes. DNA consensus sites recognized by Brn-3a include a core A/T rich octamer sequence e.g. ATAATTAAT with the POU-homeodomain (POU-HD) facilitating high affinity binding, whilst the POU-specific (POU-s) domain enhances specificity.
The POU domain of Brn-3a protein also has transactivation function and since Brn-3a(l) and Brn-3a(s) are identical in this region, both proteins can regulate specific subsets of target genes that require POU domain transactivation function e.g. neurofilament, SNAP 25, synaptophysin, Hsp-27. However, some Brn-3a target genes require the N' terminal transactivation domain that is found only in Brn-3a(l) protein and therefore these target genes can only be activated by Brn-3a(l) protein e.g. Bcl-2, Bcl-XL, alpha-internexin. Other target genes regulated by Brn-3a include TrkA, neuroD1 and neuroD4, Nav1.7 sodium channel, Doppel glycoprotein, iNOS, p53, NGFI-A, Hsp-27, tyrosine hydroxylase. Brn-3a also auto-regulate its own expression.
In addition to its direct effects on specific target genes, Brn-3a can also alter gene expression by its interaction with other cellular factors. For example, Brn-3a interacts physically with p53 protein, and modifies its effects on specific target genes that regulate cell fate. Thus Brn-3a cooperates with p53 to increase the expression of the cell cycle regulator, p21cip1/waf1 whilst antagonising p53 mediated expression of pro-apoptotic target genes, Bax and Noxa.
Brn-3a other interacting partner includes Rin1 (on target gene, Egr1), HIPK1 (alters TrkA expression), EWS- Fli1 fusion protein (represses Brn-3a mediated effects on survival / differentiation genes).
In addition to cellular target genes, Brn-3a also controls expression of viral genes such as those encoding the human papilloma virus (HPV) immediate early E6/E7 gene (required for HPV transformation of cervical cells) by binding to and transactivating the viral promoter. It is thought that the ability of Brn-3a to transactivate this promoter contributes to its effects in transformation of cervical cancer cells.
Homology High homology with other POU4 family members in the POU domain (C' terminal end of the protein), and in the POU4 box (region of homology within the N' terminal transactivation domain, present only in Brn-3a(l)). Family members include mammalian POU4f2 (Brn-3b), POU4f3 (Brn-3c), drosophila I-POU and nematode, unc-86.

Implicated in

Note
  
Entity Normal development of sensory neurons in CNS and PNS
Note Loss of Brn-3a by homologous recombination in mice resulted in significant loss of sensory neurons (e.g. in the midbrain, trigeminal ganglia, dorsal root ganglia) during development. Mutants die within the first day of birth. Studies using cultured neural crest cells demonstrate that Brn-3a expressing cells are destined for sensory lineage. Brn-3a is required for the survival of these cells and achieves this partly by inhibiting expression of p53 mediated, pro-apoptotic target genes. Neural crest cells cultured from Brn-3a knockout mice, undergo significant apoptosis as a result of increased expression of p53 pro-apoptotic target genes, bax and Noxa.
  
  
Entity Neuroblastomas
Oncogenesis Brn-3a mRNA is significantly reduced in neuroblastoma tumour biopsies. Studies undertaken using neuroblastoma cell lines showed that Brn-3a is expressed at low levels when the cells are actively proliferating. However, when cells are induced to cease dividing and undergo differentiation, Brn-3a is significantly increased in cells. Forced over-expression of Brn-3a protects cells from apoptosis but also induces differentiation and neurite outgrowth. Therefore, the significant decrease of Brn-3 in neuroblastoma tumours may contribute to the oncogenic changes in the cells.
  
  
Entity Neuroendocrine tumours
Oncogenesis Brn-3a was shown to be elevated in highly aggressive neuroendocrine tumours SCCL tumours and ACTH producing pituitary tumours.
  
  
Entity Ewing sarcoma
Oncogenesis Brn-3a was detected in some Ewing sarcomas, which are tumours derived from primitive neural ectodermal lineage. These tumours are characterised by rearrangement of genes encoding the Ewing sarcoma (EWS) protein, and members of the Ets family of transcription factors. The most common fusion protein, EWS/Fli1, produces cellular transformation. Brn-3a interacts with the EWS/Fli1 fusion protein, and this interaction prevents Brn-3a mediated transactivation of genes required for cell cycle arrest e.g. p21cip1/waf1 and neurite outgrowth e.g. SNAP-25.
  
