P49335 · PO3F4_HUMAN
- ProteinPOU domain, class 3, transcription factor 4
- GenePOU3F4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids361 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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.
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 278-337 | Homeobox | ||||
Sequence: KRKKRTSIEVSVKGVLETHFLKCPKPAAQEISSLADSLQLEKEVVRVWFCNRRQKEKRMT |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aspect | Term | |
---|---|---|
Cellular Component | chromatin | |
Cellular Component | nucleus | |
Molecular Function | DNA-binding transcription factor activity | |
Molecular Function | DNA-binding transcription factor activity, RNA polymerase II-specific | |
Molecular Function | RNA polymerase II cis-regulatory region sequence-specific DNA binding | |
Molecular Function | sequence-specific double-stranded DNA binding | |
Biological Process | brain development | |
Biological Process | cochlea morphogenesis | |
Biological Process | negative regulation of mesenchymal cell apoptotic process | |
Biological Process | regulation of transcription by RNA polymerase II | |
Biological Process | sensory perception of sound |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended namePOU domain, class 3, transcription factor 4
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP49335
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Deafness, X-linked, 2 (DFNX2)
- Note
- DescriptionA form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness.
- See alsoMIM:304400
Natural variants in DFNX2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_015261 | 201-202 | missing | in DFNX2 | |
VAR_003782 | 312 | A>V | in DFNX2; dbSNP:rs387906502 | |
VAR_003783 | 317 | L>W | in DFNX2; dbSNP:rs104894921 | |
VAR_003784 | 323 | R>G | in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes; dbSNP:rs104894924 | |
VAR_003785 | 330 | R>S | in DFNX2; dbSNP:rs104894923 | |
VAR_003786 | 334 | K>E | in DFNX2; dbSNP:rs104894922 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_015261 | 201-202 | in DFNX2 | |||
Sequence: Missing | ||||||
Natural variant | VAR_067431 | 237 | in dbSNP:rs5921979 | |||
Sequence: G → A | ||||||
Natural variant | VAR_003782 | 312 | in DFNX2; dbSNP:rs387906502 | |||
Sequence: A → V | ||||||
Natural variant | VAR_003783 | 317 | in DFNX2; dbSNP:rs104894921 | |||
Sequence: L → W | ||||||
Natural variant | VAR_003784 | 323 | in DFNX2; somatic mosaicism in 50% of the peripheral blood lymphocytes; dbSNP:rs104894924 | |||
Sequence: R → G | ||||||
Natural variant | VAR_003785 | 330 | in DFNX2; dbSNP:rs104894923 | |||
Sequence: R → S | ||||||
Natural variant | VAR_003786 | 334 | in DFNX2; dbSNP:rs104894922 | |||
Sequence: K → E |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 7 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000100732 | 1-361 | UniProt | POU domain, class 3, transcription factor 4 | |||
Sequence: MATAASNPYSILSSTSLVHADSAGMQQGSPFRNPQKLLQSDYLQGVPSNGHPLGHHWVTSLSDGGPWSSTLATSPLDQQDVKPGREDLQLGAIIHHRSPHVAHHSPHTNHPNAWGASPAPNPSITSSGQPLNVYSQPGFTVSGMLEHGGLTPPPAAASAQSLHPVLREPPDHGELGSHHCQDHSDEETPTSDELEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEGLQLSFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGVLETHFLKCPKPAAQEISSLADSLQLEKEVVRVWFCNRRQKEKRMTPPGDQQPHEVYSHTVKTDTSCHDL | |||||||
Modified residue | 265 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 265 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Brain specific.
Structure
Family & Domains
Features
Showing features for region, compositional bias, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 99-131 | Disordered | ||||
Sequence: PHVAHHSPHTNHPNAWGASPAPNPSITSSGQPL | ||||||
Compositional bias | 110-131 | Polar residues | ||||
Sequence: HPNAWGASPAPNPSITSSGQPL | ||||||
Region | 144-192 | Disordered | ||||
Sequence: MLEHGGLTPPPAAASAQSLHPVLREPPDHGELGSHHCQDHSDEETPTSD | ||||||
Compositional bias | 167-192 | Basic and acidic residues | ||||
Sequence: REPPDHGELGSHHCQDHSDEETPTSD | ||||||
Domain | 186-260 | POU-specific | ||||
Sequence: EETPTSDELEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEGLQLSFKNMCKLKPLLNKWLEEAD |
Sequence similarities
Belongs to the POU transcription factor family. Class-3 subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length361
- Mass (Da)39,427
- Last updated2005-10-11 v2
- ChecksumDE30602CFAC4683A
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A2R8Y739 | A0A2R8Y739_HUMAN | POU3F4 | 361 |
Features
Showing features for compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 110-131 | Polar residues | ||||
Sequence: HPNAWGASPAPNPSITSSGQPL | ||||||
Compositional bias | 167-192 | Basic and acidic residues | ||||
Sequence: REPPDHGELGSHHCQDHSDEETPTSD |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X82324 EMBL· GenBank· DDBJ | CAA57767.1 EMBL· GenBank· DDBJ | mRNA | ||
AK314967 EMBL· GenBank· DDBJ | BAG37468.1 EMBL· GenBank· DDBJ | mRNA | ||
Z82170 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471104 EMBL· GenBank· DDBJ | EAW98577.1 EMBL· GenBank· DDBJ | Genomic DNA |