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UniProtKB - P49335 (PO3F4_HUMAN)
Protein
POU domain, class 3, transcription factor 4
Gene
POU3F4
Organism
Homo sapiens (Human)
Status
Functioni
Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 278 – 337 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription factor activity Source: ProtInc
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- brain development Source: InterPro
- cochlea morphogenesis Source: UniProtKB
- negative regulation of mesenchymal cell apoptotic process Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- sensory perception of sound Source: ProtInc
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P49335 |
SignaLinki | P49335 |
SIGNORi | P49335 |
Names & Taxonomyi
Protein namesi | Recommended name: POU domain, class 3, transcription factor 4Alternative name(s): Brain-specific homeobox/POU domain protein 4 Short name: Brain-4 Short name: Brn-4 Octamer-binding protein 9 Short name: Oct-9 Octamer-binding transcription factor 9 Short name: OTF-9 |
Gene namesi | Name:POU3F4 Synonyms:BRN4, OTF9 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9217, POU3F4 |
MIMi | 300039, gene |
neXtProti | NX_P49335 |
Pathology & Biotechi
Involvement in diseasei
Deafness, X-linked, 2 (DFNX2)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015261 | 201 – 202 | Missing in DFNX2. 1 Publication | 2 | |
Natural variantiVAR_003782 | 312 | A → V in DFNX2. 1 PublicationCorresponds to variant dbSNP:rs387906502EnsemblClinVar. | 1 | |
Natural variantiVAR_003783 | 317 | L → W in DFNX2. 1 PublicationCorresponds to variant dbSNP:rs104894921EnsemblClinVar. | 1 | |
Natural variantiVAR_003784 | 323 | R → G in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes. 1 PublicationCorresponds to variant dbSNP:rs104894924EnsemblClinVar. | 1 | |
Natural variantiVAR_003785 | 330 | R → S in DFNX2. 1 PublicationCorresponds to variant dbSNP:rs104894923EnsemblClinVar. | 1 | |
Natural variantiVAR_003786 | 334 | K → E in DFNX2. 1 PublicationCorresponds to variant dbSNP:rs104894922EnsemblClinVar. | 1 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 5456 |
GeneReviewsi | POU3F4 |
MalaCardsi | POU3F4 |
MIMi | 304400, phenotype |
Orphaneti | 90641, Mitochondrial non-syndromic sensorineural deafness 1435, Xq21 microdeletion syndrome |
PharmGKBi | PA33541 |
Miscellaneous databases
Pharosi | P49335, Tbio |
Genetic variation databases
BioMutai | POU3F4 |
DMDMi | 77416874 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000100732 | 1 – 361 | POU domain, class 3, transcription factor 4Add BLAST | 361 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 265 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | P49335 |
MassIVEi | P49335 |
MaxQBi | P49335 |
PaxDbi | P49335 |
PeptideAtlasi | P49335 |
PRIDEi | P49335 |
ProteomicsDBi | 55990 |
PTM databases
iPTMneti | P49335 |
PhosphoSitePlusi | P49335 |
Expressioni
Tissue specificityi
Brain specific.
Gene expression databases
Bgeei | ENSG00000196767, Expressed in subventricular zone (inner) (primate) and 36 other tissues |
Genevisiblei | P49335, HS |
Interactioni
Subunit structurei
Interacts with HNRNPU.
1 PublicationProtein-protein interaction databases
BioGRIDi | 111452, 11 interactors |
STRINGi | 9606.ENSP00000362296 |
Miscellaneous databases
RNActi | P49335, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 186 – 260 | POU-specificPROSITE-ProRule annotationAdd BLAST | 75 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 99 – 131 | DisorderedSequence analysisAdd BLAST | 33 | |
Regioni | 144 – 192 | DisorderedSequence analysisAdd BLAST | 49 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 110 – 131 | Polar residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 167 – 192 | Basic and acidic residuesSequence analysisAdd BLAST | 26 |
Sequence similaritiesi
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG3802, Eukaryota |
HOGENOMi | CLU_013065_1_2_1 |
InParanoidi | P49335 |
OrthoDBi | 752252at2759 |
PhylomeDBi | P49335 |
TreeFami | TF316413 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
Gene3Di | 1.10.260.40, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR010982, Lambda_DNA-bd_dom_sf IPR013847, POU IPR000327, POU_dom IPR016362, TF_POU_3 |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF00157, Pou, 1 hit |
PIRSFi | PIRSF002629, Transcription_factor_POU, 1 hit |
PRINTSi | PR00028, POUDOMAIN |
SMARTi | View protein in SMART SM00389, HOX, 1 hit SM00352, POU, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit SSF47413, SSF47413, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS00035, POU_1, 1 hit PS00465, POU_2, 1 hit PS51179, POU_3, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P49335-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MATAASNPYS ILSSTSLVHA DSAGMQQGSP FRNPQKLLQS DYLQGVPSNG
60 70 80 90 100