  
Entity Cervical cancer
Oncogenesis Brn-3a is expressed at high levels in high-grade cervical intra-epithelial neoplasia (CIN 3) compared to normal cervical biopsies. In this context, Brn-3a may contribute to tissue formation by binding to regulatory regions of Human Papilloma Viruses, HPV-16 and HPV18 and regulate expression of their oncogenic E6 and E7 genes.
  
  
Entity Prostate cancer
Oncogenesis Brn-3a was also detected in prostate cancers with up to 50% of tumours showing significant increase in expression of Brn-3a short isoforms.
  
  
Entity Systemic lupus erythematosus
Note Brn-3a is elevated in approximately 43% of patients with SLE and this correlates with enhanced levels of auto-antibodies to the protein. Increased Brn-3a also correlates with enhanced expression of HSP 90 protein in serum of SLE patients.
  

Bibliography

Differential expression of four members of the POU family of proteins in activated and phorbol 12-myristate 13-acetate-treated Jurkat T cells.
Bhargava AK, Li Z, Weissman SM
Proceedings of the National Academy of Sciences of the United States of America. 1993 ; 90 (21) : 10260-10264.
PMID 8234287
 
The Brn-3a POU family transcription factor stimulates p53 gene expression in human and mouse tumour cells.
Budhram-Mahadeo V, Morris P, Ndisang D, Irshad S, Lozano G, Pedley B, Latchman DS
Neuroscience letters. 2002 ; 334 (1) : 1-4.
PMID 12431761
 
The Brn-3a transcription factor inhibits the pro-apoptotic effect of p53 and enhances cell cycle arrest by differentially regulating the activity of the p53 target genes encoding Bax and p21(CIP1/Waf1).
Budram-Mahadeo V, Morris PJ, Latchman DS
Oncogene. 2002 ; 21 (39) : 6123-6131.
PMID 12203124
 
Phosphorylation of the Brn-3a transcription factor is modulated during differentiation and regulates its functional activity.
Calissano M, Faulkes D, Latchman DS
Brain research. Molecular brain research. 2005 ; 141 (1) : 10-18.
PMID 16126301
 
A novel POU homeodomain gene specifically expressed in cells of the developing mammalian nervous system.
Collum RG, Fisher PE, Datta M, Mellis S, Thiele C, Huebner K, Croce CM, Israel MA, Theil T, Moroy T
Nucleic acids research. 1992 ; 20 (18) : 4919-4925.
PMID 1357630
 
Brn-3a neuronal transcription factor functional expression in human prostate cancer.
Diss JK, Faulkes DJ, Walker MM, Patel A, Foster CS, Budhram-Mahadeo V, Djamgoz MB, Latchman DS
Prostate cancer and prostatic diseases. 2006 ; 9 (1) : 83-91.
PMID 16276351
 
Defects in sensory axon growth precede neuronal death in Brn3a-deficient mice.
Eng SR, Gratwick K, Rhee JM, Fedtsova N, Gan L, Turner EE
The Journal of neuroscience : the official journal of the Society for Neuroscience. 2001 ; 21 (2) : 541-549.
PMID 11160433
 
Coordinated regulation of gene expression by Brn3a in developing sensory ganglia.
Eng SR, Lanier J, Fedtsova N, Turner EE
Development (Cambridge, England). 2004 ; 131 (16) : 3859-3870.
PMID 15253936
 
The BRN-3A transcription factor protects sensory but not sympathetic neurons from programmed cell death/apoptosis.
Ensor E, Smith MD, Latchman DS
The Journal of biological chemistry. 2001 ; 276 (7) : 5204-5212.
PMID 11053412
 
Regulation of Hsp27 expression and cell survival by the POU transcription factor Brn3a.
Farooqui-Kabir SR, Budhram-Mahadeo V, Lewis H, Latchman DS, Marber MS, Heads RJ
Cell death and differentiation. 2004 ; 11 (11) : 1242-1244.
PMID 15272315
 
Distinct domains of Brn-3a regulate apoptosis and neurite outgrowth in vivo.
Faulkes DJ, Ensor E, Le Rouzic E, Latchman DS
Neuroreport. 2004 ; 15 (9) : 1421-1425.
PMID 15194866
 
Signals from the ventral midline and isthmus regulate the development of Brn3.0-expressing neurons in the midbrain.
Fedtsova N, Turner EE
Mechanisms of development. 2001 ; 105 (1-2) : 129-144.
PMID 11429288
 
Brn-3.0 expression identifies early post-mitotic CNS neurons and sensory neural precursors.
Fedtsova NG, Turner EE
Mechanisms of development. 1995 ; 53 (3) : 291-304.
PMID 8645597
 
The effects of Brn-3a on neuronal differentiation and apoptosis are differentially modulated by EWS and its oncogenic derivative EWS/Fli-1.
Gascoyne DM, Thomas GR, Latchman DS
Oncogene. 2004 ; 23 (21) : 3830-3840.
PMID 15021903
 
Activation of the iNOS gene promoter by Brn-3 POU family transcription factors is dependent upon the octamer motif in the promoter.
Gay RD, Dawson SJ, Murphy WJ, Russell SW, Latchman DS
Biochimica et biophysica acta. 1998 ; 1443 (3) : 315-322.
PMID 9878805
 
Expression of a large family of POU-domain regulatory genes in mammalian brain development.
He X, Treacy MN, Simmons DM, Ingraham HA, Swanson LW, Rosenfeld MG
Nature. 1989 ; 340 (6228) : 35-41.
PMID 2739723
 
Brn3a is a transcriptional regulator of soma size, target field innervation and axon pathfinding of inner ear sensory neurons.
Huang EJ, Liu W, Fritzsch B, Bianchi LM, Reichardt LF, Xiang M
Development (Cambridge, England). 2001 ; 128 (13) : 2421-2432.
PMID 11493560
 
POU domain factor Brn-3a controls the differentiation and survival of trigeminal neurons by regulating Trk receptor expression.
Huang EJ, Zang K, Schmidt A, Saulys A, Xiang M, Reichardt LF
Development (Cambridge, England). 1999 ; 126 (13) : 2869-2882.
PMID 10357931
 
Brn-3a transcription factor blocks p53-mediated activation of proapoptotic target genes Noxa and Bax in vitro and in vivo to determine cell fate.
Hudson CD, Morris PJ, Latchman DS, Budhram-Mahadeo VS
The Journal of biological chemistry. 2005 ; 280 (12) : 11851-11858.
PMID 15598651
 
Coexpression of Brn-3a POU protein with p53 in a population of neuronal progenitor cells is associated with differentiation and protection against apoptosis.
Hudson CD, Podesta J, Henderson D, Latchman DS, Budhram-Mahadeo V
Journal of neuroscience research. 2004 ; 78 (6) : 803-814.
PMID 15532030
 
Effect of Brn-3a deficiency on primary nociceptors in the trigeminal ganglion.
Ichikawa H, Schulz S, Höllt V, Mo Z, Xiang M, Sugimoto T
Neuroscience research. 2005 ; 51 (4) : 445-451.
PMID 15740807
 
Regulation of neurite outgrowth and SNAP-25 gene expression by the Brn-3a transcription factor.
Lakin ND, Morris PJ, Theil T, Sato TN, Möröy T, Wilson MC, Latchman DS
The Journal of biological chemistry. 1995 ; 270 (26) : 15858-15863.
PMID 7797590
 
Brn3a target gene recognition in embryonic sensory neurons.
Lanier J, Quina LA, Eng SR, Cox E, Turner EE
Developmental biology. 2007 ; 302 (2) : 703-716.
PMID 17196582
 
The Brn-3a transcription factor.
Latchman DS
The international journal of biochemistry & cell biology. 1998 ; 30 (11) : 1153-1157.
PMID 9839440
 
High expression of the POU factor Brn3a in aggressive neuroendocrine tumors.
Leblond-Francillard M, Picon A, Bertagna X, de Keyzer Y
The Journal of clinical endocrinology and metabolism. 1997 ; 82 (1) : 89-94.
PMID 8989239
 
Activation of the herpes simplex virus immediate-early gene promoters by neuronally expressed POU family transcription factors.
Lillycrop KA, Liu YZ, Theil T, Möröy T, Latchman DS
The Biochemical journal. 1995 ; 307 ( Pt 2) : 581-584.
PMID 7733899
 
Alternative splicing of the Brn-3a and Brn-3b transcription factor RNAs is regulated in neuronal cells.
Liu YZ, Dawson SJ, Latchman DS
Journal of molecular neuroscience : MN. 1996 ; 7 (1) : 77-85.
PMID 8835784
 