HPLGHHWVTS LSDGGPWSST LATSPLDQQD VKPGREDLQL GAIIHHRSPH
110 120 130 140 150
VAHHSPHTNH PNAWGASPAP NPSITSSGQP LNVYSQPGFT VSGMLEHGGL
160 170 180 190 200
TPPPAAASAQ SLHPVLREPP DHGELGSHHC QDHSDEETPT SDELEQFAKQ
210 220 230 240 250
FKQRRIKLGF TQADVGLALG TLYGNVFSQT TICRFEGLQL SFKNMCKLKP
260 270 280 290 300
LLNKWLEEAD SSTGSPTSID KIAAQGRKRK KRTSIEVSVK GVLETHFLKC
310 320 330 340 350
PKPAAQEISS LADSLQLEKE VVRVWFCNRR QKEKRMTPPG DQQPHEVYSH
360
TVKTDTSCHD L
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8Y739 | A0A2R8Y739_HUMAN | POU domain protein | POU3F4 | 361 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015261 | 201 – 202 | Missing in DFNX2. 1 Publication | 2 | |
Natural variantiVAR_067431 | 237 | G → A2 PublicationsCorresponds to variant dbSNP:rs5921979Ensembl. | 1 | |
Natural variantiVAR_003782 | 312 | A → V in DFNX2. 1 PublicationCorresponds to variant dbSNP:rs387906502EnsemblClinVar. | 1 | |
Natural variantiVAR_003783 | 317 | L → W in DFNX2. 1 PublicationCorresponds to variant dbSNP:rs104894921EnsemblClinVar. | 1 | |
Natural variantiVAR_003784 | 323 | R → G in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes. 1 PublicationCorresponds to variant dbSNP:rs104894924EnsemblClinVar. | 1 | |
Natural variantiVAR_003785 | 330 | R → S in DFNX2. 1 PublicationCorresponds to variant dbSNP:rs104894923EnsemblClinVar. | 1 | |
Natural variantiVAR_003786 | 334 | K → E in DFNX2. 1 PublicationCorresponds to variant dbSNP:rs104894922EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X82324 mRNA Translation: CAA57767.1 AK314967 mRNA Translation: BAG37468.1 Z82170 Genomic DNA No translation available. CH471104 Genomic DNA Translation: EAW98577.1 |
CCDSi | CCDS14450.1 |
PIRi | A55557 |
RefSeqi | NP_000298.3, NM_000307.4 |
Genome annotation databases
GeneIDi | 5456 |
KEGGi | hsa:5456 |
UCSCi | uc004eeg.3, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Hereditary hearing loss homepage Gene page |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X82324 mRNA Translation: CAA57767.1 AK314967 mRNA Translation: BAG37468.1 Z82170 Genomic DNA No translation available. CH471104 Genomic DNA Translation: EAW98577.1 |
CCDSi | CCDS14450.1 |
PIRi | A55557 |
RefSeqi | NP_000298.3, NM_000307.4 |
3D structure databases
AlphaFoldDBi | P49335 |
SMRi | P49335 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111452, 11 interactors |
STRINGi | 9606.ENSP00000362296 |
PTM databases
iPTMneti | P49335 |
PhosphoSitePlusi | P49335 |
Genetic variation databases
BioMutai | POU3F4 |
DMDMi | 77416874 |
Proteomic databases
jPOSTi | P49335 |
MassIVEi | P49335 |
MaxQBi | P49335 |
PaxDbi | P49335 |
PeptideAtlasi | P49335 |
PRIDEi | P49335 |
ProteomicsDBi | 55990 |
Protocols and materials databases
DNASUi | 5456 |
Genome annotation databases
GeneIDi | 5456 |
KEGGi | hsa:5456 |
UCSCi | uc004eeg.3, human |
Organism-specific databases
CTDi | 5456 |
DisGeNETi | 5456 |
GeneCardsi | POU3F4 |
GeneReviewsi | POU3F4 |
HGNCi | HGNC:9217, POU3F4 |
MalaCardsi | POU3F4 |
MIMi | 300039, gene 304400, phenotype |
neXtProti | NX_P49335 |
Orphaneti | 90641, Mitochondrial non-syndromic sensorineural deafness 1435, Xq21 microdeletion syndrome |
PharmGKBi | PA33541 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3802, Eukaryota |
HOGENOMi | CLU_013065_1_2_1 |
InParanoidi | P49335 |
OrthoDBi | 752252at2759 |
PhylomeDBi | P49335 |
TreeFami | TF316413 |
Enzyme and pathway databases
PathwayCommonsi | P49335 |
SignaLinki | P49335 |
SIGNORi | P49335 |
Miscellaneous databases
BioGRID-ORCSi | 5456, 12 hits in 715 CRISPR screens |
ChiTaRSi | POU3F4, human |
GeneWikii | POU3F4 |
GenomeRNAii | 5456 |
Pharosi | P49335, Tbio |
PROi | PR:P49335 |
RNActi | P49335, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000196767, Expressed in subventricular zone (inner) (primate) and 36 other tissues |
Genevisiblei | P49335, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
Gene3Di | 1.10.260.40, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR010982, Lambda_DNA-bd_dom_sf IPR013847, POU IPR000327, POU_dom IPR016362, TF_POU_3 |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF00157, Pou, 1 hit |
PIRSFi | PIRSF002629, Transcription_factor_POU, 1 hit |
PRINTSi | PR00028, POUDOMAIN |
SMARTi | View protein in SMART SM00389, HOX, 1 hit SM00352, POU, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit SSF47413, SSF47413, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS00035, POU_1, 1 hit PS00465, POU_2, 1 hit PS51179, POU_3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PO3F4_HUMAN | |
Accessioni | P49335Primary (citable) accession number: P49335 Secondary accession number(s): B2RC71, Q5H9G9, Q99410 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1996 |
Last sequence update: | October 11, 2005 | |
Last modified: | May 25, 2022 | |
This is version 197 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families