Brn3a regulation of TrkA/NGF receptor expression in developing sensory neurons.
Ma L, Lei L, Eng SR, Turner E, Parada LF
Development (Cambridge, England). 2003 ; 130 (15) : 3525-3534.
PMID 12810599
 
Accessibility of phosphates in domain I of 23 S rRNA in the ribosomal 50 S subunit as detected by R(P) phosphorothioates.
Maiväli U, Pulk A, Loogväli EL, Remme J
Biochimica et biophysica acta. 2002 ; 1579 (1) : 1-7.
PMID 12401213
 
Requirement for Brn-3.0 in differentiation and survival of sensory and motor neurons.
McEvilly RJ, Erkman L, Luo L, Sawchenko PE, Ryan AF, Rosenfeld MG
Nature. 1996 ; 384 (6609) : 574-577.
PMID 8955272
 
Differential regulation of neuronal nicotinic acetylcholine receptor subunit gene promoters by Brn-3 POU family transcription factors.
Milton NG, Bessis A, Changeux JP, Latchman DS
The Biochemical journal. 1996 ; 317 ( Pt 2) : 419-423.
PMID 8713067
 
Differential regulation of genes encoding synaptic proteins by members of the Brn-3 subfamily of POU transcription factors.
Morris PJ, Lakin ND, Dawson SJ, Ryabinin AE, Kilimann MW, Wilson MC, Latchman DS
Brain research. Molecular brain research. 1996 ; 43 (1-2) : 279-285.
PMID 9037543
 
The Brn-3a transcription factor plays a key role in regulating the growth of cervical cancer cells in vivo.
Ndisang D, Budhram-Mahadeo V, Pedley B, Latchman DS
Oncogene. 2001 ; 20 (35) : 4899-4903.
PMID 11521202
 
Differential regulation of different human papilloma virus variants by the POU family transcription factor Brn-3a.
Ndisang D, Faulkes DJ, Gascoyne D, Lee SA, Ripley BJ, Sindos M, Singer A, Budhram-Mahadeo V, Cason J, Latchman DS
Oncogene. 2006 ; 25 (1) : 51-60.
PMID 16247485
 
The HPV-activating cellular transcription factor Brn-3a is overexpressed in CIN3 cervical lesions.
Ndisdang D, Morris PJ, Chapman C, Ho L, Singer A, Latchman DS
The Journal of clinical investigation. 1998 ; 101 (8) : 1687-1692.
PMID 9541499
 
Distinct promoter elements mediate the co-operative effect of Brn-3a and p53 on the p21 promoter and their antagonism on the Bax promoter.
Perez-Sanchez C, Budhram-Mahadeo VS, Latchman DS
Nucleic acids research. 2002 ; 30 (22) : 4872-4880.
PMID 12433990
 
Elevated expression of the Brn-3a and Brn-3b transcription factors in systemic lupus erythematosus correlates with antibodies to Brn-3 and overexpression of Hsp90.
Ripley BJ, Rahman MA, Isenberg DA, Latchman DS
Arthritis and rheumatism. 2005 ; 52 (4) : 1171-1179.
PMID 15818685
 
The N-terminal domain unique to the long form of the Brn-3a transcription factor is essential to protect neuronal cells from apoptosis and for the activation of Bbcl-2 gene expression.
Smith MD, Dawson SJ, Boxer LM, Latchman DS
Nucleic acids research. 1998 ; 26 (18) : 4100-4107.
PMID 9722627
 
Regulation of NGFI-A (Egr-1) gene expression by the POU domain transcription factor Brn-3a.
Smith MD, Ensor EA, Stohl L, Wagner JA, Latchman DS
Brain research. Molecular brain research. 1999 ; 74 (1-2) : 117-125.
PMID 10640682
 
The functionally antagonistic POU family transcription factors Brn-3a and Brn-3b show opposite changes in expression during the growth arrest and differentiation of human neuroblastoma cells.
Smith MD, Latchman DS
International journal of cancer. Journal international du cancer. 1996 ; 67 (5) : 653-660.
PMID 8782654
 
Brn-3a activates the expression of Bcl-x(L) and promotes neuronal survival in vivo as well as in vitro.
Smith MD, Melton LA, Ensor EA, Packham G, Anderson P, Kinloch RA, Latchman DS
Molecular and cellular neurosciences. 2001 ; 17 (3) : 460-470.
PMID 11273642
 
Coordinate induction of the three neurofilament genes by the Brn-3a transcription factor.
Smith MD, Morris PJ, Dawson SJ, Schwartz ML, Schlaepfer WW, Latchman DS
The Journal of biological chemistry. 1997 ; 272 (34) : 21325-21333.
PMID 9261145
 
EWS differentially activates transcription of the Brn-3a long and short isoform mRNAs from distinct promoters.
Thomas GR, Faulkes DJ, Gascoyne D, Latchman DS
Biochemical and biophysical research communications. 2004 ; 318 (4) : 1045-1051.
PMID 15147979
 
The pro-oncoprotein EWS (Ewing's Sarcoma protein) interacts with the Brn-3a POU transcription factor and inhibits its ability to activate transcription.
Thomas GR, Latchman DS
Cancer biology & therapy. 2002 ; 1 (4) : 428-432.
PMID 12432261
 
Autoregulatory sequences are revealed by complex stability screening of the mouse brn-3.0 locus.
Trieu M, Rhee JM, Fedtsova N, Turner EE
The Journal of neuroscience : the official journal of the Society for Neuroscience. 1999 ; 19 (15) : 6549-6558.
PMID 10414983
 
POU-domain factor expression in the trigeminal ganglion and implications for herpes virus regulation.
Turner EE, Fedtsova N, Rosenfeld MG
Neuroreport. 1996 ; 7 (18) : 2829-2832.
PMID 9116190
 
NT-3 regulates expression of Brn3a but not Brn3b in developing mouse trigeminal sensory neurons.
Wyatt S, Ensor L, Begbie J, Ernfors P, Reichardt LF, Latchman DS
Brain research. Molecular brain research. 1998 ; 55 (2) : 254-264.
PMID 9582431
 
Role of the Brn-3 family of POU-domain genes in the development of the auditory/vestibular, somatosensory, and visual systems.
Xiang M, Gan L, Li D, Zhou L, Chen ZY, Wagner D, O'Malley BW Jr, Klein W, Nathans J
Cold Spring Harbor symposia on quantitative biology. 1997 ; 62 : 325-336.
PMID 9598366
 

Citation

This paper should be referenced as such :
Budhram-Mahadeo, V ; Latchman, DS
POU4F1 (POU class 4 homeobox 1)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(4):320-324.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/POU4F1ID44173ch13q31.html


External links

Nomenclature
HGNC (Hugo)POU4F1   9218
Cards
AtlasPOU4F1ID44173ch13q31
Entrez_Gene (NCBI)POU4F1  5457  POU class 4 homeobox 1
AliasesBRN3A; Oct-T1; RDC-1; brn-3A
GeneCards (Weizmann)POU4F1
Ensembl hg19 (Hinxton)ENSG00000152192 [Gene_View]  chr13:79173230-79177695 [Contig_View]  POU4F1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000152192 [Gene_View]  chr13:79173230-79177695 [Contig_View]  POU4F1 [Vega]
ICGC DataPortalENSG00000152192
TCGA cBioPortalPOU4F1
AceView (NCBI)POU4F1
Genatlas (Paris)POU4F1
WikiGenes5457
SOURCE (Princeton)POU4F1
Genetics Home Reference (NIH)POU4F1
Genomic and cartography
GoldenPath hg19 (UCSC)POU4F1  -     chr13:79173230-79177695 -  13q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)POU4F1  -     13q31.1   [Description]    (hg38-Dec_2013)
EnsemblPOU4F1 - 13q31.1 [CytoView hg19]  POU4F1 - 13q31.1 [CytoView hg38]
Mapping of homologs : NCBIPOU4F1 [Mapview hg19]  POU4F1 [Mapview hg38]
OMIM601632   
Gene and transcription
Genbank (Entrez)BC148330 BC148792 BM714015 BM726529 L20433
RefSeq transcript (Entrez)NM_006237
RefSeq genomic (Entrez)NC_000013 NC_018924 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)POU4F1
Cluster EST : UnigeneHs.654522 [ NCBI ]
CGAP (NCI)Hs.654522
Alternative Splicing GalleryENSG00000152192
Gene ExpressionPOU4F1 [ NCBI-GEO ]   POU4F1 [ EBI - ARRAY_EXPRESS ]   POU4F1 [ SEEK ]   POU4F1 [ MEM ]
Gene Expression Viewer (FireBrowse)POU4F1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5457
GTEX Portal (Tissue expression)POU4F1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01851   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01851  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01851
Splice isoforms : SwissVarQ01851
PhosPhoSitePlusQ01851
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    POU_1 (PS00035)    POU_2 (PS00465)    POU_3 (PS51179)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeodomain-like    Lambda_DNA-bd_dom    POU    POU_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    Pou (PF00157)   
Domain families : Pfam (NCBI)pfam00046    pfam00157   
Domain families : Smart (EMBL)HOX (SM00389)  POU (SM00352)  
Conserved Domain (NCBI)POU4F1
DMDM Disease mutations5457
Blocks (Seattle)POU4F1
SuperfamilyQ01851
Human Protein AtlasENSG00000152192
Peptide AtlasQ01851
HPRD03379
IPIIPI00009864   
Protein Interaction databases
DIP (DOE-UCLA)Q01851
IntAct (EBI)Q01851
FunCoupENSG00000152192
BioGRIDPOU4F1
STRING (EMBL)POU4F1
ZODIACPOU4F1
Ontologies - Pathways
QuickGOQ01851
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  suckling behavior  ventricular compact myocardium morphogenesis  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  nucleoplasm  transcription from RNA polymerase II promoter  axonogenesis  synapse assembly  mesoderm development  cell migration in hindbrain  trigeminal nerve development  central nervous system neuron differentiation  habenula development  neuron projection  positive regulation of apoptotic process  negative regulation of neuron apoptotic process  positive regulation of transcription from RNA polymerase II promoter  neuron fate specification  sensory system development  peripheral nervous system neuron development  regulation of neurogenesis  proprioception involved in equilibrioception  innervation  positive regulation of cell cycle arrest  regulation of signal transduction by p53 class mediator  negative regulation of transcription elongation from RNA polymerase I promoter  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  suckling behavior  ventricular compact myocardium morphogenesis  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  nucleoplasm  transcription from RNA polymerase II promoter  axonogenesis  synapse assembly  mesoderm development  cell migration in hindbrain  trigeminal nerve development  central nervous system neuron differentiation  habenula development  neuron projection  positive regulation of apoptotic process  negative regulation of neuron apoptotic process  positive regulation of transcription from RNA polymerase II promoter  neuron fate specification  sensory system development  peripheral nervous system neuron development  regulation of neurogenesis  proprioception involved in equilibrioception  innervation  positive regulation of cell cycle arrest  regulation of signal transduction by p53 class mediator  negative regulation of transcription elongation from RNA polymerase I promoter  
REACTOMEQ01851 [protein]
REACTOME Pathways6804759 [pathway]   
NDEx NetworkPOU4F1
Atlas of Cancer Signalling NetworkPOU4F1
Wikipedia pathwaysPOU4F1
Orthology - Evolution
OrthoDB5457
GeneTree (enSembl)ENSG00000152192
Phylogenetic Trees/Animal Genes : TreeFamPOU4F1
HOVERGENQ01851
HOGENOMQ01851
Homologs : HomoloGenePOU4F1
Homology/Alignments : Family Browser (UCSC)POU4F1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOU4F1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POU4F1
dbVarPOU4F1
ClinVarPOU4F1
1000_GenomesPOU4F1 
Exome Variant ServerPOU4F1
ExAC (Exome Aggregation Consortium)POU4F1 (select the gene name)
Genetic variants : HAPMAP5457
Genomic Variants (DGV)POU4F1 [DGVbeta]
DECIPHER (Syndromes)13:79173230-79177695  ENSG00000152192
CONAN: Copy Number AnalysisPOU4F1 
Mutations
ICGC Data PortalPOU4F1 
TCGA Data PortalPOU4F1 
Broad Tumor PortalPOU4F1
OASIS PortalPOU4F1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOU4F1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOU4F1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch POU4F1
DgiDB (Drug Gene Interaction Database)POU4F1
DoCM (Curated mutations)POU4F1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POU4F1 (select a term)
intoGenPOU4F1
NCG5 (London)POU4F1
Cancer3DPOU4F1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601632   
Orphanet
MedgenPOU4F1
Genetic Testing Registry POU4F1
NextProtQ01851 [Medical]
TSGene5457
GENETestsPOU4F1
Huge Navigator POU4F1 [HugePedia]
snp3D : Map Gene to Disease5457
BioCentury BCIQPOU4F1
ClinGenPOU4F1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5457
Chemical/Pharm GKB GenePA33542
Clinical trialPOU4F1
Miscellaneous
canSAR (ICR)POU4F1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOU4F1
EVEXPOU4F1
GoPubMedPOU4F1
iHOPPOU4F1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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